LOCUS NP_001106659 677 aa linear ROD 07-OCT-2023 DEFINITION RNA-binding protein FXR1 isoform 1 [Mus musculus]. ACCESSION NP_001106659 VERSION NP_001106659.1 DBSOURCE REFSEQ: accession NM_001113188.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 677) AUTHORS Zhou GF, Tang J, Ma YL, Fu X, Liu JY, Yang RZ, Zhang HS, Cai XH, Wang JW, Xie XY, Song L, Luo B, Chen J, Chen L, Deng XJ and Chen GJ. TITLE ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation JOURNAL Proc Natl Acad Sci U S A 120 (22), e2220148120 (2023) PUBMED 37216506 REMARK GeneRIF: ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation. REFERENCE 2 (residues 1 to 677) AUTHORS Corbett CB, St Paul A, Leigh T, Kelemen SE, Peluzzo AM, Okune RN, Eguchi S, Haines DS and Autieri MV. TITLE Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells JOURNAL Am J Pathol 193 (5), 638-653 (2023) PUBMED 37080662 REMARK GeneRIF: Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells. REFERENCE 3 (residues 1 to 677) AUTHORS St Paul A, Corbett C, Peluzzo A, Kelemen S, Okune R, Haines DS, Preston K, Eguchi S and Autieri MV. TITLE FXR1 regulates vascular smooth muscle cell cytoskeleton, VSMC contractility, and blood pressure by multiple mechanisms JOURNAL Cell Rep 42 (4), 112381 (2023) PUBMED 37043351 REFERENCE 4 (residues 1 to 677) AUTHORS Kang JY, Wen Z, Pan D, Zhang Y, Li Q, Zhong A, Yu X, Wu YC, Chen Y, Zhang X, Kou PC, Geng J, Wang YY, Hua MM, Zong R, Li B, Shi HJ, Li D, Fu XD, Li J, Nelson DL, Guo X, Zhou Y, Gou LT, Huang Y and Liu MF. TITLE LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs JOURNAL Science 377 (6607), eabj6647 (2022) PUBMED 35951695 REMARK GeneRIF: LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs. REFERENCE 5 (residues 1 to 677) AUTHORS Khamoui AV, Tokmina-Roszyk D, Feresin RG, Fields GB and Visavadiya NP. TITLE Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1 JOURNAL Proteomics 22 (10), e2100157 (2022) PUBMED 35289490 REMARK GeneRIF: Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1. REFERENCE 6 (residues 1 to 677) AUTHORS Schenck A, Bardoni B, Moro A, Bagni C and Mandel JL. TITLE A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P JOURNAL Proc Natl Acad Sci U S A 98 (15), 8844-8849 (2001) PUBMED 11438699 REFERENCE 7 (residues 1 to 677) AUTHORS Dube M, Huot ME and Khandjian EW. TITLE Muscle specific fragile X related protein 1 isoforms are sequestered in the nucleus of undifferentiated myoblast JOURNAL BMC Genet 1, 4 (2000) PUBMED 11178106 REMARK GeneRIF: Four FXR1 isoforms of molecular weight 70, 74, 78, 80 kDa are widely distributed in mouse organs, while in striated muscles these isoforms are replaced by proteins of 82 and 84 kDa containing an extra pocket of 27 amino acids. REFERENCE 8 (residues 1 to 677) AUTHORS Ceman S, Brown V and Warren ST. TITLE Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex JOURNAL Mol Cell Biol 19 (12), 7925-7932 (1999) PUBMED 10567518 REFERENCE 9 (residues 1 to 677) AUTHORS Kirkpatrick LL, McIlwain KA and Nelson DL. TITLE Alternative splicing in the murine and human FXR1 genes JOURNAL Genomics 59 (2), 193-202 (1999) PUBMED 10409431 REFERENCE 10 (residues 1 to 677) AUTHORS Coy JF, Sedlacek Z, Bachner D, Hameister H, Joos S, Lichter P, Delius H and Poustka A. TITLE Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1 JOURNAL Hum Mol Genet 4 (12), 2209-2218 (1995) PUBMED 8634689 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC115078.11 and AC068294.26. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as isoform e). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7652917.17386.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..677 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 16.41 cM" Protein 1..677 /product="RNA-binding protein FXR1 isoform 1" /note="RNA-binding protein FXR1" /calculated_mol_wt=76091 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P51114; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Region 3..57 /region_name="Tudor_Agenet_FXR1_rpt1" /note="first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20472" /db_xref="CDD:410543" Site order(10,14,16,32,36,38) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410543" Region 61..126 /region_name="Tudor_Agenet_FXR1_rpt2" /note="second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20475" /db_xref="CDD:410546" Site 68 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0007744|PubMed:17947660; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site order(69,78,80,96,101,103) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410546" Region 123..199 /region_name="KH_I_FXR1_rpt1" /note="first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22504" /db_xref="CDD:411932" Region 218..280 /region_name="KH_I_FXR1_rpt2" /note="second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22507" /db_xref="CDD:411935" Site order(228,230..232,234..238,241..242,245..246,252..255) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411935" Region 281..358 /region_name="KH_I_FXR1_rpt3" /note="third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22510" /db_xref="CDD:411938" Site order(291,293..295,297..301,304..305,308..309,315..318) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411938" Region 354..467 /region_name="FXMRP1_C_core" /note="Fragile X-related 1 protein core C terminal; pfam12235" /db_xref="CDD:432414" Region 380..677 /region_name="Disordered. /evidence=ECO:0000269|PubMed:35951695" /note="propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 398 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q5XI81; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 430 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P51114; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 432 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5XI81; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 435 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 438 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 449 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 452 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P51114; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Region 471..486 /region_name="RNA-binding RGG-box" /note="propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 476 /site_type="methylation" /note="Asymmetric dimethylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; Omega-N-methylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 482 /site_type="methylation" /note="Asymmetric dimethylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; Omega-N-methylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 484 /site_type="methylation" /note="Asymmetric dimethylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; Omega-N-methylarginine, alternate. /evidence=ECO:0000250|UniProtKB:P35922; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Region 491..564 /region_name="FXR_C1" /note="Fragile X-related 1 protein C-terminal region 2; pfam16096" /db_xref="CDD:435133" Site 512 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 514 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P51114; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 553 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P51116; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Region 610..676 /region_name="FXR_C3" /note="Fragile X-related 1 protein C-terminal region 3; pfam16097" /db_xref="CDD:435134" Site 643 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61584.2)" Site 667 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P51114; propagated from UniProtKB/Swiss-Prot (Q61584.2)" CDS 1..677 /gene="Fxr1" /gene_synonym="1110050J02Rik; 9530073J07Rik; Fxr1h; Fxr1p" /coded_by="NM_001113188.2:16..2049" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS50891.1" /db_xref="GeneID:14359" /db_xref="MGI:MGI:104860" ORIGIN 1 maeltvevrg sngafykgfi kdvhedsltv vfennwqper qvpfnevrlp pppdikkeis 61 egdevevysr andqepcgww lakvrmmkge fyvieyaacd atyneivtfe rlrpvnqnkt 121 vkkntffkct vdvpedlrea canenahkdf kkavgacrif yhpettqlmi lsaseatvkr 181 vnilsdmhlr sirtklmlms rneeatkhle ctkqlaaafh eefvvredlm glaigthgsn 241 iqqarkvpgv taieldedtg tfriygesae avkkargfle fvedfiqvpr nlvgkvigkn 301 gkviqeivdk sgvvrvrieg dnenklpred gmvpfvfvgt kesignvqvl leyhiaylke 361 veqlrmerlq ideqlrqigm gfrpsstrgp erekgyatde stvssvqgsr sysgrgrgrr 421 gpnytsgygt nselsnpset eserkdelsd wslageddre trhqrdsrrr pggrgrsvsg 481 grgrggprgg kssissvlkd pdsnpyslld ntesdqtadt daseshhstn rrrrsrrrrt 541 dedavlmdgl tesdtasvne nglddsekkp qrrnrsrrrr frgqaedrqp vtvadyisra 601 esqsrqrnlp retlaknkke makdvieehg psekaingpt sasgdeipkl prtlgeektk 661 tlkedstqea avlngvs // LOCUS NP_001106660 621 aa linear ROD 07-OCT-2023 DEFINITION RNA-binding protein FXR1 isoform 2 [Mus musculus]. ACCESSION NP_001106660 VERSION NP_001106660.1 DBSOURCE REFSEQ: accession NM_001113189.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 621) AUTHORS Zhou GF, Tang J, Ma YL, Fu X, Liu JY, Yang RZ, Zhang HS, Cai XH, Wang JW, Xie XY, Song L, Luo B, Chen J, Chen L, Deng XJ and Chen GJ. TITLE ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation JOURNAL Proc Natl Acad Sci U S A 120 (22), e2220148120 (2023) PUBMED 37216506 REMARK GeneRIF: ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation. REFERENCE 2 (residues 1 to 621) AUTHORS Corbett CB, St Paul A, Leigh T, Kelemen SE, Peluzzo AM, Okune RN, Eguchi S, Haines DS and Autieri MV. TITLE Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells JOURNAL Am J Pathol 193 (5), 638-653 (2023) PUBMED 37080662 REMARK GeneRIF: Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells. REFERENCE 3 (residues 1 to 621) AUTHORS St Paul A, Corbett C, Peluzzo A, Kelemen S, Okune R, Haines DS, Preston K, Eguchi S and Autieri MV. TITLE FXR1 regulates vascular smooth muscle cell cytoskeleton, VSMC contractility, and blood pressure by multiple mechanisms JOURNAL Cell Rep 42 (4), 112381 (2023) PUBMED 37043351 REFERENCE 4 (residues 1 to 621) AUTHORS Kang JY, Wen Z, Pan D, Zhang Y, Li Q, Zhong A, Yu X, Wu YC, Chen Y, Zhang X, Kou PC, Geng J, Wang YY, Hua MM, Zong R, Li B, Shi HJ, Li D, Fu XD, Li J, Nelson DL, Guo X, Zhou Y, Gou LT, Huang Y and Liu MF. TITLE LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs JOURNAL Science 377 (6607), eabj6647 (2022) PUBMED 35951695 REMARK GeneRIF: LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs. REFERENCE 5 (residues 1 to 621) AUTHORS Khamoui AV, Tokmina-Roszyk D, Feresin RG, Fields GB and Visavadiya NP. TITLE Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1 JOURNAL Proteomics 22 (10), e2100157 (2022) PUBMED 35289490 REMARK GeneRIF: Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1. REFERENCE 6 (residues 1 to 621) AUTHORS Schenck A, Bardoni B, Moro A, Bagni C and Mandel JL. TITLE A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P JOURNAL Proc Natl Acad Sci U S A 98 (15), 8844-8849 (2001) PUBMED 11438699 REFERENCE 7 (residues 1 to 621) AUTHORS Dube M, Huot ME and Khandjian EW. TITLE Muscle specific fragile X related protein 1 isoforms are sequestered in the nucleus of undifferentiated myoblast JOURNAL BMC Genet 1, 4 (2000) PUBMED 11178106 REMARK GeneRIF: Four FXR1 isoforms of molecular weight 70, 74, 78, 80 kDa are widely distributed in mouse organs, while in striated muscles these isoforms are replaced by proteins of 82 and 84 kDa containing an extra pocket of 27 amino acids. REFERENCE 8 (residues 1 to 621) AUTHORS Ceman S, Brown V and Warren ST. TITLE Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex JOURNAL Mol Cell Biol 19 (12), 7925-7932 (1999) PUBMED 10567518 REFERENCE 9 (residues 1 to 621) AUTHORS Kirkpatrick LL, McIlwain KA and Nelson DL. TITLE Alternative splicing in the murine and human FXR1 genes JOURNAL Genomics 59 (2), 193-202 (1999) PUBMED 10409431 REFERENCE 10 (residues 1 to 621) AUTHORS Coy JF, Sedlacek Z, Bachner D, Hameister H, Joos S, Lichter P, Delius H and Poustka A. TITLE Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1 JOURNAL Hum Mol Genet 4 (12), 2209-2218 (1995) PUBMED 8634689 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC115078.11 and AC068294.26. Transcript Variant: This variant (2) lacks alternate in-frame segments in both the mid-coding and 3' coding regions, compared to variant 1, resulting in a shorter protein (isoform 2, also known as isoform d), compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.560329.1, SRR13422590.40118.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..621 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 16.41 cM" Protein 1..621 /product="RNA-binding protein FXR1 isoform 2" /note="RNA-binding protein FXR1" /calculated_mol_wt=69584 Region 3..57 /region_name="Tudor_Agenet_FXR1_rpt1" /note="first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20472" /db_xref="CDD:410543" Site order(10,14,16,32,36,38) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410543" Region 61..126 /region_name="Tudor_Agenet_FXR1_rpt2" /note="second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20475" /db_xref="CDD:410546" Site order(69,78,80,96,101,103) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410546" Region 123..199 /region_name="KH_I_FXR1_rpt1" /note="first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22504" /db_xref="CDD:411932" Region 218..280 /region_name="KH_I_FXR1_rpt2" /note="second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22507" /db_xref="CDD:411935" Site order(228,230..232,234..238,241..242,245..246,252..255) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411935" Region 281..358 /region_name="KH_I_FXR1_rpt3" /note="third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22510" /db_xref="CDD:411938" Site order(291,293..295,297..301,304..305,308..309,315..318) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411938" Region 354..438 /region_name="FXMRP1_C_core" /note="Fragile X-related 1 protein core C terminal; pfam12235" /db_xref="CDD:432414" Region 462..535 /region_name="FXR_C1" /note="Fragile X-related 1 protein C-terminal region 2; pfam16096" /db_xref="CDD:435133" Region 554..620 /region_name="FXR_C3" /note="Fragile X-related 1 protein C-terminal region 3; pfam16097" /db_xref="CDD:435134" CDS 1..621 /gene="Fxr1" /gene_synonym="1110050J02Rik; 9530073J07Rik; Fxr1h; Fxr1p" /coded_by="NM_001113189.2:16..1881" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS79896.1" /db_xref="GeneID:14359" /db_xref="MGI:MGI:104860" ORIGIN 1 maeltvevrg sngafykgfi kdvhedsltv vfennwqper qvpfnevrlp pppdikkeis 61 egdevevysr andqepcgww lakvrmmkge fyvieyaacd atyneivtfe rlrpvnqnkt 121 vkkntffkct vdvpedlrea canenahkdf kkavgacrif yhpettqlmi lsaseatvkr 181 vnilsdmhlr sirtklmlms rneeatkhle ctkqlaaafh eefvvredlm glaigthgsn 241 iqqarkvpgv taieldedtg tfriygesae avkkargfle fvedfiqvpr nlvgkvigkn 301 gkviqeivdk sgvvrvrieg dnenklpred gmvpfvfvgt kesignvqvl leyhiaylke 361 veqlrmerlq ideqlrqigs rsysgrgrgr rgpnytsgyg tnselsnpse teserkdels 421 dwslageddr etrhqrdsrr rpggrgrsvs ggrgrggprg gkssissvlk dpdsnpysll 481 dntesdqtad tdaseshhst nrrrrsrrrr tdedavlmdg ltesdtasvn englvtvady 541 israesqsrq rnlpretlak nkkemakdvi eehgpsekai ngptsasgde ipklprtlge 601 ektktlkeds tqeaavlngv s // LOCUS NP_001157553 1197 aa linear ROD 07-OCT-2023 DEFINITION protein timeless homolog isoform 2 [Mus musculus]. ACCESSION NP_001157553 VERSION NP_001157553.1 DBSOURCE REFSEQ: accession NM_001164081.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1197) AUTHORS Barrio-Alonso E, Lituma PJ, Notaras MJ, Albero R, Bouchekioua Y, Wayland N, Stankovic IN, Jain T, Gao S, Calderon DP, Castillo PE and Colak D. TITLE Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling JOURNAL Cell Rep 42 (4), 112375 (2023) PUBMED 37043347 REMARK GeneRIF: Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling. REFERENCE 2 (residues 1 to 1197) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1197) AUTHORS Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH and Ptacek LJ. TITLE TIMELESS mutation alters phase responsiveness and causes advanced sleep phase JOURNAL Proc Natl Acad Sci U S A 116 (24), 12045-12053 (2019) PUBMED 31138685 REMARK GeneRIF: The mutation prevents TIM accumulation in the nucleus and has altered affinity for CRY2. REFERENCE 4 (residues 1 to 1197) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1197) AUTHORS Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H and Nagata K. TITLE Morphological characterization of mammalian timeless in the mouse brain development JOURNAL Neurosci Res 92, 21-28 (2015) PUBMED 25448545 REMARK GeneRIF: The obtained results suggest that Tim is expressed in neuronal tissues in a spatiotemporally regulated manner and involved in developmental stage-specific neuronal functions. REFERENCE 6 (residues 1 to 1197) AUTHORS Dunlap JC. TITLE Molecular bases for circadian clocks JOURNAL Cell 96 (2), 271-290 (1999) PUBMED 9988221 REMARK Review article REFERENCE 7 (residues 1 to 1197) AUTHORS Jin X, Shearman LP, Weaver DR, Zylka MJ, de Vries GJ and Reppert SM. TITLE A molecular mechanism regulating rhythmic output from the suprachiasmatic circadian clock JOURNAL Cell 96 (1), 57-68 (1999) PUBMED 9989497 REFERENCE 8 (residues 1 to 1197) AUTHORS Koike N, Hida A, Numano R, Hirose M, Sakaki Y and Tei H. TITLE Identification of the mammalian homologues of the Drosophila timeless gene, Timeless1 JOURNAL FEBS Lett 441 (3), 427-431 (1998) PUBMED 9891984 REFERENCE 9 (residues 1 to 1197) AUTHORS Zylka MJ, Shearman LP, Levine JD, Jin X, Weaver DR and Reppert SM. TITLE Molecular analysis of mammalian timeless JOURNAL Neuron 21 (5), 1115-1122 (1998) PUBMED 9856466 REFERENCE 10 (residues 1 to 1197) AUTHORS Sangoram AM, Saez L, Antoch MP, Gekakis N, Staknis D, Whiteley A, Fruechte EM, Vitaterna MH, Shimomura K, King DP, Young MW, Weitz CJ and Takahashi JS. TITLE Mammalian circadian autoregulatory loop: a timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription JOURNAL Neuron 21 (5), 1101-1113 (1998) PUBMED 9856465 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC052884.1, BC082770.1 and CJ088470.1. Summary: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (2). Both variants 2 and 4 encode the same isoform. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF071506.1, AB019001.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1197 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 76.49 cM" Protein 1..1197 /product="protein timeless homolog isoform 2" /note="protein timeless homolog; mTim" /calculated_mol_wt=137372 Region 1..309 /region_name="Required for homodimerization and for interaction with CRY1 and CHEK1. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 25..284 /region_name="TIMELESS" /note="Timeless protein; pfam04821" /db_xref="CDD:398476" Site 281 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 647..674 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 810..949 /region_name="DNA-binding domain. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 943..1002 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 997..1095 /region_name="Interaction with PARP1. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1003..1089 /region_name="TIMELESS_C" /note="Timeless protein C terminal region; pfam05029" /db_xref="CDD:398621" Site 1071 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1079..1197 /region_name="Required for nuclear localization. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1084 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1086 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1088..1197 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1165 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" CDS 1..1197 /gene="Timeless" /gene_synonym="Debt69; tim" /coded_by="NM_001164081.1:181..3774" /note="isoform 2 is encoded by transcript variant 4" /db_xref="CCDS:CCDS24266.1" /db_xref="GeneID:21853" /db_xref="MGI:MGI:1321393" ORIGIN 1 mdlymmncel latcsalgyl eggtyhkepd clesvkdlir ylrhedetrd vrqqlgaaqi 61 lqsdllpilt qhrqdkplfd avirlmvnlt qpallcfgsv pkdssvrhhf lqvltylqay 121 keafasekaf gvlsetlyel lqlgwedrqe ednllieril llvrnilhvp anleqeksid 181 ddasihdrll waihlsgmdd lllflssssa eqqwslhvle iislmfrdqt peqlagvgqg 241 rlaqerstdv aelevlrqre maekraralq rgnrhsrfgg syivqglksi gekdvvfhkg 301 lhnlqnyssd lgkqprrvpk rrqaaqelsv hrrsvlnvrl flrdfcsefl encynplmga 361 vkdhllrera qqhdetyymw amaffmafnr aatfrpglvs etlsirtfhf veqnltnyye 421 mmltdrkeaa swarrmhlal kayqellatv nemdmcpdea vressriikn nifymmeyre 481 lflalfrkfd eryhprsflr dlvetthlfl kmlerfcrsr gnlmvqnkrk krkkkkkvqd 541 qgvafsqspg eleamwpala eqllqcaqdp elsvdpvvpf daasevpvee qrveamvriq 601 dcltagqapq alallrsare vwpegnafgs pvispgeemq llkqilstpl prqqepeegd 661 aeeeeeeeee eelqvvqvse kefnfleylk rfasstivra yvlllrsyrq nsahtnhcia 721 kmlhrlahgl gmeallfqls lfclfnrlls dpaaaaykel vtfakyiigk ffalaavnqk 781 afvellfwkn tavvremtqg ygsldsgsss hraplwspee eaqlqelyla hkdvegqdvv 841 etilahlkvv prtrkqvihh lvrmgladsv kefqkrkgtq ivlwtedqel elqrlfeefr 901 dsddvlgqim knitakrsra rvvdkllalg lvserrqlyk krrkklapsc mqngeksprd 961 pwqedpeeed ehlpedesed eeseeglpsg qgqgssslsa enlgeslrqe glsapllwlq 1021 ssliraandr eedgcsqaip lvplteenee ameneqfqhl lrklgirpps sgqetfwrip 1081 aklsstqlrr vaaslsqqen eeereeepep gvpgeqgpse ehrtealral lsarkrkagl 1141 gpteeeatge eewnsapkkr qlldsdeeed degrrqavsg tprvhrkkrf qiededd // LOCUS NP_035719 1197 aa linear ROD 07-OCT-2023 DEFINITION protein timeless homolog isoform 2 [Mus musculus]. ACCESSION NP_035719 XP_912611 VERSION NP_035719.1 DBSOURCE REFSEQ: accession NM_011589.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1197) AUTHORS Barrio-Alonso E, Lituma PJ, Notaras MJ, Albero R, Bouchekioua Y, Wayland N, Stankovic IN, Jain T, Gao S, Calderon DP, Castillo PE and Colak D. TITLE Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling JOURNAL Cell Rep 42 (4), 112375 (2023) PUBMED 37043347 REMARK GeneRIF: Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling. REFERENCE 2 (residues 1 to 1197) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1197) AUTHORS Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH and Ptacek LJ. TITLE TIMELESS mutation alters phase responsiveness and causes advanced sleep phase JOURNAL Proc Natl Acad Sci U S A 116 (24), 12045-12053 (2019) PUBMED 31138685 REMARK GeneRIF: The mutation prevents TIM accumulation in the nucleus and has altered affinity for CRY2. REFERENCE 4 (residues 1 to 1197) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1197) AUTHORS Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H and Nagata K. TITLE Morphological characterization of mammalian timeless in the mouse brain development JOURNAL Neurosci Res 92, 21-28 (2015) PUBMED 25448545 REMARK GeneRIF: The obtained results suggest that Tim is expressed in neuronal tissues in a spatiotemporally regulated manner and involved in developmental stage-specific neuronal functions. REFERENCE 6 (residues 1 to 1197) AUTHORS Dunlap JC. TITLE Molecular bases for circadian clocks JOURNAL Cell 96 (2), 271-290 (1999) PUBMED 9988221 REMARK Review article REFERENCE 7 (residues 1 to 1197) AUTHORS Jin X, Shearman LP, Weaver DR, Zylka MJ, de Vries GJ and Reppert SM. TITLE A molecular mechanism regulating rhythmic output from the suprachiasmatic circadian clock JOURNAL Cell 96 (1), 57-68 (1999) PUBMED 9989497 REFERENCE 8 (residues 1 to 1197) AUTHORS Koike N, Hida A, Numano R, Hirose M, Sakaki Y and Tei H. TITLE Identification of the mammalian homologues of the Drosophila timeless gene, Timeless1 JOURNAL FEBS Lett 441 (3), 427-431 (1998) PUBMED 9891984 REFERENCE 9 (residues 1 to 1197) AUTHORS Zylka MJ, Shearman LP, Levine JD, Jin X, Weaver DR and Reppert SM. TITLE Molecular analysis of mammalian timeless JOURNAL Neuron 21 (5), 1115-1122 (1998) PUBMED 9856466 REFERENCE 10 (residues 1 to 1197) AUTHORS Sangoram AM, Saez L, Antoch MP, Gekakis N, Staknis D, Whiteley A, Fruechte EM, Vitaterna MH, Shimomura K, King DP, Young MW, Weitz CJ and Takahashi JS. TITLE Mammalian circadian autoregulatory loop: a timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription JOURNAL Neuron 21 (5), 1101-1113 (1998) PUBMED 9856465 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF098161.1 and BC082770.1. On Dec 7, 2005 this sequence version replaced XP_912611.1. Summary: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 4. Both variants 2 and 4 encode the same isoform (2). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF098161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1197 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="10" /map="10 76.49 cM" Protein 1..1197 /product="protein timeless homolog isoform 2" /note="protein timeless homolog; mTim" /calculated_mol_wt=137372 Region 1..309 /region_name="Required for homodimerization and for interaction with CRY1 and CHEK1. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 25..284 /region_name="TIMELESS" /note="Timeless protein; pfam04821" /db_xref="CDD:398476" Site 281 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 647..674 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 810..949 /region_name="DNA-binding domain. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 943..1002 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 997..1095 /region_name="Interaction with PARP1. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1003..1089 /region_name="TIMELESS_C" /note="Timeless protein C terminal region; pfam05029" /db_xref="CDD:398621" Site 1071 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1079..1197 /region_name="Required for nuclear localization. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1084 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1086 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1088..1197 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1165 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" CDS 1..1197 /gene="Timeless" /gene_synonym="Debt69; tim" /coded_by="NM_011589.2:124..3717" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS24266.1" /db_xref="GeneID:21853" /db_xref="MGI:MGI:1321393" ORIGIN 1 mdlymmncel latcsalgyl eggtyhkepd clesvkdlir ylrhedetrd vrqqlgaaqi 61 lqsdllpilt qhrqdkplfd avirlmvnlt qpallcfgsv pkdssvrhhf lqvltylqay 121 keafasekaf gvlsetlyel lqlgwedrqe ednllieril llvrnilhvp anleqeksid 181 ddasihdrll waihlsgmdd lllflssssa eqqwslhvle iislmfrdqt peqlagvgqg 241 rlaqerstdv aelevlrqre maekraralq rgnrhsrfgg syivqglksi gekdvvfhkg 301 lhnlqnyssd lgkqprrvpk rrqaaqelsv hrrsvlnvrl flrdfcsefl encynplmga 361 vkdhllrera qqhdetyymw amaffmafnr aatfrpglvs etlsirtfhf veqnltnyye 421 mmltdrkeaa swarrmhlal kayqellatv nemdmcpdea vressriikn nifymmeyre 481 lflalfrkfd eryhprsflr dlvetthlfl kmlerfcrsr gnlmvqnkrk krkkkkkvqd 541 qgvafsqspg eleamwpala eqllqcaqdp elsvdpvvpf daasevpvee qrveamvriq 601 dcltagqapq alallrsare vwpegnafgs pvispgeemq llkqilstpl prqqepeegd 661 aeeeeeeeee eelqvvqvse kefnfleylk rfasstivra yvlllrsyrq nsahtnhcia 721 kmlhrlahgl gmeallfqls lfclfnrlls dpaaaaykel vtfakyiigk ffalaavnqk 781 afvellfwkn tavvremtqg ygsldsgsss hraplwspee eaqlqelyla hkdvegqdvv 841 etilahlkvv prtrkqvihh lvrmgladsv kefqkrkgtq ivlwtedqel elqrlfeefr 901 dsddvlgqim knitakrsra rvvdkllalg lvserrqlyk krrkklapsc mqngeksprd 961 pwqedpeeed ehlpedesed eeseeglpsg qgqgssslsa enlgeslrqe glsapllwlq 1021 ssliraandr eedgcsqaip lvplteenee ameneqfqhl lrklgirpps sgqetfwrip 1081 aklsstqlrr vaaslsqqen eeereeepep gvpgeqgpse ehrtealral lsarkrkagl 1141 gpteeeatge eewnsapkkr qlldsdeeed degrrqavsg tprvhrkkrf qiededd // LOCUS NP_001096035 389 aa linear ROD 07-OCT-2023 DEFINITION nucleic acid dioxygenase ALKBH1 [Mus musculus]. ACCESSION NP_001096035 VERSION NP_001096035.1 DBSOURCE REFSEQ: accession NM_001102565.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 389) AUTHORS Wang X, Wong CC, Chen H, Fu K, Shi L, Su H, Guo S, Gou H, Hu X, Zhang L, Ji J and Yu J. TITLE The N6-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity JOURNAL Cell Rep 42 (3), 112279 (2023) PUBMED 36989111 REMARK GeneRIF: The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity. REFERENCE 2 (residues 1 to 389) AUTHORS Cai GP, Liu YL, Luo LP, Xiao Y, Jiang TJ, Yuan J and Wang M. TITLE Alkbh1-mediated DNA N6-methyladenine modification regulates bone marrow mesenchymal stem cell fate during skeletal aging JOURNAL Cell Prolif 55 (2), e13178 (2022) PUBMED 35018683 REMARK GeneRIF: Alkbh1-mediated DNA N6-methyladenine modification regulates bone marrow mesenchymal stem cell fate during skeletal aging. REFERENCE 3 (residues 1 to 389) AUTHORS Luo L, Liu Y, Nizigiyimana P, Ye M, Xiao Y, Guo Q, Su T, Luo X, Huang Y and Zhou H. TITLE DNA 6mA Demethylase ALKBH1 Orchestrates Fatty Acid Metabolism and Suppresses Diet-Induced Hepatic Steatosis JOURNAL Cell Mol Gastroenterol Hepatol 14 (6), 1213-1233 (2022) PUBMED 36058506 REMARK GeneRIF: DNA 6mA Demethylase ALKBH1 Orchestrates Fatty Acid Metabolism and Suppresses Diet-Induced Hepatic Steatosis. REFERENCE 4 (residues 1 to 389) AUTHORS Ouyang L, Su X, Li W, Tang L, Zhang M, Zhu Y, Xie C, Zhang P, Chen J and Huang H. TITLE ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease JOURNAL J Clin Invest 131 (14) (2021) PUBMED 34003800 REMARK GeneRIF: ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease. REFERENCE 5 (residues 1 to 389) AUTHORS Diao LT, Xie SJ, Yu PJ, Sun YJ, Yang F, Tan YY, Tao S, Hou YR, Zheng LL, Xiao ZD and Zhang Q. TITLE N6-methyladenine demethylase ALKBH1 inhibits the differentiation of skeletal muscle JOURNAL Exp Cell Res 400 (2), 112492 (2021) PUBMED 33529710 REFERENCE 6 (residues 1 to 389) AUTHORS Ougland R, Lando D, Jonson I, Dahl JA, Moen MN, Nordstrand LM, Rognes T, Lee JT, Klungland A, Kouzarides T and Larsen E. TITLE ALKBH1 is a histone H2A dioxygenase involved in neural differentiation JOURNAL Stem Cells 30 (12), 2672-2682 (2012) PUBMED 22961808 REMARK GeneRIF: Results suggest that ALKBH1 is involved in neural development by modifying the methylation status of histone H2A. REFERENCE 7 (residues 1 to 389) AUTHORS Nordstrand LM, Svard J, Larsen E, Nilsen A, Ougland R, Furu K, Lien GF, Rognes T, Namekawa SH, Lee JT and Klungland A. TITLE Mice lacking Alkbh1 display sex-ratio distortion and unilateral eye defects JOURNAL PLoS One 5 (11), e13827 (2010) PUBMED 21072209 REMARK GeneRIF: Data suggest that Alkbh1 mediates gene regulation in spermatogenesis, and that Alkbh1 is essential for normal sex-ratio distribution and embryonic development. Publication Status: Online-Only REFERENCE 8 (residues 1 to 389) AUTHORS Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE and Ponting CP. CONSRTM Mouse Genome Sequencing Consortium TITLE Lineage-specific biology revealed by a finished genome assembly of the mouse JOURNAL PLoS Biol 7 (5), e1000112 (2009) PUBMED 19468303 REFERENCE 9 (residues 1 to 389) AUTHORS Pan Z, Sikandar S, Witherspoon M, Dizon D, Nguyen T, Benirschke K, Wiley C, Vrana P and Lipkin SM. TITLE Impaired placental trophoblast lineage differentiation in Alkbh1(-/-) mice JOURNAL Dev Dyn 237 (2), 316-327 (2008) PUBMED 18163532 REMARK GeneRIF: Alkbh1 performs important functions in placental trophoblast lineage differentiation and participates in mechanisms of transcriptional regulation. REFERENCE 10 (residues 1 to 389) AUTHORS Gorba T, Bradoo P, Antonic A, Marvin K, Liu DX, Lobie PE, Reymann KG, Gluckman PD and Sieg F. TITLE Neural regeneration protein is a novel chemoattractive and neuronal survival-promoting factor JOURNAL Exp Cell Res 312 (16), 3060-3074 (2006) PUBMED 16860792 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK144828.1 and BC094381.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK144828.1, SRR1660815.220444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..389 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 41.65 cM" Protein 1..389 /product="nucleic acid dioxygenase ALKBH1" /EC_number="4.2.99.18" /EC_number="1.14.11.33" /EC_number="1.14.11.51" /note="Alkylated DNA repair protein alkB homolog 1; DNA lyase ABH1; alpha-ketoglutarate-dependent dioxygenase ABH1; DNA oxidative demethylase ALKBH1; alkB, alkylation repair homolog 1; DNA 6mA demethylase; DNA demethylase ALKBH1; tRNA N1-methyl adenine demethylase; mRNA N(3)-methylcytidine demethylase; DNA N6-methyl adenine demethylase ALKBH1" /calculated_mol_wt=43615 Region 1..127 /region_name="Interaction with DNAJB6. /evidence=ECO:0000269|PubMed:18163532" /note="propagated from UniProtKB/Swiss-Prot (P0CB42.1)" Region 86..389 /region_name="tRNA-binding. /evidence=ECO:0000250|UniProtKB:Q13686" /note="propagated from UniProtKB/Swiss-Prot (P0CB42.1)" Region 119..289 /region_name="2OG-FeII_Oxy" /note="2OG-Fe(II) oxygenase superfamily; cl21496" /db_xref="CDD:451274" CDS 1..389 /gene="Alkbh1" /gene_synonym="2700073G19Rik; Abh; alkB; Alkbh; hABH" /coded_by="NM_001102565.1:16..1185" /db_xref="CCDS:CCDS49120.1" /db_xref="GeneID:211064" /db_xref="MGI:MGI:2384034" ORIGIN 1 mgkmaaavas latlaaepre dafrklfrfy rqsrpgtadl gavidfseah larspkpgvp 61 qvvrfplnvs svterdaerv glepvskwra yglegypgfi fipnpflpgc qrhwvkqclk 121 lysqkpnvcn ldkhmtkeet qglweqskev lrskevtkrr prsllerlrw vtlgyhynwd 181 skkysadhyt pfpsdlafls eqvatacgfq gfqaeagiln yyrldstlgi hvdrseldhs 241 kpllsfsfgq saifllgglk rdeaptamfm hsgdimvmsg fsrllnhavp rvlphpdgec 301 lphcletplp avlpsnslve pcsvedwqvc atylrtarvn mtvrqvlatg qdfplepvee 361 tkrdiaadgl chlhdpnspv krkrlnpns // LOCUS NP_001157552 1196 aa linear ROD 07-OCT-2023 DEFINITION protein timeless homolog isoform 3 [Mus musculus]. ACCESSION NP_001157552 VERSION NP_001157552.1 DBSOURCE REFSEQ: accession NM_001164080.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1196) AUTHORS Barrio-Alonso E, Lituma PJ, Notaras MJ, Albero R, Bouchekioua Y, Wayland N, Stankovic IN, Jain T, Gao S, Calderon DP, Castillo PE and Colak D. TITLE Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling JOURNAL Cell Rep 42 (4), 112375 (2023) PUBMED 37043347 REMARK GeneRIF: Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling. REFERENCE 2 (residues 1 to 1196) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1196) AUTHORS Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH and Ptacek LJ. TITLE TIMELESS mutation alters phase responsiveness and causes advanced sleep phase JOURNAL Proc Natl Acad Sci U S A 116 (24), 12045-12053 (2019) PUBMED 31138685 REMARK GeneRIF: The mutation prevents TIM accumulation in the nucleus and has altered affinity for CRY2. REFERENCE 4 (residues 1 to 1196) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1196) AUTHORS Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H and Nagata K. TITLE Morphological characterization of mammalian timeless in the mouse brain development JOURNAL Neurosci Res 92, 21-28 (2015) PUBMED 25448545 REMARK GeneRIF: The obtained results suggest that Tim is expressed in neuronal tissues in a spatiotemporally regulated manner and involved in developmental stage-specific neuronal functions. REFERENCE 6 (residues 1 to 1196) AUTHORS Dunlap JC. TITLE Molecular bases for circadian clocks JOURNAL Cell 96 (2), 271-290 (1999) PUBMED 9988221 REMARK Review article REFERENCE 7 (residues 1 to 1196) AUTHORS Jin X, Shearman LP, Weaver DR, Zylka MJ, de Vries GJ and Reppert SM. TITLE A molecular mechanism regulating rhythmic output from the suprachiasmatic circadian clock JOURNAL Cell 96 (1), 57-68 (1999) PUBMED 9989497 REFERENCE 8 (residues 1 to 1196) AUTHORS Koike N, Hida A, Numano R, Hirose M, Sakaki Y and Tei H. TITLE Identification of the mammalian homologues of the Drosophila timeless gene, Timeless1 JOURNAL FEBS Lett 441 (3), 427-431 (1998) PUBMED 9891984 REFERENCE 9 (residues 1 to 1196) AUTHORS Zylka MJ, Shearman LP, Levine JD, Jin X, Weaver DR and Reppert SM. TITLE Molecular analysis of mammalian timeless JOURNAL Neuron 21 (5), 1115-1122 (1998) PUBMED 9856466 REFERENCE 10 (residues 1 to 1196) AUTHORS Sangoram AM, Saez L, Antoch MP, Gekakis N, Staknis D, Whiteley A, Fruechte EM, Vitaterna MH, Shimomura K, King DP, Young MW, Weitz CJ and Takahashi JS. TITLE Mammalian circadian autoregulatory loop: a timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription JOURNAL Neuron 21 (5), 1101-1113 (1998) PUBMED 9856465 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC052884.1, AK153838.1 and BC082770.1. Summary: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 4. The resulting isoform (3) lacks one aa near the C-terminus, compared to isoform 2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK153838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1196 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 76.49 cM" Protein 1..1196 /product="protein timeless homolog isoform 3" /note="protein timeless homolog; mTim" /calculated_mol_wt=137301 Region 1..309 /region_name="Required for homodimerization and for interaction with CRY1 and CHEK1. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 24..284 /region_name="TIMELESS" /note="Timeless protein; pfam04821" /db_xref="CDD:428142" Site 281 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 647..674 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 810..949 /region_name="DNA-binding domain. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 943..1002 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 997..1095 /region_name="Interaction with PARP1. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1003..1089 /region_name="TIMELESS_C" /note="Timeless protein C terminal region; pfam05029" /db_xref="CDD:428267" Site 1071 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1084 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1086 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1165 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" CDS 1..1196 /gene="Timeless" /gene_synonym="Debt69; tim" /coded_by="NM_001164080.1:181..3771" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS48724.1" /db_xref="GeneID:21853" /db_xref="MGI:MGI:1321393" ORIGIN 1 mdlymmncel latcsalgyl eggtyhkepd clesvkdlir ylrhedetrd vrqqlgaaqi 61 lqsdllpilt qhrqdkplfd avirlmvnlt qpallcfgsv pkdssvrhhf lqvltylqay 121 keafasekaf gvlsetlyel lqlgwedrqe ednllieril llvrnilhvp anleqeksid 181 ddasihdrll waihlsgmdd lllflssssa eqqwslhvle iislmfrdqt peqlagvgqg 241 rlaqerstdv aelevlrqre maekraralq rgnrhsrfgg syivqglksi gekdvvfhkg 301 lhnlqnyssd lgkqprrvpk rrqaaqelsv hrrsvlnvrl flrdfcsefl encynplmga 361 vkdhllrera qqhdetyymw amaffmafnr aatfrpglvs etlsirtfhf veqnltnyye 421 mmltdrkeaa swarrmhlal kayqellatv nemdmcpdea vressriikn nifymmeyre 481 lflalfrkfd eryhprsflr dlvetthlfl kmlerfcrsr gnlmvqnkrk krkkkkkvqd 541 qgvafsqspg eleamwpala eqllqcaqdp elsvdpvvpf daasevpvee qrveamvriq 601 dcltagqapq alallrsare vwpegnafgs pvispgeemq llkqilstpl prqqepeegd 661 aeeeeeeeee eelqvvqvse kefnfleylk rfasstivra yvlllrsyrq nsahtnhcia 721 kmlhrlahgl gmeallfqls lfclfnrlls dpaaaaykel vtfakyiigk ffalaavnqk 781 afvellfwkn tavvremtqg ygsldsgsss hraplwspee eaqlqelyla hkdvegqdvv 841 etilahlkvv prtrkqvihh lvrmgladsv kefqkrkgtq ivlwtedqel elqrlfeefr 901 dsddvlgqim knitakrsra rvvdkllalg lvserrqlyk krrkklapsc mqngeksprd 961 pwqedpeeed ehlpedesed eeseeglpsg qgqgssslsa enlgeslrqe glsapllwlq 1021 ssliraandr eedgcsqaip lvplteenee ameneqfqhl lrklgirpps sgqetfwrip 1081 aklsstqlrr vaaslsqqen eeereeepep gvpgeqgpse ehrtealral lsarkrkagl 1141 gpteeeatge eewnsapkkr qlldsdeeed degrrqvsgt prvhrkkrfq iededd // LOCUS NP_001129554 1196 aa linear ROD 07-OCT-2023 DEFINITION protein timeless homolog isoform 1 [Mus musculus]. ACCESSION NP_001129554 VERSION NP_001129554.1 DBSOURCE REFSEQ: accession NM_001136082.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1196) AUTHORS Barrio-Alonso E, Lituma PJ, Notaras MJ, Albero R, Bouchekioua Y, Wayland N, Stankovic IN, Jain T, Gao S, Calderon DP, Castillo PE and Colak D. TITLE Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling JOURNAL Cell Rep 42 (4), 112375 (2023) PUBMED 37043347 REMARK GeneRIF: Circadian protein TIMELESS regulates synaptic function and memory by modulating cAMP signaling. REFERENCE 2 (residues 1 to 1196) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1196) AUTHORS Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH and Ptacek LJ. TITLE TIMELESS mutation alters phase responsiveness and causes advanced sleep phase JOURNAL Proc Natl Acad Sci U S A 116 (24), 12045-12053 (2019) PUBMED 31138685 REMARK GeneRIF: The mutation prevents TIM accumulation in the nucleus and has altered affinity for CRY2. REFERENCE 4 (residues 1 to 1196) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1196) AUTHORS Inaguma Y, Ito H, Hara A, Iwamoto I, Matsumoto A, Yamagata T, Tabata H and Nagata K. TITLE Morphological characterization of mammalian timeless in the mouse brain development JOURNAL Neurosci Res 92, 21-28 (2015) PUBMED 25448545 REMARK GeneRIF: The obtained results suggest that Tim is expressed in neuronal tissues in a spatiotemporally regulated manner and involved in developmental stage-specific neuronal functions. REFERENCE 6 (residues 1 to 1196) AUTHORS Dunlap JC. TITLE Molecular bases for circadian clocks JOURNAL Cell 96 (2), 271-290 (1999) PUBMED 9988221 REMARK Review article REFERENCE 7 (residues 1 to 1196) AUTHORS Jin X, Shearman LP, Weaver DR, Zylka MJ, de Vries GJ and Reppert SM. TITLE A molecular mechanism regulating rhythmic output from the suprachiasmatic circadian clock JOURNAL Cell 96 (1), 57-68 (1999) PUBMED 9989497 REFERENCE 8 (residues 1 to 1196) AUTHORS Koike N, Hida A, Numano R, Hirose M, Sakaki Y and Tei H. TITLE Identification of the mammalian homologues of the Drosophila timeless gene, Timeless1 JOURNAL FEBS Lett 441 (3), 427-431 (1998) PUBMED 9891984 REFERENCE 9 (residues 1 to 1196) AUTHORS Zylka MJ, Shearman LP, Levine JD, Jin X, Weaver DR and Reppert SM. TITLE Molecular analysis of mammalian timeless JOURNAL Neuron 21 (5), 1115-1122 (1998) PUBMED 9856466 REFERENCE 10 (residues 1 to 1196) AUTHORS Sangoram AM, Saez L, Antoch MP, Gekakis N, Staknis D, Whiteley A, Fruechte EM, Vitaterna MH, Shimomura K, King DP, Young MW, Weitz CJ and Takahashi JS. TITLE Mammalian circadian autoregulatory loop: a timeless ortholog and mPer1 interact and negatively regulate CLOCK-BMAL1-induced transcription JOURNAL Neuron 21 (5), 1101-1113 (1998) PUBMED 9856465 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC052884.1 and BC082770.1. Summary: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]. Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 3' coding region, compared to variant 4. This variant is distinct from but the same length as variant 3. The resulting isoform (1) lacks one aa near the C-terminus, compared to isoform 2, and is distinct from isoform 3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC082770.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1196 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 76.49 cM" Protein 1..1196 /product="protein timeless homolog isoform 1" /note="protein timeless homolog; mTim" /calculated_mol_wt=137244 Region 1..309 /region_name="Required for homodimerization and for interaction with CRY1 and CHEK1. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 24..284 /region_name="TIMELESS" /note="Timeless protein; pfam04821" /db_xref="CDD:428142" Site 281 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 647..674 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 810..949 /region_name="DNA-binding domain. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 996..1094 /region_name="Interaction with PARP1. /evidence=ECO:0000250|UniProtKB:Q9UNS1" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1002..1088 /region_name="TIMELESS_C" /note="Timeless protein C terminal region; pfam05029" /db_xref="CDD:428267" Site 1070 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1078..1196 /region_name="Required for nuclear localization. /evidence=ECO:0000269|PubMed:23418588" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1083 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1085 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Region 1087..1196 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" Site 1164 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UNS1; propagated from UniProtKB/Swiss-Prot (Q9R1X4.3)" CDS 1..1196 /gene="Timeless" /gene_synonym="Debt69; tim" /coded_by="NM_001136082.2:181..3771" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS48725.1" /db_xref="GeneID:21853" /db_xref="MGI:MGI:1321393" ORIGIN 1 mdlymmncel latcsalgyl eggtyhkepd clesvkdlir ylrhedetrd vrqqlgaaqi 61 lqsdllpilt qhrqdkplfd avirlmvnlt qpallcfgsv pkdssvrhhf lqvltylqay 121 keafasekaf gvlsetlyel lqlgwedrqe ednllieril llvrnilhvp anleqeksid 181 ddasihdrll waihlsgmdd lllflssssa eqqwslhvle iislmfrdqt peqlagvgqg 241 rlaqerstdv aelevlrqre maekraralq rgnrhsrfgg syivqglksi gekdvvfhkg 301 lhnlqnyssd lgkqprrvpk rrqaaqelsv hrrsvlnvrl flrdfcsefl encynplmga 361 vkdhllrera qqhdetyymw amaffmafnr aatfrpglvs etlsirtfhf veqnltnyye 421 mmltdrkeaa swarrmhlal kayqellatv nemdmcpdea vressriikn nifymmeyre 481 lflalfrkfd eryhprsflr dlvetthlfl kmlerfcrsr gnlmvqnkrk krkkkkkvqd 541 qgvafsqspg eleamwpala eqllqcaqdp elsvdpvvpf daasevpvee qrveamvriq 601 dcltagqapq alallrsare vwpegnafgs pvispgeemq llkqilstpl prqqepeegd 661 aeeeeeeeee eelqvvqvse kefnfleylk rfasstivra yvlllrsyrq nsahtnhcia 721 kmlhrlahgl gmeallfqls lfclfnrlls dpaaaaykel vtfakyiigk ffalaavnqk 781 afvellfwkn tavvremtqg ygsldsgsss hraplwspee eaqlqelyla hkdvegqdvv 841 etilahlkvv prtrkqvihh lvrmgladsv kefqkrkgtq ivlwtedqel elqrlfeefr 901 dsddvlgqim knitakrsra rvvdkllalg lvserrqlyk krrkklapsc mngeksprdp 961 wqedpeeede hlpedesede eseeglpsgq gqgssslsae nlgeslrqeg lsapllwlqs 1021 sliraandre edgcsqaipl vplteeneea meneqfqhll rklgirppss gqetfwripa 1081 klsstqlrrv aaslsqqene eereeepepg vpgeqgpsee hrtealrall sarkrkaglg 1141 pteeeatgee ewnsapkkrq lldsdeeedd egrrqavsgt prvhrkkrfq iededd // LOCUS NP_032079 539 aa linear ROD 07-OCT-2023 DEFINITION RNA-binding protein FXR1 isoform 3 [Mus musculus]. ACCESSION NP_032079 VERSION NP_032079.1 DBSOURCE REFSEQ: accession NM_008053.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 539) AUTHORS Zhou GF, Tang J, Ma YL, Fu X, Liu JY, Yang RZ, Zhang HS, Cai XH, Wang JW, Xie XY, Song L, Luo B, Chen J, Chen L, Deng XJ and Chen GJ. TITLE ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation JOURNAL Proc Natl Acad Sci U S A 120 (22), e2220148120 (2023) PUBMED 37216506 REMARK GeneRIF: ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation. REFERENCE 2 (residues 1 to 539) AUTHORS Corbett CB, St Paul A, Leigh T, Kelemen SE, Peluzzo AM, Okune RN, Eguchi S, Haines DS and Autieri MV. TITLE Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells JOURNAL Am J Pathol 193 (5), 638-653 (2023) PUBMED 37080662 REMARK GeneRIF: Genetic Deletion of FXR1 Reduces Intimal Hyperplasia and Induces Senescence in Vascular Smooth Muscle Cells. REFERENCE 3 (residues 1 to 539) AUTHORS St Paul A, Corbett C, Peluzzo A, Kelemen S, Okune R, Haines DS, Preston K, Eguchi S and Autieri MV. TITLE FXR1 regulates vascular smooth muscle cell cytoskeleton, VSMC contractility, and blood pressure by multiple mechanisms JOURNAL Cell Rep 42 (4), 112381 (2023) PUBMED 37043351 REFERENCE 4 (residues 1 to 539) AUTHORS Kang JY, Wen Z, Pan D, Zhang Y, Li Q, Zhong A, Yu X, Wu YC, Chen Y, Zhang X, Kou PC, Geng J, Wang YY, Hua MM, Zong R, Li B, Shi HJ, Li D, Fu XD, Li J, Nelson DL, Guo X, Zhou Y, Gou LT, Huang Y and Liu MF. TITLE LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs JOURNAL Science 377 (6607), eabj6647 (2022) PUBMED 35951695 REMARK GeneRIF: LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs. REFERENCE 5 (residues 1 to 539) AUTHORS Khamoui AV, Tokmina-Roszyk D, Feresin RG, Fields GB and Visavadiya NP. TITLE Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1 JOURNAL Proteomics 22 (10), e2100157 (2022) PUBMED 35289490 REMARK GeneRIF: Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1. REFERENCE 6 (residues 1 to 539) AUTHORS Schenck A, Bardoni B, Moro A, Bagni C and Mandel JL. TITLE A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P JOURNAL Proc Natl Acad Sci U S A 98 (15), 8844-8849 (2001) PUBMED 11438699 REFERENCE 7 (residues 1 to 539) AUTHORS Dube M, Huot ME and Khandjian EW. TITLE Muscle specific fragile X related protein 1 isoforms are sequestered in the nucleus of undifferentiated myoblast JOURNAL BMC Genet 1, 4 (2000) PUBMED 11178106 REMARK GeneRIF: Four FXR1 isoforms of molecular weight 70, 74, 78, 80 kDa are widely distributed in mouse organs, while in striated muscles these isoforms are replaced by proteins of 82 and 84 kDa containing an extra pocket of 27 amino acids. REFERENCE 8 (residues 1 to 539) AUTHORS Ceman S, Brown V and Warren ST. TITLE Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex JOURNAL Mol Cell Biol 19 (12), 7925-7932 (1999) PUBMED 10567518 REFERENCE 9 (residues 1 to 539) AUTHORS Kirkpatrick LL, McIlwain KA and Nelson DL. TITLE Alternative splicing in the murine and human FXR1 genes JOURNAL Genomics 59 (2), 193-202 (1999) PUBMED 10409431 REFERENCE 10 (residues 1 to 539) AUTHORS Coy JF, Sedlacek Z, Bachner D, Hameister H, Joos S, Lichter P, Delius H and Poustka A. TITLE Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1 JOURNAL Hum Mol Genet 4 (12), 2209-2218 (1995) PUBMED 8634689 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC115078.11 and AC068294.26. Transcript Variant: This variant (3) differs in the 3' UTR, and lacks an alternate in-frame segment in the mid-coding region and two alternate exons in the 3' coding region, compared to variant 1. The resulting protein (isoform 3, also known as isoform a) contains a distinct C-terminus and is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC019139.1, X90875.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..539 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 16.41 cM" Protein 1..539 /product="RNA-binding protein FXR1 isoform 3" /note="RNA-binding protein FXR1" /calculated_mol_wt=60685 Region 3..57 /region_name="Tudor_Agenet_FXR1_rpt1" /note="first Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20472" /db_xref="CDD:410543" Site order(10,14,16,32,36,38) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410543" Region 61..126 /region_name="Tudor_Agenet_FXR1_rpt2" /note="second Tudor-like Agenet domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd20475" /db_xref="CDD:410546" Site order(69,78,80,96,101,103) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:410546" Region 123..199 /region_name="KH_I_FXR1_rpt1" /note="first type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22504" /db_xref="CDD:411932" Region 218..280 /region_name="KH_I_FXR1_rpt2" /note="second type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22507" /db_xref="CDD:411935" Site order(228,230..232,234..238,241..242,245..246,252..255) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411935" Site 235..238 /site_type="other" /note="GXXG motif" /db_xref="CDD:411935" Region 281..358 /region_name="KH_I_FXR1_rpt3" /note="third type I K homology (KH) RNA-binding domain found in fragile X mental retardation syndrome-related protein 1 (FXR1) and similar proteins; cd22510" /db_xref="CDD:411938" Site order(291,293..295,297..301,304..305,308..309,315..318) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411938" Site 298..301 /site_type="other" /note="GXXG motif" /db_xref="CDD:411938" Region 354..438 /region_name="FXMRP1_C_core" /note="Fragile X-related 1 protein core C terminal; pfam12235" /db_xref="CDD:432414" Region 462..535 /region_name="FXR_C1" /note="Fragile X-related 1 protein C-terminal region 2; pfam16096" /db_xref="CDD:435133" CDS 1..539 /gene="Fxr1" /gene_synonym="1110050J02Rik; 9530073J07Rik; Fxr1h; Fxr1p" /coded_by="NM_008053.3:16..1635" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS50890.1" /db_xref="GeneID:14359" /db_xref="MGI:MGI:104860" ORIGIN 1 maeltvevrg sngafykgfi kdvhedsltv vfennwqper qvpfnevrlp pppdikkeis 61 egdevevysr andqepcgww lakvrmmkge fyvieyaacd atyneivtfe rlrpvnqnkt 121 vkkntffkct vdvpedlrea canenahkdf kkavgacrif yhpettqlmi lsaseatvkr 181 vnilsdmhlr sirtklmlms rneeatkhle ctkqlaaafh eefvvredlm glaigthgsn 241 iqqarkvpgv taieldedtg tfriygesae avkkargfle fvedfiqvpr nlvgkvigkn 301 gkviqeivdk sgvvrvrieg dnenklpred gmvpfvfvgt kesignvqvl leyhiaylke 361 veqlrmerlq ideqlrqigs rsysgrgrgr rgpnytsgyg tnselsnpse teserkdels 421 dwslageddr etrhqrdsrr rpggrgrsvs ggrgrggprg gkssissvlk dpdsnpysll 481 dntesdqtad tdaseshhst nrrrrsrrrr tdedavlmdg ltesdtasvn englgkrcd // LOCUS NP_851411 822 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 2 [Mus musculus]. ACCESSION NP_851411 VERSION NP_851411.1 DBSOURCE REFSEQ: accession NM_181066.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 822) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 822) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 822) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 822) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 822) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (2) has a shorter N-terminus, compared to isoform 3. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript from the same strain was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. ##Evidence-Data-START## Transcript exon combination :: AK085091.1, SRR13862062.102798.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..822 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..822 /product="BRCA1-associated ATM activator 1 isoform 2" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=88955 Region 100..200 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 448..481 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 495..531 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 501..530 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 540..575 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 544..576 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 592..619 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 630..657 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Site 743 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..822 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_181066.4:71..2539" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS19823.1" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqqgelll glfgesgapg waawsipsvr 121 sgwiqglcyl ahhpsalhfl adsgavdtlf slqgdpslfv asaasqllvh ilalsmqgga 181 pgspvpeaaa wpmcaqkivn hvdeslhaka tpqvtqalnv ltttfgrchn pwtgvlwerl 241 sppvarlfer dpipavhalm dlllsvarsp vlnfaacglw emlaqtlsrl spiqagplal 301 gtlklqhcpq elrtqafgvl lqplacilka ttqapgppgl ldgtvgsllt vdillasksa 361 cvgllcqtla hleelqmlpq cpspwpqvhl lqaaltilhl cdgsadpsss aggrlcgtlg 421 gcvrvqraal dflgtlsqgt splelvlevf avllktlesp esspmvlkka fqatlrwlqn 481 phktpsssdl ssdallflge lfpilqkrlc spcwevrdsa leflthlirh wggqadfrea 541 lrssevptla lqllqdpesy vrasavgaag qlssqglqaa paspensqaq qgllmdlmhi 601 lstdsegfpr ravlrvftdw lrdghadvvr dtewfvatvl qavsrdldwe vrvqglelar 661 vfltqalgqp slhcpytvgl prassprphp eflqtlcrlp lfefafcall dcdrpvaqka 721 cdlllflrdk tvpcssprea gdspnsasve aalqrwrege qaqplgdldp eamlailral 781 dleglqgrla kssdhveksp qsllqdmlat vgvleenead cy // LOCUS NP_001411575 821 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 5 [Mus musculus]. ACCESSION NP_001411575 XP_030110300 VERSION NP_001411575.1 DBSOURCE REFSEQ: accession NM_001424646.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 821) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 821) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 821) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 821) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 821) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. On Oct 1, 2023 this sequence version replaced XP_030110300.1. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.1022936.1, SRR13948564.444882.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..821 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..821 /product="BRCA1-associated ATM activator 1 isoform 5" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=88827 Region 99..199 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 494..530 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 543..575 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Site 742 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..821 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_001424646.1:71..2536" /note="isoform 5 is encoded by transcript variant 7" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqgelllg lfgesgapgw aawsipsvrs 121 gwiqglcyla hhpsalhfla dsgavdtlfs lqgdpslfva saasqllvhi lalsmqggap 181 gspvpeaaaw pmcaqkivnh vdeslhakat pqvtqalnvl tttfgrchnp wtgvlwerls 241 ppvarlferd pipavhalmd lllsvarspv lnfaacglwe mlaqtlsrls piqagplalg 301 tlklqhcpqe lrtqafgvll qplacilkat tqapgppgll dgtvgslltv dillasksac 361 vgllcqtlah leelqmlpqc pspwpqvhll qaaltilhlc dgsadpsssa ggrlcgtlgg 421 cvrvqraald flgtlsqgts plelvlevfa vllktlespe sspmvlkkaf qatlrwlqnp 481 hktpsssdls sdallflgel fpilqkrlcs pcwevrdsal eflthlirhw ggqadfreal 541 rssevptlal qllqdpesyv rasavgaagq lssqglqaap aspensqaqq gllmdlmhil 601 stdsegfprr avlrvftdwl rdghadvvrd tewfvatvlq avsrdldwev rvqglelarv 661 fltqalgqps lhcpytvglp rassprphpe flqtlcrlpl fefafcalld cdrpvaqkac 721 dlllflrdkt vpcsspreag dspnsasvea alqrwregeq aqplgdldpe amlailrald 781 leglqgrlak ssdhvekspq sllqdmlatv gvleeneadc y // LOCUS NP_001411574 544 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 4 [Mus musculus]. ACCESSION NP_001411574 VERSION NP_001411574.1 DBSOURCE REFSEQ: accession NM_001424645.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 544) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 544) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 544) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 544) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 544) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR13948564.1050097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849376, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..544 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..544 /product="BRCA1-associated ATM activator 1 isoform 4" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=58463 Region 100..200 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 495..531 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..544 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_001424645.1:71..1705" /note="isoform 4 is encoded by transcript variant 6" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqqgelll glfgesgapg waawsipsvr 121 sgwiqglcyl ahhpsalhfl adsgavdtlf slqgdpslfv asaasqllvh ilalsmqgga 181 pgspvpeaaa wpmcaqkivn hvdeslhaka tpqvtqalnv ltttfgrchn pwtgvlwerl 241 sppvarlfer dpipavhalm dlllsvarsp vlnfaacglw emlaqtlsrl spiqagplal 301 gtlklqhcpq elrtqafgvl lqplacilka ttqapgppgl ldgtvgsllt vdillasksa 361 cvgllcqtla hleelqmlpq cpspwpqvhl lqaaltilhl cdgsadpsss aggrlcgtlg 421 gcvrvqraal dflgtlsqgt splelvlevf avllktlesp esspmvlkka fqatlrwlqn 481 phktpsssdl ssdallflge lfpilqkrlc spcwevrdsa leflthlirh wggpthgpya 541 ypvh // LOCUS NP_001411577 830 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 7 [Mus musculus]. ACCESSION NP_001411577 XP_006504739 VERSION NP_001411577.1 DBSOURCE REFSEQ: accession NM_001424648.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 830) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 830) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 830) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 830) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 830) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. On Oct 1, 2023 this sequence version replaced XP_006504739.1. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.10480.1, SRR17784651.110767.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..830 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..830 /product="BRCA1-associated ATM activator 1 isoform 7" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=89576 Region 100..200 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 503..539 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 552..584 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Site 751 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..830 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_001424648.1:71..2563" /note="isoform 7 is encoded by transcript variant 9" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqqgelll glfgesgapg waawsipsvr 121 sgwiqglcyl ahhpsalhfl adsgavdtlf slqgdpslfv asaasqllvh ilalsmqgga 181 pgspvpeaaa wpmcaqkivn hvdeslhaka tpqvtqalnv ltttfgrchn pwtgvlwerl 241 sppvarlfer dpipavhalm dlllsvarsg gcgdsgspvl nfaacglwem laqtlsrlsp 301 iqagplalgt lklqhcpqel rtqafgvllq placilkatt qapgppglld gtvgslltvd 361 illasksacv gllcqtlahl eelqmlpqcp spwpqvhllq aaltilhlcd gsadpsssag 421 grlcgtlggc vrvqraaldf lgtlsqgtsp lelvlevfav llktlespes spmvlkkafq 481 atlrwlqnph ktpsssdlss dallflgelf pilqkrlcsp cwevrdsale flthlirhwg 541 gqadfrealr ssevptlalq llqdpesyvr asavgaagql ssqglqaapa spensqaqqg 601 llmdlmhils tdsegfprra vlrvftdwlr dghadvvrdt ewfvatvlqa vsrdldwevr 661 vqglelarvf ltqalgqpsl hcpytvglpr assprphpef lqtlcrlplf efafcalldc 721 drpvaqkacd lllflrdktv pcsspreagd spnsasveaa lqrwregeqa qplgdldpea 781 mlailraldl eglqgrlaks sdhvekspqs llqdmlatvg vleeneadcy // LOCUS NP_001411573 822 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 2 [Mus musculus]. ACCESSION NP_001411573 VERSION NP_001411573.1 DBSOURCE REFSEQ: accession NM_001424644.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 822) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 822) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 822) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 822) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 822) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.171589.1, SRR1660813.112899.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..822 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..822 /product="BRCA1-associated ATM activator 1 isoform 2" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=88955 Region 100..200 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 495..531 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 544..576 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Site 743 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..822 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_001424644.1:531..2999" /note="isoform 2 is encoded by transcript variant 5" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqqgelll glfgesgapg waawsipsvr 121 sgwiqglcyl ahhpsalhfl adsgavdtlf slqgdpslfv asaasqllvh ilalsmqgga 181 pgspvpeaaa wpmcaqkivn hvdeslhaka tpqvtqalnv ltttfgrchn pwtgvlwerl 241 sppvarlfer dpipavhalm dlllsvarsp vlnfaacglw emlaqtlsrl spiqagplal 301 gtlklqhcpq elrtqafgvl lqplacilka ttqapgppgl ldgtvgsllt vdillasksa 361 cvgllcqtla hleelqmlpq cpspwpqvhl lqaaltilhl cdgsadpsss aggrlcgtlg 421 gcvrvqraal dflgtlsqgt splelvlevf avllktlesp esspmvlkka fqatlrwlqn 481 phktpsssdl ssdallflge lfpilqkrlc spcwevrdsa leflthlirh wggqadfrea 541 lrssevptla lqllqdpesy vrasavgaag qlssqglqaa paspensqaq qgllmdlmhi 601 lstdsegfpr ravlrvftdw lrdghadvvr dtewfvatvl qavsrdldwe vrvqglelar 661 vfltqalgqp slhcpytvgl prassprphp eflqtlcrlp lfefafcall dcdrpvaqka 721 cdlllflrdk tvpcssprea gdspnsasve aalqrwrege qaqplgdldp eamlailral 781 dleglqgrla kssdhveksp qsllqdmlat vgvleenead cy // LOCUS NP_001411576 829 aa linear ROD 08-OCT-2023 DEFINITION BRCA1-associated ATM activator 1 isoform 6 [Mus musculus]. ACCESSION NP_001411576 XP_006504740 VERSION NP_001411576.1 DBSOURCE REFSEQ: accession NM_001424647.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 829) AUTHORS Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J and Tan SS. TITLE Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response JOURNAL J Biol Chem 290 (11), 7141-7150 (2015) PUBMED 25631046 REMARK GeneRIF: Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. REFERENCE 2 (residues 1 to 829) AUTHORS So EY and Ouchi T. TITLE The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR JOURNAL J Cancer Biol Res 1 (1) (2013) PUBMED 25657994 REFERENCE 3 (residues 1 to 829) AUTHORS So EY and Ouchi T. TITLE Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit JOURNAL Exp Ther Med 2 (3), 443-447 (2011) PUBMED 22977523 REFERENCE 4 (residues 1 to 829) AUTHORS Ouchi M and Ouchi T. TITLE Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1 JOURNAL Genes Cancer 1 (12), 1211-1214 (2010) PUBMED 21779444 REFERENCE 5 (residues 1 to 829) AUTHORS Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J and Hayashizaki Y. TITLE Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia JOURNAL Genome Res 13 (6B), 1273-1289 (2003) PUBMED 12819125 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC110253.10. On Oct 1, 2023 this sequence version replaced XP_006504740.1. Summary: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR17784647.173530.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..829 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 79.25 cM" Protein 1..829 /product="BRCA1-associated ATM activator 1 isoform 6" /note="BRCA1-associated protein required for ATM activation protein 1" /calculated_mol_wt=89447 Region 99..199 /region_name="Required for interaction with NDFIP1. /evidence=ECO:0000250|UniProtKB:Q6PJG6" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 502..538 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Region 551..583 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" Site 750 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8C3R1.1)" CDS 1..829 /gene="Brat1" /gene_synonym="Baat1" /coded_by="NM_001424647.1:71..2560" /note="isoform 6 is encoded by transcript variant 8" /db_xref="GeneID:231841" /db_xref="MGI:MGI:1891679" ORIGIN 1 mdpecsrllp alcavladpr qlvaddtcle klldwfktvt eaesslqllq dhpclmells 61 hvlkpqdvsp rvlsfalrlv gvfaaqedcf eylqgelllg lfgesgapgw aawsipsvrs 121 gwiqglcyla hhpsalhfla dsgavdtlfs lqgdpslfva saasqllvhi lalsmqggap 181 gspvpeaaaw pmcaqkivnh vdeslhakat pqvtqalnvl tttfgrchnp wtgvlwerls 241 ppvarlferd pipavhalmd lllsvarsgg cgdsgspvln faacglweml aqtlsrlspi 301 qagplalgtl klqhcpqelr tqafgvllqp lacilkattq apgppglldg tvgslltvdi 361 llasksacvg llcqtlahle elqmlpqcps pwpqvhllqa altilhlcdg sadpsssagg 421 rlcgtlggcv rvqraaldfl gtlsqgtspl elvlevfavl lktlespess pmvlkkafqa 481 tlrwlqnphk tpsssdlssd allflgelfp ilqkrlcspc wevrdsalef lthlirhwgg 541 qadfrealrs sevptlalql lqdpesyvra savgaagqls sqglqaapas pensqaqqgl 601 lmdlmhilst dsegfprrav lrvftdwlrd ghadvvrdte wfvatvlqav srdldwevrv 661 qglelarvfl tqalgqpslh cpytvglpra ssprphpefl qtlcrlplfe fafcalldcd 721 rpvaqkacdl llflrdktvp csspreagds pnsasveaal qrwregeqaq plgdldpeam 781 lailraldle glqgrlakss dhvekspqsl lqdmlatvgv leeneadcy // LOCUS NP_001297615 384 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 5 [Mus musculus]. ACCESSION NP_001297615 XP_006535014 XP_017176379 VERSION NP_001297615.1 DBSOURCE REFSEQ: accession NM_001310686.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 384) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 384) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 384) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 384) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 384) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 384) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 384) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 384) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 384) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 384) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On or before Jun 6, 2022 this sequence version replaced XP_017176379.1, XP_006535014.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (5) uses an alternate acceptor splice site in the 5' region and at the 3' terminal exon compared to variant 1. These differences result in translation initiation from an in-frame, downstream start codon, and an isoform (5) with a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7652917.1017145.1, SRR1660817.46366.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..384 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..384 /product="mitogen-activated protein kinase 10 isoform 5" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=43966 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..384 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001310686.3:658..1812" /note="isoform 5 is encoded by transcript variant 5" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsa qvqq // LOCUS NP_001277655 619 aa linear ROD 09-OCT-2023 DEFINITION AT-rich interactive domain-containing protein 5A isoform 5 [Mus musculus]. ACCESSION NP_001277655 VERSION NP_001277655.1 DBSOURCE REFSEQ: accession NM_001290726.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 619) AUTHORS Li X, Hua S, Fang D, Fei X, Tan Z, Zheng F, Wang W and Fang M. TITLE RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice JOURNAL Clin Exp Med 23 (6), 2167-2179 (2023) PUBMED 36454447 REMARK GeneRIF: RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice. REFERENCE 2 (residues 1 to 619) AUTHORS Taylor TC, Li Y, Li DD, Majumder S, McGeachy MJ, Biswas PS, Gingras S and Gaffen SL. TITLE Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense JOURNAL J Immunol 209 (6), 1138-1145 (2022) PUBMED 35940634 REMARK GeneRIF: Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense. REFERENCE 3 (residues 1 to 619) AUTHORS Catela C, Chen Y, Weng Y, Wen K and Kratsios P. TITLE Control of spinal motor neuron terminal differentiation through sustained Hoxc8 gene activity JOURNAL Elife 11, e70766 (2022) PUBMED 35315772 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 619) AUTHORS Nyati KK, Hashimoto S, Singh SK, Tekguc M, Metwally H, Liu YC, Okuzaki D, Gemechu Y, Kang S and Kishimoto T. TITLE The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway JOURNAL Cancer Lett 520, 295-306 (2021) PUBMED 34389433 REMARK GeneRIF: The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway. REFERENCE 5 (residues 1 to 619) AUTHORS Chalise JP, Hashimoto S, Parajuli G, Kang S, Singh SK, Gemechu Y, Metwally H, Nyati KK, Dubey PK, Zaman MM, Nagahama Y, Hamza H, Masuda K and Kishimoto T. TITLE Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis JOURNAL Proc Natl Acad Sci U S A 116 (30), 15128-15133 (2019) PUBMED 31289228 REMARK GeneRIF: Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis. REFERENCE 6 (residues 1 to 619) AUTHORS Zaman MM, Masuda K, Nyati KK, Dubey PK, Ripley B, Wang K, Chalise JP, Higa M, Hanieh H and Kishimoto T. TITLE Arid5a exacerbates IFN-gamma-mediated septic shock by stabilizing T-bet mRNA JOURNAL Proc Natl Acad Sci U S A 113 (41), 11543-11548 (2016) PUBMED 27671645 REMARK GeneRIF: Arid5a deficiency resulted in decreased levels of IFN-gamma under Th1 cell conditions, in which T-box expressed in T cells (T-bet) mRNA expression was inhibited. REFERENCE 7 (residues 1 to 619) AUTHORS Masuda K, Ripley B, Nyati KK, Dubey PK, Zaman MM, Hanieh H, Higa M, Yamashita K, Standley DM, Mashima T, Katahira M, Okamoto T, Matsuura Y, Takeuchi O and Kishimoto T. TITLE Arid5a regulates naive CD4+ T cell fate through selective stabilization of Stat3 mRNA JOURNAL J Exp Med 213 (4), 605-619 (2016) PUBMED 27022145 REMARK GeneRIF: T cell-intrinsic role of Arid5a on fate decisions of naive CD4(+)T cells through selective stabilization of Stat3 mRNA. REFERENCE 8 (residues 1 to 619) AUTHORS Masuda K, Ripley B, Nishimura R, Mino T, Takeuchi O, Shioi G, Kiyonari H and Kishimoto T. TITLE Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo JOURNAL Proc Natl Acad Sci U S A 110 (23), 9409-9414 (2013) PUBMED 23676272 REMARK GeneRIF: Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo. REFERENCE 9 (residues 1 to 619) AUTHORS Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R and Yoneda T. TITLE Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription JOURNAL Mol Biol Cell 22 (8), 1300-1311 (2011) PUBMED 21346191 REMARK GeneRIF: AT-rich interactive domain-containing protein 5a (Arid5a) cooperates with Sox9 to stimulate chondrocyte-specific transcription. REFERENCE 10 (residues 1 to 619) AUTHORS Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E. TITLE Nomenclature of the ARID family of DNA-binding proteins JOURNAL Genomics 86 (2), 242-251 (2005) PUBMED 15922553 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY196834.1, AK150170.1, AC132456.5, AK149839.1 and AK029237.1. Transcript Variant: This variant (5) contains an alternate 5' exon and initiates translation from an alternate start codon, compared to variant 1. The encoded protein (isoform 5) has a longer and distinct N-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150170.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..619 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 15.2 cM" Protein 1..619 /product="AT-rich interactive domain-containing protein 5A isoform 5" /note="AT rich interactive domain 5A (Mrf1 like); modulator recognition factor I; AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like)" /calculated_mol_wt=67033 Region 85..167 /region_name="ARID_ARID5A" /note="ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 5A (ARID5A) and similar proteins; cd16884" /db_xref="CDD:350648" Site order(102..108,133,135..136,139,150,152..154,156) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:350648" CDS 1..619 /gene="Arid5a" /gene_synonym="D430024K22Rik; Mrf1" /coded_by="NM_001290726.1:109..1968" /note="isoform 5 is encoded by transcript variant 5" /db_xref="CCDS:CCDS78560.1" /db_xref="GeneID:214855" /db_xref="MGI:MGI:2443039" ORIGIN 1 mlkggrpdlc vvnslielqk lklhvdaehq tappakgnte qseegdlpql pvspkpddeq 61 srsqsptqlq dspeaggeqe eeqaflvsly kfmkerhtpi ervphlgfkq inlwkiykav 121 eklgayelvt grrlwknvyd elggspgsts aatctrrhye rlvlpyvrhl kgeddkplpp 181 tkprkqykma kelrgddgtt eklkkakdse errveqttpg ktksdatgqt qlpcqgssrd 241 steqlgpvsg psppltgass cpeaykrlls sfyckgahgi msplakkkll aqvskaealq 301 cqeegcrhga rspnkdiqds pqnlrgpaen sehqltpreg lqapggstrm eaqvgpcpta 361 pmfsgcfhay ptevlkpvsq hprdffsglk drvllgppgk eegpttkesh lvwggdanhp 421 safhkgstrk rsfypkpkac wvspmakvpt erpgapsphp sspglgskrg leeegfahgg 481 kklravspfl kevdsketgg kpaapglavs cllgptpgpt ppeayrgtml rcplnftgsa 541 dplkgqaslp fsplvipafp ahllattgss pmaaslmhfp ptpydavlrn rlgpassawh 601 mppvttyaap hffhlntkl // LOCUS NP_001351353 522 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 5 [Mus musculus]. ACCESSION NP_001351353 XP_017168126 VERSION NP_001351353.1 DBSOURCE REFSEQ: accession NM_001364424.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 522) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 522) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 522) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 522) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 522) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 522) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 522) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 522) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 522) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 522) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. On Jun 16, 2018 this sequence version replaced XP_017168126.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR6116558.92618.1, SRR1660815.141289.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..522 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..522 /product="pro-neuregulin-1, membrane-bound isoform isoform 5" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=56834 Region 327..>484 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..522 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364424.1:641..2209" /note="isoform 5 is encoded by transcript variant 5" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfykhlgi efmeaeelyq 301 krvltitgic iallvvgimc vvaycktkkq rqklhdrlrq slrsernnmv niangphhpn 361 pppenvqlvn qyvsknviss ehiverevet sfstshytst ahhsttvtqt pshswsnght 421 esiiseshsv immssvensr hsspaggprg rlhglggpre cnsflrhare tpdsyrdsph 481 serhnliael rrnkayrskc mqielsathl rsssiphlgf il // LOCUS NP_001281072 1169 aa linear ROD 09-OCT-2023 DEFINITION homeodomain-interacting protein kinase 2 isoform 3 [Mus musculus]. ACCESSION NP_001281072 XP_006505667 VERSION NP_001281072.1 DBSOURCE REFSEQ: accession NM_001294143.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1169) AUTHORS Wang G, Ma Z, Song C, Wang X and Zhou Z. TITLE miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis JOURNAL Cell Signal 111, 110840 (2023) PUBMED 37543099 REMARK GeneRIF: miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis. REFERENCE 2 (residues 1 to 1169) AUTHORS Zhong W, Hong C, Dong Y, Li Y, Xiao C and Liu X. TITLE ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells JOURNAL Genes (Basel) 13 (12), 2244 (2022) PUBMED 36553510 REMARK GeneRIF: ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1169) AUTHORS Zhou Q, Meng D, Li F, Zhang X, Liu L, Zhu Y, Liu S, Xu M, Deng J, Lei Z, Sluijter JPG and Xiao J. TITLE Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling JOURNAL EBioMedicine 85, 104274 (2022) PUBMED 36182775 REMARK GeneRIF: Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling. REFERENCE 4 (residues 1 to 1169) AUTHORS Cheung KL, Jaganathan A, Hu Y, Xu F, Lejeune A, Sharma R, Caescu CI, Meslamani J, Vincek A, Zhang F, Lee K, Zaware N, Qayum AA, Ren C, Kaplan MH, He JC, Xiong H and Zhou MM. TITLE HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation JOURNAL Proc Natl Acad Sci U S A 119 (14), e2117112119 (2022) PUBMED 35344430 REMARK GeneRIF: HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation. REFERENCE 5 (residues 1 to 1169) AUTHORS Yu Q, Liu L, Zhang X, Chang H, Ma S, Xie Z, Tang S, Ju X, Zhu H, Shen B and Zhang Q. TITLE MiR-221-3p targets HIPK2 to promote diabetic wound healing JOURNAL Microvasc Res 140, 104306 (2022) PUBMED 34973299 REMARK GeneRIF: MiR-221-3p targets HIPK2 to promote diabetic wound healing. REFERENCE 6 (residues 1 to 1169) AUTHORS Hofmann TG, Mincheva A, Lichter P, Droge W and Schmitz ML. TITLE Human homeodomain-interacting protein kinase-2 (HIPK2) is a member of the DYRK family of protein kinases and maps to chromosome 7q32-q34 JOURNAL Biochimie 82 (12), 1123-1127 (2000) PUBMED 11120354 REFERENCE 7 (residues 1 to 1169) AUTHORS Wang W, Link V and Green JM. TITLE Identification and cloning of a CD43-associated serine/threonine kinase JOURNAL Cell Immunol 205 (1), 34-39 (2000) PUBMED 11078605 REFERENCE 8 (residues 1 to 1169) AUTHORS Ebling FJ, Brooks AN, Cronin AS, Ford H and Kerr JB. TITLE Estrogenic induction of spermatogenesis in the hypogonadal mouse JOURNAL Endocrinology 141 (8), 2861-2869 (2000) PUBMED 10919273 REFERENCE 9 (residues 1 to 1169) AUTHORS Kim YH, Choi CY and Kim Y. TITLE Covalent modification of the homeodomain-interacting protein kinase 2 (HIPK2) by the ubiquitin-like protein SUMO-1 JOURNAL Proc Natl Acad Sci U S A 96 (22), 12350-12355 (1999) PUBMED 10535925 REFERENCE 10 (residues 1 to 1169) AUTHORS Kim YH, Choi CY, Lee SJ, Conti MA and Kim Y. TITLE Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors JOURNAL J Biol Chem 273 (40), 25875-25879 (1998) PUBMED 9748262 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154016.2, AF170301.1 and BM122543.2. On Jun 25, 2014 this sequence version replaced XP_006505667.1. Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region compared to variant 2. The encoded isoform (3) is shorter than isoform 2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF170301.1, BC031904.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1169 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 17.85 cM" Protein 1..1169 /product="homeodomain-interacting protein kinase 2 isoform 3" /EC_number="2.7.11.1" /note="nuclear body-associated kinase 1; sialophorin tail-associated nuclear serine/threonine-protein kinase" /calculated_mol_wt=127546 Region 183..537 /region_name="STKc_HIPK2" /note="Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 2; cd14227" /db_xref="CDD:271129" Site order(205..209,213,226,228,242,261,277..280,283,285..286, 324,326,328..329,331,346,349,359,361..364,366,403) /site_type="active" /db_xref="CDD:271129" Site order(205..209,213,226,228,261,277..280,283,324,326, 328..329,331,346) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271129" Site order(242,285,324,326,349,359,361..364,366,403) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271129" Site 345..366 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271129" CDS 1..1169 /gene="Hipk2" /gene_synonym="1110014O20Rik; B230339E18Rik; Stank" /coded_by="NM_001294143.1:374..3883" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS80527.1" /db_xref="GeneID:15258" /db_xref="MGI:MGI:1314872" ORIGIN 1 mapvyegmas hvqvfsphtl qssafcsvkk lkvepssnwd mtgygshskv ysqsknipps 61 qpasttvsts lpipnpslpy eqtiifpgst ghivvtsass tsvtgqvlgg phnlmrrstv 121 slldtyqkcg lkrkseeien tssvqiieeh ppmiqnnasg atvatattst atsknsgsns 181 egdyqlvqhe vlcsmtntye vleflgrgtf gqvvkcwkrg tneivaikil knhpsyarqg 241 qievsilarl stesaddynf vrayecfqhk nhtclvfeml eqnlydflkq nkfsplplky 301 irpvlqqvat almklkslgl ihadlkpeni mlvdpsrqpy rvkvidfgsa shvskavcst 361 ylqsryyrap eiilglpfce aidmwslgcv iaelflgwpl ypgaseydqi ryisqtqglp 421 aeyllsagtk ttrffnrdtd spyplwrlkt pddheaetgi kskearkyif nclddmaqvn 481 mttdlegsdm lvekadrref idllkkmlti dadkrvtpie tlnhpfvtmt hlldfphsah 541 vkscfqnmei ckrrvnmydt vnqsktpfit hvapststnl tmtfnnqltt vhnqpsaasm 601 aavaprsmpl qtgtaqicar pdpfqqaliv cppgfqglqa spskhagysv rmenavpivt 661 qapgaqplqi qpgllaqqaw pggaqqillp pawqqltgva thtsvqhaav ipetmagtqq 721 ladwrnthah gshynpimqq palltghvtl paaqplnvgv ahvmrqqpts ttssrkskqh 781 qssvrnvstc evtssqaiss pqrskrvken tpprcamvhs spacstsvtc gwgdvasstt 841 rerqrqtivi pdtpsptvsv itissdtdee eeqkhaptst vskqrknvis cvtvhdspys 901 dsssntspys vqqrtghngt ntldtkggle nhctgnprti ivpplktqas evlvecdslg 961 paisashhss sfkskssstv tstsghssgs ssgaiayrqq rpgphfqqqq plnlsqaqqh 1021 maadrtgshr rqqayitptm aqapytfphn spshgtvhph laaaahlptq phlytytapt 1081 algstgtvah lvasqgsarh tvqhtaypas ivhqvpvsmg prvlpsptih psqypaqfah 1141 qtyisaspas tvytgyplsp akvnqypyi // LOCUS NP_001351563 483 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 2 [Mus musculus]. ACCESSION NP_001351563 XP_006516213 VERSION NP_001351563.1 DBSOURCE REFSEQ: accession NM_001364634.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 483) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 483) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 483) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 483) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 483) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 483) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 483) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 483) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 483) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 483) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2, AC108802.15 and CT009504.11. On Jun 26, 2018 this sequence version replaced XP_006516213.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.26157.1, SRR1660819.28537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..483 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..483 /product="RNA-binding protein Nova-1 isoform 2" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=49150 Region 49..121 /region_name="KH-I_NOVA_rpt1" /note="first type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22435" /db_xref="CDD:411863" Site order(61..63,65..69,72..73,83..85,87..89,98) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411863" Region 148..217 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(159..161,163..167,170..171,181..183,185..187,195) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 398..468 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(406..407,409..411,413..417,420..421,431..437,439, 444,446) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..483 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364634.1:17..1468" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mmaaapiqqn gthtgvpidl dppdsrkrpl eappeagstk rtntgedgqy flkvlipsya 61 agsiigkggq tivqlqketg atiklskskd fypgttervc liqgtiealn avhgfiaeki 121 rempqnvakt epvsilqpqt tvnpdrikqv kiivpnstag liigkggatv kaimeqsgaw 181 vqlsqkpdgi nlqervvtvs gepeqnrkav eliiqkiqed pqsgsclnis yanvtgpvan 241 snptgspyan taevlptaaa aagllghanl agvaafpavl sgftgndlva itsalntlas 301 ygynlntlgl glsqaaatga laaaaasanp aaaaanllat yaseasasgs taggtagtfa 361 lgslaaataa tngyfgaasp laasailgte kstdgskdvv eiavpenlvg ailgkggktl 421 veyqeltgar iqiskkgefv pgtrnrkvti tgtpaatqaa qylitqrity eqgvraanpq 481 kvg // LOCUS NP_001344566 763 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 3 [Mus musculus]. ACCESSION NP_001344566 XP_006523991 VERSION NP_001344566.1 DBSOURCE REFSEQ: accession NM_001357637.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 763) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 763) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 763) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 763) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 763) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 763) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 763) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 763) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 763) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 763) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154796.2, AC131975.28 and AW045567.1. On Nov 4, 2017 this sequence version replaced XP_006523991.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.101744.1, SRR11927934.5132987.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..763 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..763 /product="DNA-binding protein SATB1 isoform 3" /note="DNA-binding protein Satb1" /calculated_mol_wt=85621 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Site 637 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 644..701 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(646..649,651,669,675,688,690..691,694..695,697..699, 701..702) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(647,650,691,694..695,698) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..763 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001357637.1:452..2743" /note="isoform 3 is encoded by transcript variant 7" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqpppp ppqpqpqpqa gprlpprqpt vassaesdee nrqktrprtk isvealgilq 661 sfiqdvglyp deeaiqtlsa qldlpkytii kffqnqryyl khhgklkdns glevdvaeyk 721 deellkdlee svqdknantl fsvkleeels vegstdvnad lkd // LOCUS NP_001351351 692 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 3 [Mus musculus]. ACCESSION NP_001351351 XP_017168125 VERSION NP_001351351.1 DBSOURCE REFSEQ: accession NM_001364422.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 692) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 692) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 692) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 692) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 692) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 692) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 692) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 692) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 692) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 692) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. On Jun 16, 2018 this sequence version replaced XP_017168125.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.81953.1, SRR7345562.726293.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..692 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..692 /product="pro-neuregulin-1, membrane-bound isoform isoform 3" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=75417 Region 245..275 /region_name="EGF" /note="EGF-like domain; pfam00008" /db_xref="CDD:394967" Region 319..674 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..692 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364422.1:641..2719" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfykaeel yqkrvltitg 301 iciallvvgi mcvvaycktk kqrqklhdrl rqslrsernn mvniangphh pnpppenvql 361 vnqyvsknvi ssehiverev etsfstshyt stahhsttvt qtpshswsng htesiisesh 421 svimmssven srhsspaggp rgrlhglggp recnsflrha retpdsyrds phseryvsam 481 ttparmspvd fhtpsspksp psemsppvss mtvsmpsvav spfveeerpl llvtpprlre 541 kkydhhpqql nsfhhnpahq stslppsplr ivedeeyett qeyepiqepi kkvtnsrrak 601 rtkpnghian rlemdsnpss vssnsesete dervgedtpf lgiqnplaas levapafrla 661 esrtnpagrf stqeelqarl ssvianqdpi av // LOCUS NP_001349211 534 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 8 [Mus musculus]. ACCESSION NP_001349211 XP_017173277 VERSION NP_001349211.1 DBSOURCE REFSEQ: accession NM_001362282.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 534) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 534) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 534) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 534) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 534) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 534) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 534) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 534) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 534) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173277.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.310148.1, SRR1660819.5606.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..534 /product="CUGBP Elav-like family member 4 isoform 8" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56829 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..>443 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..534 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362282.1:531..2135" /note="isoform 8 is encoded by transcript variant 14" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt 481 drhpgherlp drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgrml nglh // LOCUS NP_109636 930 aa linear ROD 09-OCT-2023 DEFINITION endoplasmic reticulum aminopeptidase 1 precursor [Mus musculus]. ACCESSION NP_109636 VERSION NP_109636.1 DBSOURCE REFSEQ: accession NM_030711.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 930) AUTHORS Ryu HM, Islam SMS, Sayeed HM, Babita R, Seong JK, Lee H and Sohn S. TITLE Characterization of immune responses associated with ERAP-1 expression in HSV-induced Behcet's disease mouse model JOURNAL Clin Immunol 250, 109305 (2023) PUBMED 37003592 REMARK GeneRIF: Characterization of immune responses associated with ERAP-1 expression in HSV-induced Behcet's disease mouse model. REFERENCE 2 (residues 1 to 930) AUTHORS Geiger KM, Manoharan M, Coombs R, Arana K, Park CS, Lee AY, Shastri N, Robey EA and Coscoy L. TITLE Murine cytomegalovirus downregulates ERAAP and induces an unconventional T cell response to self JOURNAL Cell Rep 42 (4), 112317 (2023) PUBMED 36995940 REMARK GeneRIF: Murine cytomegalovirus downregulates ERAAP and induces an unconventional T cell response to self. REFERENCE 3 (residues 1 to 930) AUTHORS Niu Y, Jiang H, Yin H, Wang F, Hu R, Hu X, Peng B, Shu Y, Li Z, Chen S and Guo F. TITLE Hepatokine ERAP1 Disturbs Skeletal Muscle Insulin Sensitivity Via Inhibiting USP33-Mediated ADRB2 Deubiquitination JOURNAL Diabetes 71 (5), 921-933 (2022) PUBMED 35192681 REFERENCE 4 (residues 1 to 930) AUTHORS Blake MK, O'Connell P, Pepelyayeva Y, Godbehere S, Aldhamen YA and Amalfitano A. TITLE ERAP1 is a critical regulator of inflammasome-mediated proinflammatory and ER stress responses JOURNAL BMC Immunol 23 (1), 9 (2022) PUBMED 35246034 REMARK GeneRIF: ERAP1 is a critical regulator of inflammasome-mediated proinflammatory and ER stress responses. Publication Status: Online-Only REFERENCE 5 (residues 1 to 930) AUTHORS O'Connell P, Blake MK, Godbehere S, Aldhamen YA and Amalfitano A. TITLE Absence of ERAP1 in B Cells Increases Susceptibility to Central Nervous System Autoimmunity, Alters B Cell Biology, and Mechanistically Explains Genetic Associations between ERAP1 and Multiple Sclerosis JOURNAL J Immunol 207 (12), 2952-2965 (2021) PUBMED 34810226 REMARK GeneRIF: Absence of ERAP1 in B Cells Increases Susceptibility to Central Nervous System Autoimmunity, Alters B Cell Biology, and Mechanistically Explains Genetic Associations between ERAP1 and Multiple Sclerosis. REFERENCE 6 (residues 1 to 930) AUTHORS Yan J, Parekh VV, Mendez-Fernandez Y, Olivares-Villagomez D, Dragovic S, Hill T, Roopenian DC, Joyce S and Van Kaer L. TITLE In vivo role of ER-associated peptidase activity in tailoring peptides for presentation by MHC class Ia and class Ib molecules JOURNAL J Exp Med 203 (3), 647-659 (2006) PUBMED 16505142 REFERENCE 7 (residues 1 to 930) AUTHORS Hammer GE, Gonzalez F, Champsaur M, Cado D and Shastri N. TITLE The aminopeptidase ERAAP shapes the peptide repertoire displayed by major histocompatibility complex class I molecules JOURNAL Nat Immunol 7 (1), 103-112 (2006) PUBMED 16299505 REFERENCE 8 (residues 1 to 930) AUTHORS Yamazaki T, Akada T, Niizeki O, Suzuki T, Miyashita H and Sato Y. TITLE Puromycin-insensitive leucyl-specific aminopeptidase (PILSAP) binds and catalyzes PDK1, allowing VEGF-stimulated activation of S6K for endothelial cell proliferation and angiogenesis JOURNAL Blood 104 (8), 2345-2352 (2004) PUBMED 15187024 REFERENCE 9 (residues 1 to 930) AUTHORS Serwold T, Gonzalez F, Kim J, Jacob R and Shastri N. TITLE ERAAP customizes peptides for MHC class I molecules in the endoplasmic reticulum JOURNAL Nature 419 (6906), 480-483 (2002) PUBMED 12368856 REMARK GeneRIF: identification of ERAAP, the aminopeptidase associated with antigen processing in the endoplasmic reticulum (ERAAP) REFERENCE 10 (residues 1 to 930) AUTHORS Miyashita H, Yamazaki T, Akada T, Niizeki O, Ogawa M, Nishikawa S and Sato Y. TITLE A mouse orthologue of puromycin-insensitive leucyl-specific aminopeptidase is expressed in endothelial cells and plays an important role in angiogenesis JOURNAL Blood 99 (9), 3241-3249 (2002) PUBMED 11964289 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138120.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK036559.1, AK030329.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..930 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="13" /map="13 40.48 cM" Protein 1..930 /product="endoplasmic reticulum aminopeptidase 1 precursor" /note="type 1 tumor necrosis factor receptor shedding aminopeptidase regulator; adipocyte-derived leucine aminopeptidase; aminopeptidase PILS; VEGF-induced aminopeptidase; puromycin-insensitive leucyl-specific aminopeptidase" /calculated_mol_wt=104440 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2178 Site 3..23 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Region 50..515 /region_name="M1_APN-Q_like" /note="Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1); cd09601" /db_xref="CDD:341064" Site 59 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Site 143 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Site order(170,172,306..309,342..343,346,365,369,422,427) /site_type="active" /db_xref="CDD:341064" Site 403 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Site 427 /site_type="other" /note="Transition state stabilizer. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Region 586..905 /region_name="ERAP1_C" /note="ERAP1-like C-terminal domain; pfam11838" /db_xref="CDD:432117" Site 655 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Site 749 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" Site 890 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQH2.2)" CDS 1..930 /gene="Erap1" /gene_synonym="A-LAP; ARTS-1; Arts1; ERAAP; PILSA; PILSAP" /coded_by="NM_030711.5:95..2887" /db_xref="CCDS:CCDS26647.1" /db_xref="GeneID:80898" /db_xref="MGI:MGI:1933403" ORIGIN 1 mpsllplvlt flsvsspswc qnsdieslka sngdsfpwnn mrlpeymtpi hydlmihanl 61 stltfwgkte veiiasrpts tiimhshhlq iskatlrrga gemlseeplk vleypaheqv 121 allaaqplla gslytviidy aanlsesfhg fykstyrtqe gemrilaatq feptaarmaf 181 pcfdepalka sfsikikrdp rhlaisnmpl vksvnvaegl iedhfditvk mstylvafii 241 sdfksvskmt ksgvkvsvya vpdkinqady aldaavtlle fyedyfnipy plpkqdlaai 301 pdfqsgamen wglttyress llydkekssa ssklgitmiv shelahqwfg nlvtmewwnd 361 lwlnegfakf mefvsvtvth pelkvedyff gkcfnamevd alnsshpvst pvenpaqire 421 mfddvsyekg acilnmlrdy lsadtfkrgi vqylqkysyk ntknedlwns mmhicptdgt 481 qtmdgfcsrs qhssstshwr qevvdvktmm ntwtlqkgfp lititvsgrn vhmkqehymk 541 gserfpetgy lwhvpltfit sksdsvqrfl lktktdvlil peavqwikfn vgmngyyivh 601 yaddgwasls gllkeahtti ssndraslin nafqlvsiek lsiekaldlt lylkneteim 661 pifqalneli pmyklmekrd mievetqfkd fllkllkdli dkqtwtdegs vsermlrsql 721 lllacvrnyq pcvqraeryf rewkssngnm sipidvtlav favgaqnteg wdflyskyqs 781 slssteksqi efslctskdp eklqwlldqs fkgeiiktqe fphiltligr npvgyplawk 841 flrenwnklv qkfelgsssi ahmvmgttdq fstrarleev kgffsslken gsqlrcvqqt 901 ietieenirw mdknfdkirl wlqkekpell // LOCUS NP_001103777 624 aa linear ROD 09-OCT-2023 DEFINITION kelch-like ECH-associated protein 1 [Mus musculus]. ACCESSION NP_001103777 VERSION NP_001103777.1 DBSOURCE REFSEQ: accession NM_001110307.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 624) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 624) AUTHORS Baird L, Taguchi K, Zhang A, Takahashi Y, Suzuki T, Kensler TW and Yamamoto M. TITLE A NRF2-induced secretory phenotype activates immune surveillance to remove irreparably damaged cells JOURNAL Redox Biol 66, 102845 (2023) PUBMED 37597423 REFERENCE 3 (residues 1 to 624) AUTHORS Zhang A, Suzuki T, Adachi S, Yoshida E, Sakaguchi S and Yamamoto M. TITLE Nrf2 activation improves experimental rheumatoid arthritis JOURNAL Free Radic Biol Med 207, 279-295 (2023) PUBMED 37494986 REMARK GeneRIF: Nrf2 activation improves experimental rheumatoid arthritis. REFERENCE 4 (residues 1 to 624) AUTHORS Ushimoto C, Sugiki S, Kunii K, Inoue S, Kuroda E, Akai R, Iwawaki T and Miyazawa K. TITLE Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation JOURNAL Free Radic Biol Med 207, 120-132 (2023) PUBMED 37451369 REMARK GeneRIF: Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation. REFERENCE 5 (residues 1 to 624) AUTHORS Zhou M, Barkema HW, Gao J, Yang J, Wang Y, Kastelic JP, Khan S, Liu G and Han B. TITLE MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands JOURNAL Vet Res 54 (1), 78 (2023) PUBMED 37710276 REMARK GeneRIF: MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands. Publication Status: Online-Only REFERENCE 6 (residues 1 to 624) AUTHORS Zipper LM and Mulcahy RT. TITLE The Keap1 BTB/POZ dimerization function is required to sequester Nrf2 in cytoplasm JOURNAL J Biol Chem 277 (39), 36544-36552 (2002) PUBMED 12145307 REFERENCE 7 (residues 1 to 624) AUTHORS Dinkova-Kostova AT, Holtzclaw WD, Cole RN, Itoh K, Wakabayashi N, Katoh Y, Yamamoto M and Talalay P. TITLE Direct evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants JOURNAL Proc Natl Acad Sci U S A 99 (18), 11908-11913 (2002) PUBMED 12193649 REMARK GeneRIF: evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants REFERENCE 8 (residues 1 to 624) AUTHORS Kotilinek LA, Bacskai B, Westerman M, Kawarabayashi T, Younkin L, Hyman BT, Younkin S and Ashe KH. TITLE Reversible memory loss in a mouse transgenic model of Alzheimer's disease JOURNAL J Neurosci 22 (15), 6331-6335 (2002) PUBMED 12151510 REFERENCE 9 (residues 1 to 624) AUTHORS Itoh K, Wakabayashi N, Katoh Y, Ishii T, Igarashi K, Engel JD and Yamamoto M. TITLE Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain JOURNAL Genes Dev 13 (1), 76-86 (1999) PUBMED 9887101 REFERENCE 10 (residues 1 to 624) AUTHORS Chu CC and Paul WE. TITLE Expressed genes in interleukin-4 treated B cells identified by cDNA representational difference analysis JOURNAL Mol Immunol 35 (8), 487-502 (1998) PUBMED 9798653 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK004738.1 and BY586021.1. Transcript Variant: This variant (4) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 all encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK004738.1, AK150437.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..624 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 7.74 cM" Protein 1..624 /product="kelch-like ECH-associated protein 1" /note="NRF2 cytosolic inhibitor; cytosolic inhibitor of Nrf2; ring canal protein" /calculated_mol_wt=69422 Region 56..180 /region_name="BTB_POZ_KLHL19_KEAP1" /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1); cd18248" /db_xref="CDD:349557" Region 95..596 /region_name="PHA03098" /note="kelch-like protein; Provisional" /db_xref="CDD:222983" Site order(106,109..110,115..117,125..126,157,161..162) /site_type="other" /note="cullin binding site [polypeptide binding]" /db_xref="CDD:349557" Site order(129,131..132,147..148,150..151,154) /site_type="other" /note="modulator binding site [chemical binding]" /db_xref="CDD:349557" Site 151 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:18268004, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 257 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000250|UniProtKB:Q14145; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 273 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 288 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 327..372 /region_name="Kelch 1" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 362..409 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 373..423 /region_name="Kelch 2" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 413..456 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 424..470 /region_name="Kelch 3" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 434 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:20498371; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 460..503 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 471..517 /region_name="Kelch 4" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 507..551 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 519..564 /region_name="Kelch 5" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 554..597 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 565..611 /region_name="Kelch 6" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" CDS 1..624 /gene="Keap1" /gene_synonym="INRF2; mKIAA0132" /coded_by="NM_001110307.1:305..2179" /db_xref="CCDS:CCDS22897.1" /db_xref="GeneID:50868" /db_xref="MGI:MGI:1858732" ORIGIN 1 mqpepklsga prssqflplw skcpegagda vmyastecka evtpsqdgnr tfsytledht 61 kqafgvmnel rlsqqlcdvt lqvkyedipa aqfmahkvvl assspvfkam ftnglreqgm 121 evvsiegihp kvmerliefa ytasisvgek cvlhvmngav myqidsvvra csdflvqqld 181 psnaigianf aeqigctelh qrareyiymh fgevakqeef fnlshcqlat lisrddlnvr 241 cesevfhaci dwvkydcpqr rfyvqallra vrchaltprf lqtqlqkcei lqadarckdy 301 lvqifqeltl hkptqavpcr apkvgrliyt aggyfrqsls yleaynpsng swlrladlqv 361 prsglagcvv ggllyavggr nnspdgntds saldcynpmt nqwspcasms vprnrigvgv 421 idghiyavgg shgcihhssv eryeperdew hlvapmltrr igvgvavlnr llyavggfdg 481 tnrlnsaecy ypernewrmi tpmntirsga gvcvlhnciy aaggydgqdq lnsverydve 541 tetwtfvapm rhhrsalgit vhqgkiyvlg gydghtflds vecydpdsdt wsevtrmtsg 601 rsgvgvavtm epcrkqidqq nctc // LOCUS NP_033852 998 aa linear ROD 09-OCT-2023 DEFINITION sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a [Mus musculus]. ACCESSION NP_033852 VERSION NP_033852.1 DBSOURCE REFSEQ: accession NM_009722.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 998) AUTHORS Iida H, Kono T, Lee CC, Krishnan P, Arvin MC, Weaver SA, Jarvela TS, Branco RCS, McLaughlin MR, Bone RN, Tong X, Arvan P, Lindberg I and Evans-Molina C. TITLE SERCA2 regulates proinsulin processing and processing enzyme maturation in pancreatic beta cells JOURNAL Diabetologia 66 (11), 2042-2061 (2023) PUBMED 37537395 REMARK GeneRIF: SERCA2 regulates proinsulin processing and processing enzyme maturation in pancreatic beta cells. REFERENCE 2 (residues 1 to 998) AUTHORS Karatsai O, Lehka L, Wojton D, Grabowska AI, Duda MK, Lenartowski R and Redowicz MJ. TITLE Unconventional myosin VI in the heart: Involvement in cardiac dysfunction progressing with age JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (6), 166748 (2023) PUBMED 37169038 REFERENCE 3 (residues 1 to 998) AUTHORS Chen HX, Wang XC, Hou HT, Wang J, Yang Q, Chen YL, Chen HZ and He GW. TITLE Lysine crotonylation of SERCA2a correlates to cardiac dysfunction and arrhythmia in Sirt1 cardiac-specific knockout mice JOURNAL Int J Biol Macromol 242 (Pt 4), 125151 (2023) PUBMED 37270127 REMARK GeneRIF: Lysine crotonylation of SERCA2a correlates to cardiac dysfunction and arrhythmia in Sirt1 cardiac-specific knockout mice. REFERENCE 4 (residues 1 to 998) AUTHORS Skogestad J, Albert I, Hougen K, Lothe GB, Lunde M, Eken OS, Veras I, Huynh NTT, Borstad M, Marshall S, Shen X, Louch WE, Robinson EL, Cleveland JC Jr, Ambardekar AV, Schwisow JA, Jonas E, Calejo AI, Morth JP, Tasken K, Melleby AO, Lunde PK, Sjaastad I, Carlson CR and Aronsen JM. TITLE Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure JOURNAL Circulation 147 (16), 1221-1236 (2023) PUBMED 36876489 REMARK GeneRIF: Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure. REFERENCE 5 (residues 1 to 998) AUTHORS Ye B, Zhou H, Chen Y, Luo W, Lin W, Zhao Y, Han J, Han X, Huang W, Wu G, Wang X and Liang G. TITLE USP25 Ameliorates Pathological Cardiac Hypertrophy by Stabilizing SERCA2a in Cardiomyocytes JOURNAL Circ Res 132 (4), 465-480 (2023) PUBMED 36722348 REMARK GeneRIF: USP25 Ameliorates Pathological Cardiac Hypertrophy by Stabilizing SERCA2a in Cardiomyocytes. REFERENCE 6 (residues 1 to 998) AUTHORS Ko MS, Threat TA, Wang X, Horton JH, Cui Y, Wang X, Pryor E, Paris J, Wells-Smith J, Kitchen JR, Rowe LB, Eppig J, Satoh T, Brant L, Fujiwara H, Yotsumoto S and Nakashima H. TITLE Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome JOURNAL Hum Mol Genet 7 (12), 1967-1978 (1998) PUBMED 9811942 REFERENCE 7 (residues 1 to 998) AUTHORS Ya J, Erdtsieck-Ernste EB, de Boer PA, van Kempen MJ, Jongsma H, Gros D, Moorman AF and Lamers WH. TITLE Heart defects in connexin43-deficient mice JOURNAL Circ Res 82 (3), 360-366 (1998) PUBMED 9486664 REMARK Review article REFERENCE 8 (residues 1 to 998) AUTHORS Harrer JM, Haghighi K, Kim HW, Ferguson DG and Kranias EG. TITLE Coordinate regulation of SR Ca(2+)-ATPase and phospholamban expression in developing murine heart JOURNAL Am J Physiol 272 (1 Pt 2), H57-H66 (1997) PUBMED 9038922 REFERENCE 9 (residues 1 to 998) AUTHORS Hawkins C, Xu A and Narayanan N. TITLE Sarcoplasmic reticulum calcium pump in cardiac and slow twitch skeletal muscle but not fast twitch skeletal muscle undergoes phosphorylation by endogenous and exogenous Ca2+/calmodulin-dependent protein kinase. Characterization of optimal conditions for calcium pump phosphorylation JOURNAL J Biol Chem 269 (49), 31198-31206 (1994) PUBMED 7983062 REFERENCE 10 (residues 1 to 998) AUTHORS Hsu DK, Donohue PJ, Alberts GF and Winkles JA. TITLE Fibroblast growth factor-1 induces phosphofructokinase, fatty acid synthase and Ca(2+)-ATPase mRNA expression in NIH 3T3 cells JOURNAL Biochem Biophys Res Commun 197 (3), 1483-1491 (1993) PUBMED 7506544 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ162528.1, AK220538.1 and BC054748.1. Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (a), also known as SERCA2A, has a shorter and distinct C-terminus compared to isoform b. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ223584.1, SRR10223969.6018.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..998 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 62.38 cM" Protein 1..998 /product="sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform a" /EC_number="7.2.2.10" /note="sarcoplasmic/endoplasmic reticulum calcium ATPase 2; calcium pump 2; SR Ca(2+)-ATPase 2; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarco/endoplasmic reticulum Ca2+-ATPase 2" /calculated_mol_wt=109623 Region 5..988 /region_name="P-type_ATPase_SERCA" /note="sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3; cd02083" /db_xref="CDD:319778" Site 38 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 49..69 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 90..110 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 254..273 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 296..313 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site order(309,795,799) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:319778" Site order(351..353,442,487,489,492,494,514..516,559,561, 624..626,677,683,702,705) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:319778" Site 441 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q64578; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 531 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Region 575..594 /region_name="Interaction with HAX1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 580 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P16615; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 661 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P11507; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 663 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 757..776 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site order(767,770,798..799,907) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:319778" Region 787..807 /region_name="Interaction with PLN. /evidence=ECO:0000250|UniProtKB:P04191" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 787..807 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 828..850 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 897..916 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 930..948 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Region 931..942 /region_name="Interaction with PLN. /evidence=ECO:0000250|UniProtKB:P04191" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 964..984 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" CDS 1..998 /gene="Atp2a2" /gene_synonym="9530097L16Rik; D5Wsu150e; mKIAA4195; SERCA2; Serca2a; SERCA2B" /coded_by="NM_009722.3:541..3537" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS57379.1" /db_xref="GeneID:11938" /db_xref="MGI:MGI:88110" ORIGIN 1 menahtktve evlghfgvne stglsleqvk klkerwgsne lpaeegktll elvieqfedl 61 lvrilllaac isfvlawfee geetitafve pfvillilva naivgvwqer naenaiealk 121 eyepemgkvy rqdrksvqri kakdivpgdi veiavgdkvp adirltsiks ttlrvdqsil 181 tgesvsvikh tdpvpdprav nqdkknmlfs gtniaagkam gvvvatgvnt eigkirdemv 241 ateqertplq qkldefgeql skvislicia vwiinighfn dpvhggswir gaiyyfkiav 301 alavaaipeg lpavittcla lgtrrmakkn aivrslpsve tlgctsvics dktgtlttnq 361 msvcrmfild kvegdtcsln efsitgstya pigevqkddk pvkchqydgl velaticalc 421 ndsaldynea kgvyekvgea tetaltclve kmnvfdtelk glskierana cnsvikqlmk 481 keftlefsrd rksmsvyctp nkpsrtsmsk mfvkgapegv idrcthirvg stkvpmtpgv 541 kqkimsvire wgsgsdtlrc lalathdnpl kreemhleds anfikyetnl tfvgcvgmld 601 pprievassv klcrqagirv imitgdnkgt avaicrrigi fgqdedvtsk aftgrefdel 661 spsaqrdacl narcfarvep shkskivefl qsfdeitamt gdgvndapal kkseigiamg 721 sgtavaktas emvladdnfs tivaaveegr aiynnmkqfi rylissnvge vvcifltaal 781 gfpealipvq llwvnlvtdg lpatalgfnp pdldimnkpp rnpkeplisg wlffrylaig 841 cyvgaatvga aawwfiaadg gprvsfyqls hflqckednp dfdgvdcaif espypmtmal 901 svlvtiemcn alnslsenqs llrmppweni wlvgsiclsm slhflilyve plplifqitp 961 lnltqwlmvl kislpvilmd etlkfvarny leqpaile // LOCUS NP_001404201 247 aa linear ROD 09-OCT-2023 DEFINITION syntaxin-4 isoform 2 [Mus musculus]. ACCESSION NP_001404201 XP_030098171 VERSION NP_001404201.1 DBSOURCE REFSEQ: accession NM_001417272.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 247) AUTHORS Tondeur EGM, Voerman JSA, Geleijnse MAA, van Hofwegen LS, van Krimpen A, Koerner J, Mishra G, Song Z and Schliehe C. TITLE Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro JOURNAL J Immunol 211 (8), 1203-1215 (2023) PUBMED 37638825 REMARK GeneRIF: Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro. REFERENCE 2 (residues 1 to 247) AUTHORS Black HL, Livingstone R, Mastick CC, Al Tobi M, Taylor H, Geiser A, Stirrat L, Kioumourtzoglou D, Petrie JR, Boyle JG, Bryant NJ and Gould GW. TITLE Knockout of syntaxin-4 in 3T3-L1 adipocytes reveals new insight into GLUT4 trafficking and adiponectin secretion JOURNAL J Cell Sci 135 (1) (2022) PUBMED 34859814 REMARK GeneRIF: Knockout of syntaxin-4 in 3T3-L1 adipocytes reveals new insight into GLUT4 trafficking and adiponectin secretion. REFERENCE 3 (residues 1 to 247) AUTHORS Merz KE, Hwang J, Zhou C, Veluthakal R, McCown EM, Hamilton A, Oh E, Dai W, Fueger PT, Jiang L, Huss JM and Thurmond DC. TITLE Enrichment of the exocytosis protein STX4 in skeletal muscle remediates peripheral insulin resistance and alters mitochondrial dynamics via Drp1 JOURNAL Nat Commun 13 (1), 424 (2022) PUBMED 35058456 REMARK GeneRIF: Enrichment of the exocytosis protein STX4 in skeletal muscle remediates peripheral insulin resistance and alters mitochondrial dynamics via Drp1. Publication Status: Online-Only REFERENCE 4 (residues 1 to 247) AUTHORS Oh E, McCown EM, Ahn M, Garcia PA, Branciamore S, Tang S, Zeng DF, Roep BO and Thurmond DC. TITLE Syntaxin 4 Enrichment in beta-Cells Prevents Conversion to Autoimmune Diabetes in Non-Obese Diabetic (NOD) Mice JOURNAL Diabetes 70 (12), 2837-2849 (2021) PUBMED 34556496 REMARK GeneRIF: Syntaxin 4 Enrichment in beta-Cells Prevents Conversion to Autoimmune Diabetes in Non-Obese Diabetic (NOD) Mice. REFERENCE 5 (residues 1 to 247) AUTHORS Sanchez E, Gonzalez EA, Moreno DS, Cardenas RA, Ramos MA, Davalos AJ, Manllo J, Rodarte AI, Petrova Y, Moreira DC, Chavez MA, Tortoriello A, Lara A, Gutierrez BA, Burns AR, Heidelberger R and Adachi R. TITLE Syntaxin 3, but not syntaxin 4, is required for mast cell-regulated exocytosis, where it plays a primary role mediating compound exocytosis JOURNAL J Biol Chem 294 (9), 3012-3023 (2019) PUBMED 30563839 REMARK GeneRIF: the residual exocytic function of Stx3-deficient MCs was sufficient to drive a full anaphylactic response in mice REFERENCE 6 (residues 1 to 247) AUTHORS Lehtonen S, Riento K, Olkkonen VM and Lehtonen E. TITLE Syntaxin 3 and Munc-18-2 in epithelial cells during kidney development JOURNAL Kidney Int 56 (3), 815-826 (1999) PUBMED 10469351 REFERENCE 7 (residues 1 to 247) AUTHORS Min J, Okada S, Kanzaki M, Elmendorf JS, Coker KJ, Ceresa BP, Syu LJ, Noda Y, Saltiel AR and Pessin JE. TITLE Synip: a novel insulin-regulated syntaxin 4-binding protein mediating GLUT4 translocation in adipocytes JOURNAL Mol Cell 3 (6), 751-760 (1999) PUBMED 10394363 REMARK Erratum:[Mol Cell 1999 Jul;4(1):following 142] REFERENCE 8 (residues 1 to 247) AUTHORS Gerst JE. TITLE SNAREs and SNARE regulators in membrane fusion and exocytosis JOURNAL Cell Mol Life Sci 55 (5), 707-734 (1999) PUBMED 10379359 REMARK Review article REFERENCE 9 (residues 1 to 247) AUTHORS Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW and James DE. TITLE Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4 JOURNAL J Biol Chem 272 (10), 6179-6186 (1997) PUBMED 9045631 REFERENCE 10 (residues 1 to 247) AUTHORS Katagiri H, Terasaki J, Murata T, Ishihara H, Ogihara T, Inukai K, Fukushima Y, Anai M, Kikuchi M, Miyazaki J et al. TITLE A novel isoform of syntaxin-binding protein homologous to yeast Sec1 expressed ubiquitously in mammalian cells JOURNAL J Biol Chem 270 (10), 4963-4966 (1995) PUBMED 7890599 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC149222.4. On Mar 2, 2023 this sequence version replaced XP_030098171.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.66540.1, SRR13422590.44128.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..247 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 69.77 cM" Protein 1..247 /product="syntaxin-4 isoform 2" /note="syntaxin-4" /calculated_mol_wt=28213 Region 1..138 /region_name="SynN" /note="Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may...; cd00179" /db_xref="CDD:238105" Site order(18,29,32..33,40,44,47,54,76,81,84,90,97..98, 101..102,104..105,108,135) /site_type="active" /note="interdomain interaction site [active]" /db_xref="CDD:238105" Site order(115..125,134..138) /site_type="active" /note="linker region [active]" /db_xref="CDD:238105" Region 148..209 /region_name="SNARE" /note="SNARE motif; cl22856" /db_xref="CDD:451431" Site order(180,187,190) /site_type="other" /note="flanking leucine-zipper layers" /db_xref="CDD:277192" Site 183 /site_type="active" /note="zero layer [active]" /db_xref="CDD:277192" Region 185..236 /region_name="SNARE" /note="SNARE domain; pfam05739" /db_xref="CDD:428611" CDS 1..247 /gene="Stx4a" /gene_synonym="Stx4; Syn-4; Syn4" /coded_by="NM_001417272.1:451..1194" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:20909" /db_xref="MGI:MGI:893577" ORIGIN 1 makleskvre lekqqvtila tplpeesmkq glqnlreeik qlgrevraql kaiepqkeea 61 denynsvntr mkktqhgvls qqfvelinkc nsmqseyrek nverirrqlk itnagmvsde 121 eleqmldsgq sevfvsnilk dtqvtrqaln eisarhseiq qlersirelh eiftflatev 181 emqgeminri eknilssady vergqehvki alenqkkark kkvmiaicvs vtvlilavii 241 gititvg // LOCUS NP_001032255 452 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform c [Mus musculus]. ACCESSION NP_001032255 VERSION NP_001032255.1 DBSOURCE REFSEQ: accession NM_001037178.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 452) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 452) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 452) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 452) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 452) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 452) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 452) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 452) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 452) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 452) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887601.1 and AW049827.1. Transcript Variant: This variant (3, also known as IA-IIS-VIIa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 3 and 16 encode isoform c. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887601.1, AK083119.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..452 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..452 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform c" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=48777 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..>397 /region_name="IPT" /note="Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor...; cl15674" /db_xref="CDD:449574" CDS 1..452 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001037178.2:203..1561" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS17114.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttgpa gtcetrplpi slisadrlsp 421 wlsrlqrnpp gsvfrcsvll papgsslvll al // LOCUS NP_001271274 1164 aa linear ROD 09-OCT-2023 DEFINITION phospholipid-transporting ATPase IA isoform c [Mus musculus]. ACCESSION NP_001271274 VERSION NP_001271274.1 DBSOURCE REFSEQ: accession NM_001284345.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1164) AUTHORS Xu H, Oses-Prieto JA, Khvotchev M, Jain S, Liang J, Burlingame A and Edwards RH. TITLE Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1 JOURNAL Nat Neurosci 26 (10), 1685-1700 (2023) PUBMED 37723322 REMARK GeneRIF: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1. REFERENCE 2 (residues 1 to 1164) AUTHORS Zheng L, Pan C, Tian W, Liang C, Feng Y, He W, Yang Z, Wang B, Qiu Q, Li N, Sun Y, Qiu H, Sample KM, Zhou L, Zhu X and Hu Y. TITLE Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function JOURNAL Cell Oncol (Dordr) 46 (4), 1069-1083 (2023) PUBMED 36930333 REMARK GeneRIF: Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function. REFERENCE 3 (residues 1 to 1164) AUTHORS Kook S, Wang P, Meng S, Jetter CS, Sucre JMS, Benjamin JT, Gokey JJ, Hanby HA, Jaume A, Goetzl L, Marks MS and Guttentag SH. TITLE AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells JOURNAL Proc Natl Acad Sci U S A 118 (20) (2021) PUBMED 33990468 REFERENCE 4 (residues 1 to 1164) AUTHORS Yap YT, Li YH, Li W, Banerjee P and Zhang Z. TITLE ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility JOURNAL Mol Reprod Dev 88 (5), 371-375 (2021) PUBMED 33821543 REMARK GeneRIF: ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility. REFERENCE 5 (residues 1 to 1164) AUTHORS Jing W, Yabas M, Broer A, Coupland L, Gardiner EE, Enders A and Broer S. TITLE Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets JOURNAL Blood Adv 3 (3), 219-229 (2019) PUBMED 30674456 REMARK GeneRIF: ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation. REFERENCE 6 (residues 1 to 1164) AUTHORS Wang L, Beserra C and Garbers DL. TITLE A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization JOURNAL Dev Biol 267 (1), 203-215 (2004) PUBMED 14975727 REMARK GeneRIF: role in normal phospholipid distribution in the bilayer, and for normal binding, penetration, and signaling by the zona pellucida REFERENCE 7 (residues 1 to 1164) AUTHORS Ding J, Wu Z, Crider BP, Ma Y, Li X, Slaughter C, Gong L and Xie XS. TITLE Identification and functional expression of four isoforms of ATPase II, the putative aminophospholipid translocase. Effect of isoform variation on the ATPase activity and phospholipid specificity JOURNAL J Biol Chem 275 (30), 23378-23386 (2000) PUBMED 10801890 REFERENCE 8 (residues 1 to 1164) AUTHORS Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S and Wada K. TITLE YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes JOURNAL Genomics 66 (3), 333-336 (2000) PUBMED 10873389 REFERENCE 9 (residues 1 to 1164) AUTHORS Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P and Schlegel RA. TITLE Differential expression of putative transbilayer amphipath transporters JOURNAL Physiol Genomics 1 (3), 139-150 (1999) PUBMED 11015572 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 1164) AUTHORS Halleck MS, Pradhan D, Blackman C, Berkes C, Williamson P and Schlegel RA. TITLE Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs JOURNAL Genome Res 8 (4), 354-361 (1998) PUBMED 9548971 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK151709.1, AK045367.1, AK141559.1, BC094235.1 and AC123662.13. Transcript Variant: This variant (3) lacks an alternate exon and contains a different alternate exon in the 5' coding region, compared to variant 1. It encodes isoform c, which is of the same size but lacks an internal segment, compared to isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC129872.1, SRR10662773.365692.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1164 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 36.15 cM" Protein 1..1164 /product="phospholipid-transporting ATPase IA isoform c" /EC_number="7.6.2.1" /note="probable phospholipid-transporting ATPase IA; chromaffin granule ATPase II; ATPase class I type 8A member 1; ATPase 8A1, p type; ATPase 8A1, aminophospholipid transporter (APLT), class I; P4-ATPase flippase complex alpha subunit ATP8A1; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" /calculated_mol_wt=131378 Site 25 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 28 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 29 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Region 49..1086 /region_name="ATPase-Plipid" /note="phospholipid-translocating P-type ATPase, flippase; TIGR01652" /db_xref="CDD:273734" Site 76..96 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 139 /site_type="cleavage" /note="Cleavage, by calpain. /evidence=ECO:0000305|PubMed:30674456; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 298..318 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 340..360 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 352 /site_type="other" /note="Involved in the recognition of the lipid substrate on the exoplasmic side. /evidence=ECO:0000250|UniProtKB:C7EXK4; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 357 /site_type="other" /note="Involved in the release of the transported lipid into the cytosolic leaflet. /evidence=ECO:0000250|UniProtKB:C7EXK4; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 443 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 867..887 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 891..911 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 940..960 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 978..998 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1009..1029 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1045..1065 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1126 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" CDS 1..1164 /gene="Atp8a1" /gene_synonym="APLT; Atp3a2; B230107D19Rik; ClassI" /coded_by="NM_001284345.1:222..3716" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS80295.1" /db_xref="GeneID:11980" /db_xref="MGI:MGI:1330848" ORIGIN 1 mptmrrtvse irsraegyek tddvsektsl adqeevrtif inqpqltkfc nnhvstakyn 61 vitflprfly sqfrraansf flfiallqqi pdvsptgryt tlvpllfila vaaikeiied 121 ikrhkadnav nkkqtqvlrn gaweivhwek vnvgdiviik gkeyipadtv llsssepqam 181 cyietsnldg etnlkirqgl patsdikdid slmrisgrie cespnrhlyd fvgnirldgh 241 gtvplgadqi llrgaqlrnt qwvhgivvyt ghdtklmqns tspplklsnv eritnvqili 301 lfciliamsl vcsvgsaiwn rrhsgkdwyl hlhyggasnf glnfltfiil fnnlipisll 361 vtlevvkftq ayfinwdldm hyeptdtaam artsnlneel gqvkyifsdk tgtltcnvmq 421 fkkctiagva yghvpepedy gcspdewqss qfgdektfnd pslldnlqnn hptapiicef 481 ltmmavchta vperegdkii yqaaspdega lvraakqlnf vftgrtpdsv iidslgqeer 541 yellnvleft sarkrmsvvv rtpsgklrly ckgadtviye rlaetskyke itlkhleqfa 601 teglrtlcfa vaeisesdfe ewravyhras tsvqnrllkl eesyeliekn lqllgataie 661 dklqdqvpet ietlmkadik iwiltgdkqe tainighscr llkrnmgmiv inegsldgtr 721 etlsrhcttl gdalrkendf aliidgktlk yaltfgvrqy fldlalscka viccrvsplq 781 ksevvemvkk qvkvitlaig dgandvsmiq tahvgvgisg neglqaanss dysiaqfkyl 841 knllmvhgaw nynrvskcil ycfyknivly iieiwfafvn gfsgqilfer wciglynvmf 901 tamppltlgi ferscrkenm lkypelykts qnaldfntkv fwvhclnglf hsvilfwfpl 961 kalqygtvfg ngktsdylll gnfvytfvvi tvclkaglet sywtwfshia iwgsialwvv 1021 ffgiysslwp avpmapdmsg eaamlfssgv fwvgllsipv asllldvlyk vikrtafktl 1081 vdevqeleak sqdpgavvlg kslteraqll knvfkknhvn lyrseslqqn llhgyafsqd 1141 engivsqsev iraydttkqr pdew // LOCUS NP_001349244 485 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 35 [Mus musculus]. ACCESSION NP_001349244 VERSION NP_001349244.1 DBSOURCE REFSEQ: accession NM_001362315.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 485) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 485) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 485) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 485) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 485) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 485) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 485) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 485) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 485) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 485) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.93113.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..485 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..485 /product="CUGBP Elav-like family member 4 isoform 35" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51730 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..474 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..485 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362315.1:531..1988" /note="isoform 35 is encoded by transcript variant 39" /db_xref="CCDS:CCDS89205.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd 481 anrpy // LOCUS NP_001392990 141 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 7 [Mus musculus]. ACCESSION NP_001392990 VERSION NP_001392990.1 DBSOURCE REFSEQ: accession NM_001406061.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 141) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 141) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 141) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 141) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 141) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 141) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 141) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 141) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 141) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 141) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR12282455.9073958.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..141 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..141 /product="bcl-2-like protein 11 isoform 7" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=16145 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 74..109 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..141 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001406061.1:229..654" /note="isoform 7 is encoded by transcript variant 10" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa maasirqsqe epedlrpeir iaqelrrigd efnetytrrv fandyreaed 121 hpqmvilqll rfifrlvwrr h // LOCUS NP_038695 553 aa linear ROD 09-OCT-2023 DEFINITION solute carrier family 22 member 2 isoform 1 [Mus musculus]. ACCESSION NP_038695 VERSION NP_038695.1 DBSOURCE REFSEQ: accession NM_013667.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 553) AUTHORS Orrico-Sanchez A, Guiard BP, Manta S, Callebert J, Launay JM, Louis F, Paccard A, Gruszczynski C, Betancur C, Vialou V and Gautron S. TITLE Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain JOURNAL Transl Psychiatry 13 (1), 302 (2023) PUBMED 37775532 REMARK GeneRIF: Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain. Publication Status: Online-Only REFERENCE 2 (residues 1 to 553) AUTHORS Hucke A, Schroter R, Ceresa C, Chiorazzi A, Canta A, Semperboni S, Marmiroli P, Cavaletti G, Gess B and Ciarimboli G. TITLE Role of Mouse Organic Cation Transporter 2 for Nephro- and Peripheral Neurotoxicity Induced by Chemotherapeutic Treatment with Cisplatin JOURNAL Int J Mol Sci 24 (14), 11486 (2023) PUBMED 37511245 REMARK GeneRIF: Role of Mouse Organic Cation Transporter 2 for Nephro- and Peripheral Neurotoxicity Induced by Chemotherapeutic Treatment with Cisplatin. Publication Status: Online-Only REFERENCE 3 (residues 1 to 553) AUTHORS La Manno G, Siletti K, Furlan A, Gyllborg D, Vinsland E, Mossi Albiach A, Mattsson Langseth C, Khven I, Lederer AR, Dratva LM, Johnsson A, Nilsson M, Lonnerberg P and Linnarsson S. TITLE Molecular architecture of the developing mouse brain JOURNAL Nature 596 (7870), 92-96 (2021) PUBMED 34321664 REFERENCE 4 (residues 1 to 553) AUTHORS Martinez ME and Hernandez A. TITLE The Type 3 Deiodinase Is a Critical Modulator of Thyroid Hormone Sensitivity in the Fetal Brain JOURNAL Front Neurosci 15, 703730 (2021) PUBMED 34248495 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 553) AUTHORS Morse BL, Chen LH, Catlow JT, Fallon JK, Smith PC and Hillgren KM. TITLE Expansion of Knowledge on OCT1 Variant Activity In Vitro and In Vivo Using Oct1/2-/- Mice JOURNAL Front Pharmacol 12, 631793 (2021) PUBMED 33658943 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 553) AUTHORS Sleutels F, Zwart R and Barlow DP. TITLE The non-coding Air RNA is required for silencing autosomal imprinted genes JOURNAL Nature 415 (6873), 810-813 (2002) PUBMED 11845212 REMARK GeneRIF: Slc22a2 is one of three imprinted genes on chromosome 17 that is expressed from the maternal allele. A non-coding Air RNA is required for repression of all three genes on the paternal allele. REFERENCE 7 (residues 1 to 553) AUTHORS Vallette-Kasic S, Pellegrini-Bouiller I, Sampieri F, Gunz G, Diaz A, Radovick S, Enjalbert A and Brue T. TITLE Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates JOURNAL Mol Endocrinol 15 (3), 411-420 (2001) PUBMED 11222742 REFERENCE 8 (residues 1 to 553) AUTHORS Mooslehner KA and Allen ND. TITLE Cloning of the mouse organic cation transporter 2 gene, Slc22a2, from an enhancer-trap transgene integration locus JOURNAL Mamm Genome 10 (3), 218-224 (1999) PUBMED 10051314 REFERENCE 9 (residues 1 to 553) AUTHORS Verhaagh S, Schweifer N, Barlow DP and Zwart R. TITLE Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27 JOURNAL Genomics 55 (2), 209-218 (1999) PUBMED 9933568 REFERENCE 10 (residues 1 to 553) AUTHORS Koehler MR, Wissinger B, Gorboulev V, Koepsell H and Schmid M. TITLE The two human organic cation transporter genes SLC22A1 and SLC22A2 are located on chromosome 6q26 JOURNAL Cytogenet Cell Genet 79 (3-4), 198-200 (1997) PUBMED 9605850 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC167817.4, AK143892.1, AK052658.1 and BB739804.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069911.1, AK143892.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## imprinted gene :: PMID: 11845212 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..553 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 8.61 cM" Protein 1..553 /product="solute carrier family 22 member 2 isoform 1" /note="organic cation transporter 2; solute carrier family 22 member 2" /calculated_mol_wt=61700 Region 12..525 /region_name="2A0119" /note="cation transport protein; TIGR00898" /db_xref="CDD:273328" Site 22..42 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 71 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 151..171 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 178..198 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 211..231 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 264..284 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Region 284..288 /region_name="Proline-rich sequence. /evidence=ECO:0000250|UniProtKB:O15244" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 349..369 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 376..396 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 405..425 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 433..453 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 451 /site_type="other" /note="Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations. /evidence=ECO:0000250|UniProtKB:Q9R0W2; propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 465..485 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 495..515 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" CDS 1..553 /gene="Slc22a2" /gene_synonym="mOCT2; Oct2; Orct2" /coded_by="NM_013667.3:93..1754" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS28392.1" /db_xref="GeneID:20518" /db_xref="MGI:MGI:1335072" ORIGIN 1 mptvddileh igefhlfqkq tffllallsg aftpiyvgiv flgftpnhhc rspgvaelsq 61 rcgwspaeel nytvpglgsa gevsflsqcm ryevdwnqst ldcvdplssl aanrshlpls 121 pcehgwvydt pgssivtefn lvcahswmld lfqslvnvgf figavgigyl adrfgrkfcl 181 lvtilinais gvlmaispny awmlvfrflq glvskagwli gyilitefvg lgyrrtvgic 241 yqiaftvgll ilagvayalp nwrwlqfavt lpnfcfllyf wcipesprwl isqnknakam 301 kiikhiakkn gksvpvslqs ltadedtgmk lnpsfldlvr tpqirkhtli lmynwftssv 361 lyqglimhmg lagdniyldf fysalvefpa afiiiltidr igrrypwavs nmvagaacla 421 svfipddlqw lkitvaclgr mgitiayemv clvnaelypt yirnlavlvc ssmcdiggiv 481 tpflvyrltd iwlefplvvf avvglvaggl vlllpetkgk alpetiedae kmqrprkkke 541 kriylqvkka els // LOCUS NP_001157174 280 aa linear ROD 09-OCT-2023 DEFINITION F-box only protein 27 isoform 1 [Mus musculus]. ACCESSION NP_001157174 VERSION NP_001157174.1 DBSOURCE REFSEQ: accession NM_001163702.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 280) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 280) AUTHORS Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and Harper,J.W. TITLE Systematic analysis and nomenclature of mammalian F-box proteins JOURNAL Genes Dev 18 (21), 2573-2580 (2004) PUBMED 15520277 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK158463.1 and BQ033399.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: BC075656.1, AK158463.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..280 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 16.89 cM" Protein 1..280 /product="F-box only protein 27 isoform 1" /note="F-box only protein 27" /calculated_mol_wt=31502 Region <37..70 /region_name="F-box_SF" /note="F-box domain superfamily; cl45894" /db_xref="CDD:459239" Region 102..275 /region_name="FBA" /note="F-box associated region; pfam04300" /db_xref="CDD:427850" CDS 1..280 /gene="Fbxo27" /gene_synonym="E130008B10Rik; FBG5; Gm161" /coded_by="NM_001163702.1:153..995" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS52164.1" /db_xref="GeneID:233040" /db_xref="MGI:MGI:2685007" ORIGIN 1 mgawisrtrv ptpepdpqev ldlsrlppel lllvlshvpp rtllmhcrrv crawralvdg 61 qalwllllar dhsaagrall tlarrclppa hedtpcplgq fcalrplgrn lisnpcgqeg 121 lrkwmvrhgg dgwvveknrk pvpgapsqtc fvtsfswcrk kqvvdlvekg lwpelldsgg 181 veiavsdwwg arhdsgckyr lfvtlldahq nvidkfsavp dpieqwnndi ylqvthvfsg 241 irrgirfvsf ehwgqdtqfw aghygarvtn ssviirvcqs // LOCUS NP_659137 503 aa linear ROD 09-OCT-2023 DEFINITION mitochondrial antiviral-signaling protein isoform 1 [Mus musculus]. ACCESSION NP_659137 VERSION NP_659137.1 DBSOURCE REFSEQ: accession NM_144888.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Liu F, Zhuang W, Song B, Yang Y, Liu J, Zheng Y, Liu B, Zheng J, Zhao W and Gao C. TITLE MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade JOURNAL Cell Mol Immunol 20 (10), 1186-1202 (2023) PUBMED 37582970 REMARK GeneRIF: MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade. REFERENCE 2 (residues 1 to 503) AUTHORS Ingle H, Makimaa H, Aggarwal S, Deng H, Foster L, Li Y, Kennedy EA, Peterson ST, Wilen CB, Lee S, Suthar MS and Baldridge MT. TITLE IFN-lambda derived from nonsusceptible enterocytes acts on tuft cells to limit persistent norovirus JOURNAL Sci Adv 9 (37), eadi2562 (2023) PUBMED 37703370 REFERENCE 3 (residues 1 to 503) AUTHORS He QQ, Huang Y, Nie L, Ren S, Xu G, Deng F, Cheng Z, Zuo Q, Zhang L, Cai H, Wang Q, Wang F, Ren H, Yan H, Xu K, Zhou L, Lu M, Lu Z, Zhu Y and Liu S. TITLE MAVS integrates glucose metabolism and RIG-I-like receptor signaling JOURNAL Nat Commun 14 (1), 5343 (2023) PUBMED 37660168 REMARK GeneRIF: MAVS integrates glucose metabolism and RIG-I-like receptor signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 503) AUTHORS Li J, Zhang R, Wang C, Zhu J, Ren M, Jiang Y, Hou X, Du Y, Wu Q, Qi S, Li L, Chen S, Yang H and Hou F. TITLE WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response JOURNAL Nat Commun 14 (1), 4824 (2023) PUBMED 37563140 REMARK GeneRIF: WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response. Erratum:[Nat Commun. 2023 Sep 25;14(1):5960. PMID: 37749076] Publication Status: Online-Only REFERENCE 5 (residues 1 to 503) AUTHORS Wang H, Sun W, Traba J, Wu J, Qi CF, Amo L, Kole HK, Scott B, Singh K, Sack MN and Bolland S. TITLE MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells JOURNAL Immunohorizons 7 (8), 587-599 (2023) PUBMED 37610299 REMARK GeneRIF: MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells. REFERENCE 6 (residues 1 to 503) AUTHORS Kumar H, Kawai T, Kato H, Sato S, Takahashi K, Coban C, Yamamoto M, Uematsu S, Ishii KJ, Takeuchi O and Akira S. TITLE Essential role of IPS-1 in innate immune responses against RNA viruses JOURNAL J Exp Med 203 (7), 1795-1803 (2006) PUBMED 16785313 REMARK GeneRIF: IPS-1 is the sole adapter in both retinoic acid-inducible gene (RIG-I) and melanoma differentiation-associated gene 5 (Mda5) signaling that mediates effective responses against a variety of RNA viruses. REFERENCE 7 (residues 1 to 503) AUTHORS Sun Q, Sun L, Liu HH, Chen X, Seth RB, Forman J and Chen ZJ. TITLE The specific and essential role of MAVS in antiviral innate immune responses JOURNAL Immunity 24 (5), 633-642 (2006) PUBMED 16713980 REFERENCE 8 (residues 1 to 503) AUTHORS Meylan E, Curran J, Hofmann K, Moradpour D, Binder M, Bartenschlager R and Tschopp J. TITLE Cardif is an adaptor protein in the RIG-I antiviral pathway and is targeted by hepatitis C virus JOURNAL Nature 437 (7062), 1167-1172 (2005) PUBMED 16177806 REFERENCE 9 (residues 1 to 503) AUTHORS Xu LG, Wang YY, Han KJ, Li LY, Zhai Z and Shu HB. TITLE VISA is an adapter protein required for virus-triggered IFN-beta signaling JOURNAL Mol Cell 19 (6), 727-740 (2005) PUBMED 16153868 REMARK GeneRIF: Data suggest that VISA is critically involved in both virus-triggered TLR3-independent and TLR3-mediated antiviral interferon signaling. REFERENCE 10 (residues 1 to 503) AUTHORS Seth RB, Sun L, Ea CK and Chen ZJ. TITLE Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-kappaB and IRF 3 JOURNAL Cell 122 (5), 669-682 (2005) PUBMED 16125763 REMARK GeneRIF: The overexpression of mitochondrial antiviral signaling(MAVS)induces the expression of IFN-beta through activation of NF-kappaB and IRF 3, thus boosting antiviral immunity. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL808128.4. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025825.1, AK085038.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16125763; reported by MitoCarta ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.3 cM" Protein 1..503 /product="mitochondrial antiviral-signaling protein isoform 1" /note="IFN-beta promoter stimulator-1; mitochondrial anti-viral signaling protein; virus-induced signaling adapter; CARD adapter inducing interferon beta; interferon beta promoter stimulator protein 1" /calculated_mol_wt=53268 Region 3..93 /region_name="CARD_IPS1" /note="Caspase activation and recruitment domain (CARD) found in IPS-1; cd08811" /db_xref="CDD:260073" Region 10..77 /region_name="Required for interaction with NLRX1. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 119..202 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 143..147 /region_name="Interaction with TRAF2. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 152 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 153..158 /region_name="Interaction with TRAF6 1. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 157 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 172 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 186 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 220 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 234 /site_type="methylation" /note="Asymmetric dimethylarginine. /evidence=ECO:0007744|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 251 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 256 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 337..503 /region_name="Interaction with DHX33. /evidence=ECO:0000269|PubMed:24037184" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 346..398 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 384 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 405..406 /site_type="cleavage" /note="Cleavage, by CASP3. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 415..418 /region_name="pLxIS motif. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 418 /site_type="phosphorylation" /note="Phosphoserine, by TBK1. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 431..436 /region_name="Interaction with TRAF6 2. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 446..466 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 479..496 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" CDS 1..503 /gene="Mavs" /gene_synonym="cardif; D430028G21Rik; IPS-1; Visa" /coded_by="NM_144888.2:352..1863" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS16760.1" /db_xref="GeneID:228607" /db_xref="MGI:MGI:2444773" ORIGIN 1 mtfaedktyk yirdnhskfc cvdvleilpy lscltasdqd rlrasyrqig nrdtlwglfn 61 nlqrrpgwve vfiralqice lpgladqvtr vyqsylppgt slrsleplql pdfpaavsgp 121 safapghnip dhglretpsc pkpvqdtqpp espvenseql lqtnsgavar msggslipsp 181 nqqalspqps rehqeqepel ggahaanvas vpiatygpvs ptvsfqplpr talrtnllsg 241 vtvsalsadt slsssstgsa fakgagdqak aatcfsttlt nsvttssvps prlvpvktms 301 sklplsskst aamtstvltn tapsklpsns vyagtvpsrv pasvakapan tippernskq 361 aketpegpat kvttggnqtg pnssirslhs gpemskpgvl vsqldepfsa csvdlaisps 421 sslvsepnhg peeneyssfr iqvdespsad llgspeplat qqpqeeeehc assmpwakwl 481 gatsallavf lavmlyrsrr laq // LOCUS NP_067618 302 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein kinase Nek7 isoform 1 [Mus musculus]. ACCESSION NP_067618 VERSION NP_067618.1 DBSOURCE REFSEQ: accession NM_021605.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 302) AUTHORS Park YJ, Dodantenna N, Kim Y, Kim TH, Lee HS, Yoo YS, Heo J, Lee JH, Kwon MH, Kang HC, Lee JS and Cho H. TITLE MARCH5-dependent NLRP3 ubiquitination is required for mitochondrial NLRP3-NEK7 complex formation and NLRP3 inflammasome activation JOURNAL EMBO J 42 (19), e113481 (2023) PUBMED 37575012 REMARK GeneRIF: MARCH5-dependent NLRP3 ubiquitination is required for mitochondrial NLRP3-NEK7 complex formation and NLRP3 inflammasome activation. REFERENCE 2 (residues 1 to 302) AUTHORS Sun W, Yue M, Xi G, Wang K and Sai J. TITLE Knockdown of NEK7 alleviates anterior cruciate ligament transection osteoarthritis (ACLT)-induced knee osteoarthritis in mice via inhibiting NLRP3 activation JOURNAL Autoimmunity 55 (6), 398-407 (2022) PUBMED 35798413 REMARK GeneRIF: Knockdown of NEK7 alleviates anterior cruciate ligament transection osteoarthritis (ACLT)-induced knee osteoarthritis in mice via inhibiting NLRP3 activation. REFERENCE 3 (residues 1 to 302) AUTHORS Zhang M, Zhi D, Lin J, Liu P, Wang Y and Duan M. TITLE miR-181a-5p Inhibits Pyroptosis in Sepsis-Induced Acute Kidney Injury through Downregulation of NEK7 JOURNAL J Immunol Res 2022, 1825490 (2022) PUBMED 35991122 REMARK GeneRIF: miR-181a-5p Inhibits Pyroptosis in Sepsis-Induced Acute Kidney Injury through Downregulation of NEK7. Publication Status: Online-Only REFERENCE 4 (residues 1 to 302) AUTHORS Wu G, Zhang D, Yang L, Wu Q and Yuan L. TITLE MicroRNA-200c-5p targets NIMA Related Kinase 7 (NEK7) to inhibit NOD-like receptor 3 (NLRP3) inflammasome activation, MODE-K cell pyroptosis, and inflammatory bowel disease in mice JOURNAL Mol Immunol 146, 57-68 (2022) PUBMED 35447415 REMARK GeneRIF: MicroRNA-200c-5p targets NIMA Related Kinase 7 (NEK7) to inhibit NOD-like receptor 3 (NLRP3) inflammasome activation, MODE-K cell pyroptosis, and inflammatory bowel disease in mice. REFERENCE 5 (residues 1 to 302) AUTHORS Jeltema D, Wang J, Cai J, Kelley N, Yang Z and He Y. TITLE A Single Amino Acid Residue Defines the Difference in NLRP3 Inflammasome Activation between NEK7 and NEK6 JOURNAL J Immunol 208 (8), 2029-2036 (2022) PUBMED 35354613 REMARK GeneRIF: A Single Amino Acid Residue Defines the Difference in NLRP3 Inflammasome Activation between NEK7 and NEK6. REFERENCE 6 (residues 1 to 302) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 7 (residues 1 to 302) AUTHORS Morrish TA, Gilbert N, Myers JS, Vincent BJ, Stamato TD, Taccioli GE, Batzer MA and Moran JV. TITLE DNA repair mediated by endonuclease-independent LINE-1 retrotransposition JOURNAL Nat Genet 31 (2), 159-165 (2002) PUBMED 12006980 REFERENCE 8 (residues 1 to 302) AUTHORS Feige E and Motro B. TITLE The related murine kinases, Nek6 and Nek7, display distinct patterns of expression JOURNAL Mech Dev 110 (1-2), 219-223 (2002) PUBMED 11744387 REMARK GeneRIF: During early embryogenesis nek7 is expressed in the site of decidual reaction. Later in embryogenesis, nek7 is highly expressed in the dorsal thalamus. REFERENCE 9 (residues 1 to 302) AUTHORS Kimura M and Okano Y. TITLE Identification and assignment of the human NIMA-related protein kinase 7 gene (NEK7) to human chromosome 1q31.3 JOURNAL Cytogenet Cell Genet 94 (1-2), 33-38 (2001) PUBMED 11701951 REFERENCE 10 (residues 1 to 302) AUTHORS Kandli M, Feige E, Chen A, Kilfin G and Motro B. TITLE Isolation and characterization of two evolutionarily conserved murine kinases (Nek6 and nek7) related to the fungal mitotic regulator, NIMA JOURNAL Genomics 68 (2), 187-196 (2000) PUBMED 10964517 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC118216.15 and AC161436.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK149308.1, AK035502.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164143 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..302 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 60.82 cM" Protein 1..302 /product="serine/threonine-protein kinase Nek7 isoform 1" /EC_number="2.7.11.34" /note="NIMA-related kinase 7; serine/threonine-protein kinase Nek7; nimA-related protein kinase 7; never in mitosis A-related kinase 7; NIMA-related expressed kinase 7" /calculated_mol_wt=34406 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Site 5 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Region 20..33 /region_name="NTE motif. /evidence=ECO:0000250|UniProtKB:Q8TDX7" /note="propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Region 33..294 /region_name="STKc_Nek6_7" /note="Catalytic domain of the Serine/Threonine Kinases, Never In Mitosis gene A (NIMA)-related kinase 6 and 7; cd08224" /db_xref="CDD:270863" Site order(40..44,48,61,63,95,111..114,118,120,161,163, 165..166,168,179,182,184,198..201) /site_type="active" /db_xref="CDD:270863" Site order(40..41,43..44,48,61,63,95,112..114,118,166,168,184) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270863" Site order(44,118,120,161,163,165,182,198..201) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270863" Site 97 /site_type="other" /note="Autoinhibitory. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Site 178..201 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270863" Site 195 /site_type="phosphorylation" /note="Phosphoserine, by NEK9. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" CDS 1..302 /gene="Nek7" /gene_synonym="2810460C19Rik" /coded_by="NM_021605.5:219..1127" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS15332.1" /db_xref="GeneID:59125" /db_xref="MGI:MGI:1890645" ORIGIN 1 mdeqsqgmqg ppvtqfqpqk alrpdmgynt lanfriekki grgqfsevyr asclldgvpv 61 alkkvqifdl mdakaradci keidllkqln hpnvikyyas fiednelniv leladagdls 121 rmikhfkkqk rlipertvwk yfvqlcsald hmhsrrvmhr dikpanvfit atgvvklgdl 181 glgrffsskt taahslvgtp yymsperihe ngynfksdiw slgcllyema alqspfygdk 241 mnlyslckki eqcdypplps dhyseelrql vnicinpdpe krpdiayvyd vakrmhacta 301 st // LOCUS NP_001278100 473 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform h [Mus musculus]. ACCESSION NP_001278100 VERSION NP_001278100.1 DBSOURCE REFSEQ: accession NM_001291171.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 473) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 473) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 473) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 473) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 473) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 473) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 473) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 473) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 473) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 473) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887585.1 and BP757417.1. Transcript Variant: This variant (8, also known as IA-deltaII-Xa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (h) is shorter at at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 8 and 13 encode isoform h. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887585.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..473 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..473 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform h" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=52180 Region <1..124 /region_name="RHD-n" /note="N-terminal sub-domain of the Rel homology domain (RHD); cl08275" /db_xref="CDD:447596" Region 129..229 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(153,217) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..473 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291171.1:374..1795" /note="isoform h is encoded by transcript variant 8" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv leiplepknn 61 mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv slqaasnpie 121 csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg qqiwemeatv 181 dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv paiktepsde 241 yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp daryqqqspa 301 aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst lphtssasqq 361 aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls pgayptviqq 421 qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtyldde lidthlswiq nil // LOCUS NP_001390661 733 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 4 [Mus musculus]. ACCESSION NP_001390661 VERSION NP_001390661.1 DBSOURCE REFSEQ: accession NM_001403732.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 733) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 733) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 733) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 733) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 733) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 733) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 733) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 733) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 733) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 733) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784646.823109.1, SRR13422598.816888.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..733 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..733 /product="transcriptional repressor CTCF isoform 4" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83313 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 696..723 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..733 /gene="Ctcf" /coded_by="NM_001403732.1:143..2344" /note="isoform 4 is encoded by transcript variant 12" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqpiiqve dqntgaieni ivevkkepda epaegeeeea qaattdapng 721 dltpemilsm mdr // LOCUS NP_001103775 624 aa linear ROD 09-OCT-2023 DEFINITION kelch-like ECH-associated protein 1 [Mus musculus]. ACCESSION NP_001103775 VERSION NP_001103775.1 DBSOURCE REFSEQ: accession NM_001110305.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 624) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 624) AUTHORS Baird L, Taguchi K, Zhang A, Takahashi Y, Suzuki T, Kensler TW and Yamamoto M. TITLE A NRF2-induced secretory phenotype activates immune surveillance to remove irreparably damaged cells JOURNAL Redox Biol 66, 102845 (2023) PUBMED 37597423 REFERENCE 3 (residues 1 to 624) AUTHORS Zhang A, Suzuki T, Adachi S, Yoshida E, Sakaguchi S and Yamamoto M. TITLE Nrf2 activation improves experimental rheumatoid arthritis JOURNAL Free Radic Biol Med 207, 279-295 (2023) PUBMED 37494986 REMARK GeneRIF: Nrf2 activation improves experimental rheumatoid arthritis. REFERENCE 4 (residues 1 to 624) AUTHORS Ushimoto C, Sugiki S, Kunii K, Inoue S, Kuroda E, Akai R, Iwawaki T and Miyazawa K. TITLE Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation JOURNAL Free Radic Biol Med 207, 120-132 (2023) PUBMED 37451369 REMARK GeneRIF: Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation. REFERENCE 5 (residues 1 to 624) AUTHORS Zhou M, Barkema HW, Gao J, Yang J, Wang Y, Kastelic JP, Khan S, Liu G and Han B. TITLE MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands JOURNAL Vet Res 54 (1), 78 (2023) PUBMED 37710276 REMARK GeneRIF: MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands. Publication Status: Online-Only REFERENCE 6 (residues 1 to 624) AUTHORS Zipper LM and Mulcahy RT. TITLE The Keap1 BTB/POZ dimerization function is required to sequester Nrf2 in cytoplasm JOURNAL J Biol Chem 277 (39), 36544-36552 (2002) PUBMED 12145307 REFERENCE 7 (residues 1 to 624) AUTHORS Dinkova-Kostova AT, Holtzclaw WD, Cole RN, Itoh K, Wakabayashi N, Katoh Y, Yamamoto M and Talalay P. TITLE Direct evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants JOURNAL Proc Natl Acad Sci U S A 99 (18), 11908-11913 (2002) PUBMED 12193649 REMARK GeneRIF: evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants REFERENCE 8 (residues 1 to 624) AUTHORS Kotilinek LA, Bacskai B, Westerman M, Kawarabayashi T, Younkin L, Hyman BT, Younkin S and Ashe KH. TITLE Reversible memory loss in a mouse transgenic model of Alzheimer's disease JOURNAL J Neurosci 22 (15), 6331-6335 (2002) PUBMED 12151510 REFERENCE 9 (residues 1 to 624) AUTHORS Itoh K, Wakabayashi N, Katoh Y, Ishii T, Igarashi K, Engel JD and Yamamoto M. TITLE Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain JOURNAL Genes Dev 13 (1), 76-86 (1999) PUBMED 9887101 REFERENCE 10 (residues 1 to 624) AUTHORS Chu CC and Paul WE. TITLE Expressed genes in interleukin-4 treated B cells identified by cDNA representational difference analysis JOURNAL Mol Immunol 35 (8), 487-502 (1998) PUBMED 9798653 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC163637.4, AK150485.1, AK159858.1 and BY586021.1. Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 all encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK039549.1, AK046178.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..624 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 7.74 cM" Protein 1..624 /product="kelch-like ECH-associated protein 1" /note="NRF2 cytosolic inhibitor; cytosolic inhibitor of Nrf2; ring canal protein" /calculated_mol_wt=69422 Region 56..180 /region_name="BTB_POZ_KLHL19_KEAP1" /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1); cd18248" /db_xref="CDD:349557" Region 95..596 /region_name="PHA03098" /note="kelch-like protein; Provisional" /db_xref="CDD:222983" Site order(106,109..110,115..117,125..126,157,161..162) /site_type="other" /note="cullin binding site [polypeptide binding]" /db_xref="CDD:349557" Site order(129,131..132,147..148,150..151,154) /site_type="other" /note="modulator binding site [chemical binding]" /db_xref="CDD:349557" Site 151 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:18268004, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 257 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000250|UniProtKB:Q14145; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 273 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 288 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 327..372 /region_name="Kelch 1" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 362..409 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 373..423 /region_name="Kelch 2" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 413..456 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 424..470 /region_name="Kelch 3" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 434 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:20498371; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 460..503 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 471..517 /region_name="Kelch 4" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 507..551 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 519..564 /region_name="Kelch 5" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 554..597 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 565..611 /region_name="Kelch 6" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" CDS 1..624 /gene="Keap1" /gene_synonym="INRF2; mKIAA0132" /coded_by="NM_001110305.1:588..2462" /db_xref="CCDS:CCDS22897.1" /db_xref="GeneID:50868" /db_xref="MGI:MGI:1858732" ORIGIN 1 mqpepklsga prssqflplw skcpegagda vmyastecka evtpsqdgnr tfsytledht 61 kqafgvmnel rlsqqlcdvt lqvkyedipa aqfmahkvvl assspvfkam ftnglreqgm 121 evvsiegihp kvmerliefa ytasisvgek cvlhvmngav myqidsvvra csdflvqqld 181 psnaigianf aeqigctelh qrareyiymh fgevakqeef fnlshcqlat lisrddlnvr 241 cesevfhaci dwvkydcpqr rfyvqallra vrchaltprf lqtqlqkcei lqadarckdy 301 lvqifqeltl hkptqavpcr apkvgrliyt aggyfrqsls yleaynpsng swlrladlqv 361 prsglagcvv ggllyavggr nnspdgntds saldcynpmt nqwspcasms vprnrigvgv 421 idghiyavgg shgcihhssv eryeperdew hlvapmltrr igvgvavlnr llyavggfdg 481 tnrlnsaecy ypernewrmi tpmntirsga gvcvlhnciy aaggydgqdq lnsverydve 541 tetwtfvapm rhhrsalgit vhqgkiyvlg gydghtflds vecydpdsdt wsevtrmtsg 601 rsgvgvavtm epcrkqidqq nctc // LOCUS NP_001152865 304 aa linear ROD 09-OCT-2023 DEFINITION interferon regulatory factor 1 isoform b [Mus musculus]. ACCESSION NP_001152865 VERSION NP_001152865.1 DBSOURCE REFSEQ: accession NM_001159393.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 304) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 304) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 304) AUTHORS Gungabeesoon J, Gort-Freitas NA, Kiss M, Bolli E, Messemaker M, Siwicki M, Hicham M, Bill R, Koch P, Cianciaruso C, Duval F, Pfirschke C, Mazzola M, Peters S, Homicsko K, Garris C, Weissleder R, Klein AM and Pittet MJ. TITLE A neutrophil response linked to tumor control in immunotherapy JOURNAL Cell 186 (7), 1448-1464 (2023) PUBMED 37001504 REFERENCE 4 (residues 1 to 304) AUTHORS Chen X, Qi D, Fan S, He Y, Jing H and Wang D. TITLE Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury JOURNAL Clin Sci (Lond) 137 (5), 367-383 (2023) PUBMED 36857175 REMARK GeneRIF: Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury. REFERENCE 5 (residues 1 to 304) AUTHORS Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Turel O, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guerin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudee C, Paz MEJ, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martinez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Levy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Beziat V, Lachmann N, Langlais D, Casanova JL, Gros P and Bustamante J. TITLE Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria JOURNAL Cell 186 (3), 621-645 (2023) PUBMED 36736301 REFERENCE 6 (residues 1 to 304) AUTHORS Gribaudo G, Caliendo A, Lembo D, Cavallo R and Landolfo S. TITLE Molecular cloning of interferon-gamma inducible genes from a murine pre-B cell leukemia JOURNAL J Biol Regul Homeost Agents 6 (4), 137-141 (1992) PUBMED 1296455 REFERENCE 7 (residues 1 to 304) AUTHORS Tanaka N and Taniguchi T. TITLE Cytokine gene regulation: regulatory cis-elements and DNA binding factors involved in the interferon system JOURNAL Adv Immunol 52, 263-281 (1992) PUBMED 1442307 REMARK Review article REFERENCE 8 (residues 1 to 304) AUTHORS Buckwalter MS, Lossie AC, Scarlett LM and Camper SA. TITLE Localization of the human chromosome 5q genes Gabra-1, Gabrg-2, Il-4, Il-5, and Irf-1 on mouse chromosome 11 JOURNAL Mamm Genome 3 (10), 604-607 (1992) PUBMED 1358285 REFERENCE 9 (residues 1 to 304) AUTHORS Driggers PH, Ennist DL, Gleason SL, Mak WH, Marks MS, Levi BZ, Flanagan JR, Appella E and Ozato K. TITLE An interferon gamma-regulated protein that binds the interferon-inducible enhancer element of major histocompatibility complex class I genes JOURNAL Proc Natl Acad Sci U S A 87 (10), 3743-3747 (1990) PUBMED 2111015 REFERENCE 10 (residues 1 to 304) AUTHORS Harada H, Fujita T, Miyamoto M, Kimura Y, Maruyama M, Furia A, Miyata T and Taniguchi T. TITLE Structurally similar but functionally distinct factors, IRF-1 and IRF-2, bind to the same regulatory elements of IFN and IFN-inducible genes JOURNAL Cell 58 (4), 729-739 (1989) PUBMED 2475256 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY266109.1 and AK152193.1. Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK152193.1, AK153514.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..304 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 32.0 cM" Protein 1..304 /product="interferon regulatory factor 1 isoform b" /calculated_mol_wt=34496 Region 7..112 /region_name="IRF" /note="Interferon regulatory factor transcription factor; pfam00605" /db_xref="CDD:425772" Site order(40,80,82..83,86) /site_type="other" /note="DNA sequence recognition sites [nucleotide binding]" /db_xref="CDD:238051" Site 78 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P10914; propagated from UniProtKB/Swiss-Prot (P15314.1)" Site order(85..86,88,91) /site_type="metal-binding" /db_xref="CDD:238051" Region 93..166 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P15314.1)" CDS 1..304 /gene="Irf1" /gene_synonym="Irf-1" /coded_by="NM_001159393.1:270..1184" /note="isoform b is encoded by transcript variant 3" /db_xref="CCDS:CCDS48796.1" /db_xref="GeneID:16362" /db_xref="MGI:MGI:96590" ORIGIN 1 mpitrmrmrp wlemqinsnq ipgliwinke emifqipwkh aakhgwdink daclfrswai 61 htgrykagek epdpktwkan frcamnslpd ieevkdqsrn kgssavrvyr mlppltrnqr 121 kerkskssrd tksktkrklc gdvspdtfsd glssstlpdd hssyttqgyl gqdldmerdi 181 tpalspcvvs sslsewhmqm diipdsttdl ynlqvspmps tseaatdede egkiaedlmk 241 lfeqsewqpt hidgkgylln epgtqlssvy gdfsckeepe idsprgnllm gvfcwlsawa 301 saeh // LOCUS NP_001397157 515 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform f [Mus musculus]. ACCESSION NP_001397157 XP_036021814 VERSION NP_001397157.1 DBSOURCE REFSEQ: accession NM_001410228.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 515) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 515) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 515) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 515) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 515) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 515) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 515) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 515) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_036021814.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784643.1299742.1, SRR9219382.55428.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..515 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..515 /product="nuclear respiratory factor 1 isoform f" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=54726 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 462..514 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..515 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410228.1:271..1818" /note="isoform f is encoded by transcript variant 18" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglvqipvsm yqtvvtslaq 481 gngpvqvama pvttrisdsa vtmdgqavev vtleq // LOCUS NP_001277414 416 aa linear ROD 09-OCT-2023 DEFINITION lysosome-associated membrane glycoprotein 2 isoform 3 precursor [Mus musculus]. ACCESSION NP_001277414 XP_006541493 VERSION NP_001277414.1 DBSOURCE REFSEQ: accession NM_001290485.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 416) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 416) AUTHORS Wang Y, Hang K, Ying L, Wu J, Wu X, Zhang W, Li L, Wang Z, Bai J, Gao X, Xue D and Pan Z. TITLE LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway JOURNAL J Mol Med (Berl) 101 (7), 783-799 (2023) PUBMED 37162558 REMARK GeneRIF: LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway. REFERENCE 3 (residues 1 to 416) AUTHORS Zhang KK, Zhang P, Kodur A, Erturk I, Burns CM, Kenyon C, Miller RA and Endicott SJ. TITLE LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice JOURNAL Aging (Albany NY) 15 (11), 4685-4698 (2023) PUBMED 37315291 REMARK GeneRIF: LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice. REFERENCE 4 (residues 1 to 416) AUTHORS Maglica M, Kelam N, Haque E, Perutina I, Racetin A, Filipovic N, Katsuyama Y and Vukojevic K. TITLE Immunoexpression Pattern of Autophagy Markers in Developing and Postnatal Kidneys of Dab1-/-(yotari) Mice JOURNAL Biomolecules 13 (3), 402 (2023) PUBMED 36979337 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 416) AUTHORS Sutton KA and Wilkinson MF. TITLE The rapidly evolving Pem homeobox gene and Agtr2, Ant2, and Lamp2 are closely linked in the proximal region of the mouse X chromosome JOURNAL Genomics 45 (2), 447-450 (1997) PUBMED 9344676 REFERENCE 6 (residues 1 to 416) AUTHORS Cella N, Cornejo-Uribe RR, Montes GS, Hynes NE and Chammas R. TITLE The lysosomal-associated membrane protein LAMP-1 is a novel differentiation marker for HC11 mouse mammary epithelial cells JOURNAL Differentiation 61 (2), 113-120 (1996) PUBMED 8983177 REFERENCE 7 (residues 1 to 416) AUTHORS Gough NR, Hatem CL and Fambrough DM. TITLE The family of LAMP-2 proteins arises by alternative splicing from a single gene: characterization of the avian LAMP-2 gene and identification of mammalian homologs of LAMP-2b and LAMP-2c JOURNAL DNA Cell Biol 14 (10), 863-867 (1995) PUBMED 7546292 REFERENCE 8 (residues 1 to 416) AUTHORS Dardik A, Smith RM and Schultz RM. TITLE Colocalization of transforming growth factor-alpha and a functional epidermal growth factor receptor (EGFR) to the inner cell mass and preferential localization of the EGFR on the basolateral surface of the trophectoderm in the mouse blastocyst JOURNAL Dev Biol 154 (2), 396-409 (1992) PUBMED 1426645 REFERENCE 9 (residues 1 to 416) AUTHORS Granger BL, Green SA, Gabel CA, Howe CL, Mellman I and Helenius A. TITLE Characterization and cloning of lgp110, a lysosomal membrane glycoprotein from mouse and rat cells JOURNAL J Biol Chem 265 (20), 12036-12043 (1990) PUBMED 2142158 REFERENCE 10 (residues 1 to 416) AUTHORS Cha Y, Holland SM and August JT. TITLE The cDNA sequence of mouse LAMP-2. Evidence for two classes of lysosomal membrane glycoproteins JOURNAL J Biol Chem 265 (9), 5008-5013 (1990) PUBMED 2318880 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK163933.1, AK078193.1, BQ176100.1 and AL513356.8. On Mar 13, 2014 this sequence version replaced XP_006541493.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK078193.1, SRR17784650.1034226.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..416 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 22.67 cM" Protein 1..416 /product="lysosome-associated membrane glycoprotein 2 isoform 3 precursor" /note="lysosome-associated membrane glycoprotein 2; CD107 antigen-like family member B; lysosomal membrane glycoprotein type B; lysosomal membrane glycoprotein 2" /calculated_mol_wt=43181 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2634 Region 225..363 /region_name="Lamp" /note="Lysosome-associated membrane glycoprotein (Lamp); pfam01299" /db_xref="CDD:426189" CDS 1..416 /gene="Lamp2" /gene_synonym="CD107b; Lamp II; Lamp-2; Lamp-2a; Lamp-2b; Lamp-2c; LGP-B; Mac3" /coded_by="NM_001290485.2:158..1408" /note="isoform 3 precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS72369.1" /db_xref="GeneID:16784" /db_xref="MGI:MGI:96748" ORIGIN 1 mclspvkgak liliflflga vqsnalivnl tdskgtclya ewemnftity ettnqtnkti 61 tiavpdkath dgsscgddrn sakimiqfgf avswavnftk eashysihdi vlsyntsdst 121 vfpgavakgv htvknpenfk vpldvifkcn svltynltpv vqkywgihlq afvqngtvsk 181 neqvceedqt pttvapiiht tapsttttlt ptstptptpt ptptvgnysi rngnttclla 241 tmglqlnite ekvpfifnin pattnftgsc qpqsaqlrln nsqikyldfi favknekrfy 301 lkevnvymyl angsafnisn knlsfwdapl gssymcnkeq vlsvsrafqi ntfnlkvqpf 361 nvtkgqysta eecaadsdln flipvavgva lgfliiavfi symigrrksr tgyqsv // LOCUS NP_001349233 495 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 28 [Mus musculus]. ACCESSION NP_001349233 XP_017173282 VERSION NP_001349233.1 DBSOURCE REFSEQ: accession NM_001362304.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 495) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 495) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 495) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 495) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 495) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 495) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 495) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 495) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 495) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 495) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173282.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660825.85301.1, SRR1660811.210590.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..495 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..495 /product="CUGBP Elav-like family member 4 isoform 28" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=52901 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 141..221 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(143,145,147..148,151,170,172,174,182..184,186,216, 218) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 406..484 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..495 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362304.1:531..2018" /note="isoform 28 is encoded by transcript variant 33" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrge drklfvgmln kqqseddvrr lfeafgniee ctilrgpdgn 181 skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr mqqmagqmgm 241 fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma alnmnglaaa 301 pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan gihpypaqsp 361 taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc nlliyhlpqe 421 fgdaelmqmf lpfgnvissk vfvdratnqs kcfgfvsfdn pasaqtaiqa mngfqigmkr 481 lkvqlkrpkd anrpy // LOCUS NP_001342178 73 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3 [Mus musculus]. ACCESSION NP_001342178 VERSION NP_001342178.1 DBSOURCE REFSEQ: accession NM_001355249.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 73) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 73) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 73) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 73) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 73) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 73) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 73) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 73) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 73) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 73) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4. Transcript Variant: This variant (4) differs in the 5' UTR, lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 7 all encode the same protein (isoform 3). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG077183.2, SRR13422586.327073.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..73 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..73 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=7806 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 54 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 57 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" CDS 1..73 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001355249.2:176..397" /note="isoform 3 is encoded by transcript variant 4" /db_xref="CCDS:CCDS90055.1" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mnlfnldrfr fekrskieea peaapqpsqa rpsspislsa eeenaegegs rantpdsdvt 61 ektgsdfval alv // LOCUS NP_033098 1388 aa linear ROD 09-OCT-2023 DEFINITION rho-associated protein kinase 2 [Mus musculus]. ACCESSION NP_033098 VERSION NP_033098.2 DBSOURCE REFSEQ: accession NM_009072.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1388) AUTHORS Lee E, Chan SL, Lee Y, Polacheck WJ, Kwak S, Wen A, Nguyen DT, Kutys ML, Alimperti S, Kolarzyk AM, Kwak TJ, Eyckmans J, Bielenberg DR, Chen H and Chen CS. TITLE A 3D biomimetic model of lymphatics reveals cell-cell junction tightening and lymphedema via a cytokine-induced ROCK2/JAM-A complex JOURNAL Proc Natl Acad Sci U S A 120 (41), e2308941120 (2023) PUBMED 37782785 REMARK GeneRIF: A 3D biomimetic model of lymphatics reveals cell-cell junction tightening and lymphedema via a cytokine-induced ROCK2/JAM-A complex. REFERENCE 2 (residues 1 to 1388) AUTHORS Guo M, Zhang H, Zhang P, Yu J, Meng T, Li S, Song L, Chai Z, Yu J and Ma C. TITLE [Knock-down of ROCK2 gene improves cognitive function and reduces neuronal apoptosis in AD mice by promoting mitochondrial fusion and inhibiting its division] JOURNAL Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 39 (8), 701-707 (2023) PUBMED 37515336 REMARK GeneRIF: [Knock-down of ROCK2 gene improves cognitive function and reduces neuronal apoptosis in AD mice by promoting mitochondrial fusion and inhibiting its division]. REFERENCE 3 (residues 1 to 1388) AUTHORS Jin X, Liao X, Wu L, Huang J, Li Z, Li Y and Guo F. TITLE FOXO4 alleviates hippocampal neuronal damage in epileptic mice via the miR-138-5p/ROCK2 axis JOURNAL Am J Med Genet B Neuropsychiatr Genet 189 (7-8), 271-284 (2022) PUBMED 35796190 REMARK GeneRIF: FOXO4 alleviates hippocampal neuronal damage in epileptic mice via the miR-138-5p/ROCK2 axis. REFERENCE 4 (residues 1 to 1388) AUTHORS Tseng CC, Zheng RH, Lin TW, Chou CC, Shih YC, Liang SW and Lee HH. TITLE alpha-Actinin-4 recruits Shp2 into focal adhesions to potentiate ROCK2 activation in podocytes JOURNAL Life Sci Alliance 5 (11), e202201557 (2022) PUBMED 36096674 REMARK GeneRIF: alpha-Actinin-4 recruits Shp2 into focal adhesions to potentiate ROCK2 activation in podocytes. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1388) AUTHORS Chatterjee S, Patra D, Ghosh P, Banerjee S, Chowdhury KD, Chakraborty P, Basu A and Sadhukhan GC. TITLE Activity of ROCKII not ROCKI promotes pulmonary metastasis of melanoma cells via modulating Smad2/3-MMP9 and FAK-Src-VEGF signalling JOURNAL Cell Signal 97, 110389 (2022) PUBMED 35718242 REMARK GeneRIF: Activity of ROCKII not ROCKI promotes pulmonary metastasis of melanoma cells via modulating Smad2/3-MMP9 and FAK-Src-VEGF signalling. REFERENCE 6 (residues 1 to 1388) AUTHORS Zhao Z and Rivkees SA. TITLE Rho-associated kinases play an essential role in cardiac morphogenesis and cardiomyocyte proliferation JOURNAL Dev Dyn 226 (1), 24-32 (2003) PUBMED 12508221 REFERENCE 7 (residues 1 to 1388) AUTHORS Gaikwad JS, Cavender A and D'Souza RN. TITLE Identification of tooth-specific downstream targets of Runx2 JOURNAL Gene 279 (1), 91-97 (2001) PUBMED 11722849 REFERENCE 8 (residues 1 to 1388) AUTHORS Wei L, Roberts W, Wang L, Yamada M, Zhang S, Zhao Z, Rivkees SA, Schwartz RJ and Imanaka-Yoshida K. TITLE Rho kinases play an obligatory role in vertebrate embryonic organogenesis JOURNAL Development 128 (15), 2953-2962 (2001) PUBMED 11532918 REFERENCE 9 (residues 1 to 1388) AUTHORS Di Cunto F, Imarisio S, Hirsch E, Broccoli V, Bulfone A, Migheli A, Atzori C, Turco E, Triolo R, Dotto GP, Silengo L and Altruda F. TITLE Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis JOURNAL Neuron 28 (1), 115-127 (2000) PUBMED 11086988 REFERENCE 10 (residues 1 to 1388) AUTHORS Nakagawa O, Fujisawa K, Ishizaki T, Saito Y, Nakao K and Narumiya S. TITLE ROCK-I and ROCK-II, two isoforms of Rho-associated coiled-coil forming protein serine/threonine kinase in mice JOURNAL FEBS Lett 392 (2), 189-193 (1996) PUBMED 8772201 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ127012.1, AK163082.1, U58513.1, AK045517.1, CN536850.1, AK048955.1 and AK153280.1. On Mar 31, 2007 this sequence version replaced NP_033098.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1388 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 8.04 cM" Protein 1..1388 /product="rho-associated protein kinase 2" /EC_number="2.7.11.1" /note="p164 ROCK-2; rho-associated, coiled-coil-containing protein kinase 2; Rho-associated coiled-coil forming kinage 2; rho-associated, coiled-coil-containing protein kinase II" /calculated_mol_wt=160485 Region 1..26 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Region 39..417 /region_name="STKc_ROCK2" /note="Catalytic domain of the Serine/Threonine Kinase, Rho-associated coiled-coil containing protein kinase 2; cd05621" /db_xref="CDD:270771" Site order(53,65,67,71,74..75,78,84..88,91,157,404..406, 408..409,411,416) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:270771" Site order(98..102,106,119,121,153,169..170,172,176,178,214, 216,218..219,221,231..232,235,250..255,286,292,295) /site_type="active" /db_xref="CDD:270771" Site order(98..102,106,119,121,153,170..172,176,214,216, 218..219,221,231..232) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270771" Site order(102,176,178,214,216,218,235,250..255,286,292,295) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270771" Site 231..255 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270771" Region 363..784 /region_name="Interaction with PPP1R12A. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Region 373..420 /region_name="Interaction with NPM1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 410..415 /site_type="other" /note="hydrophobic motif (HM)" /db_xref="CDD:270771" Site 414 /site_type="phosphorylation" /note="Phosphothreonine, by ROCK2. /evidence=ECO:0000250|UniProtKB:Q62868; propagated from UniProtKB/Swiss-Prot (P70336.1)" Region <437..1101 /region_name="Smc" /note="Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]; COG1196" /db_xref="CDD:224117" Region 512..532 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 722 /site_type="phosphorylation" /note="Phosphotyrosine, by SRC. /evidence=ECO:0000250|UniProtKB:O75116; propagated from UniProtKB/Swiss-Prot (P70336.1)" Region 856..936 /region_name="ROCK_SBD" /note="Shroom-binding domain found in Rho-associated coiled-coil containing protein kinase; cd22250" /db_xref="CDD:409019" Site order(859,862..863,865..866,869..870,872..873,876..877, 879..880,883..884,886..887,890..891,900,904) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:409019" Site order(861,864..865,867..869,871..872,874..879,882) /site_type="other" /note="Shroom binding site [polypeptide binding]" /db_xref="CDD:409019" Region 979..1047 /region_name="RHOA binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 1131..1132 /site_type="cleavage" /note="Cleavage, by granzyme B; propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 1137 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70336.1)" Region 1151..1257 /region_name="PH_ROCK" /note="Rho-associated coiled-coil containing protein kinase pleckstrin homology (PH) domain; cd01242" /db_xref="CDD:269948" Site 1212 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:O75116; propagated from UniProtKB/Swiss-Prot (P70336.1)" Region 1250..1320 /region_name="C1_ROCK2" /note="protein kinase C conserved region 1 (C1 domain) found in Rho-associated coiled-coil containing protein kinase 2 (ROCK2) and similar proteins; cd20875" /db_xref="CDD:410425" Region 1345..1388 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 1362 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O75116; propagated from UniProtKB/Swiss-Prot (P70336.1)" Site 1374 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70336.1)" CDS 1..1388 /gene="Rock2" /gene_synonym="B230113H15Rik; mKIAA0619; Rho-kinase; Rock-II; Rock2m; ROKalpha" /coded_by="NM_009072.2:213..4379" /db_xref="CCDS:CCDS36410.1" /db_xref="GeneID:19878" /db_xref="MGI:MGI:107926" ORIGIN 1 msrppptgkm pgapetapgd gagagrqrkl ealirdprsp inveslldgl nslvldldfp 61 alrknknidn flnryekivk kirglqmkae dydvvkvigr gafgevqlvr hkasqkvyam 121 kllskfemik rsdsaffwee rdimafansp wvvqlfcafq ddrylymvme ympggdlvnl 181 msnydvpekw akfytaevvl aldaihsmgl ihrdvkpdnm lldkhghlkl adfgtcmkmd 241 etgmvhcdta vgtpdyispe vlksqggdgy ygrecdwwsv gvflfemlvg dtpfyadslv 301 gtyskimdhk nslcfpedte iskhaknlic afltdrevrl grngveeikq hpffkndqwn 361 wdniretaap vvpelssdid ssnfddiedd kgdvetfpip kafvgnqlpf igftyfrenl 421 llsdsppcre ndaiqtrkse esqeiqkkly aleehlssev qakeeleqkc ksintrlekt 481 akeleeeitl rksvestlrq lerekallqh knaeyqrkad headkkrnle ndvnslkdql 541 edlkkrnqss qistekvnql qkqldeanal lrtesdtaar lrktqaessk qiqqlesnnr 601 dlqdknclle taklklekef inlqsalese rrdrthgsei indlqgrisg leedlktgka 661 llakvelekr qlqekltdle keksnmeidm tyqlkviqqs leqeeaehkt tkarladknk 721 iyesieeaks eamkemekkl leerslkqkv enllleaekr csildcdlkq sqqklnellk 781 qkdvlnedvr nltlkieqet qkrclmqndl kmqtqqvntl kmsekqikqe nnhlmemkmn 841 lekqntelrk erqdadgqmk elqdqleaeq yfstlyktqv relkeeneek tklckelqqk 901 kqdlqderds laaqleitlt kadseqlars iaeeqysdle kekimkelei kemmarhkqe 961 ltekdttias leetnrtlts dvanlaneke elnnklkdsq eqlsklkdee msaaaikaqf 1021 ekqllnertl ktqavnklae imnrkepvkr gsdtdvrrke kenrklhmel kserekltqq 1081 mikyqkelne mqaqiaeesq irielqmtld skdsdieqlr sqlqalhigm dsssigsgpg 1141 daepddgfpe srlegwlslp vrnntkkfgw vkkyvivssk kilfydseqd keqsnpymvl 1201 didklfhvrp vtqtdvyrad akeiprifqi lyanegeskk epefpvepvg eksnyichkg 1261 hefiptlyhf ptnceacmkp lwhmfkpppa lecrrchikc hkdhmdkkee iiapckvyyd 1321 issaknllll ansteeqqkw vsrlvkkipk kppapdpfar ssprtsmkiq qnqsirrpsr 1381 qlapnkps // LOCUS NP_001295379 471 aa linear ROD 09-OCT-2023 DEFINITION aldehyde dehydrogenase, mitochondrial isoform 2 precursor [Mus musculus]. ACCESSION NP_001295379 VERSION NP_001295379.1 DBSOURCE REFSEQ: accession NM_001308450.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 471) AUTHORS Qu Y, Liu Y and Zhang H. TITLE ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy JOURNAL Clin Transl Oncol 25 (11), 3203-3216 (2023) PUBMED 37103763 REMARK GeneRIF: ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy. REFERENCE 2 (residues 1 to 471) AUTHORS Chang YC, Lee HL, Yang W, Hsieh ML, Liu CC, Lee TY, Huang JY, Nong JY, Li FA, Chuang HL, Ding ZZ, Su WL, Chueh LY, Tsai YT, Chen CH, Mochly-Rosen D and Chuang LM. TITLE A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators JOURNAL Nat Commun 14 (1), 5971 (2023) PUBMED 37749090 REMARK GeneRIF: A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators. Publication Status: Online-Only REFERENCE 3 (residues 1 to 471) AUTHORS Wang L, Tian M, Li R, Wu Y, Wang S, Lu H, Liu Z and Yu Y. TITLE [Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury] JOURNAL Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1388-1395 (2023) PUBMED 37712276 REMARK GeneRIF: [Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury]. REFERENCE 4 (residues 1 to 471) AUTHORS Wang M, Brandt LTL, Wang X, Russell H, Mitchell E, Kamimae-Lanning AN, Brown JM, Dingler FA, Garaycoechea JI, Isobe T, Kinston SJ, Gu M, Vassiliou GS, Wilson NK, Gottgens B and Patel KJ. TITLE Genotoxic aldehyde stress prematurely ages hematopoietic stem cells in a p53-driven manner JOURNAL Mol Cell 83 (14), 2417-2433 (2023) PUBMED 37348497 REFERENCE 5 (residues 1 to 471) AUTHORS Lee AS, Sung YL, Pan SH, Sung KT, Su CH, Ding SL, Lu YJ, Hsieh CL, Chen YF, Liu CC, Chen WY, Chen XR, Chung FP, Wang SW, Chen CH, Mochly-Rosen D, Hung CL, Yeh HI and Lin SF. TITLE A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice JOURNAL Commun Biol 6 (1), 610 (2023) PUBMED 37280327 REMARK GeneRIF: A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 471) AUTHORS Fijneman RJ and Demant P. TITLE A gene for susceptibility to small intestinal cancer, ssic1, maps to the distal part of mouse chromosome 4 JOURNAL Cancer Res 55 (14), 3179-3182 (1995) PUBMED 7606739 REFERENCE 7 (residues 1 to 471) AUTHORS Chang C and Yoshida A. TITLE Cloning and characterization of the gene encoding mouse mitochondrial aldehyde dehydrogenase JOURNAL Gene 148 (2), 331-336 (1994) PUBMED 7958964 REFERENCE 8 (residues 1 to 471) AUTHORS Caubin J, Iglesias T, Bernal J, Munoz A, Marquez G, Barbero JL and Zaballos A. TITLE Isolation of genomic DNA fragments corresponding to genes modulated in vivo by a transcription factor JOURNAL Nucleic Acids Res 22 (20), 4132-4138 (1994) PUBMED 7937138 REFERENCE 9 (residues 1 to 471) AUTHORS Chen M, Achkar C and Gudas LJ. TITLE Enzymatic conversion of retinaldehyde to retinoic acid by cloned murine cytosolic and mitochondrial aldehyde dehydrogenases JOURNAL Mol Pharmacol 46 (1), 88-96 (1994) PUBMED 8058062 REFERENCE 10 (residues 1 to 471) AUTHORS McCaffery P, Tempst P, Lara G and Drager UC. TITLE Aldehyde dehydrogenase is a positional marker in the retina JOURNAL Development 112 (3), 693-702 (1991) PUBMED 1935685 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK165032.1, AK043506.1 and CO039039.1. Transcript Variant: This variant (2) lacks two alternate 3' exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (2) has a shorter C-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK043506.1, SRR7345562.279537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..471 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 61.86 cM" Protein 1..471 /product="aldehyde dehydrogenase, mitochondrial isoform 2 precursor" /EC_number="1.2.1.3" /note="aldehyde dehydrogenase, mitochondrial; ALDH class 2" /calculated_mol_wt=49187 transit_peptide 1..19 /note="Mitochondrion. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P47738.1)" /calculated_mol_wt=2181 Region 33..471 /region_name="ALDH_F1AB_F2_RALDH1" /note="NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like; cd07141" /db_xref="CDD:143459" Site 54 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 75 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 80 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 161 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site order(184..187,211,214,244,248..249,262,265,268,288..289, 321,368,371,418) /site_type="other" /note="NAD binding site [chemical binding]" /db_xref="CDD:143459" Site order(188,287,318,321) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:143459" Site 188 /site_type="other" /note="Transition state stabilizer. /evidence=ECO:0000250|UniProtKB:P20000; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 370 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 377 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 385 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 409 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 428 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 430 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753, ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 443 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 453 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" CDS 1..471 /gene="Aldh2" /gene_synonym="Ahd-5; AHD-M1; Ahd5; ALDH-E2; ALDHI" /coded_by="NM_001308450.1:344..1759" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS84951.1" /db_xref="GeneID:11669" /db_xref="MGI:MGI:99600" ORIGIN 1 mlraalttvr rgprlsrlls aaatsavpap nhqpevfcnq ifinnewhda vsrktfptvn 61 pstgevicqv aegnkedvdk avkaaraafq lgspwrrmda sdrgrllyrl adlierdrty 121 laaletldng kpyvisylvd ldmvlkclry yagwadkyhg ktipidgdff sytrhepvgv 181 cgqiipwnfp llmqawklgp alatgnvvvm kvaeqtplta lyvanlikea gfppgvvniv 241 pgfgptagaa iashegvdkv aftgstevgh liqvaagssn lkrvtlelgg kspniimsda 301 dmdwaveqah falffnqgqc ccagsrtfvq envydefver svaraksrvv gnpfdsrteq 361 gpqvdetqfk kilgyiksgq qegakllcgg gaaadrgyfi qptvfgdvkd gmtiakeeif 421 gpvmqilkfk tieevvgran dskyglaaav ftkdldkany lsqalqagtv w // LOCUS NP_001013385 559 aa linear ROD 09-OCT-2023 DEFINITION 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 [Mus musculus]. ACCESSION NP_001013385 XP_139298 VERSION NP_001013385.3 DBSOURCE REFSEQ: accession NM_001013367.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 559) AUTHORS Yang Y, Yuan K, Liu Y, Wang Q, Lin Y, Yang S, Huang K, Kan T, Zhang Y, Xu M, Yu Z, Fan Q, Wang Y, Li H and Tang T. TITLE Constitutively activated AMPKalpha1 protects against skeletal aging in mice by promoting bone-derived IGF-1 secretion JOURNAL Cell Prolif 56 (10), e13476 (2023) PUBMED 37042047 REMARK GeneRIF: Constitutively activated AMPKalpha1 protects against skeletal aging in mice by promoting bone-derived IGF-1 secretion. REFERENCE 2 (residues 1 to 559) AUTHORS Zahedi E, Sadr SS, Sanaeierad A and Roghani M. TITLE Valproate-induced murine autism spectrum disorder is associated with dysfunction of amygdala parvalbumin interneurons and downregulation of AMPK/SIRT1/PGC1alpha signaling JOURNAL Metab Brain Dis 38 (6), 2093-2103 (2023) PUBMED 37184727 REMARK GeneRIF: Valproate-induced murine autism spectrum disorder is associated with dysfunction of amygdala parvalbumin interneurons and downregulation of AMPK/SIRT1/PGC1alpha signaling. REFERENCE 3 (residues 1 to 559) AUTHORS Knaus LS, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler FM, Knittl-Frank C, Tassinari M, Maulide N, Rulicke T, Menche J, Hippenmeyer S and Novarino G. TITLE Large neutral amino acid levels tune perinatal neuronal excitability and survival JOURNAL Cell 186 (9), 1950-1967 (2023) PUBMED 36996814 REFERENCE 4 (residues 1 to 559) AUTHORS Bustamante-Barrientos FA, Mendez-Ruette M, Molina L, Koning T, Ehrenfeld P, Gonzalez CB, Wyneken U, Henzi R and Batiz LF. TITLE Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK JOURNAL Front Cell Dev Biol 11, 1061777 (2023) PUBMED 37113766 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 559) AUTHORS Aguiar CF, Correa-da-Silva F, Gonzatti MB, Angelim MK, Pretti MA, Davanzo GG, Castelucci BG, Monteiro LB, Castro G, Virgilio-da-Silva JV, Ribeiro G, Jaccomo V, Pereira Andrade MC, Costa WL, Gambarini V, Terra FF, Alves-Filho JC, Saraiva Camara NO, Boroni M, Keller AC and Moraes-Vieira PM. TITLE Tissue-specific metabolic profile drives iNKT cell function during obesity and liver injury JOURNAL Cell Rep 42 (1), 112035 (2023) PUBMED 36848232 REFERENCE 6 (residues 1 to 559) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 7 (residues 1 to 559) AUTHORS Sato T, Sato-Harada R, Takano M, Kato S, Saburi S and Harada A. TITLE Localization of cAMP-dependent protein kinase in the actin and microtubule cytoskeletons in mouse hippocampal neurons JOURNAL Neurosci Lett 325 (2), 83-86 (2002) PUBMED 12044627 REFERENCE 8 (residues 1 to 559) AUTHORS Fryer LG, Foufelle F, Barnes K, Baldwin SA, Woods A and Carling D. TITLE Characterization of the role of the AMP-activated protein kinase in the stimulation of glucose transport in skeletal muscle cells JOURNAL Biochem J 363 (Pt 1), 167-174 (2002) PUBMED 11903059 REFERENCE 9 (residues 1 to 559) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 REFERENCE 10 (residues 1 to 559) AUTHORS Turnley AM, Stapleton D, Mann RJ, Witters LA, Kemp BE and Bartlett PF. TITLE Cellular distribution and developmental expression of AMP-activated protein kinase isoforms in mouse central nervous system JOURNAL J Neurochem 72 (4), 1707-1716 (1999) PUBMED 10098881 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY134921.1, AK160612.1, CB245934.1, AK081874.1 and AC135079.9. On May 5, 2006 this sequence version replaced NP_001013385.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC086695.1, SRR1660813.253715.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..559 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 1.99 cM" Protein 1..559 /product="5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1" /EC_number="2.7.11.1" /EC_number="2.7.11.26" /EC_number="2.7.11.27" /EC_number="2.7.11.31" /note="5'-AMP-activated protein kinase catalytic subunit alpha-1; AMP-activated protein kinase, alpha 1 catalytic subunit; AMPK subunit alpha-1; ACACA kinase; HMGCR kinase; acetyl-CoA carboxylase kinase; hydroxymethylglutaryl-CoA reductase kinase; tau-protein kinase PRKAA1" /calculated_mol_wt=63798 Region 24..279 /region_name="STKc_AMPK_alpha" /note="Catalytic domain of the Alpha subunit of the Serine/Threonine Kinase, AMP-activated protein kinase; cd14079" /db_xref="CDD:270981" Site 32 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site order(33..37,41,54,56,88,104..107,111,113..114,116, 149..150,152,154..155,157,167..168,171,185..189,191, 221..224) /site_type="active" /db_xref="CDD:270981" Site order(33..36,41,54,56,88,104..107,111,154..155,157, 167..168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270981" Site order(111,113..114,116,150,152,154,171,185..189,191, 221..224) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270981" Site 167..189 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270981" Site order(175..180,199..200,202,205,265) /site_type="other" /note="heterotrimer interface [polypeptide binding]" /db_xref="CDD:270981" Site 183 /site_type="phosphorylation" /note="Phosphothreonine, by LKB1 and CaMKK2. /evidence=ECO:0000269|PubMed:15980064, ECO:0000269|PubMed:16054095, ECO:0000269|PubMed:16308421; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Region 296..360 /region_name="UBA_AID_AAPK1" /note="UBA-like autoinhibitory domain (AID) found in vertebrate 5'-AMP-activated protein kinase catalytic subunit alpha-1 (AMPKalpha-1); cd14403" /db_xref="CDD:270586" Region 302..381 /region_name="AIS. /evidence=ECO:0000250|UniProtKB:Q13131" /note="propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 355 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 356 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 360 /site_type="phosphorylation" /note="Phosphoserine, by ULK1. /evidence=ECO:0000250|UniProtKB:P54645; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 368 /site_type="phosphorylation" /note="Phosphothreonine, by ULK1. /evidence=ECO:0000250|UniProtKB:P54645; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 382 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 397 /site_type="phosphorylation" /note="Phosphoserine, by ULK1. /evidence=ECO:0000250|UniProtKB:P54645; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Region 404..557 /region_name="AMPKA1_C" /note="C-terminal regulatory domain of 5'-AMP-activated protein kinase (AMPK) alpha 1 catalytic subunit; cd12199" /db_xref="CDD:213384" Site order(404..410,412,417,439..441,461..465,470,473..476,478, 543,546..548,550..551,555) /site_type="other" /note="beta subunit interface [polypeptide binding]" /db_xref="CDD:213384" Site order(404,449,451,541..542,544..545,548) /site_type="other" /note="gamma subunit interface [polypeptide binding]" /db_xref="CDD:213384" Site 467 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Region 485..536 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 486 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 488 /site_type="phosphorylation" /note="Phosphothreonine, by ULK1. /evidence=ECO:0000250|UniProtKB:P54645; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 490 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 496 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 508 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 524 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" Site 527 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13131; propagated from UniProtKB/Swiss-Prot (Q5EG47.2)" CDS 1..559 /gene="Prkaa1" /gene_synonym="AMPKalpha1; C130083N04Rik" /coded_by="NM_001013367.3:9..1688" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS49574.1" /db_xref="GeneID:105787" /db_xref="MGI:MGI:2145955" ORIGIN 1 mrrlsswrkm ataekqkhdg rvkighyilg dtlgvgtfgk vkvgkheltg hkvavkilnr 61 qkirsldvvg kirreiqnlk lfrhphiikl yqvistpsdi fmvmeyvsgg elfdyickng 121 rldekesrrl fqqilsgvdy chrhmvvhrd lkpenvllda hmnakiadfg lsnmmsdgef 181 lrtscgspny aapevisgrl yagpevdiws sgvilyallc gtlpfdddhv ptlfkkicdg 241 ifytpqylnp svisllkhml qvdpmkraai kdirehewfk qdlpkylfpe dpsysstmid 301 dealkevcek fecseeevls clynrnhqdp lavayhliid nrrimneakd fylatsppds 361 flddhhltrp hpervpflva etprarhtld elnpqkskhq gvrkakwhlg irsqsrpndi 421 maevcraikq ldyewkvvnp yylrvrrknp vtstfskmsl qlyqvdsrty lldfrsidde 481 iteaksgtat pqrsgsisny rscqrsdsda eaqgkpsdvs ltssvtslds spvdvaprpg 541 shtieffemc anlikilaq // LOCUS NP_001157104 764 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 1 [Mus musculus]. ACCESSION NP_001157104 VERSION NP_001157104.1 DBSOURCE REFSEQ: accession NM_001163632.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 764) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 764) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 764) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 764) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 764) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 764) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 764) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 764) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 764) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 764) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154796.2, AK134040.1, AK037740.1, AK081385.1, AC131975.28 and AW045567.1. Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011132.1, SRR7974084.10598.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..764 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..764 /product="DNA-binding protein SATB1 isoform 1" /note="DNA-binding protein Satb1" /calculated_mol_wt=85749 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 591..650 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 638 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 645..702 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(647..650,652,670,676,689,691..692,695..696,698..700, 702..703) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(648,651,692,695..696,699) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..764 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001163632.1:163..2457" /note="isoform 1 is encoded by transcript variant 4" /db_xref="CCDS:CCDS28876.1" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqqppp pppqpqpqpq agprlpprqp tvassaesde enrqktrprt kisvealgil 661 qsfiqdvgly pdeeaiqtls aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey 721 kdeellkdle esvqdknant lfsvkleeel svegstdvna dlkd // LOCUS NP_001368854 657 aa linear ROD 09-OCT-2023 DEFINITION broad substrate specificity ATP-binding cassette transporter ABCG2 [Mus musculus]. ACCESSION NP_001368854 XP_006506212 VERSION NP_001368854.1 DBSOURCE REFSEQ: accession NM_001381925.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 657) AUTHORS Notsu T, Kurata Y, Ninomiya H, Taufiq F, Komatsu K, Miake J, Sawano T, Tsuneto M, Shirayoshi Y and Hisatome I. TITLE Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells JOURNAL Hypertens Res 46 (10), 2368-2377 (2023) PUBMED 37592041 REMARK GeneRIF: Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells. REFERENCE 2 (residues 1 to 657) AUTHORS Harby SA, Khalil NA, El-Sayed NS, Thabet EH, Saleh SR and Fathelbab MH. TITLE Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine JOURNAL Naunyn Schmiedebergs Arch Pharmacol 396 (10), 2627-2636 (2023) PUBMED 37067582 REMARK GeneRIF: Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine. REFERENCE 3 (residues 1 to 657) AUTHORS Blanco-Paniagua E, Alvarez-Fernandez L, Rodriguez-Alonso A, Millan-Garcia A, Alvarez AI and Merino G. TITLE Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin JOURNAL Antimicrob Agents Chemother 67 (5), e0009523 (2023) PUBMED 37078871 REMARK GeneRIF: Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin. REFERENCE 4 (residues 1 to 657) AUTHORS Wu C, Xiao Y, Wu C, Xie D, Luo M, Yao D, Chen M and Lu D. TITLE Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha JOURNAL Xenobiotica 53 (3), 215-222 (2023) PUBMED 37039301 REMARK GeneRIF: Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha. REFERENCE 5 (residues 1 to 657) AUTHORS Alvarez-Fernandez L, Gomez-Gomez A, Haro N, Garcia-Lino AM, Alvarez AI, Pozo OJ and Merino G. TITLE ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites JOURNAL J Pineal Res 74 (2), e12849 (2023) PUBMED 36562106 REMARK GeneRIF: ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites. REFERENCE 6 (residues 1 to 657) AUTHORS Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF and Kornblum HI. TITLE A genetic analysis of neural progenitor differentiation JOURNAL Neuron 29 (2), 325-339 (2001) PUBMED 11239426 REFERENCE 7 (residues 1 to 657) AUTHORS Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH and Schinkel AH. TITLE Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan JOURNAL J Natl Cancer Inst 92 (20), 1651-1656 (2000) PUBMED 11036110 REFERENCE 8 (residues 1 to 657) AUTHORS Schriml LM and Dean M. TITLE Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus JOURNAL Genomics 64 (1), 24-31 (2000) PUBMED 10708515 REFERENCE 9 (residues 1 to 657) AUTHORS Allen JD, Brinkhuis RF, Wijnholds J and Schinkel AH. TITLE The mouse Bcrp1/Mxr/Abcp gene: amplification and overexpression in cell lines selected for resistance to topotecan, mitoxantrone, or doxorubicin JOURNAL Cancer Res 59 (17), 4237-4241 (1999) PUBMED 10485464 REFERENCE 10 (residues 1 to 657) AUTHORS Allikmets R, Schriml LM, Hutchinson A, Romano-Spica V and Dean M. TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance JOURNAL Cancer Res 58 (23), 5337-5339 (1998) PUBMED 9850061 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121855.3 and AC121859.2. On Apr 20, 2020 this sequence version replaced XP_006506212.1. Summary: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422591.516871.1, SRR7345562.2893332.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..657 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 27.82 cM" Protein 1..657 /product="broad substrate specificity ATP-binding cassette transporter ABCG2" /EC_number="7.6.2.2" /note="mitoxantrone resistance protein 1; ATP-binding cassette sub-family G member 2; breast cancer resistance protein 1 homolog; urate exporter; ATP-binding cassette, sub-family G (WHITE), member 2" /calculated_mol_wt=72891 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Region 46..651 /region_name="3a01204" /note="The Eye Pigment Precursor Transporter (EPP) Family protein; TIGR00955" /db_xref="CDD:273361" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 429..449 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 478..498 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 507..527 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 536..556 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 596 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 633..653 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" CDS 1..657 /gene="Abcg2" /gene_synonym="ABC15; ABCP; BCRP; Bcrp1; MXR; MXR1" /coded_by="NM_001381925.1:212..2185" /db_xref="GeneID:26357" /db_xref="MGI:MGI:1347061" ORIGIN 1 msssndhvlv pmsqrnnngl prmnsravrt laegdvlsfh hityrvkvks gflvrktvek 61 eilsdingim kpglnailgp tgggksslld vlaarkdpkg lsgdvlinga pqpahfkccs 121 gyvvqddvvm gtltvrenlq fsaalrlptt mknhekneri ntiikelgle kvadskvgtq 181 firgisgger krtsigmeli tdpsilflde pttgldssta navllllkrm skqgrtiifs 241 ihqprysifk lfdsltllas gklvfhgpaq kaleyfasag yhcepynnpa dffldvingd 301 ssavmlnree qdneanktee pskgekpvie nlsefyinsa iygetkaeld qlpgaqekkg 361 tsafkepvyv tsfchqlrwi arrsfknllg npqasvaqli vtvilgliig aiyfdlkyda 421 agmqnragvl fflttnqcfs svsavelfvv ekklfiheyi sgyyrvssyf fgkvmsdllp 481 mrflpsvift cilyfmlglk ktvdaffimm ftlimvayta ssmalaiatg qsvvsvatll 541 mtiafvfmml fsgllvnlrt igpwlswlqy fsiprygfta lqyneflgqe fcpgfnvtdn 601 stcvnsyaic tgneylinqg ielspwglwk nhvalacmii ifltiaylkl lflkkys // LOCUS NP_001349222 512 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 18 [Mus musculus]. ACCESSION NP_001349222 VERSION NP_001349222.1 DBSOURCE REFSEQ: accession NM_001362293.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 512) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 512) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 512) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 512) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 512) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 512) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 512) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 512) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 512) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 512) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..512 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..512 /product="CUGBP Elav-like family member 4 isoform 18" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=54533 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 378..>422 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..512 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362293.1:531..2069" /note="isoform 18 is encoded by transcript variant 24" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagrpeg cnlliyhlpq efgdaelmqm flpfgnviss kvfvdratnq 421 srhpvpsrcq apscqggqca isssarrlre lrqpgqrtdr hpgherlpdr heeaqgaaea 481 aqrrqspvls aggsvprgrp glaqgrmlng lh // LOCUS NP_084063 301 aa linear ROD 09-OCT-2023 DEFINITION NADH-cytochrome b5 reductase 3 [Mus musculus]. ACCESSION NP_084063 VERSION NP_084063.1 DBSOURCE REFSEQ: accession NM_029787.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 301) AUTHORS Sanchez-Mendoza LM, Perez-Sanchez C, Rodriguez-Lopez S, Lopez-Pedrera C, Calvo-Rubio M, de Cabo R, Buron MI, Gonzalez-Reyes JA and Villalba JM. TITLE Sex-specific metabolic adaptations in transgenic mice overexpressing cytochrome b5 reductase-3 JOURNAL Free Radic Biol Med 207, 144-160 (2023) PUBMED 37463636 REMARK GeneRIF: Sex-specific metabolic adaptations in transgenic mice overexpressing cytochrome b5 reductase-3. REFERENCE 2 (residues 1 to 301) AUTHORS Bueno M, Calyeca J, Khaliullin T, Miller MP, Alvarez D, Rosas L, Brands J, Baker C, Nasser A, Shulkowski S, Mathien A, Uzoukwu N, Sembrat J, Mays BG, Fiedler K, Hahn SA, Salvatore SR, Schopfer FJ, Rojas M, Sandner P, Straub AC and Mora AL. TITLE CYB5R3 in type II alveolar epithelial cells protects against lung fibrosis by suppressing TGF-beta1 signaling JOURNAL JCI Insight 8 (5), e161487 (2023) PUBMED 36749633 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 301) AUTHORS Watanabe H, Du W, Son J, Sui L, Asahara SI, Kurland IJ, Kuo T, Kitamoto T, Miyachi Y, de Cabo R and Accili D. TITLE Cyb5r3-based mechanism and reversal of secondary failure to sulfonylurea in diabetes JOURNAL Sci Transl Med 15 (681), eabq4126 (2023) PUBMED 36724243 REMARK GeneRIF: Cyb5r3-based mechanism and reversal of secondary failure to sulfonylurea in diabetes. REFERENCE 4 (residues 1 to 301) AUTHORS Ishimura R, El-Gowily AH, Noshiro D, Komatsu-Hirota S, Ono Y, Shindo M, Hatta T, Abe M, Uemura T, Lee-Okada HC, Mohamed TM, Yokomizo T, Ueno T, Sakimura K, Natsume T, Sorimachi H, Inada T, Waguri S, Noda NN and Komatsu M. TITLE The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3 JOURNAL Nat Commun 13 (1), 7857 (2022) PUBMED 36543799 REMARK GeneRIF: The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3. Publication Status: Online-Only REFERENCE 5 (residues 1 to 301) AUTHORS Yuan S, Hahn SA, Miller MP, Sanker S, Calderon MJ, Sullivan M, Dosunmu-Ogunbi AM, Fazzari M, Li Y, Reynolds M, Wood KC, St Croix CM, Stolz D, Cifuentes-Pagano E, Navas P, Shiva S, Schopfer FJ, Pagano PJ and Straub AC. TITLE Cooperation between CYB5R3 and NOX4 via coenzyme Q mitigates endothelial inflammation JOURNAL Redox Biol 47, 102166 (2021) PUBMED 34656824 REMARK GeneRIF: Cooperation between CYB5R3 and NOX4 via coenzyme Q mitigates endothelial inflammation. REFERENCE 6 (residues 1 to 301) AUTHORS Yoshida T and Tsuda H. TITLE Gene targeting of DT-diaphorase in mouse embryonic stem cells: establishment of null mutant and its mitomycin C-resistance JOURNAL Biochem Biophys Res Commun 214 (2), 701-708 (1995) PUBMED 7677784 REFERENCE 7 (residues 1 to 301) AUTHORS Hawkes R and Turner RW. TITLE Compartmentation of NADPH-diaphorase activity in the mouse cerebellar cortex JOURNAL J Comp Neurol 346 (4), 499-516 (1994) PUBMED 7527060 REFERENCE 8 (residues 1 to 301) AUTHORS Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS and Budarf M. TITLE Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse JOURNAL Hum Mol Genet 2 (8), 1245-1252 (1993) PUBMED 8401507 REFERENCE 9 (residues 1 to 301) AUTHORS Francke,U., Tetri,P., Taggart,R.T. and Oliver,N. TITLE Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22 JOURNAL Cytogenet Cell Genet 31 (2), 58-69 (1981) PUBMED 6118238 REFERENCE 10 (residues 1 to 301) AUTHORS Taggart,R.T., Tetri,P. and Francke,U. TITLE Assignment of the gene for NADH diaphorase Dia-1 to Mouse chromosome 15 JOURNAL Somatic Cell Genet 6 (6), 769-776 (1980) PUBMED 6893763 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC043074.1 and AI839369.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC004760.2, BC043074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..301 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 39.4 cM" Protein 1..301 /product="NADH-cytochrome b5 reductase 3" /EC_number="1.6.2.2" /note="diaphorase 1 (NADH)" /calculated_mol_wt=33997 Region <14..301 /region_name="PLN02252" /note="nitrate reductase [NADPH]" /db_xref="CDD:215141" Site 42 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753, ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (Q9DCN2.3)" Site 43 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:P00387; propagated from UniProtKB/Swiss-Prot (Q9DCN2.3)" Site 50 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (Q9DCN2.3)" Site 120 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:16916647; propagated from UniProtKB/Swiss-Prot (Q9DCN2.3)" CDS 1..301 /gene="Cyb5r3" /gene_synonym="0610016L08Rik; 2500002N19Rik; B5R; Dia-1; Dia1; WU:Cyb5r3" /coded_by="NM_029787.3:52..957" /db_xref="CCDS:CCDS27698.1" /db_xref="GeneID:109754" /db_xref="MGI:MGI:94893" ORIGIN 1 mgaqlstlsh vvlspvwfiy slfmklfqrs tpaitlenpd ikyplrlidk evispdtrrf 61 rfalpspqhi lglpigqhiy lstridgnlv irpytpvssd ddkgfvdlvv kvyfkdthpk 121 fpaggkmsqy lenmkigdti efrgpngllv yqgkgkfair adkksnpvvr tvksvgmiag 181 gtgitpmlqv iravlkdpnd htvcyllfan qsekdillrp eleelrnehs arfklwytvd 241 kapdawdysq gfvneemird hlptpgeepl ilmcgpppmi qfaclpnler vghpkercft 301 f // LOCUS NP_001281073 1168 aa linear ROD 09-OCT-2023 DEFINITION homeodomain-interacting protein kinase 2 isoform 4 [Mus musculus]. ACCESSION NP_001281073 XP_006505668 VERSION NP_001281073.1 DBSOURCE REFSEQ: accession NM_001294144.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1168) AUTHORS Wang G, Ma Z, Song C, Wang X and Zhou Z. TITLE miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis JOURNAL Cell Signal 111, 110840 (2023) PUBMED 37543099 REMARK GeneRIF: miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis. REFERENCE 2 (residues 1 to 1168) AUTHORS Zhong W, Hong C, Dong Y, Li Y, Xiao C and Liu X. TITLE ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells JOURNAL Genes (Basel) 13 (12), 2244 (2022) PUBMED 36553510 REMARK GeneRIF: ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1168) AUTHORS Zhou Q, Meng D, Li F, Zhang X, Liu L, Zhu Y, Liu S, Xu M, Deng J, Lei Z, Sluijter JPG and Xiao J. TITLE Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling JOURNAL EBioMedicine 85, 104274 (2022) PUBMED 36182775 REMARK GeneRIF: Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling. REFERENCE 4 (residues 1 to 1168) AUTHORS Cheung KL, Jaganathan A, Hu Y, Xu F, Lejeune A, Sharma R, Caescu CI, Meslamani J, Vincek A, Zhang F, Lee K, Zaware N, Qayum AA, Ren C, Kaplan MH, He JC, Xiong H and Zhou MM. TITLE HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation JOURNAL Proc Natl Acad Sci U S A 119 (14), e2117112119 (2022) PUBMED 35344430 REMARK GeneRIF: HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation. REFERENCE 5 (residues 1 to 1168) AUTHORS Yu Q, Liu L, Zhang X, Chang H, Ma S, Xie Z, Tang S, Ju X, Zhu H, Shen B and Zhang Q. TITLE MiR-221-3p targets HIPK2 to promote diabetic wound healing JOURNAL Microvasc Res 140, 104306 (2022) PUBMED 34973299 REMARK GeneRIF: MiR-221-3p targets HIPK2 to promote diabetic wound healing. REFERENCE 6 (residues 1 to 1168) AUTHORS Hofmann TG, Mincheva A, Lichter P, Droge W and Schmitz ML. TITLE Human homeodomain-interacting protein kinase-2 (HIPK2) is a member of the DYRK family of protein kinases and maps to chromosome 7q32-q34 JOURNAL Biochimie 82 (12), 1123-1127 (2000) PUBMED 11120354 REFERENCE 7 (residues 1 to 1168) AUTHORS Wang W, Link V and Green JM. TITLE Identification and cloning of a CD43-associated serine/threonine kinase JOURNAL Cell Immunol 205 (1), 34-39 (2000) PUBMED 11078605 REFERENCE 8 (residues 1 to 1168) AUTHORS Ebling FJ, Brooks AN, Cronin AS, Ford H and Kerr JB. TITLE Estrogenic induction of spermatogenesis in the hypogonadal mouse JOURNAL Endocrinology 141 (8), 2861-2869 (2000) PUBMED 10919273 REFERENCE 9 (residues 1 to 1168) AUTHORS Kim YH, Choi CY and Kim Y. TITLE Covalent modification of the homeodomain-interacting protein kinase 2 (HIPK2) by the ubiquitin-like protein SUMO-1 JOURNAL Proc Natl Acad Sci U S A 96 (22), 12350-12355 (1999) PUBMED 10535925 REFERENCE 10 (residues 1 to 1168) AUTHORS Kim YH, Choi CY, Lee SJ, Conti MA and Kim Y. TITLE Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors JOURNAL J Biol Chem 273 (40), 25875-25879 (1998) PUBMED 9748262 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154016.2, AC118613.8 and AC161147.6. On Jun 25, 2014 this sequence version replaced XP_006505668.1. Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the coding region compared to variant 2. The encoded isoform (4) is shorter than isoform 2. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784650.967530.1, SRR17784645.92735.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1168 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 17.85 cM" Protein 1..1168 /product="homeodomain-interacting protein kinase 2 isoform 4" /EC_number="2.7.11.1" /note="nuclear body-associated kinase 1; sialophorin tail-associated nuclear serine/threonine-protein kinase" /calculated_mol_wt=127417 Region 183..537 /region_name="STKc_HIPK2" /note="Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 2; cd14227" /db_xref="CDD:271129" Site order(205..209,213,226,228,242,261,277..280,283,285..286, 324,326,328..329,331,346,349,359,361..364,366,403) /site_type="active" /db_xref="CDD:271129" Site order(205..209,213,226,228,261,277..280,283,324,326, 328..329,331,346) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271129" Site order(242,285,324,326,349,359,361..364,366,403) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271129" Site 345..366 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271129" CDS 1..1168 /gene="Hipk2" /gene_synonym="1110014O20Rik; B230339E18Rik; Stank" /coded_by="NM_001294144.1:374..3880" /note="isoform 4 is encoded by transcript variant 4" /db_xref="CCDS:CCDS80526.1" /db_xref="GeneID:15258" /db_xref="MGI:MGI:1314872" ORIGIN 1 mapvyegmas hvqvfsphtl qssafcsvkk lkvepssnwd mtgygshskv ysqsknipps 61 qpasttvsts lpipnpslpy eqtiifpgst ghivvtsass tsvtgqvlgg phnlmrrstv 121 slldtyqkcg lkrkseeien tssvqiieeh ppmiqnnasg atvatattst atsknsgsns 181 egdyqlvqhe vlcsmtntye vleflgrgtf gqvvkcwkrg tneivaikil knhpsyarqg 241 qievsilarl stesaddynf vrayecfqhk nhtclvfeml eqnlydflkq nkfsplplky 301 irpvlqqvat almklkslgl ihadlkpeni mlvdpsrqpy rvkvidfgsa shvskavcst 361 ylqsryyrap eiilglpfce aidmwslgcv iaelflgwpl ypgaseydqi ryisqtqglp 421 aeyllsagtk ttrffnrdtd spyplwrlkt pddheaetgi kskearkyif nclddmaqvn 481 mttdlegsdm lvekadrref idllkkmlti dadkrvtpie tlnhpfvtmt hlldfphsah 541 vkscfqnmei ckrrvnmydt vnqsktpfit hvapststnl tmtfnnqltt vhnqpsaasm 601 aavaprsmpl qtgtaqicar pdpfqqaliv cppgfqglqa spskhagysv rmenavpivt 661 qapgaqplqi qpgllaqawp ggaqqillpp awqqltgvat htsvqhaavi petmagtqql 721 adwrnthahg shynpimqqp alltghvtlp aaqplnvgva hvmrqqptst tssrkskqhq 781 ssvrnvstce vtssqaissp qrskrvkent pprcamvhss pacstsvtcg wgdvassttr 841 erqrqtivip dtpsptvsvi tissdtdeee eqkhaptstv skqrknvisc vtvhdspysd 901 sssntspysv qqrtghngtn tldtkgglen hctgnprtii vpplktqase vlvecdslgp 961 aisashhsss fkskssstvt stsghssgss sgaiayrqqr pgphfqqqqp lnlsqaqqhm 1021 aadrtgshrr qqayitptma qapytfphns pshgtvhphl aaaahlptqp hlytytapta 1081 lgstgtvahl vasqgsarht vqhtaypasi vhqvpvsmgp rvlpsptihp sqypaqfahq 1141 tyisaspast vytgyplspa kvnqypyi // LOCUS NP_997563 196 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 1 [Mus musculus]. ACCESSION NP_997563 VERSION NP_997563.1 DBSOURCE REFSEQ: accession NM_207680.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 196) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 196) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 196) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 196) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 196) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 196) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 196) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 196) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 196) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 196) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK037885.1, AK082613.1, CB521709.1, CA321725.1, AA881651.1 and BE136124.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK082613.1, AK011490.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..196 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..196 /product="bcl-2-like protein 11 isoform 1" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=21936 Region 1..68 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54918.1)" Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Site 65 /site_type="phosphorylation" /note="Phosphoserine, by MAPK. /evidence=ECO:0000269|PubMed:21478148, ECO:0000269|PubMed:27013495; propagated from UniProtKB/Swiss-Prot (O54918.1)" Site 73 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O88498; propagated from UniProtKB/Swiss-Prot (O54918.1)" Site 83 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O88498; propagated from UniProtKB/Swiss-Prot (O54918.1)" Site 90 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O43521; propagated from UniProtKB/Swiss-Prot (O54918.1)" Region 129..164 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" Region 146..160 /region_name="BH3" /note="propagated from UniProtKB/Swiss-Prot (O54918.1)" CDS 1..196 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_207680.2:229..819" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS16713.1" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qgnpdgegdr cphgspqgpl 61 appaspgpfa trsplfifvr rssllsrsss gyfsfdtdrs papmscdkst qtpsppcqaf 121 nhylsamasi rqsqeepedl rpeiriaqel rrigdefnet ytrrvfandy reaedhpqmv 181 ilqllrfifr lvwrrh // LOCUS NP_076006 241 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor ligand superfamily member 13 isoform 1 [Mus musculus]. ACCESSION NP_076006 VERSION NP_076006.2 DBSOURCE REFSEQ: accession NM_023517.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 241) AUTHORS Doll JR, Moreno-Fernandez ME, Stankiewicz TE, Wayland JL, Wilburn A, Weinhaus B, Chougnet CA, Giordano D, Cappelletti M, Presicce P, Kallapur SG, Salomonis N, Tilburgs T and Divanovic S. TITLE BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth JOURNAL Cell Rep 42 (4), 112352 (2023) PUBMED 37027297 REMARK GeneRIF: BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth. REFERENCE 2 (residues 1 to 241) AUTHORS Sturm N, Roger-Margueritat M, Pierrel F, Lehours P, Genevay M and Huard B. TITLE Spatial heterogeneity for APRIL production by eosinophils in the small intestine JOURNAL J Leukoc Biol 113 (4), 376-382 (2023) PUBMED 36808499 REMARK GeneRIF: Spatial heterogeneity for APRIL production by eosinophils in the small intestine. REFERENCE 3 (residues 1 to 241) AUTHORS Tsiantoulas D, Eslami M, Obermayer G, Clement M, Smeets D, Mayer FJ, Kiss MG, Enders L, Weisser J, Goderle L, Lambert J, Frommlet F, Mueller A, Hendrikx T, Ozsvar-Kozma M, Porsch F, Willen L, Afonyushkin T, Murphy JE, Fogelstrand P, Donze O, Pasterkamp G, Hoke M, Kubicek S, Jorgensen HF, Danchin N, Simon T, Scharnagl H, Marz W, Boren J, Hess H, Mallat Z, Schneider P and Binder CJ. TITLE APRIL limits atherosclerosis by binding to heparan sulfate proteoglycans JOURNAL Nature 597 (7874), 92-96 (2021) PUBMED 34433968 REFERENCE 4 (residues 1 to 241) AUTHORS Chan CC, Harley ITW, Pfluger PT, Trompette A, Stankiewicz TE, Allen JL, Moreno-Fernandez ME, Damen MSMA, Oates JR, Alarcon PC, Doll JR, Flick MJ, Flick LM, Sanchez-Gurmaches J, Mukherjee R, Karns R, Helmrath M, Inge TH, Weisberg SP, Pamp SJ, Relman DA, Seeley RJ, Tschop MH, Karp CL and Divanovic S. TITLE A BAFF/APRIL axis regulates obesogenic diet-driven weight gain JOURNAL Nat Commun 12 (1), 2911 (2021) PUBMED 34006859 REMARK GeneRIF: A BAFF/APRIL axis regulates obesogenic diet-driven weight gain. Publication Status: Online-Only REFERENCE 5 (residues 1 to 241) AUTHORS Benet Z, Jing Z and Fooksman DR. TITLE Plasma cell dynamics in the bone marrow niche JOURNAL Cell Rep 34 (6), 108733 (2021) PUBMED 33567286 REFERENCE 6 (residues 1 to 241) AUTHORS Varfolomeev E, Kischkel F, Martin F, Seshasayee D, Wang H, Lawrence D, Olsson C, Tom L, Erickson S, French D, Schow P, Grewal IS and Ashkenazi A. TITLE APRIL-deficient mice have normal immune system development JOURNAL Mol Cell Biol 24 (3), 997-1006 (2004) PUBMED 14729948 REFERENCE 7 (residues 1 to 241) AUTHORS MacLennan I and Vinuesa C. TITLE Dendritic cells, BAFF, and APRIL: innate players in adaptive antibody responses JOURNAL Immunity 17 (3), 235-238 (2002) PUBMED 12354377 REMARK GeneRIF: Review. Dendritic cell-derived TNF-family ligand APRIL enhances plasmablast survival and differentiation to plasma cells. Review article REFERENCE 8 (residues 1 to 241) AUTHORS Stein JV, Lopez-Fraga M, Elustondo FA, Carvalho-Pinto CE, Rodriguez D, Gomez-Caro R, De Jong J, Martinez-A C, Medema JP and Hahne M. TITLE APRIL modulates B and T cell immunity JOURNAL J Clin Invest 109 (12), 1587-1598 (2002) PUBMED 12070306 REFERENCE 9 (residues 1 to 241) AUTHORS Locksley RM, Killeen N and Lenardo MJ. TITLE The TNF and TNF receptor superfamilies: integrating mammalian biology JOURNAL Cell 104 (4), 487-501 (2001) PUBMED 11239407 REMARK Review article REFERENCE 10 (residues 1 to 241) AUTHORS Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G and Theill LE. TITLE APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity JOURNAL Nat Immunol 1 (3), 252-256 (2000) PUBMED 10973284 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK009514.1, AK134028.1 and BY463961.1. On Oct 13, 2005 this sequence version replaced NP_076006.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK009514.1, BC069900.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..241 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 42.86 cM" Protein 1..241 /product="tumor necrosis factor ligand superfamily member 13 isoform 1" /note="a proliferation-inducing ligand; tumor necrosis factor ligand 7b" /calculated_mol_wt=26758 Site 95..96 /site_type="cleavage" /note="Cleavage, by furin. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9D777.1)" Region 108..239 /region_name="TNF" /note="Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal...; cd00184" /db_xref="CDD:238108" Site order(110,155,157,203,208,235,239) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:238108" Site 115 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9D777.1)" Site order(130..131,136,170,177,182) /site_type="active" /note="receptor binding sites [active]" /db_xref="CDD:238108" CDS 1..241 /gene="Tnfsf13" /gene_synonym="2310026N09Rik; April; Tall2; Tnlg7b; Trdl1" /coded_by="NM_023517.2:296..1021" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:69583" /db_xref="MGI:MGI:1916833" ORIGIN 1 mpasspghmg gsvrepalsv alwlswgavl gavtcavall iqqtelqslr revsrlqrsg 61 gpsqkqgerp wqslweqspd vleawkdgak srrrravltq khkkkhsvlh lvpvnitska 121 dsdvtevmwq pvlrrgrgle aqgdivrvwd tgiyllysqv lfhdvtftmg qvvsregqgr 181 retlfrcirs mpsdpdrayn scysagvfhl hqgdiitvki pranaklsls phgtflgfvk 241 l // LOCUS NP_001349254 476 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 43 [Mus musculus]. ACCESSION NP_001349254 XP_017173286 VERSION NP_001349254.1 DBSOURCE REFSEQ: accession NM_001362325.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 476) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 476) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 476) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 476) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 476) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 476) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 476) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 476) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 476) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 476) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173286.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.179136.1, SRR1660813.266419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..476 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..476 /product="CUGBP Elav-like family member 4 isoform 43" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50789 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 141..221 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(143,145,147..148,151,170,172,174,182..184,186,216, 218) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 407..465 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..476 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362325.1:531..1961" /note="isoform 43 is encoded by transcript variant 45" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrge drklfvgmln kqqseddvrr lfeafgniee ctilrgpdgn 181 skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr mqqmagqmgm 241 fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma alnmnglaaa 301 pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan gihpypaqsp 361 taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregpeg cnlliyhlpq 421 efgdaelmqm flpfgfvsfd npasaqtaiq amngfqigmk rlkvqlkrpk danrpy // LOCUS NP_001394528 384 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 12 [Mus musculus]. ACCESSION NP_001394528 XP_030110379 VERSION NP_001394528.1 DBSOURCE REFSEQ: accession NM_001407599.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 384) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 384) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 384) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 384) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 384) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 384) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 384) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 384) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 384) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 384) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_030110379.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.3294689.1, SRR17784646.337333.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..384 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..384 /product="mitogen-activated protein kinase 10 isoform 12" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=43736 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..384 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407599.1:658..1812" /note="isoform 12 is encoded by transcript variant 22" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdlws vgcimgemvk gtvlfpgtdh idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsa qvqq // LOCUS NP_035621 296 aa linear ROD 09-OCT-2023 DEFINITION stanniocalcin-2 precursor [Mus musculus]. ACCESSION NP_035621 VERSION NP_035621.1 DBSOURCE REFSEQ: accession NM_011491.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 296) AUTHORS Patil NY, Rus I and Joshi AD. TITLE Role of ERK1/2 Signaling in Cinnabarinic Acid-Driven Stanniocalcin 2-Mediated Protection against Alcohol-Induced Apoptosis JOURNAL J Pharmacol Exp Ther 387 (1), 111-120 (2023) PUBMED 37562971 REMARK GeneRIF: Role of ERK1/2 Signaling in Cinnabarinic Acid-Driven Stanniocalcin 2-Mediated Protection against Alcohol-Induced Apoptosis. REFERENCE 2 (residues 1 to 296) AUTHORS Lionikas A, Hernandez Cordero AI, Kilikevicius A, Carroll AM, Bewick GS, Bunger L, Ratkevicius A, Heisler LK, Harboe M and Oxvig C. TITLE Stanniocalcin-2 inhibits skeletal muscle growth and is upregulated in functional overload-induced hypertrophy JOURNAL Physiol Rep 11 (15), e15793 (2023) PUBMED 37568262 REMARK GeneRIF: Stanniocalcin-2 inhibits skeletal muscle growth and is upregulated in functional overload-induced hypertrophy. REFERENCE 3 (residues 1 to 296) AUTHORS Zhang L, He X, Xiong Y, Ran Q, Xiong A, Wang J, Wu D, Niu B and Li G. TITLE Transcriptome-wide profiling discover: PM2.5 aggravates airway dysfunction through epithelial barrier damage regulated by Stanniocalcin 2 in an OVA-induced model JOURNAL Ecotoxicol Environ Saf 220, 112408 (2021) PUBMED 34111662 REMARK GeneRIF: Transcriptome-wide profiling discover: PM2.5 aggravates airway dysfunction through epithelial barrier damage regulated by Stanniocalcin 2 in an OVA-induced model. REFERENCE 4 (residues 1 to 296) AUTHORS Jeon Y, Shin JE, Kwon M, Cho E, Cavalli V and Cho Y. TITLE In Vivo Gene Delivery of STC2 Promotes Axon Regeneration in Sciatic Nerves JOURNAL Mol Neurobiol 58 (2), 750-760 (2021) PUBMED 33011858 REMARK GeneRIF: In Vivo Gene Delivery of STC2 Promotes Axon Regeneration in Sciatic Nerves. REFERENCE 5 (residues 1 to 296) AUTHORS Hernandez Cordero AI, Gonzales NM, Parker CC, Sokolof G, Vandenbergh DJ, Cheng R, Abney M, Sko A, Douglas A, Palmer AA, Gregory JS and Lionikas A. TITLE Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2 JOURNAL Am J Hum Genet 105 (6), 1222-1236 (2019) PUBMED 31761296 REMARK Erratum:[Am J Hum Genet. 2020 Jan 2;106(1):138. PMID: 31901248] REFERENCE 6 (residues 1 to 296) AUTHORS Ito D, Walker JR, Thompson CS, Moroz I, Lin W, Veselits ML, Hakim AM, Fienberg AA and Thinakaran G. TITLE Characterization of stanniocalcin 2, a novel target of the mammalian unfolded protein response with cytoprotective properties JOURNAL Mol Cell Biol 24 (21), 9456-9469 (2004) PUBMED 15485913 REMARK GeneRIF: induced STC2 expression is an essential feature of survival component of the unfolded-protein response REFERENCE 7 (residues 1 to 296) AUTHORS Yadav N, Lee J, Kim J, Shen J, Hu MC, Aldaz CM and Bedford MT. TITLE Specific protein methylation defects and gene expression perturbations in coactivator-associated arginine methyltransferase 1-deficient mice JOURNAL Proc Natl Acad Sci U S A 100 (11), 6464-6468 (2003) PUBMED 12756295 REFERENCE 8 (residues 1 to 296) AUTHORS Moore EE, Kuestner RE, Conklin DC, Whitmore TE, Downey W, Buddle MM, Adams RL, Bell LA, Thompson DL, Wolf A, Chen L, Stamm MR, Grant FJ, Lok S, Ren H and De Jongh KS. TITLE Stanniocalcin 2: characterization of the protein and its localization to human pancreatic alpha cells JOURNAL Horm Metab Res 31 (7), 406-414 (1999) PUBMED 10450831 REFERENCE 9 (residues 1 to 296) AUTHORS Ishibashi K, Miyamoto K, Taketani Y, Morita K, Takeda E, Sasaki S and Imai M. TITLE Molecular cloning of a second human stanniocalcin homologue (STC2) JOURNAL Biochem Biophys Res Commun 250 (2), 252-258 (1998) PUBMED 9753616 REFERENCE 10 (residues 1 to 296) AUTHORS Chang AC and Reddel RR. TITLE Identification of a second stanniocalcin cDNA in mouse and human: stanniocalcin 2 JOURNAL Mol Cell Endocrinol 141 (1-2), 95-99 (1998) PUBMED 9723890 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF031035.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF031035.1, BC012206.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..296 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="11" /map="11 18.4 cM" Protein 1..296 /product="stanniocalcin-2 precursor" /calculated_mol_wt=30068 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2552 Region 12..213 /region_name="Stanniocalcin" /note="Stanniocalcin family; pfam03298" /db_xref="CDD:397405" Region 21..44 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O88452.1)" Site 73 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O88452.1)" Region 218..296 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O88452.1)" CDS 1..296 /gene="Stc2" /gene_synonym="mustc2; Stc-2; Stc2l" /coded_by="NM_011491.3:200..1090" /db_xref="CCDS:CCDS24512.1" /db_xref="GeneID:20856" /db_xref="MGI:MGI:1316731" ORIGIN 1 mcaerlgqfv tlalvfatld paqgtdstnp pegpqdrssq qkgrlslqnt aeiqhclvna 61 gdvgcgvfec fennsceiqg lhgicmtflh nagkfdaqgk sfikdalrck ahalrhkfgc 121 isrkcpaire mvfqlqrecy lkhdlcsaaq envgvivemi hfkdlllhep yvdlvnlllt 181 cgedvkeavt rsvqaqceqs wgglcsilsf ctsniqrppt aapehqplad raqlsrphhr 241 dtdhhltanr gakgergsks hpnahargrt ggqsaqgpsg ssewedeqse ysdirr // LOCUS NP_001344567 764 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 1 [Mus musculus]. ACCESSION NP_001344567 XP_017172853 VERSION NP_001344567.1 DBSOURCE REFSEQ: accession NM_001357638.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 764) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 764) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 764) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 764) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 764) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 764) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 764) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 764) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 764) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 764) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154796.2, AC131975.28 and AW045567.1. On Nov 4, 2017 this sequence version replaced XP_017172853.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.176553.1, SRR7974084.10601.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..764 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..764 /product="DNA-binding protein SATB1 isoform 1" /note="DNA-binding protein Satb1" /calculated_mol_wt=85749 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 591..650 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 638 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 645..702 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(647..650,652,670,676,689,691..692,695..696,698..700, 702..703) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(648,651,692,695..696,699) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..764 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001357638.1:463..2757" /note="isoform 1 is encoded by transcript variant 5" /db_xref="CCDS:CCDS28876.1" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqqppp pppqpqpqpq agprlpprqp tvassaesde enrqktrprt kisvealgil 661 qsfiqdvgly pdeeaiqtls aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey 721 kdeellkdle esvqdknant lfsvkleeel svegstdvna dlkd // LOCUS NP_001392986 140 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 2 [Mus musculus]. ACCESSION NP_001392986 VERSION NP_001392986.1 DBSOURCE REFSEQ: accession NM_001406057.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 140) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 140) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 140) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 140) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 140) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 140) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 140) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 140) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 140) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 140) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17253013.859364.1, SRR13422600.1774686.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..140 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..140 /product="bcl-2-like protein 11 isoform 2" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=16074 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 73..108 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..140 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001406057.1:221..643" /note="isoform 2 is encoded by transcript variant 6" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa masirqsqee pedlrpeiri aqelrrigde fnetytrrvf andyreaedh 121 pqmvilqllr fifrlvwrrh // LOCUS NP_067249 98 aa linear ROD 09-OCT-2023 DEFINITION C-X-C motif chemokine 10 precursor [Mus musculus]. ACCESSION NP_067249 XP_911349 XP_924823 XP_924830 VERSION NP_067249.1 DBSOURCE REFSEQ: accession NM_021274.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 98) AUTHORS Wang J, Peng Z, Guo J, Wang Y, Wang S, Jiang H, Wang M, Xie Y, Li X, Hu M, Xie Y, Cheng H, Li T, Jia L, Song J, Wang Y, Hou J and Liu Z. TITLE CXCL10 Recruitment of gammadelta T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression JOURNAL Cancer Immunol Res 11 (10), 1384-1399 (2023) PUBMED 37586075 REMARK GeneRIF: CXCL10 Recruitment of gammadelta T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression. REFERENCE 2 (residues 1 to 98) AUTHORS Zhou C, Shen Z, Shen B, Dai W, Sun Z, Guo Y, Xu X, Wang J, Lu J, Zhang Q, Luo X, Qu Y, Dong H and Lu L. TITLE FABP4 in LSECs promotes CXCL10-mediated macrophage recruitment and M1 polarization during NAFLD progression JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (7), 166810 (2023) PUBMED 37487374 REMARK GeneRIF: FABP4 in LSECs promotes CXCL10-mediated macrophage recruitment and M1 polarization during NAFLD progression. REFERENCE 3 (residues 1 to 98) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 4 (residues 1 to 98) AUTHORS Shi ZB, Hu Y, Ruan QQ, Fan M, Zhao M and Zhu LL. TITLE [Hypoxia promotes lipopolysaccharide-induced CXCL10 expression in microglia] JOURNAL Sheng Li Xue Bao 75 (2), 153-159 (2023) PUBMED 37089089 REMARK GeneRIF: [Hypoxia promotes lipopolysaccharide-induced CXCL10 expression in microglia]. REFERENCE 5 (residues 1 to 98) AUTHORS Coburn PS, Parrott AC, Miller FC, LaGrow AL, Mursalin MH and Callegan MC. TITLE The Role of C-X-C Chemokines in Staphylococcus aureus Endophthalmitis JOURNAL Invest Ophthalmol Vis Sci 64 (3), 10 (2023) PUBMED 36867134 REFERENCE 6 (residues 1 to 98) AUTHORS Smith JB and Herschman HR. TITLE Glucocorticoid-attenuated response genes encode intercellular mediators, including a new C-X-C chemokine JOURNAL J Biol Chem 270 (28), 16756-16765 (1995) PUBMED 7622488 REFERENCE 7 (residues 1 to 98) AUTHORS Gattass CR, King LB, Luster AD and Ashwell JD. TITLE Constitutive expression of interferon gamma-inducible protein 10 in lymphoid organs and inducible expression in T cells and thymocytes JOURNAL J Exp Med 179 (4), 1373-1378 (1994) PUBMED 8145049 REFERENCE 8 (residues 1 to 98) AUTHORS Narumi S, Wyner LM, Stoler MH, Tannenbaum CS and Hamilton TA. TITLE Tissue-specific expression of murine IP-10 mRNA following systemic treatment with interferon gamma JOURNAL J Leukoc Biol 52 (1), 27-33 (1992) PUBMED 1640172 REFERENCE 9 (residues 1 to 98) AUTHORS Vanguri P and Farber JM. TITLE Identification of CRG-2. An interferon-inducible mRNA predicted to encode a murine monokine JOURNAL J Biol Chem 265 (25), 15049-15057 (1990) PUBMED 2118520 REFERENCE 10 (residues 1 to 98) AUTHORS Ohmori Y and Hamilton TA. TITLE A macrophage LPS-inducible early gene encodes the murine homologue of IP-10 JOURNAL Biochem Biophys Res Commun 168 (3), 1261-1267 (1990) PUBMED 2189406 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY165450.1 and BC030067.1. On or before Dec 7, 2005 this sequence version replaced XP_924823.1, XP_924830.1, XP_911349.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC030067.1, AK146144.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..98 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 46.57 cM" Protein 1..98 /product="C-X-C motif chemokine 10 precursor" /note="C-X-C motif chemokine 10; gamma-IP10; small-inducible cytokine B10; interferon-gamma induced protein CRG-2; 10 kDa interferon gamma-induced protein; small inducible cytokine B subfamily (Cys-X-Cys), member 10; chemokine (C-X-C motif) ligand 10; interferon activated gene 10" /calculated_mol_wt=8701 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2106 mat_peptide 22..98 /product="C-X-C motif chemokine 10. /id=PRO_0000005104" /note="propagated from UniProtKB/Swiss-Prot (P17515.1)" /calculated_mol_wt=8701 Region 27..88 /region_name="Chemokine_CXC" /note="1 of 4 subgroup designations based on the arrangement of the two N-terminal cysteine residues; includes a number of secreted growth factors and interferons involved in mitogenic, chemotactic, and inflammatory activity; many members contain an RCxC motif...; cd00273" /db_xref="CDD:238171" Site order(27..29,35,40..45,54..56,66..67,71..73,79,84) /site_type="active" /note="receptor binding site [active]" /db_xref="CDD:238171" Site 27..29 /site_type="active" /note="ELR motif [active]" /db_xref="CDD:238171" Site order(28,31,45..46,49..51,61..64,66,71..72,75,82,86) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:238171" Site order(28,31,49,51,61,63,66,71..72) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:238171" Site order(29..30,32) /site_type="active" /note="RCXC motif [active]" /db_xref="CDD:238171" Site order(31..37,40..45) /site_type="active" /note="N-loop [active]" /db_xref="CDD:238171" Site order(33..34,36,40,44,63,66,71,73) /site_type="active" /note="receptor binding cleft [active]" /db_xref="CDD:238171" Site order(41,43,78,81,83..86,88) /site_type="other" /note="glycosaminoglycan (GAG) binding site [chemical binding]" /db_xref="CDD:238171" Site order(43,46,65,67,71..72) /site_type="other" /note="putative glycosaminoglycan (GAG) binding site [chemical binding]" /db_xref="CDD:238171" Site order(45..46,50,62,64,75,82,86) /site_type="other" /note="dimer interface (I form) [polypeptide binding]" /db_xref="CDD:238171" Site 54..56 /site_type="other" /note="30s-loop" /db_xref="CDD:238171" Site 54..56 /site_type="other" /note="GPH motif" /db_xref="CDD:238171" Site 67..69 /site_type="other" /note="40s-loop" /db_xref="CDD:238171" CDS 1..98 /gene="Cxcl10" /gene_synonym="C7; CRG-2; gIP-10; Ifi10; INP10; IP-10; IP10; mob-1; Scyb10" /coded_by="NM_021274.2:76..372" /db_xref="CCDS:CCDS39153.1" /db_xref="GeneID:15945" /db_xref="MGI:MGI:1352450" ORIGIN 1 mnpsaavifc lillglsgtq giplartvrc ncihiddgpv rmraigklei ipaslscprv 61 eiiatmkknd eqrclnpesk tiknlmkafs qkrskrap // LOCUS NP_001409070 824 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 4 [Mus musculus]. ACCESSION NP_001409070 XP_036013089 VERSION NP_001409070.1 DBSOURCE REFSEQ: accession NM_001422141.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 824) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 824) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 824) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 824) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 824) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 824) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 824) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 824) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 824) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 824) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Jun 6, 2023 this sequence version replaced XP_036013089.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.253033.1, SRR17253014.4874676.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..824 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..824 /product="hypoxia-inducible factor 1-alpha isoform 4" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=92126 Region 1..71 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(6..7,9..11,14..15,17..18,43..44) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Site order(20..21,23..24,27..28,31..32,43..45,48..49,52,55..56, 59) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 81..136 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 242..327 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(243,247,253,266..269,295,300) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(263,267,275,278..279,307,309) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 552..581 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:431874" Region 787..823 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:430212" CDS 1..824 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_001422141.1:89..2563" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 msserrkeks rdaarsrrsk esevfyelah qlplphnvss hldkasvmrl tisylrvrkl 61 ldaggldsed emkaqmdcfy lkaldgfvmv ltddgdmvyi sdnvnkymgl tqfeltghsv 121 fdfthpcdhe emremlthrn gpvrkgkeln tqrsfflrmk ctltsrgrtm niksatwkvl 181 hctghihvyd tnsnqpqcgy kkppmtclvl icepiphpsn ieipldsktf lsrhsldmkf 241 sycderitel mgyepeellg rsiyeyyhal dsdhltkthh dmftkgqvtt gqyrmlakrg 301 gyvwvetqat viyntknsqp qcivcvnyvv sgiiqhdlif slqqtesvlk pvessdmkmt 361 qlftkvesed tsclfdklkk epdaltllap aagdtiisld fgsddteted qqledvplyn 421 dvmfpssnek lninlamspl pssetpkplr ssadpalnqe valklesspe slglsftmpq 481 iqdqpaspsd gstrqssper llqenvntpn fsqpnspsey cfdvdsdmvn vfklelvekl 541 faedteaknp fstqdtdldl emlapyipmd ddfqlrsfdq lsplesnsps ppsmstvtgf 601 qqtqlqkpti tatatttatt desktetkdn kedikilias psstqvpqet ttakasaysg 661 thsrtaspdr agkrvieqtd kahprslnls atlnqrntvp eeelnpktia sqnaqrkrkm 721 ehdgslfqaa gigtllqqpg dcaptmslsw krvkgfisse qngteqktii lipsdlacrl 781 lgqsmdesgl pqltsydcev napiqgsrnl lqgeellral dqvn // LOCUS NP_001342696 544 aa linear ROD 09-OCT-2023 DEFINITION solute carrier family 22 member 2 isoform 2 [Mus musculus]. ACCESSION NP_001342696 XP_011244498 VERSION NP_001342696.1 DBSOURCE REFSEQ: accession NM_001355767.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 544) AUTHORS Orrico-Sanchez A, Guiard BP, Manta S, Callebert J, Launay JM, Louis F, Paccard A, Gruszczynski C, Betancur C, Vialou V and Gautron S. TITLE Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain JOURNAL Transl Psychiatry 13 (1), 302 (2023) PUBMED 37775532 REMARK GeneRIF: Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain. Publication Status: Online-Only REFERENCE 2 (residues 1 to 544) AUTHORS Hucke A, Schroter R, Ceresa C, Chiorazzi A, Canta A, Semperboni S, Marmiroli P, Cavaletti G, Gess B and Ciarimboli G. TITLE Role of Mouse Organic Cation Transporter 2 for Nephro- and Peripheral Neurotoxicity Induced by Chemotherapeutic Treatment with Cisplatin JOURNAL Int J Mol Sci 24 (14), 11486 (2023) PUBMED 37511245 REMARK GeneRIF: Role of Mouse Organic Cation Transporter 2 for Nephro- and Peripheral Neurotoxicity Induced by Chemotherapeutic Treatment with Cisplatin. Publication Status: Online-Only REFERENCE 3 (residues 1 to 544) AUTHORS La Manno G, Siletti K, Furlan A, Gyllborg D, Vinsland E, Mossi Albiach A, Mattsson Langseth C, Khven I, Lederer AR, Dratva LM, Johnsson A, Nilsson M, Lonnerberg P and Linnarsson S. TITLE Molecular architecture of the developing mouse brain JOURNAL Nature 596 (7870), 92-96 (2021) PUBMED 34321664 REFERENCE 4 (residues 1 to 544) AUTHORS Martinez ME and Hernandez A. TITLE The Type 3 Deiodinase Is a Critical Modulator of Thyroid Hormone Sensitivity in the Fetal Brain JOURNAL Front Neurosci 15, 703730 (2021) PUBMED 34248495 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 544) AUTHORS Morse BL, Chen LH, Catlow JT, Fallon JK, Smith PC and Hillgren KM. TITLE Expansion of Knowledge on OCT1 Variant Activity In Vitro and In Vivo Using Oct1/2-/- Mice JOURNAL Front Pharmacol 12, 631793 (2021) PUBMED 33658943 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 544) AUTHORS Sleutels F, Zwart R and Barlow DP. TITLE The non-coding Air RNA is required for silencing autosomal imprinted genes JOURNAL Nature 415 (6873), 810-813 (2002) PUBMED 11845212 REMARK GeneRIF: Slc22a2 is one of three imprinted genes on chromosome 17 that is expressed from the maternal allele. A non-coding Air RNA is required for repression of all three genes on the paternal allele. REFERENCE 7 (residues 1 to 544) AUTHORS Vallette-Kasic S, Pellegrini-Bouiller I, Sampieri F, Gunz G, Diaz A, Radovick S, Enjalbert A and Brue T. TITLE Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates JOURNAL Mol Endocrinol 15 (3), 411-420 (2001) PUBMED 11222742 REFERENCE 8 (residues 1 to 544) AUTHORS Mooslehner KA and Allen ND. TITLE Cloning of the mouse organic cation transporter 2 gene, Slc22a2, from an enhancer-trap transgene integration locus JOURNAL Mamm Genome 10 (3), 218-224 (1999) PUBMED 10051314 REFERENCE 9 (residues 1 to 544) AUTHORS Verhaagh S, Schweifer N, Barlow DP and Zwart R. TITLE Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27 JOURNAL Genomics 55 (2), 209-218 (1999) PUBMED 9933568 REFERENCE 10 (residues 1 to 544) AUTHORS Koehler MR, Wissinger B, Gorboulev V, Koepsell H and Schmid M. TITLE The two human organic cation transporter genes SLC22A1 and SLC22A2 are located on chromosome 6q26 JOURNAL Cytogenet Cell Genet 79 (3-4), 198-200 (1997) PUBMED 9605850 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC167817.4, AK143892.1 and AK052658.1. On Sep 27, 2017 this sequence version replaced XP_011244498.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK052658.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## imprinted gene :: PMID: 11845212 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..544 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 8.61 cM" Protein 1..544 /product="solute carrier family 22 member 2 isoform 2" /note="organic cation transporter 2; solute carrier family 22 member 2" /calculated_mol_wt=60413 Region 12..525 /region_name="2A0119" /note="cation transport protein; TIGR00898" /db_xref="CDD:273328" Site 22..42 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 71 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 151..171 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 178..198 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 211..231 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 264..284 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Region 284..288 /region_name="Proline-rich sequence. /evidence=ECO:0000250|UniProtKB:O15244" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 349..369 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 376..396 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 405..425 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 433..453 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 451 /site_type="other" /note="Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations. /evidence=ECO:0000250|UniProtKB:Q9R0W2; propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 465..485 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" Site 495..515 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O70577.1)" CDS 1..544 /gene="Slc22a2" /gene_synonym="mOCT2; Oct2; Orct2" /coded_by="NM_001355767.1:93..1727" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS88992.1" /db_xref="GeneID:20518" /db_xref="MGI:MGI:1335072" ORIGIN 1 mptvddileh igefhlfqkq tffllallsg aftpiyvgiv flgftpnhhc rspgvaelsq 61 rcgwspaeel nytvpglgsa gevsflsqcm ryevdwnqst ldcvdplssl aanrshlpls 121 pcehgwvydt pgssivtefn lvcahswmld lfqslvnvgf figavgigyl adrfgrkfcl 181 lvtilinais gvlmaispny awmlvfrflq glvskagwli gyilitefvg lgyrrtvgic 241 yqiaftvgll ilagvayalp nwrwlqfavt lpnfcfllyf wcipesprwl isqnknakam 301 kiikhiakkn gksvpvslqs ltadedtgmk lnpsfldlvr tpqirkhtli lmynwftssv 361 lyqglimhmg lagdniyldf fysalvefpa afiiiltidr igrrypwavs nmvagaacla 421 svfipddlqw lkitvaclgr mgitiayemv clvnaelypt yirnlavlvc ssmcdiggiv 481 tpflvyrltd iwlefplvvf avvglvaggl vlllpetkgk alpetiedae kmqslgrlvq 541 tvch // LOCUS NP_031557 299 aa linear ROD 09-OCT-2023 DEFINITION prohibitin-2 [Mus musculus]. ACCESSION NP_031557 VERSION NP_031557.2 DBSOURCE REFSEQ: accession NM_007531.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 299) AUTHORS Yang M, Abudureyimu M, Wang X, Zhou Y, Zhang Y and Ren J. TITLE PHB2 ameliorates Doxorubicin-induced cardiomyopathy through interaction with NDUFV2 and restoration of mitochondrial complex I function JOURNAL Redox Biol 65, 102812 (2023) PUBMED 37451140 REFERENCE 2 (residues 1 to 299) AUTHORS Cai C, Li Z, Zheng Z, Guo Z, Li Q, Deng S, Shi N, Ou Q, Zhou H, Guo Z, Chen Z and Zhu H. TITLE Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response JOURNAL Int J Biol Sci 19 (14), 4657-4671 (2023) PUBMED 37781037 REMARK GeneRIF: Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response. Publication Status: Online-Only REFERENCE 3 (residues 1 to 299) AUTHORS Jia Y, Mao C, Ma Z, Huang J, Li W, Ma X, Zhang S, Li M, Yu F, Sun Y, Chen J, Feng J, Zhou Y, Xu Q, Zhao L, Fu Y and Kong W. TITLE PHB2 Maintains the Contractile Phenotype of VSMCs by Counteracting PKM2 Splicing JOURNAL Circ Res 131 (10), 807-824 (2022) PUBMED 36200440 REMARK GeneRIF: PHB2 Maintains the Contractile Phenotype of VSMCs by Counteracting PKM2 Splicing. REFERENCE 4 (residues 1 to 299) AUTHORS Li L, Krznar P, Erban A, Agazzi A, Martin-Levilain J, Supale S, Kopka J, Zamboni N and Maechler P. TITLE Metabolomics Identifies a Biomarker Revealing In Vivo Loss of Functional beta-Cell Mass Before Diabetes Onset JOURNAL Diabetes 68 (12), 2272-2286 (2019) PUBMED 31537525 REFERENCE 5 (residues 1 to 299) AUTHORS Li L, Martin-Levilain J, Jimenez-Sanchez C, Karaca M, Foti M, Martinou JC and Maechler P. TITLE In vivo stabilization of OPA1 in hepatocytes potentiates mitochondrial respiration and gluconeogenesis in a prohibitin-dependent way JOURNAL J Biol Chem 294 (34), 12581-12598 (2019) PUBMED 31285263 REFERENCE 6 (residues 1 to 299) AUTHORS Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA and Martinou JC. TITLE Proteomic analysis of the mouse liver mitochondrial inner membrane JOURNAL J Biol Chem 278 (42), 41566-41571 (2003) PUBMED 12865426 REFERENCE 7 (residues 1 to 299) AUTHORS Coates PJ, Nenutil R, McGregor A, Picksley SM, Crouch DH, Hall PA and Wright EG. TITLE Mammalian prohibitin proteins respond to mitochondrial stress and decrease during cellular senescence JOURNAL Exp Cell Res 265 (2), 262-273 (2001) PUBMED 11302691 REFERENCE 8 (residues 1 to 299) AUTHORS Chu CC and Paul WE. TITLE Expressed genes in interleukin-4 treated B cells identified by cDNA representational difference analysis JOURNAL Mol Immunol 35 (8), 487-502 (1998) PUBMED 9798653 REFERENCE 9 (residues 1 to 299) AUTHORS Ansari-Lari MA, Oeltjen JC, Schwartz S, Zhang Z, Muzny DM, Lu J, Gorrell JH, Chinault AC, Belmont JW, Miller W and Gibbs RA. TITLE Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6 JOURNAL Genome Res 8 (1), 29-40 (1998) PUBMED 9445485 REFERENCE 10 (residues 1 to 299) AUTHORS Terashima M, Kim KM, Adachi T, Nielsen PJ, Reth M, Kohler G and Lamers MC. TITLE The IgM antigen receptor of B lymphocytes is associated with prohibitin and a prohibitin-related protein JOURNAL EMBO J 13 (16), 3782-3792 (1994) PUBMED 8070406 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB595613.1, AK132058.1, AK152375.1 and AK002334.1. On Mar 8, 2007 this sequence version replaced NP_031557.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK151952.1, AK132058.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..299 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 59.17 cM" Protein 1..299 /product="prohibitin-2" /note="repressor of estrogen receptor activity; B-cell receptor-associated protein BAP37; B-cell receptor-associated protein 37" /calculated_mol_wt=33165 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:Q99623; propagated from UniProtKB/Swiss-Prot (O35129.1)" Region 19..49 /region_name="Necessary for transcriptional repression. /evidence=ECO:0000250|UniProtKB:Q99623" /note="propagated from UniProtKB/Swiss-Prot (O35129.1)" Region 40..235 /region_name="SPFH_prohibitin" /note="Prohibitin family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily; cd03401" /db_xref="CDD:259799" Site 128 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q99623; propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 147 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (O35129.1)" Region 150..174 /region_name="Necessary for transcriptional repression. /evidence=ECO:0000250|UniProtKB:Q99623" /note="propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 151 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q99623; propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 200 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 236 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 250 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q99623; propagated from UniProtKB/Swiss-Prot (O35129.1)" Site 262 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (O35129.1)" CDS 1..299 /gene="Phb2" /gene_synonym="BAP; Bap37; Bcap37; REA" /coded_by="NM_007531.2:149..1048" /db_xref="CCDS:CCDS39627.1" /db_xref="GeneID:12034" /db_xref="MGI:MGI:102520" ORIGIN 1 maqnlkdlag rlpagprgmg talklllgag avaygvresv ftvegghrai ffnriggvqq 61 dtilaeglhf ripwfqypii ydirarprki ssptgskdlq mvnislrvls rpnaqelpsm 121 yqrlgldyee rvlpsivnev lksvvakfna sqlitqraqv sllirrelte rakdfslild 181 dvaitelsfs reytaaveak qvaqqeaqra qflvekakqe qrqkivqaeg eaeaakmlge 241 alsknpgyik lrkiraaqni sktiatsqnr iyltadnlvl nlqdesftrg sdslikgkk // LOCUS NP_079874 115 aa linear ROD 09-OCT-2023 DEFINITION pancreatic progenitor cell differentiation and proliferation factor isoform a [Mus musculus]. ACCESSION NP_079874 VERSION NP_079874.1 DBSOURCE REFSEQ: accession NM_025598.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 115) AUTHORS Wang YK, Ma N, Xu S, Huang JY, Ni QZ, Cao HJ, Zheng QW, Zhu B, Xia J, Zhang FK, Ding XF, Qiu XS, Chen TW, Wang K, Chen W, Li ZG, Cheng SQ, Xie D and Li JJ. TITLE PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1 JOURNAL Cell Rep 42 (4), 112340 (2023) PUBMED 37027301 REMARK GeneRIF: PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1. REFERENCE 2 (residues 1 to 115) AUTHORS Ni QZ, Zhu B, Ji Y, Zheng QW, Liang X, Ma N, Jiang H, Zhang FK, Shang YR, Wang YK, Xu S, Zhang EB, Yuan YM, Chen TW, Yin FF, Cao HJ, Huang JY, Xia J, Ding XF, Qiu XS, Ding K, Song C, Zhou WT, Wu M, Wang K, Lui R, Lin Q, Chen W, Li ZG, Cheng SQ, Wang XF, Xie D and Li JJ. TITLE PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1 JOURNAL Adv Sci (Weinh) 10 (2), e2202448 (2023) PUBMED 36453576 REMARK GeneRIF: PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1. REFERENCE 3 (residues 1 to 115) AUTHORS Zheng QW, Ni QZ, Zhu B, Liang X, Ma N, Wang YK, Xu S, Cao HJ, Xia J, Zhang FK, Zhang EB, Qiu XS, Ding XF, Qiu L, Zhang XL, Dong ZH, Li ZG, Zhang XL, Xie D and Li JJ. TITLE PPDPF promotes lung adenocarcinoma progression via inhibiting apoptosis and NK cell-mediated cytotoxicity through STAT3 JOURNAL Oncogene 41 (36), 4244-4256 (2022) PUBMED 35906391 REMARK Erratum:[Oncogene. 2023 Aug;42(35):2655-2656. PMID: 37491607] REFERENCE 4 (residues 1 to 115) AUTHORS Ma N, Wang YK, Xu S, Ni QZ, Zheng QW, Zhu B, Cao HJ, Jiang H, Zhang FK, Yuan YM, Zhang EB, Chen TW, Xia J, Ding XF, Chen ZH, Zhang XP, Wang K, Cheng SQ, Qiu L, Li ZG, Yu YC, Wang XF, Zhou B, Li JJ and Xie D. TITLE PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling JOURNAL Nat Commun 12 (1), 3059 (2021) PUBMED 34031390 REMARK GeneRIF: PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling. Publication Status: Online-Only REFERENCE 5 (residues 1 to 115) AUTHORS Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray SA. CONSRTM International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center TITLE High-throughput discovery of novel developmental phenotypes JOURNAL Nature 537 (7621), 508-514 (2016) PUBMED 27626380 REMARK Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450] REFERENCE 6 (residues 1 to 115) AUTHORS Lewandowski JP, Du F, Zhang S, Powell MB, Falkenstein KN, Ji H and Vokes SA. TITLE Spatiotemporal regulation of GLI target genes in the mammalian limb bud JOURNAL Dev Biol 406 (1), 92-103 (2015) PUBMED 26238476 REFERENCE 7 (residues 1 to 115) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL450341.10 and BC058516.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK003282.1, AK154758.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..115 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 103.62 cM" Protein 1..115 /product="pancreatic progenitor cell differentiation and proliferation factor isoform a" /note="exocrine differentiation and proliferation factor" /calculated_mol_wt=12129 Region 1..111 /region_name="PPDFL" /note="Differentiation and proliferation regulator; pfam15060" /db_xref="CDD:434428" Site 9 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H3Y8; propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" Region 21..46 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" Region 73..115 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" CDS 1..115 /gene="Ppdpf" /gene_synonym="0610012G23Rik; 2610317A05Rik; 2700038C09Rik; 3110053G12Rik" /coded_by="NM_025598.3:341..688" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS17202.1" /db_xref="GeneID:66496" /db_xref="MGI:MGI:1913746" ORIGIN 1 maaipssgsl vathdyyrrr lgsssssssg gsaeypgdav lqspglpkad pghwwasfff 61 gkstlpfmtt vlespersae spqvsrspmt cgltpetmkq qpvihsgqtn prdls // LOCUS NP_032630 750 aa linear ROD 09-OCT-2023 DEFINITION neprilysin [Mus musculus]. ACCESSION NP_032630 VERSION NP_032630.2 DBSOURCE REFSEQ: accession NM_008604.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 750) AUTHORS Esser N, Mongovin SM, Mundinger TO, Barrow BM and Zraika S. TITLE Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice JOURNAL Peptides 168, 171076 (2023) PUBMED 37572792 REMARK GeneRIF: Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice. REFERENCE 2 (residues 1 to 750) AUTHORS Esser N, Mundinger TO, Barrow BM and Zraika S. TITLE Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice JOURNAL Endocrinology 164 (5) (2023) PUBMED 36964914 REMARK GeneRIF: Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice. REFERENCE 3 (residues 1 to 750) AUTHORS Ortiz C, Klein S, Reul WH, Magdaleno F, Groschl S, Dietrich P, Schierwagen R, Uschner FE, Torres S, Hieber C, Meier C, Kraus N, Tyc O, Brol M, Zeuzem S, Welsch C, Poglitsch M, Hellerbrand C, Alfonso-Prieto M, Mira F, Keller UAD, Tetzner A, Moore A, Walther T and Trebicka J. TITLE Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1 JOURNAL Cell Rep 42 (2), 112059 (2023) PUBMED 36729833 REMARK GeneRIF: Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1. REFERENCE 4 (residues 1 to 750) AUTHORS Chen Y and Burnett JC Jr. TITLE Biochemistry, Therapeutics, and Biomarker Implications of Neprilysin in Cardiorenal Disease JOURNAL Clin Chem 63 (1), 108-115 (2017) PUBMED 28062615 REMARK Review article REFERENCE 5 (residues 1 to 750) AUTHORS Bayes-Genis A, Barallat J and Richards AM. TITLE A Test in Context: Neprilysin: Function, Inhibition, and Biomarker JOURNAL J Am Coll Cardiol 68 (6), 639-653 (2016) PUBMED 27491909 REMARK Review article REFERENCE 6 (residues 1 to 750) AUTHORS Turner AJ and Nalivaeva NN. TITLE Proteinase dysbalance in pathology: the neprilysin (NEP) and angiotensin-converting enzyme (ACE) families JOURNAL Cell Mol Biol (Noisy-le-grand) 52 (4), 40-48 (2006) PUBMED 17543197 REMARK Review article Publication Status: Online-Only REFERENCE 7 (residues 1 to 750) AUTHORS Weil M, Itin A and Keshet E. TITLE A role for mesenchyme-derived tachykinins in tooth and mammary gland morphogenesis JOURNAL Development 121 (8), 2419-2428 (1995) PUBMED 7545574 REFERENCE 8 (residues 1 to 750) AUTHORS Kalled SL, Siva N, Stein H and Reinherz EL. TITLE The distribution of CD10 (NEP 24.11, CALLA) in humans and mice is similar in non-lymphoid organs but differs within the hematopoietic system: absence on murine T and B lymphoid progenitors JOURNAL Eur J Immunol 25 (3), 677-687 (1995) PUBMED 7705396 REFERENCE 9 (residues 1 to 750) AUTHORS Watson ML, Rao JK, Gilkeson GS, Ruiz P, Eicher EM, Pisetsky DS, Matsuzawa A, Rochelle JM and Seldin MF. TITLE Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci JOURNAL J Exp Med 176 (6), 1645-1656 (1992) PUBMED 1460423 REFERENCE 10 (residues 1 to 750) AUTHORS Chen CY, Salles G, Seldin MF, Kister AE, Reinherz EL and Shipp MA. TITLE Murine common acute lymphoblastic leukemia antigen (CD10 neutral endopeptidase 24.11). Molecular characterization, chromosomal localization, and modeling of the active site JOURNAL J Immunol 148 (9), 2817-2825 (1992) PUBMED 1374101 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK031446.1 and AC121840.3. On Jun 9, 2003 this sequence version replaced NP_032630.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK031446.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164137, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..750 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 29.97 cM" Protein 1..750 /product="neprilysin" /EC_number="3.4.24.11" /note="common acute lymphoblastic leukemia antigen; enkephalinase; atriopeptidase; neutral endopeptidase 24.11; skin fibroblast elastase" /calculated_mol_wt=85571 Site 4 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 6 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 16..23 /region_name="Stop-transfer sequence. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 29..51 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 77..748 /region_name="M13" /note="Peptidase family M13 includes neprilysin and endothelin-converting enzyme I; cd08662" /db_xref="CDD:341056" Site order(107,537,542..545,564,580..581,584..585,588,647,690, 693..694,711..712,718) /site_type="active" /db_xref="CDD:341056" Site 145 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 211 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 285 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 325 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 628 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" CDS 1..750 /gene="Mme" /gene_synonym="6030454K05Rik; CALLA; CD10; NEP; SFE" /coded_by="NM_008604.4:89..2341" /db_xref="CCDS:CCDS17381.1" /db_xref="GeneID:17380" /db_xref="MGI:MGI:97004" ORIGIN 1 mgrsesqmdi tdinapkpkk kqrwtpleis lsvlvlllti iavtmialya tyddgickss 61 dciksaarli qnmdasvepc tdffkyacgg wlkrnvipet ssrysnfdil rdelevilkd 121 vlqepktedi vavqkaktly rscinesaid srggqpllkl lpdiygwpva sdnwdqtygt 181 swtaeksiaq lnskygkkvl inffvgtddk nstqhiihfd qprlglpsrd yyectgiyke 241 actayvdfmi svarlirqeq slpidenqls lemnkvmele keianattkp edrndpmlly 301 nkmtlaklqn nfslevngks fswsnftnei mstvniniqn eeevvvyape yltklkpilt 361 kysprdlqnl mswrfimdlv sslsrnykes rnafrkalyg ttsetatwrr canyvngnme 421 navgrlyvea afageskhvv edliaqirev fiqtlddltw mdaetkkkae ekalaikeri 481 gypddiisne nklnneylel nyredeyfen iiqnlkfsqs kqlkklrekv dkdewisgaa 541 vvnafyssgr nqivfpagil qppffsaqqs nslnyggigm vigheithgf ddngrnfnkd 601 gdlvdwwtqq sannfkdqsq cmvyqygnfs wdlaggqhln gintlgenia dnggigqayr 661 ayqnyvkkng eekllpgldl nhkqlfflnf aqvwcgtyrp eyavnsiktd vhspgnfrii 721 gtlqnsaefa dafhcrknsy mnperkcrvw // LOCUS NP_001003911 1615 aa linear ROD 09-OCT-2023 DEFINITION A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 1 precursor [Mus musculus]. ACCESSION NP_001003911 XP_135041 VERSION NP_001003911.2 DBSOURCE REFSEQ: accession NM_001003911.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1615) AUTHORS Sharifi MA, Wierer M, Dang TA, Milic J, Moggio A, Sachs N, von Scheidt M, Hinterdobler J, Muller P, Werner J, Stiller B, Aherrahrou Z, Erdmann J, Zaliani A, Graettinger M, Reinshagen J, Gul S, Gribbon P, Maegdefessel L, Bernhagen J, Sager HB, Mann M, Schunkert H and Kessler T. TITLE ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1 JOURNAL Circ Res 133 (8), 674-686 (2023) PUBMED 37675562 REMARK GeneRIF: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1. REFERENCE 2 (residues 1 to 1615) AUTHORS Gong Z, Huang J, Wang D, Yang S, Ma Z, Fu Y, Ma Q and Kong W. TITLE ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice JOURNAL J Mol Med (Berl) 101 (3), 237-248 (2023) PUBMED 36662289 REMARK GeneRIF: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice. REFERENCE 3 (residues 1 to 1615) AUTHORS Ma Z, Mao C, Jia Y, Yu F, Xu P, Tan Y, Zou QH, Zhou XJ, Kong W and Fu Y. TITLE ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries JOURNAL J Am Soc Nephrol 34 (2), 291-308 (2023) PUBMED 36735376 REMARK GeneRIF: ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries. REFERENCE 4 (residues 1 to 1615) AUTHORS Jaiswal AK and Mishra A. TITLE ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses JOURNAL Lung 200 (3), 305-313 (2022) PUBMED 35503474 REMARK GeneRIF: ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses. REFERENCE 5 (residues 1 to 1615) AUTHORS Mizoguchi T, MacDonald BT, Bhandary B, Popp NR, Laprise D, Arduini A, Lai D, Zhu QM, Xing Y, Kaushik VK, Kathiresan S and Ellinor PT. TITLE Coronary Disease Association With ADAMTS7 Is Due to Protease Activity JOURNAL Circ Res 129 (4), 458-470 (2021) PUBMED 34176299 REFERENCE 6 (residues 1 to 1615) AUTHORS Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP and Liu CJ. TITLE ADAMTS-7 forms a positive feedback loop with TNF-alpha in the pathogenesis of osteoarthritis JOURNAL Ann Rheum Dis 73 (8), 1575-1584 (2014) PUBMED 23928557 REMARK GeneRIF: ADAMTS-7 and TNF-alpha form a positive feedback loop in the regulation of cartilage degradation and osteoarthritis progression. REFERENCE 7 (residues 1 to 1615) AUTHORS Du J, Takeuchi H, Leonhard-Melief C, Shroyer KR, Dlugosz M, Haltiwanger RS and Holdener BC. TITLE O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation JOURNAL Dev Biol 346 (1), 25-38 (2010) PUBMED 20637190 REFERENCE 8 (residues 1 to 1615) AUTHORS Bai XH, Wang DW, Kong L, Zhang Y, Luan Y, Kobayashi T, Kronenberg HM, Yu XP and Liu CJ. TITLE ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor JOURNAL Mol Cell Biol 29 (15), 4201-4219 (2009) PUBMED 19487464 REMARK GeneRIF: Findings demonstrate that ADAMTS-7, a direct target of PTHrP signaling, negatively regulates endochondral bone formation by associating with and inactivating GEP chondrogenic growth factor. REFERENCE 9 (residues 1 to 1615) AUTHORS Somerville RP, Longpre JM, Apel ED, Lewis RM, Wang LW, Sanes JR, Leduc R and Apte SS. TITLE ADAMTS7B, the full-length product of the ADAMTS7 gene, is a chondroitin sulfate proteoglycan containing a mucin domain JOURNAL J Biol Chem 279 (34), 35159-35175 (2004) PUBMED 15192113 REMARK GeneRIF: ADAMTS7B has a domain organization with a total of eight thrombospondin type 1 repeats in its ancillary domain. Of these, seven are arranged in two distinct clusters that are separated by a mucin domain REFERENCE 10 (residues 1 to 1615) AUTHORS Hurskainen TL, Hirohata S, Seldin MF and Apte SS. TITLE ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family JOURNAL J Biol Chem 274 (36), 25555-25563 (1999) PUBMED 10464288 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BY347798.1, BC076575.1, CB246893.1 and BC058991.1. On Mar 20, 2007 this sequence version replaced NP_001003911.1. Summary: This gene encodes a member of 'a disintegrin and metalloproteinase with thrombospondin motifs' (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]. Transcript Variant: This variant (1) encodes isoform (1). This isoform (1) may undergo proteolytic processing similar to isoform 4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC141173.1, SRR9219380.40329.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1615 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 47.46 cM" Protein 1..1615 /product="A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 1 precursor" /EC_number="3.4.24.-" /note="a disintegrin and metalloproteinase with thrombospondin motifs 7; COMPase; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7" /calculated_mol_wt=175298 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2433 Region 34..174 /region_name="Pep_M12B_propep" /note="Reprolysin family propeptide; pfam01562" /db_xref="CDD:426325" Region 226..434 /region_name="ZnMc_ADAMTS_like" /note="Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that...; cd04273" /db_xref="CDD:239801" Site order(372..373,376,382) /site_type="active" /db_xref="CDD:239801" Region 449..513 /region_name="ADAM_CR_2" /note="ADAM cysteine-rich domain; pfam17771" /db_xref="CDD:436031" Region 526..578 /region_name="TSP1" /note="Thrombospondin type 1 repeats; smart00209" /db_xref="CDD:214559" Region 584..682 /region_name="ADAM_CR_3" /note="ADAM cysteine-rich domain; pfam19236" /db_xref="CDD:437068" Region 684..793 /region_name="ADAM_spacer1" /note="ADAM-TS Spacer 1; pfam05986" /db_xref="CDD:428708" Region 808..862 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 866..922 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region <1023..1361 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 1344..1392 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1395..1450 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1453..1499 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1502..1557 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" CDS 1..1615 /gene="Adamts7" /gene_synonym="ADAM-TS7; ADAMTS7B" /coded_by="NM_001003911.2:268..5115" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS40724.1" /db_xref="GeneID:108153" /db_xref="MGI:MGI:1347346" ORIGIN 1 mhrgpsllli lcalasrvlg pasglvtegr agldivhpvr vdaggsflsy elwprvlrkr 61 dvsttqassa fyqlqyqgre llfnlttnpy lmapgfvsei rrhstlghah iqtsvptchl 121 lgdvqdpele ggfaaisacd glrgvfqlsn edyfiepldg vsaqpghaqp hvvykhqgsr 181 kqaqqgdsrp sgtcgmqvpp dleqqrehwe qqqqkrrqqr svskekwvet lvvadskmve 241 yhgqpqvesy vltimnmvag lfhdpsignp ihisivrlii ledeekdlki thhaeetlkn 301 fcrwqknini kgddhpqhhd tailltrkdl casmnqpcet lglshvsglc hpqlscsvse 361 dtgmplaftv ahelghsfgi qhdgtgndce sigkrpfims pqllydrgip ltwsrcsrey 421 itrfldrgwg lclddrpskd vialpsvlpg vlydvnhqcr lqygshsayc edmddvchtl 481 wcsvgttchs kldaavdgts cgknkwclkg ecvpegfqpe avdggwsgws awsdcsrscg 541 vgvrsserqc tqpvpknrgk ycvgerkrsq lcnlpacppd rpsfrhtqcs qfdgmlykgk 601 lhkwvpvpnd dnpcelhcrp snssnteklr davvdgtpcy qsrisrdicl ngicknvgcd 661 fvidsgaeed rcgvcrgdgs tcqtvsrtfk etegqgyvdi glipagarei lieevaeaan 721 flalrsedpd kyflnggwti qwngdyrvag ttftyarkgn wenltspgpt sepvwiqllf 781 qeknpgvhyq ytiqrdshdq vrppefswhy gpwskctvtc gtgvqrqsly cmerqagvva 841 eeycntlnrp derqrkcsee pcpprwwage wqpcsrscgp eglsrravfc irsmgldeqr 901 alelsacehl prplaetpcn rhvicpstwg vgnwsqypmy ivdtgasgsg ssspelfnev 961 dfipnqlapr pspasspkpv sisnaideee ldppgpvfvd dfyydynfin fhedlsygsf 1021 eephpdlvdn ggwtapphir ptespsdtpv ptagalgaea ediqgswsps pllseasysp 1081 pgleqtsinp lanflteedt pmgapelgfp slpwppasvd dmmtpvgpgn pdellvkede 1141 qsppstpwsd rnklstdgnp lghtspalpq spiptqpspp sisptqasps pdvvevstgw 1201 naawdpvlea dlkpghgelp stvevasppl lpmatvpgiw grdsplepgt ptfsspelss 1261 qhlktltmpg tllltvptdl rspgpsgqpq tpnlegtqsp gllptparet qtnsskdpev 1321 qplqpsleed gdpadplpar naswqvgnws qcsttcglga iwrlvscssg ndedctlasr 1381 pqparhchlr pcaawrtgnw skcsrncggg sstrdvqcvd trdlrplrpf hcqpgptkpp 1441 nrqlcgtqpc lpwytsswre cseacgggeq qrlvtcpepg lceeslrpnn srpcnthpct 1501 qwvvgpwgqc sapcgggvqr rlvrcvntqt glaeedsdlc sheawpessr pcatedcelv 1561 epprcerdrl sfnfcetlrl lgrcqlptir aqccrscppl srgvpsrghq rvarr // LOCUS NP_001104572 574 aa linear ROD 09-OCT-2023 DEFINITION prelamin-A/C isoform C [Mus musculus]. ACCESSION NP_001104572 VERSION NP_001104572.1 DBSOURCE REFSEQ: accession NM_001111102.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 574) AUTHORS Kim JR, Kim PH, Presnell A, Tu Y and Young SG. TITLE Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice JOURNAL Nucleus 14 (1), 2262308 (2023) PUBMED 37754663 REMARK GeneRIF: Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice. REFERENCE 2 (residues 1 to 574) AUTHORS Chang L, Huang R, Chen J, Li G, Shi G, Xu B and Wang L. TITLE An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration JOURNAL BMC Med Genomics 16 (1), 229 (2023) PUBMED 37784143 REMARK GeneRIF: An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration. Publication Status: Online-Only REFERENCE 3 (residues 1 to 574) AUTHORS Pruvost M, Patzig J, Yattah C, Selcen I, Hernandez M, Park HJ, Moyon S, Liu S, Morioka MS, Shopland L, Al-Dalahmah O, Bendl J, Fullard JF, Roussos P, Goldman J, He Y, Dupree JL and Casaccia P. TITLE The stability of the myelinating oligodendrocyte transcriptome is regulated by the nuclear lamina JOURNAL Cell Rep 42 (8), 112848 (2023) PUBMED 37515770 REFERENCE 4 (residues 1 to 574) AUTHORS Jahn D, Schramm S, Benavente R and Alsheimer M. TITLE Dynamic properties of meiosis-specific lamin C2 and its impact on nuclear envelope integrity JOURNAL Nucleus 1 (3), 273-283 (2010) PUBMED 21327075 REMARK GeneRIF: lamin C2 as a 'natural lamin deletion mutant' that confers unique properties to the nuclear envelope which would be essential for dynamic telomere repositioning during meiotic prophase I REFERENCE 5 (residues 1 to 574) AUTHORS Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, Stewart CL and Burke B. TITLE Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy JOURNAL J Cell Biol 147 (5), 913-920 (1999) PUBMED 10579712 REFERENCE 6 (residues 1 to 574) AUTHORS Eggert M, Radomski N, Tripier D, Traub P and Jost E. TITLE Identification of phosphorylation sites on murine nuclear lamin C by RP-HPLC and microsequencing JOURNAL FEBS Lett 292 (1-2), 205-209 (1991) PUBMED 1959608 REFERENCE 7 (residues 1 to 574) AUTHORS Weber K, Plessmann U and Traub P. TITLE Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina JOURNAL FEBS Lett 257 (2), 411-414 (1989) PUBMED 2583287 REFERENCE 8 (residues 1 to 574) AUTHORS Riedel W and Werner D. TITLE Nucleotide sequence of the full-length mouse lamin C cDNA and its deduced amino-acid sequence JOURNAL Biochim Biophys Acta 1008 (1), 119-122 (1989) PUBMED 2719959 REFERENCE 9 (residues 1 to 574) AUTHORS Rober RA, Weber K and Osborn M. TITLE Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study JOURNAL Development 105 (2), 365-378 (1989) PUBMED 2680424 REFERENCE 10 (residues 1 to 574) AUTHORS Houliston E, Guilly MN, Courvalin JC and Maro B. TITLE Expression of nuclear lamins during mouse preimplantation development JOURNAL Development 102 (2), 271-278 (1988) PUBMED 3046911 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC145168.5, AK149998.1 and AK210245.1. Summary: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]. Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C) has a distinct and shorter C-terminus, compared to isoform A. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK149998.1, AK152846.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164143 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..574 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 38.84 cM" Protein 1..574 /product="prelamin-A/C isoform C" /note="prelamin-A/C; lamin-A/C; lamin C" /calculated_mol_wt=65315 Region 1..130 /region_name="Interaction with MLIP. /evidence=ECO:0000250|UniProtKB:P02545" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 1..33 /region_name="Head" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 1..25 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 3 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 12 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 18 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 19 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 22 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 30..386 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:425436" Site 32 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 34..70 /region_name="Coil 1A" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 51 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 66 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 71..80 /region_name="Linker 1" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 71 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 81..218 /region_name="Coil 1B" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 107 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 108 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 123 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 135 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 155 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 171 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 201 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 212 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 219..242 /region_name="Linker 2" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 243..383 /region_name="Coil 2" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 260 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 266 /site_type="other" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 270 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 277 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 301 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 307 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 311 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 325 /site_type="other" /note="Stutter. /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 330 /site_type="other" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 384..442 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 390 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 392 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; Phosphoserine, by CDK1. /evidence=ECO:0000269|PubMed:1959608, ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 395 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 398 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 403 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 404 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 407 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 409 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 414 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 417..422 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 429 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 431 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 434..541 /region_name="LTD" /note="Lamin Tail Domain; pfam00932" /db_xref="CDD:425951" Site 450 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 457 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 458 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 460 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 463 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 496 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 500 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 505 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 510 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 533 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 546 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 548 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 569 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 570 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" CDS 1..574 /gene="Lmna" /gene_synonym="Dhe" /coded_by="NM_001111102.2:250..1974" /note="isoform C is encoded by transcript variant 3" /db_xref="CCDS:CCDS50951.1" /db_xref="GeneID:16905" /db_xref="MGI:MGI:96794" ORIGIN 1 metpsqrrat rsgaqasstp lsptritrlq ekedlqelnd rlavyidrvr sletenaglr 61 lriteseevv srevsgikaa yeaelgdark tldsvakera rlqlelskvr eefkelkarn 121 tkkegdllaa qarlkdleal lnskeaalst alsekrtleg elhdlrgqva kleaalgeak 181 kqlqdemlrr vdaenrlqtl keeldfqkni yseelretkr rhetrlveid ngkqrefesr 241 ladalqelra qhedqveqyk kelektysak ldnarqsaer nsnlvgaahe elqqsririd 301 slsaqlsqlq kqlaakeakl rdledslare rdtsrrllae keremaemra rmqqqldeyq 361 elldiklald meihayrkll egeeerlrls psptsqrsrg rasshssqsq gggsvtkkrk 421 lessesrssf sqhartsgrv aveevdeegk fvrlrnksne dqsmgnwqir rqngddplmt 481 yrfppkftlk agqvvtiwas gagathsppt dlvwkaqntw gcgsslrtal instgeevam 541 rklvrsltmv ednedddedg eellhhhrvs gsrr // LOCUS NP_032052 452 aa linear ROD 09-OCT-2023 DEFINITION Friend leukemia integration 1 transcription factor isoform 1 [Mus musculus]. ACCESSION NP_032052 VERSION NP_032052.1 DBSOURCE REFSEQ: accession NM_008026.6 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 452) AUTHORS Wang X, Richard ML, Caldwell TS, Sundararaj K, Sato S, Nowling TK and Zhang XK. TITLE Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis JOURNAL Front Immunol 14, 1219279 (2023) PUBMED 37790939 REMARK GeneRIF: Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 452) AUTHORS Sato S, Zhang XK, Matsuoka N, Sumichika Y, Saito K, Yoshida S, Matsumoto H, Temmoku J, Fujita Y, Asano T and Migita K. TITLE Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse JOURNAL Lupus Sci Med 10 (1) (2023) PUBMED 37094946 REMARK GeneRIF: Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse. REFERENCE 3 (residues 1 to 452) AUTHORS Shintani A, Fukai S, Nobusawa R, Taniguchi K, Hatatani T, Nagai H, Sakai T, Yoshimura T, Miyasaka M and Hayasaka H. TITLE Dach1 transcription factor regulates the expression of peripheral node addressin and lymphocyte trafficking in lymph nodes JOURNAL Curr Res Immunol 3, 175-185 (2022) PUBMED 36045707 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 452) AUTHORS Sinha T, Lammerts van Bueren K, Dickel DE, Zlatanova I, Thomas R, Lizama CO, Xu SM, Zovein AC, Ikegami K, Moskowitz IP, Pollard KS, Pennacchio LA and Black BL. TITLE Differential Etv2 threshold requirement for endothelial and erythropoietic development JOURNAL Cell Rep 39 (9), 110881 (2022) PUBMED 35649376 REFERENCE 5 (residues 1 to 452) AUTHORS Sarrazin S, Starck J, Gonnet C, Doubeikovski A, Melet F and Morle F. TITLE Negative and translation termination-dependent positive control of FLI-1 protein synthesis by conserved overlapping 5' upstream open reading frames in Fli-1 mRNA JOURNAL Mol Cell Biol 20 (9), 2959-2969 (2000) PUBMED 10757781 REFERENCE 6 (residues 1 to 452) AUTHORS Barbeau B, Bergeron D, Beaulieu M, Nadjem Z and Rassart E. TITLE Characterization of the human and mouse Fli-1 promoter regions JOURNAL Biochim Biophys Acta 1307 (2), 220-232 (1996) PUBMED 8679708 REFERENCE 7 (residues 1 to 452) AUTHORS Watson DK, Smyth FE, Thompson DM, Cheng JQ, Testa JR, Papas TS and Seth A. TITLE The ERGB/Fli-1 gene: isolation and characterization of a new member of the family of human ETS transcription factors JOURNAL Cell Growth Differ 3 (10), 705-713 (1992) PUBMED 1445800 REFERENCE 8 (residues 1 to 452) AUTHORS Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G et al. TITLE Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours JOURNAL Nature 359 (6391), 162-165 (1992) PUBMED 1522903 REFERENCE 9 (residues 1 to 452) AUTHORS Moore SK, Appella E, Villar CJ and Kozak CA. TITLE Mapping of the mouse 86-kDa heat-shock protein expressed gene (Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11 JOURNAL Genomics 10 (4), 1019-1029 (1991) PUBMED 1916807 REFERENCE 10 (residues 1 to 452) AUTHORS Bergeron D, Poliquin L, Kozak CA and Rassart E. TITLE Identification of a common viral integration region in Cas-Br-E murine leukemia virus-induced non-T-, non-B-cell lymphomas JOURNAL J Virol 65 (1), 7-15 (1991) PUBMED 1845910 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127581.4 and AC141646.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK036655.1, AK154714.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein regulatory uORF :: PMID: 10757781 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..452 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 17.74 cM" Protein 1..452 /product="Friend leukemia integration 1 transcription factor isoform 1" /note="friend leukemia integration 1 transcription factor; retroviral integration site protein Fli-1" /calculated_mol_wt=50871 Site 39 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26323.1)" Region 114..204 /region_name="SAM_PNT-FLI-1" /note="Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator; cd08541" /db_xref="CDD:188883" Region 236..260 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P26323.1)" Region 280..363 /region_name="ETS" /note="erythroblast transformation specific domain; smart00413" /db_xref="CDD:197710" CDS 1..452 /gene="Fli1" /gene_synonym="EWSR2; Fli-1; SIC-1; Sic1" /coded_by="NM_008026.6:190..1548" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS40571.1" /db_xref="GeneID:14247" /db_xref="MGI:MGI:95554" ORIGIN 1 mdgtikeals vvsddqslfd saygaaahlp kadmtasgsp dygqphkinp lppqqewinq 61 pvrvnvkrey dhmngsresp vdcsvskcnk lvgggeanpm nynsymdekn gppppnmttn 121 errvivpadp tlwtqehvrq wlewaikeyg lmeidtsffq nmdgkelckm nkedflrats 181 ayntevllsh lsylressll aynttshtdq ssrlnvkedp sydsvrrgaw nnnmnsglnk 241 spllggsqtm gknteqrpqp dpyqilgpts srlanpgsgq iqlwqfllel lsdsanasci 301 twegtngefk mtdpdevarr wgerkskpnm nydklsralr yyydknimtk vhgkryaykf 361 dfhgiaqalq phptetsmyk ypsdisymps yhahqqkvnf vpshpssmpv tsssffgaas 421 qywtsptagi ypnpsvprhp nthvpshlgs yy // LOCUS NP_001259027 73 aa linear ROD 09-OCT-2023 DEFINITION uncharacterized protein LOC16592 isoform 3 [Mus musculus]. ACCESSION NP_001259027 VERSION NP_001259027.1 DBSOURCE REFSEQ: accession NM_001272098.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 73) AUTHORS Penman SL, Roeder NM, Berthold EC, Senetra AS, Marion M, Richardson BJ, White O, Fearby NL, McCurdy CR, Hamilton J, Sharma A and Thanos PK. TITLE FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice JOURNAL Pharmacol Biochem Behav 231, 173633 (2023) PUBMED 37716413 REMARK GeneRIF: FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice. REFERENCE 2 (residues 1 to 73) AUTHORS Chen Z, He C, Gao Z, Li Y, He Q, Wang Y and Cai C. TITLE Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5 JOURNAL ESC Heart Fail 10 (3), 1677-1688 (2023) PUBMED 36788730 REMARK GeneRIF: Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5. REFERENCE 3 (residues 1 to 73) AUTHORS Guo Q, Kawahata I, Cheng A, Wang H, Jia W, Yoshino H and Fukunaga K. TITLE Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons JOURNAL Redox Biol 59, 102547 (2023) PUBMED 36481733 REMARK GeneRIF: Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons. REFERENCE 4 (residues 1 to 73) AUTHORS Reynolds JM, Liu Q, Brittingham KC, Liu Y, Gruenthal M, Gorgun CZ, Hotamisligil GS, Stout RD and Suttles J. TITLE Deficiency of fatty acid-binding proteins in mice confers protection from development of experimental autoimmune encephalomyelitis JOURNAL J Immunol 179 (1), 313-321 (2007) PUBMED 17579051 REMARK GeneRIF: Metabolic-inflammatory pathway cross-regulation by epidermal-type FABP contributes to adaptive immune responses and subsequent autoimmune inflammation. REFERENCE 5 (residues 1 to 73) AUTHORS Maeda K, Cao H, Kono K, Gorgun CZ, Furuhashi M, Uysal KT, Cao Q, Atsumi G, Malone H, Krishnan B, Minokoshi Y, Kahn BB, Parker RA and Hotamisligil GS. TITLE Adipocyte/macrophage fatty acid binding proteins control integrated metabolic responses in obesity and diabetes JOURNAL Cell Metab 1 (2), 107-119 (2005) PUBMED 16054052 REFERENCE 6 (residues 1 to 73) AUTHORS Owada Y, Suzuki R, Iwasa H, Spener F and Kondo H. TITLE Localization of epidermal-type fatty acid binding protein in the thymic epithelial cells of mice JOURNAL Histochem Cell Biol 117 (1), 55-60 (2002) PUBMED 11819097 REFERENCE 7 (residues 1 to 73) AUTHORS Yanase H, Shimizu H, Kanda T, Fujii H and Iwanaga T. TITLE Cellular localization of the diazepam binding inhibitor (DBI) in the gastrointestinal tract of mice and its coexistence with the fatty acid binding protein (FABP) JOURNAL Arch Histol Cytol 64 (4), 449-460 (2001) PUBMED 11757913 REFERENCE 8 (residues 1 to 73) AUTHORS Hertzel AV and Bernlohr DA. TITLE Cloning and chromosomal location of the murine keratinocyte lipid-binding protein gene JOURNAL Gene 221 (2), 235-243 (1998) PUBMED 9795232 REFERENCE 9 (residues 1 to 73) AUTHORS Bleck B, Hohoff C, Binas B, Rustow B, Dixkens C, Hameister H, Borchers T and Spener F. TITLE Cloning and chromosomal localisation of the murine epidermal-type fatty acid binding protein gene (Fabpe) JOURNAL Gene 215 (1), 123-130 (1998) PUBMED 9666100 REFERENCE 10 (residues 1 to 73) AUTHORS Krieg P, Feil S, Furstenberger G and Bowden GT. TITLE Tumor-specific overexpression of a novel keratinocyte lipid-binding protein. Identification and characterization of a cloned sequence activated during multistage carcinogenesis in mouse skin JOURNAL J Biol Chem 268 (23), 17362-17369 (1993) PUBMED 8349619 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC157379.7, W54445.1 and BE987062.1. Summary: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. In humans this gene has been associated with psoriasis and type 2 diabetes. In mouse deficiency of this gene in combination with a deficiency in Fabp4 confers protection against atherosclerosis, diet-induced obesity, insulin resistance and experimental autoimmune encephalomyelitis (the mouse model for multiple sclerosis). Alternative splicing results in multiple transcript variants that encode different protein isoforms. The mouse genome contains many pseudogenes similar to this locus. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. Variant 3 lacks a large portion of the central coding region found in variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. This isoform lacks the lipocalin domain found in isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: W54445.1, SRR7345562.4455647.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849376, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..73 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 2.47 cM" Protein 1..73 /product="uncharacterized protein LOC16592 isoform 3" /note="fatty acid-binding protein, epidermal; epithelial fatty acid-binding protein; keratinocyte lipid-binding protein; epidermal-type fatty acid-binding protein; psoriasis-associated fatty acid-binding protein homolog" /calculated_mol_wt=8239 Region 6..>26 /region_name="lipocalin_FABP" /note="lipocalin/cytosolic fatty acid-binding protein family; cl10502" /db_xref="CDD:447910" CDS 1..73 /gene="Fabp5" /gene_synonym="E-FABP; Fabpe; Klbp; mal1; PA-FABP" /coded_by="NM_001272098.1:56..277" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:16592" /db_xref="MGI:MGI:101790" ORIGIN 1 maslkdlegk wrlmeshgfe eymkeldglh lprrcpgpap amgregehdn kktegweddr 61 gvcheqchlh sgl // LOCUS NP_032863 416 aa linear ROD 09-OCT-2023 DEFINITION PRKCA-binding protein [Mus musculus]. ACCESSION NP_032863 VERSION NP_032863.2 DBSOURCE REFSEQ: accession NM_008837.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 416) AUTHORS Birmingham EA, Wickens MM, Kirkland JM, Knouse MC, McGrath AG and Briand LA. TITLE Circulating ovarian hormones interact with protein interacting with C kinase (PICK1) within the medial prefrontal cortex to influence cocaine seeking in female mice JOURNAL Horm Behav 155, 105408 (2023) PUBMED 37541099 REMARK GeneRIF: Circulating ovarian hormones interact with protein interacting with C kinase (PICK1) within the medial prefrontal cortex to influence cocaine seeking in female mice. REFERENCE 2 (residues 1 to 416) AUTHORS Ramsakha N, Ojha P, Pal S, Routh S, Citri A and Bhattacharyya S. TITLE A vital role for PICK1 in the differential regulation of metabotropic glutamate receptor internalization and synaptic AMPA receptor endocytosis JOURNAL J Biol Chem 299 (6), 104837 (2023) PUBMED 37209824 REMARK GeneRIF: A vital role for PICK1 in the differential regulation of metabotropic glutamate receptor internalization and synaptic AMPA receptor endocytosis. REFERENCE 3 (residues 1 to 416) AUTHORS Du YQ, Shu CY, Zheng M, Xu WD, Sun Y, Shen L, Zhang C, Zhang YX, Wang QN, Li KQ, Chen BY, Hao K, Lyu JX and Wang Z. TITLE Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice JOURNAL Curr Med Sci 43 (2), 313-323 (2023) PUBMED 36971977 REMARK GeneRIF: Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice. REFERENCE 4 (residues 1 to 416) AUTHORS Zhu Z, Wang W, Gu C, Wang M and Yan Y. TITLE The M1 muscarinic acetylcholine receptor regulates the surface expression of the AMPA receptor subunit GluA2 via PICK1 JOURNAL Psychopharmacology (Berl) 240 (1), 239-248 (2023) PUBMED 36564670 REMARK GeneRIF: The M1 muscarinic acetylcholine receptor regulates the surface expression of the AMPA receptor subunit GluA2 via PICK1. REFERENCE 5 (residues 1 to 416) AUTHORS Longatti A, Ponzoni L, Moretto E, Giansante G, Lattuada N, Colombo MN, Francolini M, Sala M, Murru L and Passafaro M. TITLE Arhgap22 Disruption Leads to RAC1 Hyperactivity Affecting Hippocampal Glutamatergic Synapses and Cognition in Mice JOURNAL Mol Neurobiol 58 (12), 6092-6110 (2021) PUBMED 34455539 REFERENCE 6 (residues 1 to 416) AUTHORS Takeya R, Takeshige K and Sumimoto H. TITLE Interaction of the PDZ domain of human PICK1 with class I ADP-ribosylation factors JOURNAL Biochem Biophys Res Commun 267 (1), 149-155 (2000) PUBMED 10623590 REFERENCE 7 (residues 1 to 416) AUTHORS Dev KK, Nishimune A, Henley JM and Nakanishi S. TITLE The protein kinase C alpha binding protein PICK1 interacts with short but not long form alternative splice variants of AMPA receptor subunits JOURNAL Neuropharmacology 38 (5), 635-644 (1999) PUBMED 10340301 REFERENCE 8 (residues 1 to 416) AUTHORS Torres R, Firestein BL, Dong H, Staudinger J, Olson EN, Huganir RL, Bredt DS, Gale NW and Yancopoulos GD. TITLE PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands JOURNAL Neuron 21 (6), 1453-1463 (1998) PUBMED 9883737 REFERENCE 9 (residues 1 to 416) AUTHORS Staudinger J, Lu J and Olson EN. TITLE Specific interaction of the PDZ domain protein PICK1 with the COOH terminus of protein kinase C-alpha JOURNAL J Biol Chem 272 (51), 32019-32024 (1997) PUBMED 9405395 REFERENCE 10 (residues 1 to 416) AUTHORS Staudinger J, Zhou J, Burgess R, Elledge SJ and Olson EN. TITLE PICK1: a perinuclear binding protein and substrate for protein kinase C isolated by the yeast two-hybrid system JOURNAL J Cell Biol 128 (3), 263-271 (1995) PUBMED 7844141 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL591921.6, BU698586.1, AK090155.1, AI893973.1 and AI385692.1. On Sep 2, 2006 this sequence version replaced NP_032863.1. Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.2754765.1, SRR7652917.769742.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..416 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 37.7 cM" Protein 1..416 /product="PRKCA-binding protein" /note="protein kinase C-alpha-binding protein; protein that interacts with C kinase 1" /calculated_mol_wt=46396 Region 19..99 /region_name="PDZ" /note="Domain present in PSD-95, Dlg, and ZO-1/2; smart00228" /db_xref="CDD:214570" Site order(32..35,37,86..87,90..91) /site_type="other" /note="protein binding site [polypeptide binding]" /db_xref="CDD:238492" Site 82 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9NRD5; propagated from UniProtKB/Swiss-Prot (Q62083.2)" Region 146..360 /region_name="BAR_PICK1" /note="The Bin/Amphiphysin/Rvs (BAR) domain of Protein Interacting with C Kinase 1; cd07659" /db_xref="CDD:153343" Site order(162..163,169,173,176,179..180,183,186..187,191, 193..194,197,200..201,206..207,209..210,213,217,326, 330..331,334..335,337..338,345..346,348..349) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:153343" Site order(168,171,174..175,178..179,181..183,185..186,222,225, 229,232..233) /site_type="active" /note="putative Rac binding site [active]" /db_xref="CDD:153343" Region 373..416 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q62083.2)" CDS 1..416 /gene="Pick1" /gene_synonym="Prkcabp" /coded_by="NM_008837.3:312..1562" /db_xref="CCDS:CCDS27635.1" /db_xref="GeneID:18693" /db_xref="MGI:MGI:894645" ORIGIN 1 mfadldydie edklgiptvp gkvtlqkdaq nligisiggg aqycpclyiv qvfdntpaal 61 dgtvaagdei tgvngksikg ktkvevakmi qevkgevtih ynklqadpkq gmsldivlkk 121 vkhrlvenms sgtadalgls railcndglv krleelerta elykgmteht knllrafyel 181 sqthrafgdv fsvigvrepq paaseafvkf adahrsiekf girllktikp mltdlntyln 241 kaipdtrlti kkyldvkfey lsyclkvkem ddeeyscial geplyrvstg nyeyrlilrc 301 rqeararfsq mrkdvlekme lldqkhvqdi vfqlqrfvst mskyyndcya vlqdadvfpi 361 evdlahttla ygpnqgsftd geeedeeeed gaarevskda cgatgptdkg gswcds // LOCUS NP_032986 403 aa linear ROD 09-OCT-2023 DEFINITION phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN [Mus musculus]. ACCESSION NP_032986 VERSION NP_032986.1 DBSOURCE REFSEQ: accession NM_008960.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 403) AUTHORS Brodaczewska K, Majewska A, Filipiak-Duliban A and Kieda C. TITLE Pten knockout affects drug resistance differently in melanoma and kidney cancer JOURNAL Pharmacol Rep 75 (5), 1187-1199 (2023) PUBMED 37673853 REMARK GeneRIF: Pten knockout affects drug resistance differently in melanoma and kidney cancer. REFERENCE 2 (residues 1 to 403) AUTHORS Baird L, Taguchi K, Zhang A, Takahashi Y, Suzuki T, Kensler TW and Yamamoto M. TITLE A NRF2-induced secretory phenotype activates immune surveillance to remove irreparably damaged cells JOURNAL Redox Biol 66, 102845 (2023) PUBMED 37597423 REFERENCE 3 (residues 1 to 403) AUTHORS Doha ZO, Wang X, Calistri NL, Eng J, Daniel CJ, Ternes L, Kim EN, Pelz C, Munks M, Betts C, Kwon S, Bucher E, Li X, Waugh T, Tatarova Z, Blumberg D, Ko A, Kirchberger N, Pietenpol JA, Sanders ME, Langer EM, Dai MS, Mills G, Chin K, Chang YH, Coussens LM, Gray JW, Heiser LM and Sears RC. TITLE MYC Deregulation and PTEN Loss Model Tumor and Stromal Heterogeneity of Aggressive Triple-Negative Breast Cancer JOURNAL Nat Commun 14 (1), 5665 (2023) PUBMED 37704631 REMARK GeneRIF: MYC Deregulation and PTEN Loss Model Tumor and Stromal Heterogeneity of Aggressive Triple-Negative Breast Cancer. Publication Status: Online-Only REFERENCE 4 (residues 1 to 403) AUTHORS Xu Z, He L, Wu Y, Yang L, Li C and Wu H. TITLE PTEN regulates hematopoietic lineage plasticity via PU.1-dependent chromatin accessibility JOURNAL Cell Rep 42 (8), 112967 (2023) PUBMED 37561626 REMARK GeneRIF: PTEN regulates hematopoietic lineage plasticity via PU.1-dependent chromatin accessibility. REFERENCE 5 (residues 1 to 403) AUTHORS Chessa TAM, Jung P, Anwar A, Suire S, Anderson KE, Barneda D, Kielkowska A, Sadiq BA, Lai IW, Felisbino S, Turnham DJ, Pearson HB, Phillips WA, Sasaki J, Sasaki T, Oxley D, Spensberger D, Segonds-Pichon A, Wilson M, Walker S, Okkenhaug H, Cosulich S, Hawkins PT and Stephens LR. TITLE PLEKHS1 drives PI3Ks and remodels pathway homeostasis in PTEN-null prostate JOURNAL Mol Cell 83 (16), 2991-3009 (2023) PUBMED 37567175 REMARK GeneRIF: PLEKHS1 drives PI3Ks and remodels pathway homeostasis in PTEN-null prostate. REFERENCE 6 (residues 1 to 403) AUTHORS Suzuki A, de la Pompa JL, Stambolic V, Elia AJ, Sasaki T, del Barco Barrantes I, Ho A, Wakeham A, Itie A, Khoo W, Fukumoto M and Mak TW. TITLE High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice JOURNAL Curr Biol 8 (21), 1169-1178 (1998) PUBMED 9799734 REFERENCE 7 (residues 1 to 403) AUTHORS Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP and Mak TW. TITLE Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN JOURNAL Cell 95 (1), 29-39 (1998) PUBMED 9778245 REFERENCE 8 (residues 1 to 403) AUTHORS Di Cristofano A, Pesce B, Cordon-Cardo C and Pandolfi PP. TITLE Pten is essential for embryonic development and tumour suppression JOURNAL Nat Genet 19 (4), 348-355 (1998) PUBMED 9697695 REFERENCE 9 (residues 1 to 403) AUTHORS Hansen GM and Justice MJ. TITLE Pten, a candidate tumor suppressor gene, maps to mouse chromosome 19 JOURNAL Mamm Genome 9 (1), 88-90 (1998) PUBMED 9434957 REFERENCE 10 (residues 1 to 403) AUTHORS Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH and Tavtigian SV. TITLE Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers JOURNAL Nat Genet 15 (4), 356-362 (1997) PUBMED 9090379 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U92437.1, AK138025.1, CK616227.1 and BU701098.1. Summary: This gene encodes a phosphatase with dual activity against phospholipids and proteins, and acts as a tumor-suppressor. The protein contains four structural domains, a PIP2-binding domain, a catalytic tensin-type phosphatase domain, a C2 tensin-type domain and a PDZ-binding domain. The protein belongs to the protein tyrosine phosphatase family. Deletion of this gene in mice contribute to tumorigenesis in multiple tissues. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK076980.1, AK088717.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..403 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 28.14 cM" Protein 1..403 /product="phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN" /EC_number="3.1.3.67" /EC_number="3.1.3.16" /EC_number="3.1.3.48" /note="mutated in multiple advanced cancers 1; mitochondrial PTENalpha; PTENepsilon" /calculated_mol_wt=47021 Site 2 /site_type="acetylation" /note="N-acetylthreonine. /evidence=ECO:0000250|UniProtKB:P60484; propagated from UniProtKB/Swiss-Prot (O08586.1)" Region 24..181 /region_name="PTP_PTEN" /note="protein tyrosine phosphatase-like catalytic domain of phosphatase and tensin homolog; cd14509" /db_xref="CDD:350359" Region 188..349 /region_name="PTEN_C2" /note="C2 domain of PTEN tumor-suppressor protein; pfam10409" /db_xref="CDD:431265" Site 294 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 319 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P60484; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 321 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P60484; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 336 /site_type="phosphorylation" /note="Phosphotyrosine, by FRK. /evidence=ECO:0000250|UniProtKB:P60484; propagated from UniProtKB/Swiss-Prot (O08586.1)" Region 338..348 /region_name="Required for interaction with NOP53. /evidence=ECO:0000250|UniProtKB:P60484" /note="propagated from UniProtKB/Swiss-Prot (O08586.1)" Region 352..403 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 366 /site_type="phosphorylation" /note="Phosphothreonine, by GSK3-beta and PLK3. /evidence=ECO:0000269|PubMed:20940307; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 370 /site_type="phosphorylation" /note="Phosphoserine, by CK2 and PLK3. /evidence=ECO:0000269|PubMed:20940307; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 380 /site_type="phosphorylation" /note="Phosphoserine, by ROCK1. /evidence=ECO:0000269|PubMed:20008297, ECO:0000269|PubMed:33428810; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 382 /site_type="phosphorylation" /note="Phosphothreonine, by ROCK1. /evidence=ECO:0000269|PubMed:20008297, ECO:0000269|PubMed:33428810; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 383 /site_type="phosphorylation" /note="Phosphothreonine, by ROCK1. /evidence=ECO:0000269|PubMed:20008297, ECO:0000269|PubMed:33428810; propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 385 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O08586.1)" Region 401..403 /region_name="PDZ domain-binding. /evidence=ECO:0000305|PubMed:33428810" /note="propagated from UniProtKB/Swiss-Prot (O08586.1)" Site 401 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P60484; propagated from UniProtKB/Swiss-Prot (O08586.1)" CDS 1..403 /gene="Pten" /gene_synonym="2310035O07Rik; A130070J02Rik; B430203M17Rik; MMAC1; PTENbeta; TEP1" /coded_by="NM_008960.2:869..2080" /db_xref="CCDS:CCDS29753.1" /db_xref="GeneID:19211" /db_xref="MGI:MGI:109583" ORIGIN 1 mtaiikeivs rnkrryqedg fdldltyiyp niiamgfpae rlegvyrnni ddvvrfldsk 61 hknhykiynl caerhydtak fncrvaqypf edhnppqlel ikpfcedldq wlseddnhva 121 aihckagkgr tgvmicayll hrgkflkaqe aldfygevrt rdkkgvtips qrryvyyysy 181 llknhldyrp vallfhkmmf etipmfsggt cnpqfvvcql kvkiyssnsg ptrredkfmy 241 fefpqplpvc gdikveffhk qnkmlkkdkm fhfwvntffi pgpeetsekv engslcdqei 301 dsicsierad ndkeylvltl tkndldkank dkanryfspn fkvklyftkt veepsnpeas 361 sstsvtpdvs dnepdhyrys dttdsdpene pfdedqhsqi tkv // LOCUS NP_001277746 301 aa linear ROD 09-OCT-2023 DEFINITION SPARC isoform 2 precursor [Mus musculus]. ACCESSION NP_001277746 XP_006532730 VERSION NP_001277746.1 DBSOURCE REFSEQ: accession NM_001290817.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 301) AUTHORS Ryu S, Spadaro O, Sidorov S, Lee AH, Caprio S, Morrison C, Smith SR, Ravussin E, Shchukina I, Artyomov MN, Youm YH and Dixit VD. TITLE Reduction of SPARC protects mice against NLRP3 inflammasome activation and obesity JOURNAL J Clin Invest 133 (19), e169173 (2023) PUBMED 37781916 REMARK GeneRIF: Reduction of SPARC protects mice against NLRP3 inflammasome activation and obesity. Publication Status: Online-Only REFERENCE 2 (residues 1 to 301) AUTHORS Pina JO, Raju R, Roth DM, Winchester EW, Chattaraj P, Kidwai F, Faucz FR, Iben J, Mitra A, Campbell K, Fridell G, Esnault C, Cotney JL, Dale RK and D'Souza RN. TITLE Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis JOURNAL Nat Commun 14 (1), 5687 (2023) PUBMED 37709732 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 301) AUTHORS Feldt J, Garriz A, Rodriguez Benavente MC, Woodward AM, Zoukhri D and Argueso P. TITLE The Matricellular Protein SPARC Decreases in the Lacrimal Gland At Adulthood and During Inflammation JOURNAL Invest Ophthalmol Vis Sci 63 (13), 8 (2022) PUBMED 36479944 REMARK GeneRIF: The Matricellular Protein SPARC Decreases in the Lacrimal Gland At Adulthood and During Inflammation. REFERENCE 4 (residues 1 to 301) AUTHORS Mathes S, Fahrner A, Luca E and Krutzfeldt J. TITLE Growth hormone/IGF-I-dependent signaling restores decreased expression of the myokine SPARC in aged skeletal muscle JOURNAL J Mol Med (Berl) 100 (11), 1647-1658 (2022) PUBMED 36178526 REMARK GeneRIF: Growth hormone/IGF-I-dependent signaling restores decreased expression of the myokine SPARC in aged skeletal muscle. REFERENCE 5 (residues 1 to 301) AUTHORS Ryu S, Sidorov S, Ravussin E, Artyomov M, Iwasaki A, Wang A and Dixit VD. TITLE The matricellular protein SPARC induces inflammatory interferon-response in macrophages during aging JOURNAL Immunity 55 (9), 1609-1626 (2022) PUBMED 35963236 REFERENCE 6 (residues 1 to 301) AUTHORS Baron B, Poirier C, Simon-Chazottes D, Barnier C and Guenet JL. TITLE A new strategy useful for rapid identification of microsatellites from DNA libraries with large size inserts JOURNAL Nucleic Acids Res 20 (14), 3665-3669 (1992) PUBMED 1386425 REFERENCE 7 (residues 1 to 301) AUTHORS Bloom ML, Lee BK, Birkenmeier CS, Ma Y, Zimmer WE, Goodman SR, Eicher EM and Barker JE. TITLE Brain beta spectrin isoform 235 (Spnb-2) maps to mouse chromosome 11 JOURNAL Mamm Genome 3 (5), 293-295 (1992) PUBMED 1638088 REFERENCE 8 (residues 1 to 301) AUTHORS Le Roy H, Simon-Chazottes D, Montagutelli X and Guenet JL. TITLE A set of anonymous DNA clones as markers for mouse gene mapping JOURNAL Mamm Genome 3 (4), 244-246 (1992) PUBMED 1351769 REFERENCE 9 (residues 1 to 301) AUTHORS Baldacci PA, Richoux V, Renard JP, Guenet JL and Babinet C. TITLE The locus Om, responsible for the DDK syndrome, maps close to Sigje on mouse chromosome 11 JOURNAL Mamm Genome 2 (2), 100-105 (1992) PUBMED 1347470 REFERENCE 10 (residues 1 to 301) AUTHORS Buckwalter MS, Katz RW and Camper SA. TITLE Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backcross JOURNAL Genomics 10 (3), 515-526 (1991) PUBMED 1889803 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY781653.1, BB857564.1, AK148670.1, AK161229.1, AA798908.1, CJ132527.1 and BE655213.1. On Mar 20, 2014 this sequence version replaced XP_006532730.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.62997.1, AK148670.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164133 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..301 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 33.04 cM" Protein 1..301 /product="SPARC isoform 2 precursor" /note="basement-membrane protein 40; secreted protein acidic and rich in cysteine; osteonectin" /calculated_mol_wt=32388 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1952 Region 69..150 /region_name="FSL_SPARC" /note="Follistatin-like SPARC (secreted protein, acidic, and rich in cysteines) domain; SPARC/BM-40/osteonectin is a multifunctional glycoprotein which modulates cellular interaction with the extracellular matrix by its binding to structural matrix proteins...; cd01328" /db_xref="CDD:238649" Site 114 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238649" Site 114 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000305|PubMed:3427055; propagated from UniProtKB/Swiss-Prot (P07214.1)" Region 153..292 /region_name="EFh_SPARC_SPARC" /note="EF-hand, extracellular calcium-binding (EC) motif, found in secreted protein acidic and rich in cysteine (SPARC); cd16235" /db_xref="CDD:320014" Site order(160..161,164..165,167..168,171..172,175,179,257, 260..261) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:320014" Region 225..258 /region_name="EF-hand motif" /note="EF-hand motif [structural motif]" /db_xref="CDD:320014" Site order(237,242,249,272,274,276,283) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:320014" Site order(247..248,262) /site_type="other" /note="EC/FS-domain interface" /db_xref="CDD:320014" Region 260..292 /region_name="EF-hand motif" /note="EF-hand motif [structural motif]" /db_xref="CDD:320014" CDS 1..301 /gene="Sparc" /gene_synonym="BM-40; ON" /coded_by="NM_001290817.1:307..1212" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS70189.1" /db_xref="GeneID:20692" /db_xref="MGI:MGI:98373" ORIGIN 1 mrawiffllc lagralaapq tevaeeivee etvveetgvp vganpvqvem gefedgaeet 61 veevvadnpc qnhhckhgkv celdesntpm cvcqdptscp apigefekvc sndnktfdss 121 chffatkctl egtkkghklh ldyigpckyi apcldselte fplrmrdwlk nvlvtlyerd 181 egnnlltekq klrvkkihen ekrleagdhp vellardfek nynmyifpvh wqfgqldqhp 241 idgylshtel aplraplipm ehcttrffet cdldndkyia leewagcfgi keqdinkdlv 301 i // LOCUS NP_001240685 179 aa linear ROD 09-OCT-2023 DEFINITION neuronal membrane glycoprotein M6-a isoform 3 [Mus musculus]. ACCESSION NP_001240685 VERSION NP_001240685.1 DBSOURCE REFSEQ: accession NM_001253756.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 179) AUTHORS Li L, Sun Y, Davis AE, Shah SH, Hamed LK, Wu MR, Lin CH, Ding JB and Wang S. TITLE Mettl14-mediated m6A modification ensures the cell-cycle progression of late-born retinal progenitor cells JOURNAL Cell Rep 42 (6), 112596 (2023) PUBMED 37269288 REMARK GeneRIF: Mettl14-mediated m[6]A modification ensures the cell-cycle progression of late-born retinal progenitor cells. REFERENCE 2 (residues 1 to 179) AUTHORS Xie W, Zhang A, Huang X, Zhou H, Ying H, Ye C, Ren M, Qian M, Liu X and Mo Y. TITLE SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION JOURNAL Shock 59 (5), 791-802 (2023) PUBMED 36877222 REMARK GeneRIF: SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION. REFERENCE 3 (residues 1 to 179) AUTHORS Xue A, Huang Y, Li M, Wei Q and Bu Q. TITLE Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice JOURNAL Mol Neurobiol 58 (8), 3759-3768 (2021) PUBMED 33826069 REMARK GeneRIF: Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice. REFERENCE 4 (residues 1 to 179) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 179) AUTHORS Ogawa T, Li Y, Lua I, Hartner A and Asahina K. TITLE Isolation of a unique hepatic stellate cell population expressing integrin alpha8 from embryonic mouse livers JOURNAL Dev Dyn 247 (6), 867-881 (2018) PUBMED 29665133 REFERENCE 6 (residues 1 to 179) AUTHORS Yan Y, Narayanan V and Lagenaur C. TITLE Expression of members of the proteolipid protein gene family in the developing murine central nervous system JOURNAL J Comp Neurol 370 (4), 465-478 (1996) PUBMED 8807448 REFERENCE 7 (residues 1 to 179) AUTHORS Olinsky S, Loop BT, DeKosky A, Ripepi B, Weng W, Cummins J, Wenger SL, Yan Y, Lagenaur C and Narayanan V. TITLE Chromosomal mapping of the human M6 genes JOURNAL Genomics 33 (3), 532-536 (1996) PUBMED 8661015 REFERENCE 8 (residues 1 to 179) AUTHORS Shimizu F, Watanabe TK, Fujiwara T, Takahashi E, Nakamura Y and Maekawa H. TITLE Isolation and mapping of the human glycoprotein M6 gene (GPM6A) to 4q33-->q34 JOURNAL Cytogenet Cell Genet 74 (1-2), 138-139 (1996) PUBMED 8893821 REFERENCE 9 (residues 1 to 179) AUTHORS Yan Y, Lagenaur C and Narayanan V. TITLE Molecular cloning of M6: identification of a PLP/DM20 gene family JOURNAL Neuron 11 (3), 423-431 (1993) PUBMED 8398137 REFERENCE 10 (residues 1 to 179) AUTHORS Baumrind NL, Parkinson D, Wayne DB, Heuser JE and Pearlman AL. TITLE EMA: a developmentally regulated cell-surface glycoprotein of CNS neurons that is concentrated at the leading edge of growth cones JOURNAL Dev Dyn 194 (4), 311-325 (1992) PUBMED 1286213 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY247392.1, AK081877.1, CD354193.1 and BC033357.1. Transcript Variant: This variant (3) has a different segment in its 5' UTR and lacks an alternate exon in the 5' coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CD354193.1, SRR11927938.2687994.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..179 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 29.33 cM" Protein 1..179 /product="neuronal membrane glycoprotein M6-a isoform 3" /note="neuronal membrane glycoprotein M6-a" /calculated_mol_wt=20268 Region <1..148 /region_name="Myelin_PLP" /note="Myelin proteolipid protein (PLP or lipophilin); cl02417" /db_xref="CDD:445775" CDS 1..179 /gene="Gpm6a" /gene_synonym="Gpm6; M6A" /coded_by="NM_001253756.1:656..1195" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:234267" /db_xref="MGI:MGI:107671" ORIGIN 1 mvegffttga ikdlygdfki ttcgrcvsaw fimltylfml awlgvtafts lpvymyfnvw 61 ticrnttlve ganlcldlrq fgivtigeek kictasenfl rmcestelnm tfhlfivala 121 gagaaviamv hylmvlsanw ayvkdacrmq kyedikskee qelhdihstr skerlnayt // LOCUS NP_034561 836 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 2 [Mus musculus]. ACCESSION NP_034561 VERSION NP_034561.2 DBSOURCE REFSEQ: accession NM_010431.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 836) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 836) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 836) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 836) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 836) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 836) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 836) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 836) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 836) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 836) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Apr 1, 2009 this sequence version replaced NP_034561.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150367.1, BC026139.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..836 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..836 /product="hypoxia-inducible factor 1-alpha isoform 2" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=93385 Region 1..401 /region_name="Interaction with TSGA10. /evidence=ECO:0000269|PubMed:16777103" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 1..30 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 13..83 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(18..19,21..23,26..27,29..30,55..56) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Region 21..30 /region_name="DNA-binding. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site order(32..33,35..36,39..40,43..44,55..57,60..61,64,67..68, 71) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 93..148 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 170..191 /region_name="Required for heterodimer formation with ARNT. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 247 /site_type="phosphorylation" /note="Phosphoserine, by CK1. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 254..339 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(255,259,265,278..281,307,312) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(275,279,287,290..291,319,321) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 380..417 /region_name="N-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 401..613 /region_name="ODD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 402 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 492..511 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 544..588 /region_name="NTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 545 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 564..593 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:431874" Site 564 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 568 /site_type="phosphorylation" /note="Phosphothreonine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 569..585 /region_name="C-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 577 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 589..795 /region_name="ID" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 589 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 593..684 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 602 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 668 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 707..734 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 719 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 728..731 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 796..836 /region_name="CTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 799..835 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:430212" Site 813 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" CDS 1..836 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_010431.3:290..2800" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS25977.1" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 megaggenek kkmsserrke ksrdaarsrr skesevfyel ahqlplphnv sshldkasvm 61 rltisylrvr klldagglds edemkaqmdc fylkaldgfv mvltddgdmv yisdnvnkym 121 gltqfeltgh svfdfthpcd heemremlth rngpvrkgke lntqrsfflr mkctltsrgr 181 tmniksatwk vlhctghihv ydtnsnqpqc gykkppmtcl vlicepiphp snieipldsk 241 tflsrhsldm kfsycderit elmgyepeel lgrsiyeyyh aldsdhltkt hhdmftkgqv 301 ttgqyrmlak rggyvwvetq atviyntkns qpqcivcvny vvsgiiqhdl ifslqqtesv 361 lkpvessdmk mtqlftkves edtsclfdkl kkepdaltll apaagdtiis ldfgsddtet 421 edqqledvpl yndvmfpssn eklninlams plpssetpkp lrssadpaln qevalkless 481 peslglsftm pqiqdqpasp sdgstrqssp erllqenvnt pnfsqpnsps eycfdvdsdm 541 vnvfklelve klfaedteak npfstqdtdl dlemlapyip mdddfqlrsf dqlsplesns 601 psppsmstvt gfqqtqlqkp titatattta ttdesktetk dnkedikili aspsstqvpq 661 etttakasay sgthsrtasp dragkrvieq tdkahprsln lsatlnqrnt vpeeelnpkt 721 iasqnaqrkr kmehdgslfq aagigtllqq pgdcaptmsl swkrvkgfis seqngteqkt 781 iilipsdlac rllgqsmdes glpqltsydc evnapiqgsr nllqgeellr aldqvn // LOCUS NP_035617 748 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 4 [Mus musculus]. ACCESSION NP_035617 XP_988970 VERSION NP_035617.1 DBSOURCE REFSEQ: accession NM_011487.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 748) AUTHORS Zhang XL, Hollander CM, Khan MY, D'silva M, Ma H, Yang X, Bai R, Keeter CK, Galkina EV, Nadler JL and Stanton PK. TITLE Myeloid cell deficiency of the inflammatory transcription factor Stat4 protects long-term synaptic plasticity from the effects of a high-fat, high-cholesterol diet JOURNAL Commun Biol 6 (1), 967 (2023) PUBMED 37783748 REMARK GeneRIF: Myeloid cell deficiency of the inflammatory transcription factor Stat4 protects long-term synaptic plasticity from the effects of a high-fat, high-cholesterol diet. Publication Status: Online-Only REFERENCE 2 (residues 1 to 748) AUTHORS Keeter WC, Moriarty AK, Akers R, Ma S, Mussbacher M, Nadler JL and Galkina EV. TITLE Neutrophil-specific STAT4 deficiency attenuates atherosclerotic burden and improves plaque stability via reduction in neutrophil activation and recruitment into aortas of Ldlr-/- mice JOURNAL Front Cardiovasc Med 10, 1175673 (2023) PUBMED 37396582 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 748) AUTHORS Buzzelli AA, McWilliams IL, Shin B, Bryars MT and Harrington LE. TITLE Intrinsic STAT4 Expression Controls Effector CD4 T Cell Migration and Th17 Pathogenicity JOURNAL J Immunol 210 (11), 1667-1676 (2023) PUBMED 37093664 REFERENCE 4 (residues 1 to 748) AUTHORS Hildreth AD, Padilla ET, Tafti RY, Legala AR and O'Sullivan TE. TITLE Sterile liver injury induces a protective tissue-resident cDC1-ILC1 circuit through cDC1-intrinsic cGAS-STING-dependent IL-12 production JOURNAL Cell Rep 42 (2), 112141 (2023) PUBMED 36807146 REFERENCE 5 (residues 1 to 748) AUTHORS Liang Y, Pan HF and Ye DQ. TITLE Therapeutic potential of STAT4 in autoimmunity JOURNAL Expert Opin Ther Targets 18 (8), 945-960 (2014) PUBMED 24844303 REMARK Review article REFERENCE 6 (residues 1 to 748) AUTHORS Wang Y, Feng D, Wang H, Xu MJ, Park O, Li Y and Gao B. TITLE STAT4 knockout mice are more susceptible to concanavalin A-induced T-cell hepatitis JOURNAL Am J Pathol 184 (6), 1785-1794 (2014) PUBMED 24731448 REFERENCE 7 (residues 1 to 748) AUTHORS Copeland NG, Gilbert DJ, Schindler C, Zhong Z, Wen Z, Darnell JE Jr, Mui AL, Miyajima A, Quelle FW, Ihle JN et al. TITLE Distribution of the mammalian Stat gene family in mouse chromosomes JOURNAL Genomics 29 (1), 225-228 (1995) PUBMED 8530075 REFERENCE 8 (residues 1 to 748) AUTHORS Yamamoto K, Quelle FW, Thierfelder WE, Kreider BL, Gilbert DJ, Jenkins NA, Copeland NG, Silvennoinen O and Ihle JN. TITLE Stat4, a novel gamma interferon activation site-binding protein expressed in early myeloid differentiation JOURNAL Mol Cell Biol 14 (7), 4342-4349 (1994) PUBMED 8007943 REFERENCE 9 (residues 1 to 748) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 REFERENCE 10 (residues 1 to 748) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3: a STAT family member activated by tyrosine phosphorylation in response to epidermal growth factor and interleukin-6 JOURNAL Science 264 (5155), 95-98 (1994) PUBMED 8140422 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BY097735.1, AC108840.13, BY750146.1, AK132675.1 and BF020635.1. On May 4, 2006 this sequence version replaced XP_988970.1. Summary: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. Homozygous knockout mice for this gene exhibit reduced inflammation and cytokine production in response to immune challenge. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U09351.1, BC098499.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..748 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.67 cM" Protein 1..748 /product="signal transducer and activator of transcription 4" /calculated_mol_wt=85723 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Region 140..312 /region_name="STAT4_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4); cd16854" /db_xref="CDD:341079" Site order(141..164,208..234,258..279) /site_type="other" /note="coiled-coil motif" /db_xref="CDD:341079" Region 316..473 /region_name="STAT4_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4); cd16848" /db_xref="CDD:341086" Region 553..700 /region_name="SH2_STAT4" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins; cd10375" /db_xref="CDD:198238" Site order(580,598,624,626) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198238" Site order(625,641) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198238" Site order(635..636,698) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198238" Site 667 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" Site 693 /site_type="phosphorylation" /note="Phosphotyrosine, by JAK. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" Site 721 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" CDS 1..748 /gene="Stat4" /coded_by="NM_011487.5:491..2737" /db_xref="CCDS:CCDS14943.1" /db_xref="GeneID:20849" /db_xref="MGI:MGI:103062" ORIGIN 1 msqwnqvqql eikfleqvdq fyddnfpmei rhllaqwiet qdwevasnne tmatillqnl 61 liqldeqlgr vskeknllli hnlkrirkvl qgkfhgnpmh vavvisnclr eerrilaaan 121 mpiqgpleks lqsssvserq rnvehkvsai knsvqmteqd tkyledlqde fdyryktiqt 181 mdqgdknsil vnqevltlqe mlnsldfkrk ealskmtqiv netdllmnsm lleelqdwkk 241 rqqiaciggp lhngldqlqn cftllaeslf qlrqqleklq eqstkmtyeg dpipaqrahl 301 leratfliyn lfknsfvver qpcmpthpqr pmvlktliqf tvklrllikl pelnyqvkvk 361 asidknvstl snrrfvlcgt hvkamssees sngslsvefr hlqpkemkcs tgskgnegch 421 mvteelhsit fetqiclygl tinletsslp vvmisnvsql pnawasiiwy nvstndsqnl 481 vffnnppsvt lgqllevmsw qfssyvgrgl nseqlnmlae kltvqsnynd ghltwakfck 541 ehlpgktftf wtwleaildl ikkhilplwi dgyimgfvsk ekerlllkdk mpgtfllrfs 601 eshlggitft wvdqsengev rfhsvepynk grlsalpfad ilrdykvima enipenplky 661 lypdipkdka fgkhyssqpc evsrptergd kgyvpsvfip istirsdste pqspsdllpm 721 spsayavlre nlspttieta mnspysae // LOCUS NP_001077404 591 aa linear ROD 09-OCT-2023 DEFINITION parathyroid hormone/parathyroid hormone-related peptide receptor precursor [Mus musculus]. ACCESSION NP_001077404 VERSION NP_001077404.1 DBSOURCE REFSEQ: accession NM_001083935.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 591) AUTHORS Amano K, Kitaoka Y, Kato S, Fujiwara M, Okuzaki D, Aikawa T, Kogo M and Iida S. TITLE Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis JOURNAL J Dent Res 102 (11), 1241-1251 (2023) PUBMED 37575041 REMARK GeneRIF: Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis. REFERENCE 2 (residues 1 to 591) AUTHORS Liu H, Wada A, Le I, Le PT, Lee AWF, Zhou J, Gori F, Baron R and Rosen CJ. TITLE PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner JOURNAL Elife 12, e83345 (2023) PUBMED 37159501 REMARK GeneRIF: PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner. Publication Status: Online-Only REFERENCE 3 (residues 1 to 591) AUTHORS Chu TL, Chen P, Yu AX, Kong M, Tan Z, Tsang KY, Zhou Z and Cheah KSE. TITLE MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism JOURNAL Elife 12, e82142 (2023) PUBMED 36892459 REMARK GeneRIF: MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism. Publication Status: Online-Only REFERENCE 4 (residues 1 to 591) AUTHORS Wang F, Rummukainen P, Pehkonen M, Saamanen AM, Heino TJ and Kiviranta R. TITLE Mesenchymal cell-derived Wnt1 signaling regulates subchondral bone remodeling but has no effects on the development of growth plate or articular cartilage in mice JOURNAL Bone 163, 116497 (2022) PUBMED 35863746 REFERENCE 5 (residues 1 to 591) AUTHORS Kimura T, Panaroni C, Rankin EB, Purton LE and Wu JY. TITLE Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow JOURNAL J Bone Miner Res 37 (7), 1321-1334 (2022) PUBMED 35490308 REMARK GeneRIF: Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow. REFERENCE 6 (residues 1 to 591) AUTHORS McCuaig KA, Lee HS, Clarke JC, Assar H, Horsford J and White JH. TITLE Parathyroid hormone/parathyroid hormone related peptide receptor gene transcripts are expressed from tissue-specific and ubiquitous promoters JOURNAL Nucleic Acids Res 23 (11), 1948-1955 (1995) PUBMED 7596823 REMARK Erratum:[Nucleic Acids Res 1995 Aug 11;23(15):3082] REFERENCE 7 (residues 1 to 591) AUTHORS Karperien M, van Dijk TB, Hoeijmakers T, Cremers F, Abou-Samra AB, Boonstra J, de Laat SW and Defize LH. TITLE Expression pattern of parathyroid hormone/parathyroid hormone related peptide receptor mRNA in mouse postimplantation embryos indicates involvement in multiple developmental processes JOURNAL Mech Dev 47 (1), 29-42 (1994) PUBMED 7524627 REFERENCE 8 (residues 1 to 591) AUTHORS Kong XF, Schipani E, Lanske B, Joun H, Karperien M, Defize LH, Juppner H, Potts JT Jr, Segre GV, Kronenberg HM et al. TITLE The rat, mouse and human genes encoding the receptor for parathyroid hormone and parathyroid hormone-related peptide are highly homologous JOURNAL Biochem Biophys Res Commun 200 (3), 1290-1299 (1994) PUBMED 8185578 REMARK Erratum:[Biochem Biophys Res Commun. 1994 Jun 15;201(2):1058. PMID: 8002976] REFERENCE 9 (residues 1 to 591) AUTHORS Pausova Z, Bourdon J, Clayton D, Mattei MG, Seldin MF, Janicic N, Riviere M, Szpirer J, Levan G, Szpirer C et al. TITLE Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes JOURNAL Genomics 20 (1), 20-26 (1994) PUBMED 8020952 REFERENCE 10 (residues 1 to 591) AUTHORS Seldin MF, Mattei MG and Hendy GN. TITLE Localization of mouse parathyroid hormone-like peptide gene (Pthlh) to distal chromosome 6 using interspecific backcross mice and in situ hybridization JOURNAL Cytogenet Cell Genet 60 (3-4), 252-254 (1992) PUBMED 1354597 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC139378.4, CB192926.1, BC051981.1 and AI607947.1. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X78936.1, SRR7974084.4357.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..591 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 60.56 cM" Protein 1..591 /product="parathyroid hormone/parathyroid hormone-related peptide receptor precursor" /note="parathyroid hormone receptor 1; parathyroid hormone/parathyroid hormone-related peptide receptor; PTH1 receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH-related peptide receptor; PTH/PTHrP receptor" /calculated_mol_wt=63570 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2820 Region 67..104 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 105..170 /region_name="HRM" /note="Hormone receptor domain; pfam02793" /db_xref="CDD:397086" Site 151 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 161 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 176 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 184..476 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Region 187..211 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:410628" Site 189..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 220..241 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Site 220..239 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 282..304 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 283..306 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 321..342 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 323..339 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Region 356..379 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 362..382 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 407..429 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 410..428 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 438..463 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 441..463 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 474..477 /region_name="Important for interaction with G proteins. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" CDS 1..591 /gene="Pth1r" /gene_synonym="PPR; Pthr; Pthr1" /coded_by="NM_001083935.1:278..2053" /db_xref="CCDS:CCDS52940.1" /db_xref="GeneID:19228" /db_xref="MGI:MGI:97801" ORIGIN 1 mgtariapsl alllccpvls sayalvdadd vftkeeqifl lhraqaqcdk llkevlhtaa 61 nimesdkgwt pastsgkprk ekapgkfype skenkdvptg srrrgrpclp ewdnivcwpl 121 gapgevvavp cpdyiydfnh kghayrrcdr ngswevvpgh nrtwanysec lkfmtnetre 181 revfdrlgmi ytvgysmsla sltvavlila yfrrlhctrn yihmhmflsf mlraasifvk 241 davlysgftl deaerlteee lhiiaqvppp paaaavgyag crvavtffly flatnyywil 301 veglylhsli fmaffsekky lwgftifgwg lpavfvavwv gvratlantg cwdlssghkk 361 wiiqvpilas vvlnfilfin iirvlatklr etnagrcdtr qqyrkllrst lvlvplfgvh 421 ytvfmalpyt evsgtlwqiq mhyemlfnsf qgffvaiiyc fcngevqaei rkswsrwtla 481 ldfkrkarsg sssysygpmv shtsvtnvgp raglslplsp rllpattngh sqlpghakpg 541 apaienetip vtmtvpkddg flngscsgld eeasgsarpp pllqeewetv m // LOCUS NP_001193311 333 aa linear ROD 09-OCT-2023 DEFINITION mitochondrial antiviral-signaling protein isoform 2 [Mus musculus]. ACCESSION NP_001193311 VERSION NP_001193311.1 DBSOURCE REFSEQ: accession NM_001206382.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 333) AUTHORS Liu F, Zhuang W, Song B, Yang Y, Liu J, Zheng Y, Liu B, Zheng J, Zhao W and Gao C. TITLE MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade JOURNAL Cell Mol Immunol 20 (10), 1186-1202 (2023) PUBMED 37582970 REMARK GeneRIF: MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade. REFERENCE 2 (residues 1 to 333) AUTHORS Ingle H, Makimaa H, Aggarwal S, Deng H, Foster L, Li Y, Kennedy EA, Peterson ST, Wilen CB, Lee S, Suthar MS and Baldridge MT. TITLE IFN-lambda derived from nonsusceptible enterocytes acts on tuft cells to limit persistent norovirus JOURNAL Sci Adv 9 (37), eadi2562 (2023) PUBMED 37703370 REFERENCE 3 (residues 1 to 333) AUTHORS He QQ, Huang Y, Nie L, Ren S, Xu G, Deng F, Cheng Z, Zuo Q, Zhang L, Cai H, Wang Q, Wang F, Ren H, Yan H, Xu K, Zhou L, Lu M, Lu Z, Zhu Y and Liu S. TITLE MAVS integrates glucose metabolism and RIG-I-like receptor signaling JOURNAL Nat Commun 14 (1), 5343 (2023) PUBMED 37660168 REMARK GeneRIF: MAVS integrates glucose metabolism and RIG-I-like receptor signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 333) AUTHORS Li J, Zhang R, Wang C, Zhu J, Ren M, Jiang Y, Hou X, Du Y, Wu Q, Qi S, Li L, Chen S, Yang H and Hou F. TITLE WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response JOURNAL Nat Commun 14 (1), 4824 (2023) PUBMED 37563140 REMARK GeneRIF: WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response. Erratum:[Nat Commun. 2023 Sep 25;14(1):5960. PMID: 37749076] Publication Status: Online-Only REFERENCE 5 (residues 1 to 333) AUTHORS Wang H, Sun W, Traba J, Wu J, Qi CF, Amo L, Kole HK, Scott B, Singh K, Sack MN and Bolland S. TITLE MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells JOURNAL Immunohorizons 7 (8), 587-599 (2023) PUBMED 37610299 REMARK GeneRIF: MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells. REFERENCE 6 (residues 1 to 333) AUTHORS Kumar H, Kawai T, Kato H, Sato S, Takahashi K, Coban C, Yamamoto M, Uematsu S, Ishii KJ, Takeuchi O and Akira S. TITLE Essential role of IPS-1 in innate immune responses against RNA viruses JOURNAL J Exp Med 203 (7), 1795-1803 (2006) PUBMED 16785313 REMARK GeneRIF: IPS-1 is the sole adapter in both retinoic acid-inducible gene (RIG-I) and melanoma differentiation-associated gene 5 (Mda5) signaling that mediates effective responses against a variety of RNA viruses. REFERENCE 7 (residues 1 to 333) AUTHORS Sun Q, Sun L, Liu HH, Chen X, Seth RB, Forman J and Chen ZJ. TITLE The specific and essential role of MAVS in antiviral innate immune responses JOURNAL Immunity 24 (5), 633-642 (2006) PUBMED 16713980 REFERENCE 8 (residues 1 to 333) AUTHORS Meylan E, Curran J, Hofmann K, Moradpour D, Binder M, Bartenschlager R and Tschopp J. TITLE Cardif is an adaptor protein in the RIG-I antiviral pathway and is targeted by hepatitis C virus JOURNAL Nature 437 (7062), 1167-1172 (2005) PUBMED 16177806 REFERENCE 9 (residues 1 to 333) AUTHORS Xu LG, Wang YY, Han KJ, Li LY, Zhai Z and Shu HB. TITLE VISA is an adapter protein required for virus-triggered IFN-beta signaling JOURNAL Mol Cell 19 (6), 727-740 (2005) PUBMED 16153868 REMARK GeneRIF: Data suggest that VISA is critically involved in both virus-triggered TLR3-independent and TLR3-mediated antiviral interferon signaling. REFERENCE 10 (residues 1 to 333) AUTHORS Seth RB, Sun L, Ea CK and Chen ZJ. TITLE Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-kappaB and IRF 3 JOURNAL Cell 122 (5), 669-682 (2005) PUBMED 16125763 REMARK GeneRIF: The overexpression of mitochondrial antiviral signaling(MAVS)induces the expression of IFN-beta through activation of NF-kappaB and IRF 3, thus boosting antiviral immunity. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK153748.1 and AL808128.4. Transcript Variant: This variant (3) differs in the 5' UTR, and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK153748.1, SRR9219380.27689.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16125763; reported by MitoCarta ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..333 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.3 cM" Protein 1..333 /product="mitochondrial antiviral-signaling protein isoform 2" /note="IFN-beta promoter stimulator-1; mitochondrial anti-viral signaling protein; virus-induced signaling adapter; CARD adapter inducing interferon beta; interferon beta promoter stimulator protein 1" /calculated_mol_wt=34258 CDS 1..333 /gene="Mavs" /gene_synonym="cardif; D430028G21Rik; IPS-1; Visa" /coded_by="NM_001206382.1:725..1726" /note="isoform 2 is encoded by transcript variant 3" /db_xref="GeneID:228607" /db_xref="MGI:MGI:2444773" ORIGIN 1 msggslipsp nqqalspqps rehqeqepel ggahaanvas vpiatygpvs ptvsfqplpr 61 talrtnllsg vtvsalsadt slsssstgsa fakgagdqak aatcfsttlt nsvttssvps 121 prlvpvktms sklplsskst aamtstvltn tapsklpsns vyagtvpsrv pasvakapan 181 tippernskq aketpegpat kvttggnqtg pnssirslhs gpemskpgvl vsqldepfsa 241 csvdlaisps sslvsepnhg peeneyssfr iqvdespsad llgspeplat qqpqeeeehc 301 assmpwakwl gatsallavf lavmlyrsrr laq // LOCUS NP_001259026 134 aa linear ROD 09-OCT-2023 DEFINITION fatty acid-binding protein 5 isoform 2 [Mus musculus]. ACCESSION NP_001259026 VERSION NP_001259026.1 DBSOURCE REFSEQ: accession NM_001272097.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 134) AUTHORS Penman SL, Roeder NM, Berthold EC, Senetra AS, Marion M, Richardson BJ, White O, Fearby NL, McCurdy CR, Hamilton J, Sharma A and Thanos PK. TITLE FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice JOURNAL Pharmacol Biochem Behav 231, 173633 (2023) PUBMED 37716413 REMARK GeneRIF: FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice. REFERENCE 2 (residues 1 to 134) AUTHORS Chen Z, He C, Gao Z, Li Y, He Q, Wang Y and Cai C. TITLE Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5 JOURNAL ESC Heart Fail 10 (3), 1677-1688 (2023) PUBMED 36788730 REMARK GeneRIF: Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5. REFERENCE 3 (residues 1 to 134) AUTHORS Guo Q, Kawahata I, Cheng A, Wang H, Jia W, Yoshino H and Fukunaga K. TITLE Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons JOURNAL Redox Biol 59, 102547 (2023) PUBMED 36481733 REMARK GeneRIF: Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons. REFERENCE 4 (residues 1 to 134) AUTHORS Reynolds JM, Liu Q, Brittingham KC, Liu Y, Gruenthal M, Gorgun CZ, Hotamisligil GS, Stout RD and Suttles J. TITLE Deficiency of fatty acid-binding proteins in mice confers protection from development of experimental autoimmune encephalomyelitis JOURNAL J Immunol 179 (1), 313-321 (2007) PUBMED 17579051 REMARK GeneRIF: Metabolic-inflammatory pathway cross-regulation by epidermal-type FABP contributes to adaptive immune responses and subsequent autoimmune inflammation. REFERENCE 5 (residues 1 to 134) AUTHORS Maeda K, Cao H, Kono K, Gorgun CZ, Furuhashi M, Uysal KT, Cao Q, Atsumi G, Malone H, Krishnan B, Minokoshi Y, Kahn BB, Parker RA and Hotamisligil GS. TITLE Adipocyte/macrophage fatty acid binding proteins control integrated metabolic responses in obesity and diabetes JOURNAL Cell Metab 1 (2), 107-119 (2005) PUBMED 16054052 REFERENCE 6 (residues 1 to 134) AUTHORS Owada Y, Suzuki R, Iwasa H, Spener F and Kondo H. TITLE Localization of epidermal-type fatty acid binding protein in the thymic epithelial cells of mice JOURNAL Histochem Cell Biol 117 (1), 55-60 (2002) PUBMED 11819097 REFERENCE 7 (residues 1 to 134) AUTHORS Yanase H, Shimizu H, Kanda T, Fujii H and Iwanaga T. TITLE Cellular localization of the diazepam binding inhibitor (DBI) in the gastrointestinal tract of mice and its coexistence with the fatty acid binding protein (FABP) JOURNAL Arch Histol Cytol 64 (4), 449-460 (2001) PUBMED 11757913 REFERENCE 8 (residues 1 to 134) AUTHORS Hertzel AV and Bernlohr DA. TITLE Cloning and chromosomal location of the murine keratinocyte lipid-binding protein gene JOURNAL Gene 221 (2), 235-243 (1998) PUBMED 9795232 REFERENCE 9 (residues 1 to 134) AUTHORS Bleck B, Hohoff C, Binas B, Rustow B, Dixkens C, Hameister H, Borchers T and Spener F. TITLE Cloning and chromosomal localisation of the murine epidermal-type fatty acid binding protein gene (Fabpe) JOURNAL Gene 215 (1), 123-130 (1998) PUBMED 9666100 REFERENCE 10 (residues 1 to 134) AUTHORS Krieg P, Feil S, Furstenberger G and Bowden GT. TITLE Tumor-specific overexpression of a novel keratinocyte lipid-binding protein. Identification and characterization of a cloned sequence activated during multistage carcinogenesis in mouse skin JOURNAL J Biol Chem 268 (23), 17362-17369 (1993) PUBMED 8349619 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC157379.7. Summary: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. In humans this gene has been associated with psoriasis and type 2 diabetes. In mouse deficiency of this gene in combination with a deficiency in Fabp4 confers protection against atherosclerosis, diet-induced obesity, insulin resistance and experimental autoimmune encephalomyelitis (the mouse model for multiple sclerosis). Alternative splicing results in multiple transcript variants that encode different protein isoforms. The mouse genome contains many pseudogenes similar to this locus. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (by one amino acid; isoform 2), compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AV451451.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164133 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..134 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 2.47 cM" Protein 1..134 /product="fatty acid-binding protein 5 isoform 2" /note="fatty acid-binding protein, epidermal; epithelial fatty acid-binding protein; keratinocyte lipid-binding protein; epidermal-type fatty acid-binding protein; psoriasis-associated fatty acid-binding protein homolog" /calculated_mol_wt=14877 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:Q01469; propagated from UniProtKB/Swiss-Prot (Q05816.3)" Site 3 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55053; propagated from UniProtKB/Swiss-Prot (Q05816.3)" Region 6..132 /region_name="FABP5" /note="fatty acid binding protein 5; cd19468" /db_xref="CDD:381243" Site order(7,19,22..23,26,28,32..33,35..36,39,41,43,45,52,54, 56,58,60..61,63..65,67,75..79,81,94,96,107,109,116,118, 119,128,130) /site_type="other" /note="ligand binding cavity [chemical binding]" /db_xref="CDD:381243" Site order(22..23,26,32,36,41,56,60..61,78..79,107,118,119,128, 130) /site_type="other" /note="endocannabinoid binding site [chemical binding]" /db_xref="CDD:381243" Region 24..34 /region_name="Nuclear localization signal. /evidence=ECO:0000250|UniProtKB:Q01469" /note="propagated from UniProtKB/Swiss-Prot (Q05816.3)" Site 130 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q01469; propagated from UniProtKB/Swiss-Prot (Q05816.3)" CDS 1..134 /gene="Fabp5" /gene_synonym="E-FABP; Fabpe; Klbp; mal1; PA-FABP" /coded_by="NM_001272097.1:56..460" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:16592" /db_xref="MGI:MGI:101790" ORIGIN 1 maslkdlegk wrlmeshgfe eymkelgvgl alrkmaamak pdciitcdgn nitvktestv 61 kttvfscnlg ekfdettadg rktetvctfq dgalvqhqqw dgkestitrk lkdgkmivcv 121 mnnatctrvy ekvq // LOCUS NP_001394518 390 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 11 [Mus musculus]. ACCESSION NP_001394518 XP_030110378 VERSION NP_001394518.1 DBSOURCE REFSEQ: accession NM_001407589.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 390) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 390) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 390) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 390) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 390) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 390) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 390) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 390) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 390) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 390) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_030110378.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..390 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..390 /product="mitogen-activated protein kinase 10 isoform 11" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=43909 Region 6..324 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(36,80,115,117,136,147,149..152,154,191) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(76,82,91,94,123..127,287..288,290,293) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(132..142,146..154) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..390 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407589.1:226..1398" /note="isoform 11 is encoded by transcript variant 19" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mntwsaayda vldrnvaikk lsrpfqnqth akrayrelvl mkcvnhknii sllnvftpqk 61 tleefqdvyl vmelmdanlc qviqmeldhe rmsyllyqml cgikhlhsag iihrdlkpsn 121 ivvksdctlk ildfglarta gtsfmmtpyv vtryyrapev ilgmgykenv dlwsvgcimg 181 emvkgtvlfp gtdhidqwnk vieqlgtpcp efmkklqptv rnyvenrpky agltfpklfp 241 dslfpadseh nklkasqard llskmlvidp akrisvddal qhpyinvwyd paeveapppq 301 iydkqldere htieewkeli ykevmnseek tkngvvkgqp spsgaavnss eslppsssvn 361 dissmstdqt lasdtdssle asagplgccr // LOCUS NP_034631 403 aa linear ROD 09-OCT-2023 DEFINITION interferon-induced protein with tetratricopeptide repeats 3 [Mus musculus]. ACCESSION NP_034631 VERSION NP_034631.1 DBSOURCE REFSEQ: accession NM_010501.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 403) AUTHORS Lu YJ, Deng YT, Ko HH, Peng HH, Lee HC, Kuo MY and Cheng SJ. TITLE Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3 JOURNAL Cancer Sci 114 (10), 3957-3971 (2023) PUBMED 37496288 REMARK GeneRIF: Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3. REFERENCE 2 (residues 1 to 403) AUTHORS Aditi, Downing SM, Schreiner PA, Kwak YD, Li Y, Shaw TI, Russell HR and McKinnon PJ. TITLE Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair JOURNAL Neuron 109 (24), 3962-3979 (2021) PUBMED 34655526 REFERENCE 3 (residues 1 to 403) AUTHORS Sun J, Zhang Q, Liu X and Shang X. TITLE Downregulation of interferon-induced protein with tetratricopeptide repeats 3 relieves the inflammatory response and myocardial fibrosis of mice with myocardial infarction and improves their cardiac function JOURNAL Exp Anim 70 (4), 522-531 (2021) PUBMED 34234081 REMARK GeneRIF: Downregulation of interferon-induced protein with tetratricopeptide repeats 3 relieves the inflammatory response and myocardial fibrosis of mice with myocardial infarction and improves their cardiac function. REFERENCE 4 (residues 1 to 403) AUTHORS Chai B, Tian D, Zhou M, Tian B, Yuan Y, Sui B, Wang K, Pei J, Huang F, Wu Q, Lv L, Yang Y, Wang C, Fu Z and Zhao L. TITLE Murine Ifit3 restricts the replication of Rabies virus both in vitro and in vivo JOURNAL J Gen Virol 102 (7) (2021) PUBMED 34269675 REMARK GeneRIF: Murine Ifit3 restricts the replication of Rabies virus both in vitro and in vivo. REFERENCE 5 (residues 1 to 403) AUTHORS Uehara R, Cerritelli SM, Hasin N, Sakhuja K, London M, Iranzo J, Chon H, Grinberg A and Crouch RJ. TITLE Two RNase H2 Mutants with Differential rNMP Processing Activity Reveal a Threshold of Ribonucleotide Tolerance for Embryonic Development JOURNAL Cell Rep 25 (5), 1135-1145 (2018) PUBMED 30380406 REFERENCE 6 (residues 1 to 403) AUTHORS Wacher C, Muller M, Hofer MJ, Getts DR, Zabaras R, Ousman SS, Terenzi F, Sen GC, King NJ and Campbell IL. TITLE Coordinated regulation and widespread cellular expression of interferon-stimulated genes (ISG) ISG-49, ISG-54, and ISG-56 in the central nervous system after infection with distinct viruses JOURNAL J Virol 81 (2), 860-871 (2007) PUBMED 17079283 REMARK GeneRIF: Expression increased significantly during LCMV and WNV infection, being widespread and localized predominantly to common as well as distinct neuronal populations in the brain. REFERENCE 7 (residues 1 to 403) AUTHORS Yoshida H, Okabe Y, Kawane K, Fukuyama H and Nagata S. TITLE Lethal anemia caused by interferon-beta produced in mouse embryos carrying undigested DNA JOURNAL Nat Immunol 6 (1), 49-56 (2005) PUBMED 15568025 REFERENCE 8 (residues 1 to 403) AUTHORS Smith JB and Herschman HR. TITLE The glucocorticoid attenuated response genes GARG-16, GARG-39, and GARG-49/IRG2 encode inducible proteins containing multiple tetratricopeptide repeat domains JOURNAL Arch Biochem Biophys 330 (2), 290-300 (1996) PUBMED 8660659 REFERENCE 9 (residues 1 to 403) AUTHORS Smith JB and Herschman HR. TITLE Glucocorticoid-attenuated response genes encode intercellular mediators, including a new C-X-C chemokine JOURNAL J Biol Chem 270 (28), 16756-16765 (1995) PUBMED 7622488 REFERENCE 10 (residues 1 to 403) AUTHORS Lee CG, Demarquoy J, Jackson MJ and O'Brien WE. TITLE Molecular cloning and characterization of a murine LPS-inducible cDNA JOURNAL J Immunol 152 (12), 5758-5767 (1994) PUBMED 8207206 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK153226.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK077459.1, AK153226.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..403 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 29.74 cM" Protein 1..403 /product="interferon-induced protein with tetratricopeptide repeats 3" /note="IRG2; IFIT-3; GARG-49; glucocorticoid-attenuated response gene 49 protein" /calculated_mol_wt=47092 Region 51..126 /region_name="TPR_12" /note="Tetratricopeptide repeat; pfam13424" /db_xref="CDD:315987" Region 51..79 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region <56..>300 /region_name="PEP_TPR_lipo" /note="putative PEP-CTERM system TPR-repeat lipoprotein; TIGR02917" /db_xref="CDD:274350" Region 84..123 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 94..127 /region_name="TPR 1" /note="propagated from UniProtKB/Swiss-Prot (Q64345.1)" Region 136..169 /region_name="TPR 2" /note="propagated from UniProtKB/Swiss-Prot (Q64345.1)" Region 136..164 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(137,140..141,144..145,147,171,174..175,178..179, 181..182,242,245..246,249..250,253) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region 169..202 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 172..206 /region_name="TPR 3" /note="propagated from UniProtKB/Swiss-Prot (Q64345.1)" Region 241..274 /region_name="TPR 4" /note="propagated from UniProtKB/Swiss-Prot (Q64345.1)" Region 241..269 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" CDS 1..403 /gene="Ifit3" /gene_synonym="Ifi49; P49" /coded_by="NM_010501.2:72..1283" /db_xref="CCDS:CCDS29762.1" /db_xref="GeneID:15959" /db_xref="MGI:MGI:1101055" ORIGIN 1 msevnresle ailpqlkchf twnlfregsm sshmedrvcn qvehlnseek atmydllayi 61 khldgeskaa leclgqaedl rksehndqse irrlvtwgny awiyyhmgrl seaqayvdkv 121 rqvcqkfanp ysmecpelec eegwtrlkcg rnerakmcfe kaleekpkdp ecssgmaiam 181 frleekpekq fsvdalkqam elnpqnqylk vllalkllrm geeaegerli kdalgkapnq 241 tdvlqkaaqf ykkkgnldra iellgkalrs tvnnsplysl vmcryreile qlqnkgdads 301 serrqrmael rrltmefmqk tlqrrrspln sysdlidfpe vercyqmvis kespdveeed 361 lyerycnlqe yhrksedlaa lecllqfprn ersiekeevk eqt // LOCUS NP_001351359 129 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 11 precursor [Mus musculus]. ACCESSION NP_001351359 VERSION NP_001351359.1 DBSOURCE REFSEQ: accession NM_001364430.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 129) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 129) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 129) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 129) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 129) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 129) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 129) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 129) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 129) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 129) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AA798243.1, SRR13861889.87879.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849377 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..129 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..129 /product="pro-neuregulin-1, membrane-bound isoform isoform 11 precursor" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=11205 sig_peptide 1..26 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2841 CDS 1..129 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364430.1:39..428" /note="isoform 11 precursor is encoded by transcript variant 11" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 mapapsllhy piivchllff adlttgmsas terpyvsses pirisvsteg antssststs 61 ttgtshlikc aekektfcvn ggecfmvkdl snpsrylckc pneftgdrcq nyvmasfyst 121 stpflslpe // LOCUS NP_001349263 448 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 52 [Mus musculus]. ACCESSION NP_001349263 VERSION NP_001349263.1 DBSOURCE REFSEQ: accession NM_001362334.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 448) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 448) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 448) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 448) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 448) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 448) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 448) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 448) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 448) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 448) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.98055.1, SRR10662772.1704143.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..448 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..448 /product="CUGBP Elav-like family member 4 isoform 52" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=47581 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 56..444 /region_name="ELAV_HUD_SF" /note="ELAV/HuD family splicing factor; TIGR01661" /db_xref="CDD:273741" Region 142..222 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(144,146,148..149,152,171,173,175,183..185,187,217, 219) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" CDS 1..448 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362334.1:531..1877" /note="isoform 52 is encoded by transcript variant 53" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg kdrklfvgml nkqqseddvr rlfeafgnie ectilrgpdg 181 nskgcafvky sshaeaqaai nalhgsqtmp gassslvvkf adtdkertmr rmqqmagqmg 241 mfnpmaipfg aygayaqalm qqqaalmasv aqggylnpma afaaaqmqqm aalnmnglaa 301 apmtptsggs tppgitapav psipspigvn gftglppqan gqpaaeavfa ngihpypaqs 361 ptaadplqqa yagvqqyagp aypaaygqis qafpqpppmi pqqqregfvs fdnpasaqta 421 iqamngfqig mkrlkvqlkr pkdanrpy // LOCUS NP_001394529 178 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 13 [Mus musculus]. ACCESSION NP_001394529 VERSION NP_001394529.1 DBSOURCE REFSEQ: accession NM_001407600.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 178) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 178) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 178) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 178) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 178) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 178) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 178) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 178) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 178) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 178) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC123664.15 and AC137121.9. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK163385.1, BY725991.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..178 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..178 /product="mitogen-activated protein kinase 10 isoform 13" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=20249 Region 6..>169 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" CDS 1..178 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407600.1:226..762" /note="isoform 13 is encoded by transcript variant 23" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mntwsaayda vldrnvaikk lsrpfqnqth akrayrelvl mkcvnhknii sllnvftpqk 61 tleefqdvyl vmelmdanlc qviqmeldhe rmsyllyqml cgikhlhsag iihrdlkpsn 121 ivvksdctlk ildfglarta gtsfmmtpyv vtryyrapev ilgmgykeng rdgsgtsi // LOCUS NP_001157010 288 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1 [Mus musculus]. ACCESSION NP_001157010 VERSION NP_001157010.1 DBSOURCE REFSEQ: accession NM_001163538.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 288) AUTHORS Cai C, Li Z, Zheng Z, Guo Z, Li Q, Deng S, Shi N, Ou Q, Zhou H, Guo Z, Chen Z and Zhu H. TITLE Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response JOURNAL Int J Biol Sci 19 (14), 4657-4671 (2023) PUBMED 37781037 REMARK GeneRIF: Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response. Publication Status: Online-Only REFERENCE 2 (residues 1 to 288) AUTHORS Dai C, Qu B, Peng B, Liu B, Li Y, Niu C, Peng B and Li D. TITLE Phosphoglycerate mutase 5 facilitates mitochondrial dysfunction and neuroinflammation in spinal tissues after spinal cord injury JOURNAL Int Immunopharmacol 116, 109773 (2023) PUBMED 36773566 REMARK GeneRIF: Phosphoglycerate mutase 5 facilitates mitochondrial dysfunction and neuroinflammation in spinal tissues after spinal cord injury. REFERENCE 3 (residues 1 to 288) AUTHORS Li J, Sun X, Yang N, Ni J, Xie H, Guo H, Wang X, Zhou L, Liu J, Chen S, Wang X, Zhang Y, Yu C, Zhang W and Lu L. TITLE Phosphoglycerate mutase 5 initiates inflammation in acute kidney injury by triggering mitochondrial DNA release by dephosphorylating the pro-apoptotic protein Bax JOURNAL Kidney Int 103 (1), 115-133 (2023) PUBMED 36089186 REMARK GeneRIF: Phosphoglycerate mutase 5 initiates inflammation in acute kidney injury by triggering mitochondrial DNA release by dephosphorylating the pro-apoptotic protein Bax. REFERENCE 4 (residues 1 to 288) AUTHORS Denk D, Petrocelli V, Conche C, Drachsler M, Ziegler PK, Braun A, Kress A, Nicolas AM, Mohs K, Becker C, Neurath MF, Farin HF, Buchholz CJ, Andreux PA, Rinsch C and Greten FR. TITLE Expansion of T memory stem cells with superior anti-tumor immunity by Urolithin A-induced mitophagy JOURNAL Immunity 55 (11), 2059-2073 (2022) PUBMED 36351375 REFERENCE 5 (residues 1 to 288) AUTHORS Zhu P, Wang J, Du W, Ren J, Zhang Y, Xie F and Xu G. TITLE NR4A1 Promotes LPS-Induced Acute Lung Injury through Inhibition of Opa1-Mediated Mitochondrial Fusion and Activation of PGAM5-Related Necroptosis JOURNAL Oxid Med Cell Longev 2022, 6638244 (2022) PUBMED 35222801 REMARK GeneRIF: NR4A1 Promotes LPS-Induced Acute Lung Injury through Inhibition of Opa1-Mediated Mitochondrial Fusion and Activation of PGAM5-Related Necroptosis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 288) AUTHORS Kang YJ, Bang BR, Han KH, Hong L, Shim EJ, Ma J, Lerner RA and Otsuka M. TITLE Regulation of NKT cell-mediated immune responses to tumours and liver inflammation by mitochondrial PGAM5-Drp1 signalling JOURNAL Nat Commun 6, 8371 (2015) PUBMED 26381214 REMARK GeneRIF: Results identify a crucial role for RIPK3-PGAM5-Drp1/NFAT signalling in NKT cell activation, and further suggest that RIPK3-PGAM5 signalling may mediate crosstalk between mitochondrial function and immune signalling. Publication Status: Online-Only REFERENCE 7 (residues 1 to 288) AUTHORS Lu W, Karuppagounder SS, Springer DA, Allen MD, Zheng L, Chao B, Zhang Y, Dawson VL, Dawson TM and Lenardo M. TITLE Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder JOURNAL Nat Commun 5, 4930 (2014) PUBMED 25222142 REMARK GeneRIF: Loss of PGAM5 disables PINK1-mediated mitophagy in vitro and leads to dopaminergic neurodegeneration and mild dopamine loss in vivo causing a Parkinson's-like movement disorder. Publication Status: Online-Only REFERENCE 8 (residues 1 to 288) AUTHORS Wilkins JM, McConnell C, Tipton PA and Hannink M. TITLE A conserved motif mediates both multimer formation and allosteric activation of phosphoglycerate mutase 5 JOURNAL J Biol Chem 289 (36), 25137-25148 (2014) PUBMED 25012655 REMARK GeneRIF: Data indicate that phosphoglycerate mutase 5 (PGAM5) contains an N-terminal WDXNWD motif required for multimerization and maximal phosphatase activity. REFERENCE 9 (residues 1 to 288) AUTHORS Wang Z, Jiang H, Chen S, Du F and Wang X. TITLE The mitochondrial phosphatase PGAM5 functions at the convergence point of multiple necrotic death pathways JOURNAL Cell 148 (1-2), 228-243 (2012) PUBMED 22265414 REMARK GeneRIF: Experimental data indicate that the two splice variants of the mitochondrial protein phosphatase PGAM5 are at the convergent point of multiple necrosis pathways. REFERENCE 10 (residues 1 to 288) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY101410.1, BC052179.1 and BY620990.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK146216.1, AK169643.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..288 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 53.43 cM" Protein 1..288 /product="serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1" /EC_number="3.1.3.16" /note="serine/threonine-protein phosphatase PGAM5, mitochondrial" /calculated_mol_wt=31863 Site 7..29 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Region 13..286 /region_name="HP" /note="Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction; cl11399" /db_xref="CDD:448243" Site 24..25 /site_type="cleavage" /note="Cleavage, by PARL. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Region 76..81 /region_name="Interaction with KEAP1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 79 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 86 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site order(103..104,151,229..230) /site_type="active" /note="catalytic core [active]" /db_xref="CDD:132718" Site 115 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 143 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 190 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" CDS 1..288 /gene="Pgam5" /gene_synonym="2610528A17Rik" /coded_by="NM_001163538.1:61..927" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS51606.1" /db_xref="GeneID:72542" /db_xref="MGI:MGI:1919792" ORIGIN 1 mafrqalqla acglaggsaa vlfsavavgk prgggdadtr ateppawtga ragrgvwdtn 61 wdrreplsli nlkkrnvesg edeltsrldh ykakatrhif lirhsqyhvd gslekdrtlt 121 plgreqaelt glrlaslglk fnkivhssmt ravettdiis khlpgvsrvs tdllregapi 181 epdppvshwk peavqyyedg arieaafrny ihradarqee dsyeificha nviryivcra 241 lqfppegwlr lslnngsith lvirpngrva lrtlgdtgfm ppdkitrs // LOCUS NP_001278101 653 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform i [Mus musculus]. ACCESSION NP_001278101 XP_006498958 VERSION NP_001278101.1 DBSOURCE REFSEQ: accession NM_001291172.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 653) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 653) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 653) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 653) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 653) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 653) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 653) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 653) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 653) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 653) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887599.1 and AW049827.1. On Mar 27, 2014 this sequence version replaced XP_006498958.1. Transcript Variant: This variant (9, also known as IA-IIL-VIIa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (i) has distinct N- and C-termini and is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK044489.1, EU887599.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..653 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..653 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform i" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=69806 Region 380..554 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(403,406,408..409,411..413,461,502,504..505,519..520, 522,553) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 559..>598 /region_name="IPT" /note="Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor...; cl15674" /db_xref="CDD:449574" CDS 1..653 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291172.1:120..2081" /note="isoform i is encoded by transcript variant 9" /db_xref="CCDS:CCDS71201.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mqrpalrrpg prqplrtmgs adreepiahk aisspsglay pddvldyglk pcnplaslsg 61 eppgrfgepd sigfqnflsp vkpagasgps prieitpshe lmqaggalrg rdaglspeqp 121 alalagvaas prftlpvpgy egyreplcls passgssasf isdtfspyts pcvspnnagp 181 ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv prpasrsssp gakrrhscae 241 alvaplpaas pqrsrspspq psphvalqdd sipagyppta gsavlmdaln tlatdspcgi 301 pskiwktspd ptpvstapsk aglarhiypt veflgpceqe errnsapesi llvpptwpkq 361 lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp hhrahyeteg srgavkaptg 421 ghpvvqlhgy menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv 481 leiplepknn mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv 541 slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttgp 601 agtcetrplp islisadrls pwlsrlqrnp pgsvfrcsvl lpapgsslvl lal // LOCUS NP_001344565 796 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 2 [Mus musculus]. ACCESSION NP_001344565 XP_006523986 VERSION NP_001344565.1 DBSOURCE REFSEQ: accession NM_001357636.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 796) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 796) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 796) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 796) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 796) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 796) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 796) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 796) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 796) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 796) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154796.2, AC131975.28 and AW045567.1. On Nov 4, 2017 this sequence version replaced XP_006523986.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.251618.1, SRR1660819.36183.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..796 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..796 /product="DNA-binding protein SATB1 isoform 2" /note="DNA-binding protein Satb1" /calculated_mol_wt=89031 Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 677..734 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(679..682,684,702,708,721,723..724,727..728,730..732, 734..735) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(680,683,724,727..728,731) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..796 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001357636.1:452..2842" /note="isoform 2 is encoded by transcript variant 6" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqslspstl 601 gkgesrgvfl pslltpapwp haapqqqqqq qqqqqqqqqp pppppqpqpq pqagprlppr 661 qptvassaes deenrqktrp rtkisvealg ilqsfiqdvg lypdeeaiqt lsaqldlpky 721 tiikffqnqr yylkhhgklk dnsglevdva eykdeellkd leesvqdkna ntlfsvklee 781 elsvegstdv nadlkd // LOCUS NP_001386155 45 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor erythroid 2-related factor 2 isoform 2 [Mus musculus]. ACCESSION NP_001386155 VERSION NP_001386155.1 DBSOURCE REFSEQ: accession NM_001399226.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 45) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 45) AUTHORS Dong C, Li J, Tang Q, Wang Y, Zeng C, Du L and Sun Q. TITLE Denervation aggravates renal ischemia reperfusion injury via BMAL1-mediated Nrf2/ARE pathway JOURNAL Arch Biochem Biophys 746, 109736 (2023) PUBMED 37657745 REMARK GeneRIF: Denervation aggravates renal ischemia reperfusion injury via BMAL1-mediated Nrf2/ARE pathway. REFERENCE 3 (residues 1 to 45) AUTHORS Vaikunthanathan T, Landmann E, Correa DM, Romano M, Trevelin SC, Peng Q, Crespo E, Corrado M, Lozano JJ, Pearce EL, Perpinan E, Zoccarato A, Siew L, Edwards-Hicks J, Khan R, Luu NT, Thursz MR, Newsome PN, Martinez-Llordella M, Shah N, Lechler RI, Shah AM, Sanchez-Fueyo A, Lombardi G and Safinia N. TITLE Dysregulated anti-oxidant signalling and compromised mitochondrial integrity negatively influence regulatory T cell function and viability in liver disease JOURNAL EBioMedicine 95, 104778 (2023) PUBMED 37657135 REFERENCE 4 (residues 1 to 45) AUTHORS You T, Zhao Y, Liu S and Xu H. TITLE Lactiplantibacillus plantarum P101 Attenuated Cyclophosphamide-Induced Liver Injury in Mice by Regulating the Nrf2/ARE Signaling Pathway JOURNAL Int J Mol Sci 24 (17), 13424 (2023) PUBMED 37686229 REMARK GeneRIF: Lactiplantibacillus plantarum P101 Attenuated Cyclophosphamide-Induced Liver Injury in Mice by Regulating the Nrf2/ARE Signaling Pathway. Publication Status: Online-Only REFERENCE 5 (residues 1 to 45) AUTHORS Wakabayashi N, Yagishita Y, Joshi T and Kensler TW. TITLE Forced Hepatic Expression of NRF2 or NQO1 Impedes Hepatocyte Lipid Accumulation in a Lipodystrophy Mouse Model JOURNAL Int J Mol Sci 24 (17), 13345 (2023) PUBMED 37686150 REMARK GeneRIF: Forced Hepatic Expression of NRF2 or NQO1 Impedes Hepatocyte Lipid Accumulation in a Lipodystrophy Mouse Model. Publication Status: Online-Only REFERENCE 6 (residues 1 to 45) AUTHORS Yehiely F, Bamborough P, Da Costa M, Perry BJ, Thinakaran G, Cohen FE, Carlson GA and Prusiner SB. TITLE Identification of candidate proteins binding to prion protein JOURNAL Neurobiol Dis 3 (4), 339-355 (1997) PUBMED 9173930 REMARK Erratum:[Neurobiol Dis 2002 Jun;10(1):67-8] REFERENCE 7 (residues 1 to 45) AUTHORS Chan K, Lu R, Chang JC and Kan YW. TITLE NRF2, a member of the NFE2 family of transcription factors, is not essential for murine erythropoiesis, growth, and development JOURNAL Proc Natl Acad Sci U S A 93 (24), 13943-13948 (1996) PUBMED 8943040 REFERENCE 8 (residues 1 to 45) AUTHORS Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M and Igarashi K. TITLE Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site JOURNAL Mol Cell Biol 16 (11), 6083-6095 (1996) PUBMED 8887638 REFERENCE 9 (residues 1 to 45) AUTHORS Shivdasani RA and Orkin SH. TITLE Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2 JOURNAL Proc Natl Acad Sci U S A 92 (19), 8690-8694 (1995) PUBMED 7567998 REFERENCE 10 (residues 1 to 45) AUTHORS Chui DH, Tang W and Orkin SH. TITLE cDNA cloning of murine Nrf 2 gene, coding for a p45 NF-E2 related transcription factor JOURNAL Biochem Biophys Res Commun 209 (1), 40-46 (1995) PUBMED 7726861 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL772404.5. Summary: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) lacks several alternate 3' exons and uses an alternate 3' terminal exon, compared to variant 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC057948.1, AK029360.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..45 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 44.75 cM" Protein 1..45 /product="nuclear factor erythroid 2-related factor 2 isoform 2" /note="nuclear factor erythroid 2-related factor 2; NFE2-related factor 2; NF-E2-related factor 2" /calculated_mol_wt=4931 CDS 1..45 /gene="Nfe2l2" /gene_synonym="Nrf2" /coded_by="NM_001399226.1:256..393" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:18024" /db_xref="MGI:MGI:108420" ORIGIN 1 mmdlelpppg lqsqqsdgcp lggllcvqtr rykfwkevse haesv // LOCUS NP_001193314 503 aa linear ROD 09-OCT-2023 DEFINITION mitochondrial antiviral-signaling protein isoform 1 [Mus musculus]. ACCESSION NP_001193314 VERSION NP_001193314.1 DBSOURCE REFSEQ: accession NM_001206385.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Liu F, Zhuang W, Song B, Yang Y, Liu J, Zheng Y, Liu B, Zheng J, Zhao W and Gao C. TITLE MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade JOURNAL Cell Mol Immunol 20 (10), 1186-1202 (2023) PUBMED 37582970 REMARK GeneRIF: MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade. REFERENCE 2 (residues 1 to 503) AUTHORS Ingle H, Makimaa H, Aggarwal S, Deng H, Foster L, Li Y, Kennedy EA, Peterson ST, Wilen CB, Lee S, Suthar MS and Baldridge MT. TITLE IFN-lambda derived from nonsusceptible enterocytes acts on tuft cells to limit persistent norovirus JOURNAL Sci Adv 9 (37), eadi2562 (2023) PUBMED 37703370 REFERENCE 3 (residues 1 to 503) AUTHORS He QQ, Huang Y, Nie L, Ren S, Xu G, Deng F, Cheng Z, Zuo Q, Zhang L, Cai H, Wang Q, Wang F, Ren H, Yan H, Xu K, Zhou L, Lu M, Lu Z, Zhu Y and Liu S. TITLE MAVS integrates glucose metabolism and RIG-I-like receptor signaling JOURNAL Nat Commun 14 (1), 5343 (2023) PUBMED 37660168 REMARK GeneRIF: MAVS integrates glucose metabolism and RIG-I-like receptor signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 503) AUTHORS Li J, Zhang R, Wang C, Zhu J, Ren M, Jiang Y, Hou X, Du Y, Wu Q, Qi S, Li L, Chen S, Yang H and Hou F. TITLE WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response JOURNAL Nat Commun 14 (1), 4824 (2023) PUBMED 37563140 REMARK GeneRIF: WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response. Erratum:[Nat Commun. 2023 Sep 25;14(1):5960. PMID: 37749076] Publication Status: Online-Only REFERENCE 5 (residues 1 to 503) AUTHORS Wang H, Sun W, Traba J, Wu J, Qi CF, Amo L, Kole HK, Scott B, Singh K, Sack MN and Bolland S. TITLE MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells JOURNAL Immunohorizons 7 (8), 587-599 (2023) PUBMED 37610299 REMARK GeneRIF: MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells. REFERENCE 6 (residues 1 to 503) AUTHORS Kumar H, Kawai T, Kato H, Sato S, Takahashi K, Coban C, Yamamoto M, Uematsu S, Ishii KJ, Takeuchi O and Akira S. TITLE Essential role of IPS-1 in innate immune responses against RNA viruses JOURNAL J Exp Med 203 (7), 1795-1803 (2006) PUBMED 16785313 REMARK GeneRIF: IPS-1 is the sole adapter in both retinoic acid-inducible gene (RIG-I) and melanoma differentiation-associated gene 5 (Mda5) signaling that mediates effective responses against a variety of RNA viruses. REFERENCE 7 (residues 1 to 503) AUTHORS Sun Q, Sun L, Liu HH, Chen X, Seth RB, Forman J and Chen ZJ. TITLE The specific and essential role of MAVS in antiviral innate immune responses JOURNAL Immunity 24 (5), 633-642 (2006) PUBMED 16713980 REFERENCE 8 (residues 1 to 503) AUTHORS Meylan E, Curran J, Hofmann K, Moradpour D, Binder M, Bartenschlager R and Tschopp J. TITLE Cardif is an adaptor protein in the RIG-I antiviral pathway and is targeted by hepatitis C virus JOURNAL Nature 437 (7062), 1167-1172 (2005) PUBMED 16177806 REFERENCE 9 (residues 1 to 503) AUTHORS Xu LG, Wang YY, Han KJ, Li LY, Zhai Z and Shu HB. TITLE VISA is an adapter protein required for virus-triggered IFN-beta signaling JOURNAL Mol Cell 19 (6), 727-740 (2005) PUBMED 16153868 REMARK GeneRIF: Data suggest that VISA is critically involved in both virus-triggered TLR3-independent and TLR3-mediated antiviral interferon signaling. REFERENCE 10 (residues 1 to 503) AUTHORS Seth RB, Sun L, Ea CK and Chen ZJ. TITLE Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-kappaB and IRF 3 JOURNAL Cell 122 (5), 669-682 (2005) PUBMED 16125763 REMARK GeneRIF: The overexpression of mitochondrial antiviral signaling(MAVS)induces the expression of IFN-beta through activation of NF-kappaB and IRF 3, thus boosting antiviral immunity. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK153748.1, AK028421.1 and AL808128.4. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020006.1, AK028421.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16125763; reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.3 cM" Protein 1..503 /product="mitochondrial antiviral-signaling protein isoform 1" /note="IFN-beta promoter stimulator-1; mitochondrial anti-viral signaling protein; virus-induced signaling adapter; CARD adapter inducing interferon beta; interferon beta promoter stimulator protein 1" /calculated_mol_wt=53268 Region 3..93 /region_name="CARD_IPS1" /note="Caspase activation and recruitment domain (CARD) found in IPS-1; cd08811" /db_xref="CDD:260073" Region 10..77 /region_name="Required for interaction with NLRX1. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 119..202 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 143..147 /region_name="Interaction with TRAF2. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 152 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 153..158 /region_name="Interaction with TRAF6 1. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 157 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 172 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 186 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 220 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 234 /site_type="methylation" /note="Asymmetric dimethylarginine. /evidence=ECO:0007744|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 251 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 256 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 337..503 /region_name="Interaction with DHX33. /evidence=ECO:0000269|PubMed:24037184" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 346..398 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 384 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 405..406 /site_type="cleavage" /note="Cleavage, by CASP3. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 415..418 /region_name="pLxIS motif. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 418 /site_type="phosphorylation" /note="Phosphoserine, by TBK1. /evidence=ECO:0000250|UniProtKB:Q7Z434; propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 431..436 /region_name="Interaction with TRAF6 2. /evidence=ECO:0000250|UniProtKB:Q7Z434" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Region 446..466 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" Site 479..496 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8VCF0.1)" CDS 1..503 /gene="Mavs" /gene_synonym="cardif; D430028G21Rik; IPS-1; Visa" /coded_by="NM_001206385.1:124..1635" /note="isoform 1 is encoded by transcript variant 2" /db_xref="CCDS:CCDS16760.1" /db_xref="GeneID:228607" /db_xref="MGI:MGI:2444773" ORIGIN 1 mtfaedktyk yirdnhskfc cvdvleilpy lscltasdqd rlrasyrqig nrdtlwglfn 61 nlqrrpgwve vfiralqice lpgladqvtr vyqsylppgt slrsleplql pdfpaavsgp 121 safapghnip dhglretpsc pkpvqdtqpp espvenseql lqtnsgavar msggslipsp 181 nqqalspqps rehqeqepel ggahaanvas vpiatygpvs ptvsfqplpr talrtnllsg 241 vtvsalsadt slsssstgsa fakgagdqak aatcfsttlt nsvttssvps prlvpvktms 301 sklplsskst aamtstvltn tapsklpsns vyagtvpsrv pasvakapan tippernskq 361 aketpegpat kvttggnqtg pnssirslhs gpemskpgvl vsqldepfsa csvdlaisps 421 sslvsepnhg peeneyssfr iqvdespsad llgspeplat qqpqeeeehc assmpwakwl 481 gatsallavf lavmlyrsrr laq // LOCUS NP_001349217 525 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 13 [Mus musculus]. ACCESSION NP_001349217 XP_017173280 VERSION NP_001349217.1 DBSOURCE REFSEQ: accession NM_001362288.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 525) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 525) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 525) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 525) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 525) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 525) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 525) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 525) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 525) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 525) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173280.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR6116558.147019.1, SRR1660815.4726.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..525 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..525 /product="CUGBP Elav-like family member 4 isoform 13" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=55865 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 406..>434 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..525 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362288.1:531..2108" /note="isoform 13 is encoded by transcript variant 19" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc nlliyhlpqe 421 fgdaelmqmf lpfgrhpvps rcqapscqgg qcaisssarr lrelrqpgqr tdrhpgherl 481 pdrheeaqga aeaaqrrqsp vlsaggsvpr grpglaqgrm lnglh // LOCUS NP_998824 770 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 3 isoform 1 [Mus musculus]. ACCESSION NP_998824 VERSION NP_998824.1 DBSOURCE REFSEQ: accession NM_213659.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 770) AUTHORS Xiao D, Zeng T, Zhu W, Yu ZZ, Huang W, Yi H, Lu SS, Feng J, Feng XP, Wu D, Wen Q, Zhou JH, Yuan L, Zhuang W and Xiao ZQ. TITLE ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers JOURNAL Cancer Immunol Res 11 (10), 1367-1383 (2023) PUBMED 37566399 REMARK GeneRIF: ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers. REFERENCE 2 (residues 1 to 770) AUTHORS Ramos RB, Martino N, Chuy D, Lu S, Zuo MXG, Balasubramanian U, Di John Portela I, Vincent PA and Adam AP. TITLE Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium JOURNAL J Cell Sci 136 (18) (2023) PUBMED 37667913 REMARK GeneRIF: Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium. REFERENCE 3 (residues 1 to 770) AUTHORS Liu L, Xu W, Li K, Hu Y, Shen L, Zhang H and Wang Y. TITLE Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway JOURNAL Arch Biochem Biophys 746, 109719 (2023) PUBMED 37591369 REMARK GeneRIF: Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway. REFERENCE 4 (residues 1 to 770) AUTHORS Xu F, Lu S, Jia X and Zhou Y. TITLE Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis JOURNAL Toxicol Lett 385, 42-50 (2023) PUBMED 37634812 REMARK GeneRIF: Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis. REFERENCE 5 (residues 1 to 770) AUTHORS Pencik J, Philippe C, Schlederer M, Atas E, Pecoraro M, Grund-Groschke S, Li WJ, Tracz A, Heidegger I, Lagger S, Trachtova K, Oberhuber M, Heitzer E, Aksoy O, Neubauer HA, Wingelhofer B, Orlova A, Witzeneder N, Dillinger T, Redl E, Greiner G, D'Andrea D, Ostman JR, Tangermann S, Hermanova I, Schafer G, Sternberg F, Pohl EE, Sternberg C, Varady A, Horvath J, Stoiber D, Malcolm TI, Turner SD, Parkes EE, Hantusch B, Egger G, Rose-John S, Poli V, Jain S, Armstrong CWD, Hoermann G, Goffin V, Aberger F, Moriggl R, Carracedo A, McKinney C, Kennedy RD, Klocker H, Speicher MR, Tang DG, Moazzami AA, Heery DM, Hacker M and Kenner L. TITLE STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway JOURNAL Mol Cancer 22 (1), 133 (2023) PUBMED 37573301 REMARK GeneRIF: STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway. Publication Status: Online-Only REFERENCE 6 (residues 1 to 770) AUTHORS Schaefer TS, Sanders LK and Nathans D. TITLE Cooperative transcriptional activity of Jun and Stat3 beta, a short form of Stat3 JOURNAL Proc Natl Acad Sci U S A 92 (20), 9097-9101 (1995) PUBMED 7568080 REFERENCE 7 (residues 1 to 770) AUTHORS Wen Z, Zhong Z and Darnell JE Jr. TITLE Maximal activation of transcription by Stat1 and Stat3 requires both tyrosine and serine phosphorylation JOURNAL Cell 82 (2), 241-250 (1995) PUBMED 7543024 REFERENCE 8 (residues 1 to 770) AUTHORS Raz R, Durbin JE and Levy DE. TITLE Acute phase response factor and additional members of the interferon-stimulated gene factor 3 family integrate diverse signals from cytokines, interferons, and growth factors JOURNAL J Biol Chem 269 (39), 24391-24395 (1994) PUBMED 7523373 REFERENCE 9 (residues 1 to 770) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 REFERENCE 10 (residues 1 to 770) AUTHORS Akira S, Nishio Y, Inoue M, Wang XJ, Wei S, Matsusaka T, Yoshida K, Sudo T, Naruto M and Kishimoto T. TITLE Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway JOURNAL Cell 77 (1), 63-71 (1994) PUBMED 7512451 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL591466.8, AK145486.1, AA123454.1 and AK153170.1. Summary: The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK153472.1, AK153005.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..770 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 63.82 cM" Protein 1..770 /product="signal transducer and activator of transcription 3 isoform 1" /note="acute phase response factor" /calculated_mol_wt=87923 Region 2..120 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Region 139..318 /region_name="STAT3_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16853" /db_xref="CDD:341078" Site order(142..165,213..239,263..284) /site_type="other" /note="coiled-coil motif" /db_xref="CDD:341078" Region 150..162 /region_name="Essential for nuclear import" /note="propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 214..215 /site_type="other" /note="ligand inducing" /db_xref="CDD:341078" Site order(243,245,247..248,251..252,260..261,264,267..268, 271..272,275,278..279,313..314) /site_type="other" /note="heterodimer interface [polypeptide binding]" /db_xref="CDD:341078" Region 321..484 /region_name="STAT3_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16847" /db_xref="CDD:341085" Site order(382,417,432,465..466,469) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341085" Region 554..715 /region_name="SH2_STAT3" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 3 proteins; cd10374" /db_xref="CDD:198237" Site order(591,609,636,638) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site 601 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 615 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 631 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site order(637,653) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site order(647..648,710) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198237" Site 685 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 705 /site_type="phosphorylation" /note="Phosphotyrosine, by FER and PTK6. /evidence=ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11553624, ECO:0007744|PubMed:18034455; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 707 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 714 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 727 /site_type="phosphorylation" /note="Phosphoserine, by DYRK2, NLK, NEK6, IRAK1, RPS6KA5, ZIPK/DAPK3 and PKC/PRKCE. /evidence=ECO:0000305|PubMed:11553624, ECO:0000305|PubMed:15004007, ECO:0000305|PubMed:20595392, ECO:0000305|PubMed:7543024, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P42227.2)" CDS 1..770 /gene="Stat3" /gene_synonym="1110034C02Rik; Aprf" /coded_by="NM_213659.3:309..2621" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS25440.1" /db_xref="GeneID:20848" /db_xref="MGI:MGI:103038" ORIGIN 1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatlvfhnl 61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrllqtaa 121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfnyktlk 181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktltdeel 241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykgdpivq 301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkfpelny 361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlreqrcgn 421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawasilwy 481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgpgvnys 541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kererailst 601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiimgykim 661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg saapylktkf icvtpttcsn 721 tidlpmsprt ldslmqfgnn gegaepsagg qfesltfdmd ltsecatspm // LOCUS NP_033134 484 aa linear ROD 09-OCT-2023 DEFINITION bile acid receptor isoform 3 [Mus musculus]. ACCESSION NP_033134 VERSION NP_033134.2 DBSOURCE REFSEQ: accession NM_009108.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 484) AUTHORS Xu Z, Huang Z, Zhang Y, Sun H, Hinz U, Heger U, Loos M, Gonzalez FJ, Hackert T, Bergmann F and Fortunato F. TITLE Farnesoid X receptor activation inhibits pancreatic carcinogenesis JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (7), 166811 (2023) PUBMED 37515840 REFERENCE 2 (residues 1 to 484) AUTHORS Qiu Y, Kang N, Wang X, Yao Y, Cui J, Zhang X and Zheng L. TITLE Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice JOURNAL PeerJ 11, e16155 (2023) PUBMED 37790634 REMARK GeneRIF: Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 484) AUTHORS Dean AE, Jungwirth E, Panzitt K, Wagner M and Anakk S. TITLE Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes JOURNAL Hepatol Commun 7 (10), e0213 (2023) PUBMED 37695073 REMARK GeneRIF: Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 484) AUTHORS Li Z, Dong H, Bian S, Wu H, Song W, Jia X, Chen J, Zhu X, Zhao L, Xuan Z, Jin C, Zhou M, Zheng S and Song P. TITLE FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases JOURNAL Int J Mol Sci 24 (17), 13494 (2023) PUBMED 37686300 REMARK GeneRIF: FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases. Publication Status: Online-Only REFERENCE 5 (residues 1 to 484) AUTHORS Song X, Zhang H, Zhang Y, Goh B, Bao B, Mello SS, Sun X, Zheng W, Gazzaniga FS, Wu M, Qu F, Yin Q, Gilmore MS, Oh SF and Kasper DL. TITLE Gut microbial fatty acid isomerization modulates intraepithelial T cells JOURNAL Nature 619 (7971), 837-843 (2023) PUBMED 37380774 REFERENCE 6 (residues 1 to 484) AUTHORS Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL and Stoffel M. TITLE Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism JOURNAL Nat Genet 27 (4), 375-382 (2001) PUBMED 11279518 REFERENCE 7 (residues 1 to 484) AUTHORS Lammert F, Carey MC and Paigen B. TITLE Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map JOURNAL Gastroenterology 120 (1), 221-238 (2001) PUBMED 11208732 REMARK Review article REFERENCE 8 (residues 1 to 484) AUTHORS Sinal CJ, Tohkin M, Miyata M, Ward JM, Lambert G and Gonzalez FJ. TITLE Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis JOURNAL Cell 102 (6), 731-744 (2000) PUBMED 11030617 REFERENCE 9 (residues 1 to 484) AUTHORS Kozak CA, Adamson MC and Weinberger C. TITLE Genetic mapping of gene encoding the farnesoid receptor, Fxr, to mouse Chromosome 10 JOURNAL Mamm Genome 7 (2), 164-165 (1996) PUBMED 8835541 REFERENCE 10 (residues 1 to 484) AUTHORS Seol W, Choi HS and Moore DD. TITLE Isolation of proteins that interact specifically with the retinoid X receptor: two novel orphan receptors JOURNAL Mol Endocrinol 9 (1), 72-85 (1995) PUBMED 7760852 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC152417.3 and AK132255.1. On Jul 30, 2009 this sequence version replaced NP_033134.1. Transcript Variant: This variant (3), alternatively referred to as beta 2 and alpha 4, uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK132255.1, U09416.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..484 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 44.98 cM" Protein 1..484 /product="bile acid receptor isoform 3" /note="bile acid receptor; farnesoid X activated receptor; RXR-interacting protein 14; retinoid X receptor-interacting protein 14; farnesol receptor HRR-1" /calculated_mol_wt=55411 Region 135..218 /region_name="NR_DBD_FXR" /note="DNA-binding domain of Farnesoid X receptor (FXR) family is composed of two C4-type zinc fingers; cd06962" /db_xref="CDD:143520" Site order(138,141,155,158,174,180,190,193) /site_type="other" /note="zinc binding site [ion binding]" /db_xref="CDD:143520" Site order(143..144,184..185,188) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:143520" Site 146 /site_type="phosphorylation" /note="Phosphoserine, by PKC/PRKCA. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site order(147..150,156..157,159,161,163..164,187..189,191,194, 208) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:143520" Site 165 /site_type="phosphorylation" /note="Phosphoserine, by PKC/PRKCA. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 168 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 217 /site_type="methylation" /note="N6-methyllysine, by SETD7. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 224 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Region 260..479 /region_name="NR_LBD_Fxr" /note="The ligand binding domain of Farnesoid X receptor:a member of the nuclear receptor superfamily of ligand-activated transcription factors; cd06936" /db_xref="CDD:132734" Site order(277,296,299..300,302..303,306,340..341,343..344,347, 459,473) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:132734" Site order(308,311,315,325..326,329,332..333,476,479) /site_type="other" /note="coactivator recognition site [polypeptide binding]" /db_xref="CDD:132734" Site order(387,406,413,417,440,443..444,447..448,450,453..454, 457..458) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:132734" Site 454 /site_type="phosphorylation" /note="Phosphothreonine, by PKC/PRKCZ. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" CDS 1..484 /gene="Nr1h4" /gene_synonym="Fxr; HRR1; RIP14; Rxrip14" /coded_by="NM_009108.2:43..1497" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS24116.1" /db_xref="GeneID:20186" /db_xref="MGI:MGI:1352464" ORIGIN 1 mvmqfqglen piqislhhsh rlsgfvpegm svkpakgmlt ehaagplgqn ldlesyspyn 61 nvpfpqvqpq issssyysnl gfypqqpedw yspgiyelrr mpaetgyqge tevsempvtk 121 kprmaaasag rikgdelcvv cgdrasgyhy naltcegckg ffrrsitkna vykcknggnc 181 vmdmymrrkc qecrlrkcke mgmlaecllt eiqckskrlr knvkqhadqt aneddsegrd 241 lrqvtsttkf crekteltad qqtlldyimd synkqrmpqe itnkilkeef saeenflilt 301 ematshvqil veftkklpgf qtldhedqia llkgsaveam flrsaeifnk klpaghadll 361 eerirksgis deyitpmfsf yksvgelkmt qeeyalltai vilspdrqyi kdreaveklq 421 eplldvlqkl ckmyqpenpq hfacllgrlt elrtfnhhha emlmswrvnd hkftpllcei 481 wdvq // LOCUS NP_001103675 509 aa linear ROD 09-OCT-2023 DEFINITION activin receptor type-1 precursor [Mus musculus]. ACCESSION NP_001103675 VERSION NP_001103675.1 DBSOURCE REFSEQ: accession NM_001110205.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 509) AUTHORS Yang YS, Lin C, Ma H, Xie J, Kaplan FS, Gao G and Shim JH. TITLE AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva JOURNAL Biomolecules 13 (9), 1364 (2023) PUBMED 37759764 REMARK GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only REFERENCE 2 (residues 1 to 509) AUTHORS Yamaguchi H, Shen J, Little DR, Li M, Sozen S, Suzuki K, Mishina Y and Komatsu Y. TITLE Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation JOURNAL Biochem Biophys Res Commun 629, 101-105 (2022) PUBMED 36116371 REMARK GeneRIF: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation. REFERENCE 3 (residues 1 to 509) AUTHORS Yamamoto M, Stoessel SJ, Yamamoto S and Goldhamer DJ. TITLE Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification JOURNAL J Bone Miner Res 37 (11), 2077-2093 (2022) PUBMED 35637634 REMARK GeneRIF: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification. REFERENCE 4 (residues 1 to 509) AUTHORS Lees-Shepard JB, Stoessel SJ, Chandler JT, Bouchard K, Bento P, Apuzzo LN, Devarakonda PM, Hunter JW and Goldhamer DJ. TITLE An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice JOURNAL J Clin Invest 132 (12) (2022) PUBMED 35503416 REFERENCE 5 (residues 1 to 509) AUTHORS Chen HY, Hu Y, Xu XB, Zhou YA, Li NS, He C, Xie C, Lu NH and Zhu Y. TITLE Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2 JOURNAL Helicobacter 26 (6), e12849 (2021) PUBMED 34490965 REMARK GeneRIF: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2. REFERENCE 6 (residues 1 to 509) AUTHORS Schmitt J, Mielke R and Schrewe H. TITLE Genomic organization of a mouse type I activin receptor JOURNAL Biochem Biophys Res Commun 213 (1), 211-217 (1995) PUBMED 7639738 REFERENCE 7 (residues 1 to 509) AUTHORS Verschueren K, Dewulf N, Goumans MJ, Lonnoy O, Feijen A, Grimsby S, Vandi Spiegle K, ten Dijke P, Moren A, Vanscheeuwijck P, Heldin CH, Miyazono K, Mummery C, Van Den Eijnden-Van Raaij J and Huylebroeck D. TITLE Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis JOURNAL Mech Dev 52 (1), 109-123 (1995) PUBMED 7577669 REFERENCE 8 (residues 1 to 509) AUTHORS Roelen BA, Lin HY, Knezevic V, Freund E and Mummery CL. TITLE Expression of TGF-beta s and their receptors during implantation and organogenesis of the mouse embryo JOURNAL Dev Biol 166 (2), 716-728 (1994) PUBMED 7813789 REFERENCE 9 (residues 1 to 509) AUTHORS Nakamura T, Sugino K, Kurosawa N, Sawai M, Takio K, Eto Y, Iwashita S, Muramatsu M, Titani K and Sugino H. TITLE Isolation and characterization of activin receptor from mouse embryonal carcinoma cells. Identification of its serine/threonine/tyrosine protein kinase activity JOURNAL J Biol Chem 267 (26), 18924-18928 (1992) PUBMED 1326537 REFERENCE 10 (residues 1 to 509) AUTHORS Mathews LS and Vale WW. TITLE Expression cloning of an activin receptor, a predicted transmembrane serine kinase JOURNAL Cell 65 (6), 973-982 (1991) PUBMED 1646080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from L15436.1, BC058718.1 and BQ030975.1. Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L15436.1, SRR7345562.1940085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..509 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 33.05 cM" Protein 1..509 /product="activin receptor type-1 precursor" /EC_number="2.7.11.30" /note="activin receptor type-1; TSR-I; TSK-7L; activin receptor type I; TGF-B superfamily receptor type I; serine/threonine-protein kinase receptor R1" /calculated_mol_wt=55077 sig_peptide 1..20 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=2167 mat_peptide 21..509 /product="Activin receptor type-1. /id=PRO_0000024395" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=55077 Region 33..103 /region_name="Activin_recp" /note="Activin types I and II receptor domain; pfam01064" /db_xref="CDD:426025" Site 102 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P37172.2)" Site 124..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" Region 179..206 /region_name="TGF_beta_GS" /note="Transforming growth factor beta type I GS-motif; pfam08515" /db_xref="CDD:430045" Region 202..499 /region_name="STKc_ACVR1_ALK1" /note="Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1; cd14142" /db_xref="CDD:271044" Site order(202..203,206..207,245..246,249..250,253..254,268, 270) /site_type="other" /note="FKBP12 binding site [polypeptide binding]" /db_xref="CDD:271044" Site order(214..218,222,233,235,263,283..286,290,292,336,338, 340..341,343,354,357,377..380) /site_type="active" /db_xref="CDD:271044" Site order(214..220,222,233,235,283..284,286,290,340..341,343, 354) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271044" Site order(218,290,292,336,338,340,357,377..380) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271044" Site 353..380 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271044" Site 501 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q04771; propagated from UniProtKB/Swiss-Prot (P37172.2)" CDS 1..509 /gene="Acvr1" /gene_synonym="ActR-I; ActRIA; Acvr; Acvr1a; Acvrlk2; Alk-2; ALK2; Alk8; D330013D15Rik; SKR1; Tsk7L" /coded_by="NM_001110205.1:146..1675" /db_xref="CCDS:CCDS16050.1" /db_xref="GeneID:11477" /db_xref="MGI:MGI:87911" ORIGIN 1 mvdgvmilpv lmmmafpsps vedekpkvnq klymcvcegl scgnedhceg qqcfsslsin 61 dgfhvyqkgc fqvyeqgkmt cktppspgqa veccqgdwcn rnitaqlptk gksfpgtqnf 121 hlevgliils vvfavcllac ilgvalrkfk rrnqerlnpr dveygtiegl ittnvgdstl 181 aelldhscts gsgsglpflv qrtvarqitl lecvgkgryg evwrgswqge nvavkifssr 241 dekswfrete lyntvmlrhe nilgfiasdm tsrhsstqlw lithyhemgs lydylqlttl 301 dtvsclrivl siasglahlh ieifgtqgks aiahrdlksk nilvkkngqc ciadlglavm 361 hsqstnqldv gnnprvgtkr ymapevldet iqvdcfdsyk rvdiwafglv lwevarrmvs 421 ngivedykpp fydvvpndps fedmrkvvcv dqqrpnipnr wfsdptltsl aklmkecwyq 481 npsarltalr ikktltkidn sldklktdc // LOCUS NP_001157172 488 aa linear ROD 09-OCT-2023 DEFINITION bile acid receptor isoform 1 [Mus musculus]. ACCESSION NP_001157172 VERSION NP_001157172.1 DBSOURCE REFSEQ: accession NM_001163700.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 488) AUTHORS Xu Z, Huang Z, Zhang Y, Sun H, Hinz U, Heger U, Loos M, Gonzalez FJ, Hackert T, Bergmann F and Fortunato F. TITLE Farnesoid X receptor activation inhibits pancreatic carcinogenesis JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (7), 166811 (2023) PUBMED 37515840 REFERENCE 2 (residues 1 to 488) AUTHORS Qiu Y, Kang N, Wang X, Yao Y, Cui J, Zhang X and Zheng L. TITLE Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice JOURNAL PeerJ 11, e16155 (2023) PUBMED 37790634 REMARK GeneRIF: Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 488) AUTHORS Dean AE, Jungwirth E, Panzitt K, Wagner M and Anakk S. TITLE Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes JOURNAL Hepatol Commun 7 (10), e0213 (2023) PUBMED 37695073 REMARK GeneRIF: Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 488) AUTHORS Li Z, Dong H, Bian S, Wu H, Song W, Jia X, Chen J, Zhu X, Zhao L, Xuan Z, Jin C, Zhou M, Zheng S and Song P. TITLE FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases JOURNAL Int J Mol Sci 24 (17), 13494 (2023) PUBMED 37686300 REMARK GeneRIF: FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases. Publication Status: Online-Only REFERENCE 5 (residues 1 to 488) AUTHORS Song X, Zhang H, Zhang Y, Goh B, Bao B, Mello SS, Sun X, Zheng W, Gazzaniga FS, Wu M, Qu F, Yin Q, Gilmore MS, Oh SF and Kasper DL. TITLE Gut microbial fatty acid isomerization modulates intraepithelial T cells JOURNAL Nature 619 (7971), 837-843 (2023) PUBMED 37380774 REFERENCE 6 (residues 1 to 488) AUTHORS Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL and Stoffel M. TITLE Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism JOURNAL Nat Genet 27 (4), 375-382 (2001) PUBMED 11279518 REFERENCE 7 (residues 1 to 488) AUTHORS Lammert F, Carey MC and Paigen B. TITLE Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map JOURNAL Gastroenterology 120 (1), 221-238 (2001) PUBMED 11208732 REMARK Review article REFERENCE 8 (residues 1 to 488) AUTHORS Sinal CJ, Tohkin M, Miyata M, Ward JM, Lambert G and Gonzalez FJ. TITLE Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis JOURNAL Cell 102 (6), 731-744 (2000) PUBMED 11030617 REFERENCE 9 (residues 1 to 488) AUTHORS Kozak CA, Adamson MC and Weinberger C. TITLE Genetic mapping of gene encoding the farnesoid receptor, Fxr, to mouse Chromosome 10 JOURNAL Mamm Genome 7 (2), 164-165 (1996) PUBMED 8835541 REFERENCE 10 (residues 1 to 488) AUTHORS Seol W, Choi HS and Moore DD. TITLE Isolation of proteins that interact specifically with the retinoid X receptor: two novel orphan receptors JOURNAL Mol Endocrinol 9 (1), 72-85 (1995) PUBMED 7760852 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC152417.3 and AK002513.1. Transcript Variant: This variant (1), alternatively referred to as beta 1 and alpha 3, encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK002513.1, SRR5189682.62501.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..488 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 44.98 cM" Protein 1..488 /product="bile acid receptor isoform 1" /note="bile acid receptor; farnesoid X activated receptor; RXR-interacting protein 14; retinoid X receptor-interacting protein 14; farnesol receptor HRR-1" /calculated_mol_wt=55863 Region 135..222 /region_name="NR_DBD_FXR" /note="DNA-binding domain of Farnesoid X receptor (FXR) family is composed of two C4-type zinc fingers; cd06962" /db_xref="CDD:143520" Site order(138,141,155,158,174,180,190,193) /site_type="other" /note="zinc binding site [ion binding]" /db_xref="CDD:143520" Site order(143..144,184..185,188) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:143520" Site 146 /site_type="phosphorylation" /note="Phosphoserine, by PKC/PRKCA. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site order(147..150,156..157,159,161,163..164,187..189,191,194, 208) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:143520" Site 165 /site_type="phosphorylation" /note="Phosphoserine, by PKC/PRKCA. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 168 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 221 /site_type="methylation" /note="N6-methyllysine, by SETD7. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Site 228 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" Region 264..483 /region_name="NR_LBD_Fxr" /note="The ligand binding domain of Farnesoid X receptor:a member of the nuclear receptor superfamily of ligand-activated transcription factors; cd06936" /db_xref="CDD:132734" Site order(281,300,303..304,306..307,310,344..345,347..348,351, 463,477) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:132734" Site order(312,315,319,329..330,333,336..337,480,483) /site_type="other" /note="coactivator recognition site [polypeptide binding]" /db_xref="CDD:132734" Site order(391,410,417,421,444,447..448,451..452,454,457..458, 461..462) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:132734" Site 458 /site_type="phosphorylation" /note="Phosphothreonine, by PKC/PRKCZ. /evidence=ECO:0000250|UniProtKB:Q96RI1; propagated from UniProtKB/Swiss-Prot (Q60641.3)" CDS 1..488 /gene="Nr1h4" /gene_synonym="Fxr; HRR1; RIP14; Rxrip14" /coded_by="NM_001163700.1:43..1509" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS48668.1" /db_xref="GeneID:20186" /db_xref="MGI:MGI:1352464" ORIGIN 1 mvmqfqglen piqislhhsh rlsgfvpegm svkpakgmlt ehaagplgqn ldlesyspyn 61 nvpfpqvqpq issssyysnl gfypqqpedw yspgiyelrr mpaetgyqge tevsempvtk 121 kprmaaasag rikgdelcvv cgdrasgyhy naltcegckg ffrrsitkna vykcknggnc 181 vmdmymrrkc qecrlrkcke mgmlaecmyt gllteiqcks krlrknvkqh adqtanedds 241 egrdlrqvts ttkfcrekte ltadqqtlld yimdsynkqr mpqeitnkil keefsaeenf 301 liltematsh vqilveftkk lpgfqtldhe dqiallkgsa veamflrsae ifnkklpagh 361 adlleerirk sgisdeyitp mfsfyksvge lkmtqeeyal ltaivilspd rqyikdreav 421 eklqeplldv lqklckmyqp enpqhfacll grltelrtfn hhhaemlmsw rvndhkftpl 481 lceiwdvq // LOCUS NP_001349261 456 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 50 [Mus musculus]. ACCESSION NP_001349261 XP_017173288 VERSION NP_001349261.1 DBSOURCE REFSEQ: accession NM_001362332.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 456) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 456) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 456) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 456) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 456) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 456) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 456) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 456) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 456) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 456) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173288.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.245280.1, SRR1660813.196395.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..456 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..456 /product="CUGBP Elav-like family member 4 isoform 50" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=48431 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region <415..455 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..456 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362332.1:531..1901" /note="isoform 50 is encoded by transcript variant 52" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregfvsfd 421 npasaqtaiq amngfqigmk rlkvqlkrpk danrpy // LOCUS NP_848904 514 aa linear ROD 09-OCT-2023 DEFINITION transmembrane protein 117 [Mus musculus]. ACCESSION NP_848904 VERSION NP_848904.1 DBSOURCE REFSEQ: accession NM_178789.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 514) AUTHORS Yang Y, Wang X, Yan P, Wang D, Luo T, Zhou Y, Chen S, Liu Q, Hou J and Wang P. TITLE Transmembrane protein 117 knockdown protects against angiotensin-II-induced cardiac hypertrophy JOURNAL Hypertens Res 46 (10), 2326-2339 (2023) PUBMED 37488300 REMARK GeneRIF: Transmembrane protein 117 knockdown protects against angiotensin-II-induced cardiac hypertrophy. REFERENCE 2 (residues 1 to 514) AUTHORS Gaspari S, Labouebe G, Picard A, Berney X, Rodriguez Sanchez-Archidona A and Thorens B. TITLE Tmem117 in AVP neurons regulates the counterregulatory response to hypoglycemia JOURNAL EMBO Rep 24 (8), e57344 (2023) PUBMED 37314252 REMARK GeneRIF: Tmem117 in AVP neurons regulates the counterregulatory response to hypoglycemia. COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC147160.2, AC158918.7, AC118683.10 and AC102905.9. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AK047437.1, AK048597.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..514 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 48.65 cM" Protein 1..514 /product="transmembrane protein 117" /calculated_mol_wt=60225 Region 4..403 /region_name="TMEM117" /note="TMEM117 protein family; pfam15113" /db_xref="CDD:434469" Site 16..36 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 66..86 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 111..131 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 155..175 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 199..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 296..316 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 353 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:Q9H0C3; propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 371 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:Q9H0C3; propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 395..415 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Region 430..450 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Site 453 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" Region 494..514 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8BH18.1)" CDS 1..514 /gene="Tmem117" /gene_synonym="B930062P21Rik" /coded_by="NM_178789.4:145..1689" /db_xref="CCDS:CCDS27774.1" /db_xref="GeneID:320709" /db_xref="MGI:MGI:2444580" ORIGIN 1 mgkdfryyfq hpwsrmivay lviffnflif aedpvshsqt eanvivvgnc fsfvtnkypr 61 gvgwrilkvl lwllailigl iagkflfhqr lfgqllrlkm fredhgswmt mffstilflf 121 ifshiyntil lmdgnmgayl itdymgirne sfmklaavgt wmgdfvtawm vtdmmlqdkp 181 ypdwgksara fwkkgnvrii lfwtvlftlt svvvlvittd wiswdklnrg flpsdevsra 241 flasfilvfd llivmqdwef phfmgdvdvn lpglhtphmq fkipffqkif keeyrihitg 301 kwfnygiifl vlildlnmwk nqifykphey gqyigpgqki ytvkdseslk dlnrtklswe 361 wrsnhtnpqt nktyvegdmf lhsrfigasl dvkclafvps liafvwfgff iwffgrflkn 421 eqgmenqdkt ytrmkrksps ehskdmgitr entqvsvedp lndpalvcir sdfneivyks 481 shltsenlsl hlkestseve aeqepaasqr mrtn // LOCUS NP_001397152 534 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform b [Mus musculus]. ACCESSION NP_001397152 XP_006505069 VERSION NP_001397152.1 DBSOURCE REFSEQ: accession NM_001410223.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 534) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 534) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 534) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 534) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 534) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 534) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 534) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_006505069.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.1498865.1, SRR12282455.21974378.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..534 /product="nuclear respiratory factor 1 isoform b" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=57152 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..525 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" CDS 1..534 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410223.1:295..1899" /note="isoform b is encoded by transcript variant 13" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang pdgvhawtis kavtapqaag kihtdfgkgf 481 imaevmkded lkeessenaa kaagkykqqg rayvvedgdi iffkfnspqq lkkk // LOCUS NP_001397161 481 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform j [Mus musculus]. ACCESSION NP_001397161 VERSION NP_001397161.1 DBSOURCE REFSEQ: accession NM_001410232.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 481) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 481) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 481) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 481) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 481) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 481) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 481) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 481) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 481) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 481) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17253012.7872344.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..481 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..481 /product="nuclear respiratory factor 1 isoform j" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=51463 Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..481 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410232.1:274..1719" /note="isoform j is encoded by transcript variant 22" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lfmadcggyk wilarrlqaq mefmhgpsak 481 p // LOCUS NP_001344569 744 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 4 [Mus musculus]. ACCESSION NP_001344569 XP_006523992 VERSION NP_001344569.1 DBSOURCE REFSEQ: accession NM_001357640.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 744) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 744) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 744) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 744) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 744) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 744) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 744) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 744) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 744) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 744) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154796.2, AC131975.28 and AW045567.1. On Nov 4, 2017 this sequence version replaced XP_006523992.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660825.95303.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..744 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..744 /product="DNA-binding protein SATB1 isoform 4" /note="DNA-binding protein Satb1" /calculated_mol_wt=83309 Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 625..682 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(627..630,632,650,656,669,671..672,675..676,678..680, 682..683) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(628,631,672,675..676,679) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..744 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001357640.1:452..2686" /note="isoform 4 is encoded by transcript variant 8" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqgwlcell 481 rwkedpspen rtlwenlsmi rrflslpqpe rdaiyeqesn avhhhgdrpp hiihvpaeqi 541 qslspstlgk gesrgvflps lltpapwpha apqqqqqqqq qqqqqqqppp pppqpqpqpq 601 agprlpprqp tvassaesde enrqktrprt kisvealgil qsfiqdvgly pdeeaiqtls 661 aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey kdeellkdle esvqdknant 721 lfsvkleeel svegstdvna dlkd // LOCUS NP_001349242 485 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 34 [Mus musculus]. ACCESSION NP_001349242 XP_006525583 VERSION NP_001349242.1 DBSOURCE REFSEQ: accession NM_001362313.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 485) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 485) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 485) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 485) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 485) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 485) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 485) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 485) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 485) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 485) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_006525583.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.114847.1, SRR1660817.107084.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..485 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..485 /product="CUGBP Elav-like family member 4 isoform 34" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51695 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..474 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..485 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362313.1:531..1988" /note="isoform 34 is encoded by transcript variant 38" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd 481 anrpy // LOCUS NP_001192243 749 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 1 isoform 2 [Mus musculus]. ACCESSION NP_001192243 VERSION NP_001192243.1 DBSOURCE REFSEQ: accession NM_001205314.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 749) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 749) AUTHORS Clark DN, O'Neil SM, Xu L, Steppe JT, Savage JT, Raghunathan K and Filiano AJ. TITLE Prolonged STAT1 activation in neurons drives a pathological transcriptional response JOURNAL J Neuroimmunol 382, 578168 (2023) PUBMED 37556887 REMARK GeneRIF: Prolonged STAT1 activation in neurons drives a pathological transcriptional response. REFERENCE 3 (residues 1 to 749) AUTHORS Imitola J, Hollingsworth EW, Watanabe F, Olah M, Elyaman W, Starossom S, Kivisakk P and Khoury SJ. TITLE Stat1 is an inducible transcriptional repressor of neural stem cells self-renewal program during neuroinflammation JOURNAL Front Cell Neurosci 17, 1156802 (2023) PUBMED 37663126 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 749) AUTHORS Han W, Pu H, Li S, Liu Y, Zhao Y, Xu M, Chen C, Wu Y, Yang T, Ye Q, Wang H, Stetler RA, Chen J and Shi Y. TITLE Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke JOURNAL J Neuroinflammation 20 (1), 178 (2023) PUBMED 37516843 REMARK GeneRIF: Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke. Publication Status: Online-Only REFERENCE 5 (residues 1 to 749) AUTHORS Largent AD, Lambert K, Chiang K, Shumlak N, Liggitt D, Oukka M, Torgerson TR, Buckner JH, Allenspach EJ, Rawlings DJ and Jackson SW. TITLE Dysregulated IFN-gamma signals promote autoimmunity in STAT1 gain-of-function syndrome JOURNAL Sci Transl Med 15 (703), eade7028 (2023) PUBMED 37406138 REFERENCE 6 (residues 1 to 749) AUTHORS Novak U, Harpur AG, Paradiso L, Kanagasundaram V, Jaworowski A, Wilks AF and Hamilton JA. TITLE Colony-stimulating factor 1-induced STAT1 and STAT3 activation is accompanied by phosphorylation of Tyk2 in macrophages and Tyk2 and JAK1 in fibroblasts JOURNAL Blood 86 (8), 2948-2956 (1995) PUBMED 7579387 REFERENCE 7 (residues 1 to 749) AUTHORS Finidori J and Kelly PA. TITLE Cytokine receptor signalling through two novel families of transducer molecules: Janus kinases, and signal transducers and activators of transcription JOURNAL J Endocrinol 147 (1), 11-23 (1995) PUBMED 7490523 REMARK Review article REFERENCE 8 (residues 1 to 749) AUTHORS Harroch S, Gothelf Y, Revel M and Chebath J. TITLE 5' upstream sequences of MyD88, an IL-6 primary response gene in M1 cells: detection of functional IRF-1 and Stat factors binding sites JOURNAL Nucleic Acids Res 23 (17), 3539-3546 (1995) PUBMED 7567467 REFERENCE 9 (residues 1 to 749) AUTHORS Matsuda T and Hirano T. TITLE Association of p72 tyrosine kinase with Stat factors and its activation by interleukin-3, interleukin-6, and granulocyte colony-stimulating factor JOURNAL Blood 83 (12), 3457-3461 (1994) PUBMED 7515712 REFERENCE 10 (residues 1 to 749) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK039458.1, AK084855.1, BC042551.1 and BX513160.1. Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Variants 2, 3, and 4 encode the same isoform. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK084855.1, SRR1660813.156759.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..749 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.81 cM" Protein 1..749 /product="signal transducer and activator of transcription 1 isoform 2" /calculated_mol_wt=87184 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 114 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 138..313 /region_name="STAT1_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16851" /db_xref="CDD:341076" Site order(164..165,168..169,172,175..176,179,232,236,239..241, 243..244,256..257,259..260,263..264,267,271,274,306, 309..311) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:341076" Site 175 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(239..241,243..244,256..257,260,263..264,267,271,274, 302,306,309..310) /site_type="other" /note="CCD-DBD interface [polypeptide binding]" /db_xref="CDD:341076" Site 296 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 317..477 /region_name="STAT1_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16845" /db_xref="CDD:341083" Site order(336,340,378,411,413,426..427,459..460,463) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341083" Site 366 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 525 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 557..707 /region_name="SH2_STAT1" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins; cd10372" /db_xref="CDD:198235" Site order(584,602,630,632) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site order(631,647) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site 637 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(641..642,706) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198235" Site 665 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 701 /site_type="phosphorylation" /note="Phosphotyrosine, by JAK1, JAK2 or TYK2. /evidence=ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 708 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000269|PubMed:17332413, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 715..739 /region_name="STAT1_TAZ2bind" /note="STAT1 TAZ2 binding domain; pfam12162" /db_xref="CDD:432372" Site 724 /site_type="other" /note="Required for recruitment of EP300/p300. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 727 /site_type="phosphorylation" /note="Phosphoserine, by CaMK2 and MAPK14. /evidence=ECO:0000269|PubMed:11972023, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 744 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000305|PubMed:17332413; propagated from UniProtKB/Swiss-Prot (P42225.1)" CDS 1..749 /gene="Stat1" /gene_synonym="2010005J02Rik" /coded_by="NM_001205314.1:336..2585" /note="isoform 2 is encoded by transcript variant 3" /db_xref="CCDS:CCDS56628.1" /db_xref="GeneID:20846" /db_xref="MGI:MGI:103063" ORIGIN 1 msqwfelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaaydv sfatirfhdl 61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpvq msmiiynclk eerkilenaq 121 rfnqaqegni qntvmldkqk eldskvrnvk dqvmcieqei ktleelqdey dfkcktsqnr 181 egeangvaks dqkqeqlllh kmflmldnkr keiihkirel lnsieltqnt lindelvewk 241 rrqqsacigg ppnacldqlq swftivaetl qqirqqlkkl eeleqkftye pdpitknkqv 301 lsdrtfllfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv 361 kvsfdkdvne kntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagnrtn 421 egplivteel hslsfetqlc qpglvidlet tslpvvvisn vsqlpsgwas ilwynmlvte 481 prnlsfflnp pcawwsqlse vlswqfssvt krglnadqls mlgekllgpn agpdglipwt 541 rfckenindk nfsfwpwidt ilelikkhll clwndgcimg fiskereral lkdqqpgtfl 601 lrfsessreg aitftwvers qnggepdfha vepytkkels avtfpdiirn ykvmaaenip 661 enplkylypn idkdhafgky ysrpkeapep melddpkrtg yiktelisvs evhpsrlqtt 721 dnllpmspee fdemsrivgp efdsmmstv // LOCUS NP_001139764 504 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 22 [Mus musculus]. ACCESSION NP_001139764 VERSION NP_001139764.1 DBSOURCE REFSEQ: accession NM_001146292.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 504) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 504) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 504) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 504) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 504) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 504) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 504) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 504) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 504) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 504) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8, AK048427.1, BC048405.1, AF515450.1, CX242398.1, AK038871.1 and AK078071.1. Transcript Variant: This variant (1) encodes isoform (22, also known as A). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC048405.1, SRR1660817.289057.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..504 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..504 /product="CUGBP Elav-like family member 4 isoform 22" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53807 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 415..493 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..504 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001146292.2:531..2045" /note="isoform 22 is encoded by transcript variant 1" /db_xref="CCDS:CCDS50241.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgnvisskv fvdratnqsk cfgfvsfdnp asaqtaiqam 481 ngfqigmkrl kvqlkrpkda nrpy // LOCUS NP_001263339 2296 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform d precursor [Mus musculus]. ACCESSION NP_001263339 VERSION NP_001263339.1 DBSOURCE REFSEQ: accession NM_001276410.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2296) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2296) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2296) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2296) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2296) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2296) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2296) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2296) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2296) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2296) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, AK171339.1, CK639246.1, CN692112.1, CN536551.1, CN532664.1, AK147315.1 and AC124821.5. Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK170755.1, SRR10223971.453.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2296 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2296 /product="fibronectin isoform d precursor" /calculated_mol_wt=250233 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1709..1710,1712..1713) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1724..1803 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1800..1801,1803..1804) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1813..1893 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 2029..2084 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2115..2159 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2160..2201 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2203..2242 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2296 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276410.1:253..7143" /note="isoform d precursor is encoded by transcript variant 4" /db_xref="CCDS:CCDS78609.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtt ipaptnlkfs qvtptsftaq wiapsvqltg yrvrvnpkek tgpmkeinls 1681 pdsssvivsg lmvatkyevs vyalkdtlts rpaqgvittl envspprrar vtdatettit 1741 iswrtkteti tgfqvdaipa ngqtpvqrsi spdvrsytit glqpgtdyki hlytlndnar 1801 sspviidast aidapsnlrf ltttpnsllv swqaprarit gyiikyekpg spprevvprp 1861 rpgvteatit glepgteyti yvialknnqk sepligrkkt delpqlvtlp hpnlhgpeil 1921 dvpstvqktp fitnpgydte ngiqlpgtth qqpsvgqqmi feehgfrrtt pptaatpvrl 1981 rprpylpnvd eevqighvpr gdvdyhlyph vpglnpnast gqealsqtti swtpfqesse 2041 yiiscqpvgt deeplqfqvp gtstsatltg ltrgvtynii vealqnqrrh kvreevvtvg 2101 navseglnqp tddscfdpyt vshyaigeew erlsdagfkl tcqclgfgsg hfrcdsskwc 2161 hdngvnykig ekwdrqgeng qrmsctclgn gkgefkcdph eatcyddgkt yhvgeqwqke 2221 ylgaicsctc fggqrgwrcd ncrrpgaaep spdgttghty nqytqrynqr tntnvncpie 2281 cfmpldvqad rddsre // LOCUS NP_031603 351 aa linear ROD 09-OCT-2023 DEFINITION C5a anaphylatoxin chemotactic receptor 1 [Mus musculus]. ACCESSION NP_031603 VERSION NP_031603.2 DBSOURCE REFSEQ: accession NM_007577.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 351) AUTHORS Petrisko TJ, Gargus M, Chu SH, Selvan P, Whiteson KL and Tenner AJ. TITLE Influence of complement protein C1q or complement receptor C5aR1 on gut microbiota composition in wildtype and Alzheimer's mouse models JOURNAL J Neuroinflammation 20 (1), 211 (2023) PUBMED 37726739 REMARK GeneRIF: Influence of complement protein C1q or complement receptor C5aR1 on gut microbiota composition in wildtype and Alzheimer's mouse models. Publication Status: Online-Only REFERENCE 2 (residues 1 to 351) AUTHORS Wiese AV, Duhn J, Korkmaz RU, Quell KM, Osman I, Ender F, Schroder T, Lewkowich I, Hogan S, Huber-Lang M, Gumprecht F, Konig P, Kohl J and Laumonnier Y. TITLE C5aR1 activation in mice controls inflammatory eosinophil recruitment and functions in allergic asthma JOURNAL Allergy 78 (7), 1893-1908 (2023) PUBMED 36757006 REMARK GeneRIF: C5aR1 activation in mice controls inflammatory eosinophil recruitment and functions in allergic asthma. REFERENCE 3 (residues 1 to 351) AUTHORS Silva BM, Gomes GF, Veras FP, Cambier S, Silva GV, Quadros AU, Caetite DB, Nascimento DC, Silva CM, Silva JC, Damasceno S, Schneider AH, Beretta F, Batah SS, Castro IM, Paiva IM, Rodrigues T, Salina A, Martins R, Cebinelli GC, Bibo NL, Jorge DM, Nakaya HI, Zamboni DS, Leiria LO, Fabro AT, Alves-Filho JC, Arruda E, Louzada-Junior P, Oliveira RD, Cunha LD, Van Mol P, Vanderbeke L, Feys S, Wauters E, Brandolini L, Aramini A, Cunha FQ, Kohl J, Allegretti M, Lambrechts D, Wauters J, Proost P and Cunha TM. TITLE C5aR1 signaling triggers lung immunopathology in COVID-19 through neutrophil extracellular traps JOURNAL J Clin Invest 133 (12), e163105 (2023) PUBMED 37104043 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 351) AUTHORS Ratajczak MZ, Adamiak M, Abdelbaset-Ismail A, Bujko K, Thapa A, Chumak V, Franczak S, Brzezniakiewicz-Janus K, Ratajczak J and Kucia M. TITLE Intracellular complement (complosome) is expressed in hematopoietic stem/progenitor cells (HSPCs) and regulates cell trafficking, metabolism and proliferation in an intracrine Nlrp3 inflammasome-dependent manner JOURNAL Leukemia 37 (6), 1401-1405 (2023) PUBMED 37055506 REFERENCE 5 (residues 1 to 351) AUTHORS Kong LR, Chen XH, Sun Q, Zhang KY, Xu L, Ding L, Zhou YP, Zhang ZB, Lin JR and Gao PJ. TITLE Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway JOURNAL Cell Rep 42 (2), 112078 (2023) PUBMED 36735535 REMARK GeneRIF: Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway. REFERENCE 6 (residues 1 to 351) AUTHORS Clynes R, Maizes JS, Guinamard R, Ono M, Takai T and Ravetch JV. TITLE Modulation of immune complex-induced inflammation in vivo by the coordinate expression of activation and inhibitory Fc receptors JOURNAL J Exp Med 189 (1), 179-185 (1999) PUBMED 9874574 REFERENCE 7 (residues 1 to 351) AUTHORS Hopken UE, Lu B, Gerard NP and Gerard C. TITLE Impaired inflammatory responses in the reverse arthus reaction through genetic deletion of the C5a receptor JOURNAL J Exp Med 186 (5), 749-756 (1997) PUBMED 9271590 REFERENCE 8 (residues 1 to 351) AUTHORS Bozic CR, Lu B, Hopken UE, Gerard C and Gerard NP. TITLE Neurogenic amplification of immune complex inflammation JOURNAL Science 273 (5282), 1722-1725 (1996) PUBMED 8781237 REFERENCE 9 (residues 1 to 351) AUTHORS Hopken UE, Lu B, Gerard NP and Gerard C. TITLE The C5a chemoattractant receptor mediates mucosal defence to infection JOURNAL Nature 383 (6595), 86-89 (1996) PUBMED 8779720 REFERENCE 10 (residues 1 to 351) AUTHORS Gerard C, Bao L, Orozco O, Pearson M, Kunz D and Gerard NP. TITLE Structural diversity in the extracellular faces of peptidergic G-protein-coupled receptors. Molecular cloning of the mouse C5a anaphylatoxin receptor JOURNAL J Immunol 149 (8), 2600-2606 (1992) PUBMED 1401897 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB666123.1, BC125641.1 and AC156630.6. On Feb 15, 2005 this sequence version replaced NP_031603.1. Transcript Variant: This variant (1) and variant 2 encode the same protein. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BB666123.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..351 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="7" /map="7 8.77 cM" Protein 1..351 /product="C5a anaphylatoxin chemotactic receptor 1" /note="C5a anaphylatoxin receptor; C5a-R; complement component 5, receptor 1; C5a ligand" /calculated_mol_wt=38892 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 13 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 16 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 38..312 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Site 38..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 40..64 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:410628" Site 70..93 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 72..93 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Region 110..132 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 111..132 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 154..174 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 155..171 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Region 201..224 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 202..227 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 242..264 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 244..266 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 280..305 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 284..304 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 315 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 318 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 325 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 328 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 329..351 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 333 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 339 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" CDS 1..351 /gene="C5ar1" /gene_synonym="C5aR; C5r1; Cd88; D7Msu1" /coded_by="NM_007577.4:131..1186" /db_xref="CCDS:CCDS20846.1" /db_xref="GeneID:12273" /db_xref="MGI:MGI:88232" ORIGIN 1 mdpidnssfe inydhygtmd pnipadgihl pkrqpgdvaa liiysvvflv gvpgnalvvw 61 vtafearrav naiwflnlav adllsclalp vlfttvlnhn ywyfdataci vlpslillnm 121 yasilllati sadrfllvfk piwcqkvrgt glawmacgva wvlallltip sfvyreaykd 181 fysehtvcgi nygggsfpke kavailrlmv gfvlplltln icytflllrt wsrkatrstk 241 tlkvvmavvi cffifwlpyq vtgvmiawlp pssptlkrve klnslcvsla yinccvnpii 301 yvmagqgfhg rllrslpsii rnalsedsvg rdsktftpst tdtstrksqa v // LOCUS NP_001349264 447 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 53 [Mus musculus]. ACCESSION NP_001349264 XP_017173289 VERSION NP_001349264.1 DBSOURCE REFSEQ: accession NM_001362335.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 447) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 447) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 447) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 447) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 447) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 447) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 447) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 447) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 447) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 447) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173289.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.159897.1, SRR10662772.1815682.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..447 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..447 /product="CUGBP Elav-like family member 4 isoform 53" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=47525 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 56..443 /region_name="ELAV_HUD_SF" /note="ELAV/HuD family splicing factor; TIGR01661" /db_xref="CDD:273741" Region 141..221 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(143,145,147..148,151,170,172,174,182..184,186,216, 218) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" CDS 1..447 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362335.1:531..1874" /note="isoform 53 is encoded by transcript variant 54" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrge drklfvgmln kqqseddvrr lfeafgniee ctilrgpdgn 181 skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr mqqmagqmgm 241 fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma alnmnglaaa 301 pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan gihpypaqsp 361 taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregfvsf dnpasaqtai 421 qamngfqigm krlkvqlkrp kdanrpy // LOCUS NP_001074944 448 aa linear ROD 09-OCT-2023 DEFINITION nuclear autoantigenic sperm protein isoform 1 [Mus musculus]. ACCESSION NP_001074944 VERSION NP_001074944.1 DBSOURCE REFSEQ: accession NM_001081475.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 448) AUTHORS Bao Y, Lian M, Chen Y, Gu X, Cao K, Du X and Ju J. TITLE sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway JOURNAL J Immunol Res 2023, 4877700 (2023) PUBMED 37771504 REMARK GeneRIF: sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway. Publication Status: Online-Only REFERENCE 2 (residues 1 to 448) AUTHORS Li J, Jiang H, Mu Y, Wei Z, Ma A, Sun M, Zhao J, Zhu C and Chen X. TITLE SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex JOURNAL iScience 26 (7), 107042 (2023) PUBMED 37360696 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 448) AUTHORS Zhang Y, Yan H, Zhu J, Chen L, Wang H and Ju J. TITLE [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A] JOURNAL Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 38 (7), 577-583 (2022) PUBMED 35786450 REMARK GeneRIF: [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A]. REFERENCE 4 (residues 1 to 448) AUTHORS Zhang J, Du X, Wang H, Bao Y, Lian M, Xu Z and Ju J. TITLE A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse JOURNAL Mediators Inflamm 2021, 8175863 (2021) PUBMED 34720750 REMARK GeneRIF: A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse. Publication Status: Online-Only REFERENCE 5 (residues 1 to 448) AUTHORS Ju J, Xu J, Zhu Y, Fu X, Morel L and Xu Z. TITLE A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus JOURNAL Front Immunol 10, 637 (2019) PUBMED 31001259 REMARK GeneRIF: A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus. Publication Status: Online-Only REFERENCE 6 (residues 1 to 448) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 REFERENCE 7 (residues 1 to 448) AUTHORS Richardson RT, Bencic DC and O'Rand MG. TITLE Comparison of mouse and human NASP genes and expression in human transformed and tumor cell lines JOURNAL Gene 274 (1-2), 67-75 (2001) PUBMED 11674998 REFERENCE 8 (residues 1 to 448) AUTHORS Richardson RT, Batova IN, Widgren EE, Zheng LX, Whitfield M, Marzluff WF and O'Rand MG. TITLE Characterization of the histone H1-binding protein, NASP, as a cell cycle-regulated somatic protein JOURNAL J Biol Chem 275 (39), 30378-30386 (2000) PUBMED 10893414 REFERENCE 9 (residues 1 to 448) AUTHORS Hemberger M, Himmelbauer H, Ruschmann J, Zeitz C and Fundele R. TITLE cDNA subtraction cloning reveals novel genes whose temporal and spatial expression indicates association with trophoblast invasion JOURNAL Dev Biol 222 (1), 158-169 (2000) PUBMED 10885754 REFERENCE 10 (residues 1 to 448) AUTHORS Leimeister C, Bach A, Woolf AS and Gessler M. TITLE Screen for genes regulated during early kidney morphogenesis JOURNAL Dev Genet 24 (3-4), 273-283 (1999) PUBMED 10322635 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK083333.1 and AL669953.7. Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region, compared to variant 2. It encodes isoform 1, which is shorter than isoform 2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK083333.1, SRR1660815.131659.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..448 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 53.24 cM" Protein 1..448 /product="nuclear autoantigenic sperm protein isoform 1" /note="somatic histone binding protein NASP" /calculated_mol_wt=48635 Region 172..195 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 201..277 /region_name="TPR_12" /note="Tetratricopeptide repeat; pfam13424" /db_xref="CDD:315987" Region 203..240 /region_name="SHNi-TPR" /note="pfam10516" /db_xref="CDD:402238" Region 203..231 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(204,207..208,211..212,214,246,249..250,253..254, 256..257,278,281..282,285) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region 236..274 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" CDS 1..448 /gene="Nasp" /gene_synonym="5033430J04Rik; D4Ertd767e; Epcs32; Nasp-T" /coded_by="NM_001081475.1:108..1454" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS38852.1" /db_xref="GeneID:50927" /db_xref="MGI:MGI:1355328" ORIGIN 1 matestaaaa iaaelvsadk iedapapsts adkmesldvd seakkllglg qkhlvmgdip 61 aavnafqeaa sllgkkyget anecgeafff ygksllelar mengvlgnal egvhveeeeg 121 ektedeslve nndnvdeteg seeedrendk aeetpnesvl ekkslqenee eeignlelaw 181 dmldlakiif krqetkeaql yaaqahlklg evsvesenyi qaveefqacl slqeqyleah 241 drllaethyq lglaygynsq ydeavaqfgk sidviekrma vlheqmkeae gsfteyekei 301 eelkellpei rekiedakes qrsgnvaela lkatlvesst sgftpsgaga svsmiasrkp 361 tdgasssncv tdishlvrkk rkpeeesprk ddakkakqep evnggsgdav ssgkevsenm 421 eaeaenqaes qtaegtvesa atikstac // LOCUS NP_034265 804 aa linear ROD 09-OCT-2023 DEFINITION protein enabled homolog isoform 1 [Mus musculus]. ACCESSION NP_034265 VERSION NP_034265.2 DBSOURCE REFSEQ: accession NM_010135.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 804) AUTHORS Yun S, Cha SS and Kim JH. TITLE DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled JOURNAL Adv Biol Regul 88, 100943 (2023) PUBMED 36542983 REMARK GeneRIF: DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled. REFERENCE 2 (residues 1 to 804) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 3 (residues 1 to 804) AUTHORS Borriello L, Coste A, Traub B, Sharma VP, Karagiannis GS, Lin Y, Wang Y, Ye X, Duran CL, Chen X, Friedman M, Sosa MS, Sun D, Dalla E, Singh DK, Oktay MH, Aguirre-Ghiso JA, Condeelis JS and Entenberg D. TITLE Primary tumor associated macrophages activate programs of invasion and dormancy in disseminating tumor cells JOURNAL Nat Commun 13 (1), 626 (2022) PUBMED 35110548 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 804) AUTHORS Hooper JE, Jones KL, Smith FJ, Williams T and Li H. TITLE An Alternative Splicing Program for Mouse Craniofacial Development JOURNAL Front Physiol 11, 1099 (2020) PUBMED 33013468 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 804) AUTHORS Lee S, Sears MJ, Zhang Z, Li H, Salhab I, Krebs P, Xing Y, Nah HD, Williams T and Carstens RP. TITLE Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk JOURNAL Development 147 (21) (2020) PUBMED 32253237 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 804) AUTHORS Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T and Sudol M. TITLE The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled JOURNAL J Biol Chem 272 (52), 32869-32877 (1997) PUBMED 9407065 REFERENCE 7 (residues 1 to 804) AUTHORS Bedford MT, Chan DC and Leder P. TITLE FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands JOURNAL EMBO J 16 (9), 2376-2383 (1997) PUBMED 9171351 REFERENCE 8 (residues 1 to 804) AUTHORS Yamabhai M and Kay BK. TITLE Examining the specificity of Src homology 3 domain--ligand interactions with alkaline phosphatase fusion proteins JOURNAL Anal Biochem 247 (1), 143-151 (1997) PUBMED 9126384 REFERENCE 9 (residues 1 to 804) AUTHORS Gertler FB, Niebuhr K, Reinhard M, Wehland J and Soriano P. TITLE Mena, a relative of VASP and Drosophila Enabled, is implicated in the control of microfilament dynamics JOURNAL Cell 87 (2), 227-239 (1996) PUBMED 8861907 REFERENCE 10 (residues 1 to 804) AUTHORS Sazuka T, Tomooka Y, Kathju S, Ikawa Y, Noda M and Kumar S. TITLE Identification of a developmentally regulated gene in the mouse central nervous system which encodes a novel proline rich protein JOURNAL Biochim Biophys Acta 1132 (3), 240-248 (1992) PUBMED 1420303 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122204.3 and AC165229.7. On Mar 20, 2007 this sequence version replaced NP_034265.1. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U72523.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..804 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 84.93 cM" Protein 1..804 /product="protein enabled homolog isoform 1" /note="protein enabled homolog; NPC derived proline rich protein 1" /calculated_mol_wt=85922 Region 5..112 /region_name="EVH1_Ena_VASP-like" /note="Enabled/VASP family EVH1 domain; cd01207" /db_xref="CDD:269918" Site order(16,23,69,71,77,79,81) /site_type="other" /note="proline-rich peptide binding site [polypeptide binding]" /db_xref="CDD:269918" Region 143..166 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site 144 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:15345747; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 175..209 /region_name="7 X 5 AA tandem repeats of [LM]-E-[QR]-[EQ]-[QR]" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 245..287 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site 255 /site_type="phosphorylation" /note="Phosphoserine, by PKA. /evidence=ECO:0000269|PubMed:15066263, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region <321..541 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Site 383 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site 559 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000269|PubMed:12672821; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 619..645 /region_name="WH2_hVASP-like" /note="Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins; cd22185" /db_xref="CDD:409225" Region 625..801 /region_name="EVH2" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 625..645 /region_name="EVH2 block A" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site order(626..627,629..630,633,635..639) /site_type="other" /note="actin-binding motif [polypeptide binding]" /db_xref="CDD:409225" Region 634..637 /region_name="KLKR" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 635..638 /region_name="actin-binding sequence" /note="actin-binding sequence [structural motif]" /db_xref="CDD:409225" Region 641..677 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 676..693 /region_name="EVH2 block B" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 693..766 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site 740 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8N8S7; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Site 742 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8N8S7; propagated from UniProtKB/Swiss-Prot (Q03173.2)" Region 765..800 /region_name="VASP_tetra" /note="VASP tetramerisation domain; pfam08776" /db_xref="CDD:430211" Region 767..801 /region_name="EVH2 block C" /note="propagated from UniProtKB/Swiss-Prot (Q03173.2)" CDS 1..804 /gene="Enah" /gene_synonym="Mena; NDPP-1; Ndpp1; WBP8" /coded_by="NM_010135.4:449..2863" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS35811.1" /db_xref="GeneID:13800" /db_xref="MGI:MGI:108360" ORIGIN 1 mseqsicqar aavmvyddan kkwvpaggst gfsrvhiyhh tgnntfrvvg rkiqdhqvvi 61 ncaipkglky nqatqtfhqw rdarqvygln fgskedanvf asammhalev lnsqeaaqsk 121 vtatqdstnl rcifcgptlp rqnsqlpaqv qngpsqeele iqrrqlqeqq rqkelererm 181 ererlererl ererlererl eqeqlerqrq erehverler erlerlerer qerererleq 241 lereqvewer errmsnaaps sdsslssapl peysscqpps apppsyakvi sapvsdatpd 301 yavvtalppt stpptpplrh aatrfatslg safhpvlphy atvprplnkn srpsspvntp 361 ssqppaaksc awptsnfspl ppsppimiss ppgkatgprp vlpvcvsspv pqmppsptap 421 ngsldsvtyp vsppptsgpa appppppppp pppppppplp ppplpplasl shcgsqaspp 481 pgtplastps skpsvlpsps aaapasaetp lnpelgdssa sepglqaasq paesptpqgl 541 vlgppapppp pplpsgpaya salppppgpp pppplpstgp pppppppppl pnqapppppp 601 ppapplpasg ifsgstsedn rpltglaaai agaklrkvsr vedgsfpggg ntgsvslass 661 kadagrgngp lplggsglme emsallarrr riaekgstie teqkedrned aepitakaps 721 tstpeptrkp wertntmngs kspvisrpks tpssqpsang vqtegldydr lkqdildemr 781 kelaklkeel idairqelsk snta // LOCUS NP_036050 657 aa linear ROD 09-OCT-2023 DEFINITION broad substrate specificity ATP-binding cassette transporter ABCG2 [Mus musculus]. ACCESSION NP_036050 VERSION NP_036050.1 DBSOURCE REFSEQ: accession NM_011920.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 657) AUTHORS Notsu T, Kurata Y, Ninomiya H, Taufiq F, Komatsu K, Miake J, Sawano T, Tsuneto M, Shirayoshi Y and Hisatome I. TITLE Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells JOURNAL Hypertens Res 46 (10), 2368-2377 (2023) PUBMED 37592041 REMARK GeneRIF: Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells. REFERENCE 2 (residues 1 to 657) AUTHORS Harby SA, Khalil NA, El-Sayed NS, Thabet EH, Saleh SR and Fathelbab MH. TITLE Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine JOURNAL Naunyn Schmiedebergs Arch Pharmacol 396 (10), 2627-2636 (2023) PUBMED 37067582 REMARK GeneRIF: Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine. REFERENCE 3 (residues 1 to 657) AUTHORS Blanco-Paniagua E, Alvarez-Fernandez L, Rodriguez-Alonso A, Millan-Garcia A, Alvarez AI and Merino G. TITLE Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin JOURNAL Antimicrob Agents Chemother 67 (5), e0009523 (2023) PUBMED 37078871 REMARK GeneRIF: Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin. REFERENCE 4 (residues 1 to 657) AUTHORS Wu C, Xiao Y, Wu C, Xie D, Luo M, Yao D, Chen M and Lu D. TITLE Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha JOURNAL Xenobiotica 53 (3), 215-222 (2023) PUBMED 37039301 REMARK GeneRIF: Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha. REFERENCE 5 (residues 1 to 657) AUTHORS Alvarez-Fernandez L, Gomez-Gomez A, Haro N, Garcia-Lino AM, Alvarez AI, Pozo OJ and Merino G. TITLE ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites JOURNAL J Pineal Res 74 (2), e12849 (2023) PUBMED 36562106 REMARK GeneRIF: ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites. REFERENCE 6 (residues 1 to 657) AUTHORS Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF and Kornblum HI. TITLE A genetic analysis of neural progenitor differentiation JOURNAL Neuron 29 (2), 325-339 (2001) PUBMED 11239426 REFERENCE 7 (residues 1 to 657) AUTHORS Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH and Schinkel AH. TITLE Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan JOURNAL J Natl Cancer Inst 92 (20), 1651-1656 (2000) PUBMED 11036110 REFERENCE 8 (residues 1 to 657) AUTHORS Schriml LM and Dean M. TITLE Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus JOURNAL Genomics 64 (1), 24-31 (2000) PUBMED 10708515 REFERENCE 9 (residues 1 to 657) AUTHORS Allen JD, Brinkhuis RF, Wijnholds J and Schinkel AH. TITLE The mouse Bcrp1/Mxr/Abcp gene: amplification and overexpression in cell lines selected for resistance to topotecan, mitoxantrone, or doxorubicin JOURNAL Cancer Res 59 (17), 4237-4241 (1999) PUBMED 10485464 REFERENCE 10 (residues 1 to 657) AUTHORS Allikmets R, Schriml LM, Hutchinson A, Romano-Spica V and Dean M. TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance JOURNAL Cancer Res 58 (23), 5337-5339 (1998) PUBMED 9850061 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121855.3, CO039662.1, AC121859.2, AK087830.1, AF103875.1 and AI428558.1. Summary: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no full-length transcript from the C57BL/6J reference strain was available. The extent of this transcript is supported by its existence in a single strain, C57BL/6NCrl. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053730.1, SRR7652917.858451.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..657 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 27.82 cM" Protein 1..657 /product="broad substrate specificity ATP-binding cassette transporter ABCG2" /EC_number="7.6.2.2" /note="mitoxantrone resistance protein 1; ATP-binding cassette sub-family G member 2; breast cancer resistance protein 1 homolog; urate exporter; ATP-binding cassette, sub-family G (WHITE), member 2" /calculated_mol_wt=72891 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Region 46..651 /region_name="3a01204" /note="The Eye Pigment Precursor Transporter (EPP) Family protein; TIGR00955" /db_xref="CDD:273361" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 429..449 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 478..498 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 507..527 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 536..556 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 596 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 633..653 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" CDS 1..657 /gene="Abcg2" /gene_synonym="ABC15; ABCP; BCRP; Bcrp1; MXR; MXR1" /coded_by="NM_011920.3:457..2430" /db_xref="CCDS:CCDS20195.1" /db_xref="GeneID:26357" /db_xref="MGI:MGI:1347061" ORIGIN 1 msssndhvlv pmsqrnnngl prmnsravrt laegdvlsfh hityrvkvks gflvrktvek 61 eilsdingim kpglnailgp tgggksslld vlaarkdpkg lsgdvlinga pqpahfkccs 121 gyvvqddvvm gtltvrenlq fsaalrlptt mknhekneri ntiikelgle kvadskvgtq 181 firgisgger krtsigmeli tdpsilflde pttgldssta navllllkrm skqgrtiifs 241 ihqprysifk lfdsltllas gklvfhgpaq kaleyfasag yhcepynnpa dffldvingd 301 ssavmlnree qdneanktee pskgekpvie nlsefyinsa iygetkaeld qlpgaqekkg 361 tsafkepvyv tsfchqlrwi arrsfknllg npqasvaqli vtvilgliig aiyfdlkyda 421 agmqnragvl fflttnqcfs svsavelfvv ekklfiheyi sgyyrvssyf fgkvmsdllp 481 mrflpsvift cilyfmlglk ktvdaffimm ftlimvayta ssmalaiatg qsvvsvatll 541 mtiafvfmml fsgllvnlrt igpwlswlqy fsiprygfta lqyneflgqe fcpgfnvtdn 601 stcvnsyaic tgneylinqg ielspwglwk nhvalacmii ifltiaylkl lflkkys // LOCUS NP_032999 168 aa linear ROD 09-OCT-2023 DEFINITION pleiotrophin precursor [Mus musculus]. ACCESSION NP_032999 VERSION NP_032999.1 DBSOURCE REFSEQ: accession NM_008973.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 168) AUTHORS Li H, Xu L, Jiang W, Qiu X, Xu H, Zhu F, Hu Y, Liang S, Cai C, Qiu W, Lu Z, Cui Y and Tang C. TITLE Pleiotrophin ameliorates age-induced adult hippocampal neurogenesis decline and cognitive dysfunction JOURNAL Cell Rep 42 (9), 113022 (2023) PUBMED 37610873 REMARK GeneRIF: Pleiotrophin ameliorates age-induced adult hippocampal neurogenesis decline and cognitive dysfunction. REFERENCE 2 (residues 1 to 168) AUTHORS Zhou Y, Li H, Liu X, Chi X, Gu Z, Cui B, Bergquist J, Wang B, Tian G, Yang C, Xu F and Mi J. TITLE The Combination of Quantitative Proteomics and Systems Genetics Analysis Reveals that PTN Is Associated with Sleep-Loss-Induced Cognitive Impairment JOURNAL J Proteome Res 22 (9), 2936-2949 (2023) PUBMED 37611228 REMARK GeneRIF: The Combination of Quantitative Proteomics and Systems Genetics Analysis Reveals that PTN Is Associated with Sleep-Loss-Induced Cognitive Impairment. REFERENCE 3 (residues 1 to 168) AUTHORS Ganguly D, Schmidt MO, Coleman M, Ngo TC, Sorrelle N, Dominguez ATA, Murimwa GZ, Toombs JE, Lewis C, Fang YV, Valdes-Mora F, Gallego-Ortega D, Wellstein A and Brekken RA. TITLE Pleiotrophin drives a prometastatic immune niche in breast cancer JOURNAL J Exp Med 220 (5) (2023) PUBMED 36828390 REMARK GeneRIF: Pleiotrophin drives a prometastatic immune niche in breast cancer. REFERENCE 4 (residues 1 to 168) AUTHORS Wang X, Zhou D, Zhou W, Liu J, Xue Q, Huang Y, Cheng C, Wang Y, Chang J, Wang P and Miao C. TITLE Clematichinenoside AR inhibits the pathology of rheumatoid arthritis by blocking the circPTN/miR-145-5p/FZD4 signal axis JOURNAL Int Immunopharmacol 113 (Pt A), 109376 (2022) PUBMED 36279670 REMARK GeneRIF: Clematichinenoside AR inhibits the pathology of rheumatoid arthritis by blocking the circPTN/miR-145-5p/FZD4 signal axis. REFERENCE 5 (residues 1 to 168) AUTHORS Drake KA, Chaney C, Patel M, Das A, Bittencourt J, Cohn M and Carroll TJ. TITLE Transcription Factors YAP/TAZ and SRF Cooperate To Specify Renal Myofibroblasts in the Developing Mouse Kidney JOURNAL J Am Soc Nephrol 33 (9), 1694-1707 (2022) PUBMED 35918150 REMARK Erratum:[J Am Soc Nephrol. 2023 Mar 1;34(3):515-516. PMID: 36857501] REFERENCE 6 (residues 1 to 168) AUTHORS Li YS, Hoffman RM, Le Beau MM, Espinosa R 3rd, Jenkins NA, Gilbert DJ, Copeland NG and Deuel TF. TITLE Characterization of the human pleiotrophin gene. Promoter region and chromosomal localization JOURNAL J Biol Chem 267 (36), 26011-26016 (1992) PUBMED 1464612 REFERENCE 7 (residues 1 to 168) AUTHORS Katoh K, Takeshita S, Sato M, Ito T and Amann E. TITLE Genomic organization of the mouse OSF-1 gene JOURNAL DNA Cell Biol 11 (10), 735-743 (1992) PUBMED 1457042 REFERENCE 8 (residues 1 to 168) AUTHORS Nurcombe V, Fraser N, Herlaar E and Heath JK. TITLE MK: a pluripotential embryonic stem-cell-derived neuroregulatory factor JOURNAL Development 116 (4), 1175-1183 (1992) PUBMED 1295735 REFERENCE 9 (residues 1 to 168) AUTHORS Li YS, Gurrieri M and Deuel TF. TITLE Pleiotrophin gene expression is highly restricted and is regulated by platelet-derived growth factor JOURNAL Biochem Biophys Res Commun 184 (1), 427-432 (1992) PUBMED 1373617 REFERENCE 10 (residues 1 to 168) AUTHORS Naito A, Yoshikura H and Iwamoto A. TITLE Similarity of the genomic structure between the two members in a new family of heparin-binding factors JOURNAL Biochem Biophys Res Commun 183 (2), 701-707 (1992) PUBMED 1550576 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK011346.1, AK011699.1 and AI838962.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC061695.1, AK011346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..168 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 15.48 cM" Protein 1..168 /product="pleiotrophin precursor" /note="osteoblast-specific factor 1; heparin-binding neutrophic factor; heparin-binding brain mitogen; heparin-binding growth factor 8; heparin-binding growth-associated molecule" /calculated_mol_wt=15299 sig_peptide 1..32 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3588 mat_peptide 33..168 /product="Pleiotrophin. /id=PRO_0000024660" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" /calculated_mol_wt=15299 Region 47..131 /region_name="PTN_MK_N" /note="PTN/MK heparin-binding protein family, N-terminal domain; cl02505" /db_xref="CDD:445801" Region 92..99 /region_name="Chondroitin sulfate binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 123..131 /region_name="Chondroitin sulfate binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 139..168 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 147..168 /region_name="Chondroitin sulfate A binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" CDS 1..168 /gene="Ptn" /gene_synonym="HARP; HB-GAM; HBBM; HBBN; HBGF-8; HBNF; OSF; Osf-1; Osf1" /coded_by="NM_008973.3:289..795" /db_xref="CCDS:CCDS20005.1" /db_xref="GeneID:19242" /db_xref="MGI:MGI:97804" ORIGIN 1 mssqqyqqqr rkfaaaflal ifilaavdta eagkkekpek kvkksdcgew qwsvcvptsg 61 dcglgtregt rtgaeckqtm ktqrckipcn wkkqfgaeck yqfqawgecd lntalktrtg 121 slkralhnad cqktvtiskp cgkltkpkpq aeskkkkkeg kkqekmld // LOCUS NP_918944 681 aa linear ROD 09-OCT-2023 DEFINITION epithelial splicing regulatory protein 1 isoform 1 [Mus musculus]. ACCESSION NP_918944 VERSION NP_918944.2 DBSOURCE REFSEQ: accession NM_194055.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 681) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 2 (residues 1 to 681) AUTHORS Zhao Y, Li M, Wu W, Miao W and Liu H. TITLE Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization JOURNAL Front Immunol 14, 1161273 (2023) PUBMED 37090731 REMARK GeneRIF: Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization. Publication Status: Online-Only REFERENCE 3 (residues 1 to 681) AUTHORS Peart NJ, Hwang JY, Quesnel-Vallieres M, Sears MJ, Yang Y, Stoilov P, Barash Y, Park JW, Lynch KW and Carstens RP. TITLE The global Protein-RNA interaction map of ESRP1 defines a post-transcriptional program that is essential for epithelial cell function JOURNAL iScience 25 (10), 105205 (2022) PUBMED 36238894 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 681) AUTHORS Spruce T, Plass M, Gohr A, Ray D, Martinez de Lagran M, Rot G, Novoa A, Burguera D, Permanyer J, Miret M, Zheng H, Swanson MS, Morris Q, Mallo M, Dierssen M, Hughes TR, Pernaute B and Irimia M. TITLE The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians JOURNAL PLoS Biol 20 (4), e3001615 (2022) PUBMED 35476669 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 681) AUTHORS Yu L, Zhang H, Guan X, Qin D, Zhou J and Wu X. TITLE Loss of ESRP1 blocks mouse oocyte development and leads to female infertility JOURNAL Development 148 (2) (2021) PUBMED 33318146 REMARK GeneRIF: Loss of ESRP1 blocks mouse oocyte development and leads to female infertility. Publication Status: Online-Only REFERENCE 6 (residues 1 to 681) AUTHORS Warzecha CC, Sato TK, Nabet B, Hogenesch JB and Carstens RP. TITLE ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing JOURNAL Mol Cell 33 (5), 591-601 (2009) PUBMED 19285943 REMARK GeneRIF: Epithelial splicing regulatory proteins 1/2 (ESRP1/2) are epithelial cell-type-specific regulators of FGFR2 splicing. REFERENCE 7 (residues 1 to 681) AUTHORS Sherwood RI, Jitianu C, Cleaver O, Shaywitz DA, Lamenzo JO, Chen AE, Golub TR and Melton DA. TITLE Prospective isolation and global gene expression analysis of definitive and visceral endoderm JOURNAL Dev Biol 304 (2), 541-555 (2007) PUBMED 17328885 REFERENCE 8 (residues 1 to 681) AUTHORS Evsikov AV, Graber JH, Brockman JM, Hampl A, Holbrook AE, Singh P, Eppig JJ, Solter D and Knowles BB. TITLE Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo JOURNAL Genes Dev 20 (19), 2713-2727 (2006) PUBMED 17015433 REFERENCE 9 (residues 1 to 681) AUTHORS McKee AE, Minet E, Stern C, Riahi S, Stiles CD and Silver PA. TITLE A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain JOURNAL BMC Dev Biol 5, 14 (2005) PUBMED 16033648 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 681) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK140848.1, CJ081693.1, AK042164.1, DV657411.1, DV648780.1 and AA647208.1. On Jan 19, 2008 this sequence version replaced NP_918944.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..681 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 5.11 cM" Protein 1..681 /product="epithelial splicing regulatory protein 1 isoform 1" /note="RNA binding motif protein 35A" /calculated_mol_wt=75506 Region 29..>145 /region_name="DnaQ_like_exo" /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily; cl10012" /db_xref="CDD:447876" Region 216..308 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" Region 310..419 /region_name="RRM2_ESRP1" /note="RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins; cd12739" /db_xref="CDD:410136" Region 444..524 /region_name="RRM3_ESRP1_ESRP2" /note="RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins; cd12742" /db_xref="CDD:410138" Site 543 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H6T0; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" Site 582 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0000250|UniProtKB:Q6NXG1; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" Region 633..>672 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..681 /gene="Esrp1" /gene_synonym="2210008M09Rik; A630065D16; Rbm35a" /coded_by="NM_194055.3:348..2393" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS51119.1" /db_xref="GeneID:207920" /db_xref="MGI:MGI:1917326" ORIGIN 1 mtaspdylvv lfgitagatg aklgsdekel illlwkvvdl ankkvgqlhe vlvrpdqlel 61 tedckeetki daenlssapq ldqalrqfnq svsnelnigv gtsfclctdg qlhirqilhp 121 easkknvllp ecfysffdlr kefkkccpgs pdidkldvaa mteslnfeks dsvsrygasq 181 vedmgniila misepynhrf sdpervnykf esgtcskmel iddstvvrar glpwqssdqd 241 iarffkglni akggaalcln aqgrrngeal vrfvseehrd lalqrhkhhm gtryievyka 301 tgedflkiag gtsnevaqfl skenqvivrm rglpftatae evvaffgqhc pitggkegil 361 fvtypdgrpt gdafvlface eyaqnalrkh kellgkryie lfrstaaevq qvlnrfssap 421 liplptppii pvlpqqfvpp tnvrdcirlr glpyaatied ildflgefst dirthgvhmv 481 lnhqgrpsgd afiqmkstdr afmaaqkyhk ktmkdryvev fqcsaeemnf vlmggtlnrn 541 glspppcklp clsppsytfp aptaviptea aiyqpsllln pralqpstay ypagtqlfmn 601 ytayypsppg spnslgyfpt aanlssvppq pgtvvrmqgl ayntgvkeil nffqgyqyat 661 edglvhtndq artlpkewvc i // LOCUS NP_001297449 1167 aa linear ROD 09-OCT-2023 DEFINITION zinc finger protein 423 isoform 2 [Mus musculus]. ACCESSION NP_001297449 XP_006531603 VERSION NP_001297449.1 DBSOURCE REFSEQ: accession NM_001310520.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1167) AUTHORS Roth L, Johann K, Hones GS, Oelkrug R, Wagner L, Hoffmann A, Krohn K, Moeller LC, Weiner J, Heiker JT, Kloting N, Tonjes A, Stumvoll M, Bluher M, Mittag J and Krause K. TITLE Thyroid hormones regulate Zfp423 expression in regionally distinct adipose depots through direct and cell-autonomous action JOURNAL Cell Rep 42 (2), 112088 (2023) PUBMED 36753417 REMARK GeneRIF: Thyroid hormones regulate Zfp423 expression in regionally distinct adipose depots through direct and cell-autonomous action. REFERENCE 2 (residues 1 to 1167) AUTHORS Shao M, Zhang Q, Truong A, Shan B, Vishvanath L, Li L, Seale P and Gupta RK. TITLE ZFP423 controls EBF2 coactivator recruitment and PPARgamma occupancy to determine the thermogenic plasticity of adipocytes JOURNAL Genes Dev 35 (21-22), 1461-1474 (2021) PUBMED 34620682 REMARK GeneRIF: ZFP423 controls EBF2 coactivator recruitment and PPARgamma occupancy to determine the thermogenic plasticity of adipocytes. REFERENCE 3 (residues 1 to 1167) AUTHORS Han S, Okawa S, Wilkinson GA, Ghazale H, Adnani L, Dixit R, Tavares L, Faisal I, Brooks MJ, Cortay V, Zinyk D, Sivitilli A, Li S, Malik F, Ilnytskyy Y, Angarica VE, Gao J, Chinchalongporn V, Oproescu AM, Vasan L, Touahri Y, David LA, Raharjo E, Kim JW, Wu W, Rahmani W, Chan JA, Kovalchuk I, Attisano L, Kurrasch D, Dehay C, Swaroop A, Castro DS, Biernaskie J, Del Sol A and Schuurmans C. TITLE Proneural genes define ground-state rules to regulate neurogenic patterning and cortical folding JOURNAL Neuron 109 (18), 2847-2863 (2021) PUBMED 34407390 REFERENCE 4 (residues 1 to 1167) AUTHORS Casoni F, Croci L, Vincenti F, Podini P, Riba M, Massimino L, Cremona O and Consalez GG. TITLE ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus JOURNAL Development 147 (22) (2020) PUBMED 33046507 REMARK GeneRIF: ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1167) AUTHORS Alcaraz WA, Liu Z, Valdes P, Chen E, Valdovino Gonzalez AG, Wade S, Wong C, Kim E, Chen HM, Ponn A, Concepcion D and Hamilton BA. TITLE Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice JOURNAL G3 (Bethesda) 10 (11), 4241-4247 (2020) PUBMED 32967895 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1167) AUTHORS Warming S, Liu P, Suzuki T, Akagi K, Lindtner S, Pavlakis GN, Jenkins NA and Copeland NG. TITLE Evi3, a common retroviral integration site in murine B-cell lymphoma, encodes an EBFAZ-related Kruppel-like zinc finger protein JOURNAL Blood 101 (5), 1934-1940 (2003) PUBMED 12393497 REFERENCE 7 (residues 1 to 1167) AUTHORS Okazaki N, Kikuno R, Ohara R, Inamoto S, Aizawa H, Yuasa S, Nakajima D, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 10 (1), 35-48 (2003) PUBMED 12693553 REFERENCE 8 (residues 1 to 1167) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 9 (residues 1 to 1167) AUTHORS Araki K, Imaizumi T, Sekimoto T, Yoshinobu K, Yoshimuta J, Akizuki M, Miura K, Araki M and Yamamura K. TITLE Exchangeable gene trap using the Cre/mutated lox system JOURNAL Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999) PUBMED 10512203 REFERENCE 10 (residues 1 to 1167) AUTHORS Tsai RY and Reed RR. TITLE Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development JOURNAL J Neurosci 17 (11), 4159-4169 (1997) PUBMED 9151733 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK133497.1, BC079586.1 and AI845255.1. On Jul 15, 2015 this sequence version replaced XP_006531603.1. Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK133497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164138, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1167 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 42.29 cM" Protein 1..1167 /product="zinc finger protein 423 isoform 2" /note="early B-cell factor associated zinc finger protein; olf1/EBF-associated zinc finger protein; smad- and Olf-interacting zinc finger protein; zinc finger protein 104; early B-cell factor associated zinc finger transcription factor" /calculated_mol_wt=131449 Region 23..43 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(23,26,39,43) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(28,30,32,34..35,38..39,42,56,58,62..63,66..67,70,84, 86,88,90..91,94..95,98) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 51..71 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 77..478 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 79..99 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 107..127 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 148..167 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 294..315 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(294,297,311,315) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(299,302,304,306..307,310..311,314,331,333,337..338, 341..342,349,370,372,374,376..377,380..381,384) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 326..350 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 365..384 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 547..567 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(547,550,563,567) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 577..598 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 605..626 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(605,608,621,626) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(610,612,614,616..617,620..621,624,640,642,646..647, 650..651,655,671,673,675,677..678,681..682,685) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 635..656 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 666..686 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 692..710 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 771..792 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(771,774,787,792) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 815..835 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(815,818,831,835) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 844..864 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 1083..1103 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1083,1086,1099,1103) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(1088,1090,1092,1094..1095,1098..1099,1102,1119,1121, 1125..1126,1129..1130,1134,1149,1151,1153,1155..1156, 1159..1160) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 1114..1135 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 1144..1160 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..1167 /gene="Zfp423" /gene_synonym="ataxia1; Ebfaz; mKIAA0760; nur12; Roaz; Zfp104; Znf423" /coded_by="NM_001310520.1:163..3666" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS80911.1" /db_xref="GeneID:94187" /db_xref="MGI:MGI:1891217" ORIGIN 1 migdgcdlgl geeeggtglp ypcqfcdksf irlsylkrhe qihsdklpfk ctfcsrlfkh 61 krsrdrhikl htgdkkyhch eceaafsrsd hlkihlkths sskpfkcsvc krgfsstssl 121 qshmqahkkn kehlakseke akkddfmcdy cedtfsqtee lekhvltlhp qlsekadlqc 181 ihcpevfvde stllahihqa hanqkhkcpm cpeqfssveg vychldshrq pdssnhsvsp 241 dpvlgsvasm ssatpdssas vergstpdst lkplrgqkkm rddgqswpkv vyscpycskr 301 dftslavlei hlktihadkp qqshtcqicl dsmptlynln ehvrklhksh aypvmqfgni 361 safhcnycpe mfadinslqe hirvshcgpn anppdgnnaf fcnqcsmgfl tessltehiq 421 qahcsvgstk lespvvqptq sfmevyscpy ctnspifgsi lkltkhiken hkniplahsk 481 kskaeqspvs sdvevsspkr qrlsgsansi sngeypcnqc dlkfsnfesf qthlklhlel 541 llrkqacpqc kedfdsqesl lqhltvhymt tsthyvcesc dkqfssvddl qkhlldmhtf 601 vlyhctlcqe vfdskvsiqv hlavkhsnek kmyrctacnw dfrkeadlqv hvkhshlgnp 661 akahkcifcg etfstevelq chitthskky ncrfcskafh avillekhlr ekhcvfdaaa 721 engtangvpp tstkkaepad lqgmllknpe apnsheased dvdasepmyg cdicgaaytm 781 evllqnhrlr dhnirpgedd gsrkkaefik gshkcnvcsr tffsenglre hlqthrgpak 841 hymcpicger fpslltlteh kvthsksldt gtcrickmpl qseeefiehc qmhpdlrnsl 901 tgfrcvvcmq tvtstlelki hgtfhmqkla gssaasspng qglqklykca lclkefrskq 961 dlvrldvngl pyglcagcma rsangqvggl appepadrpc aglrcpecnv kfesaedles 1021 hmqvdhrdlt petsgprkga qtspvprkkt yqcikcqmtf enereiqihv anhmieegin 1081 hecklcnqmf dspakllchl iehsfegmgg tfkcpvcftv fvqanklqqh ifavhgqedk 1141 iydcsqcpqk fffqtelqnh tmsqhaq // LOCUS NP_001277686 1050 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 7 isoform a precursor [Mus musculus]. ACCESSION NP_001277686 XP_006528777 VERSION NP_001277686.1 DBSOURCE REFSEQ: accession NM_001290757.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1050) AUTHORS Huang Y, Liu D, Chen M, Xu S, Peng Q, Zhu Y, Long J, Liu T, Deng Z, Xie H, Li J, Liu F and Xiao W. TITLE TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea JOURNAL PeerJ 11, e15976 (2023) PUBMED 37780385 REMARK GeneRIF: TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1050) AUTHORS Miles MA, Liong S, Liong F, Coward-Smith M, Trollope GS, Oseghale O, Erlich JR, Brooks RD, Logan JM, Hickey S, Wang H, Bozinovski S, O'Leary JJ, Brooks DA and Selemidis S. TITLE TLR7 promotes chronic airway disease in RSV-infected mice JOURNAL Front Immunol 14, 1240552 (2023) PUBMED 37795093 REMARK GeneRIF: TLR7 promotes chronic airway disease in RSV-infected mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1050) AUTHORS Cosgrove HA, Gingras S, Kim M, Bastacky S, Tilstra JS and Shlomchik MJ. TITLE B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice JOURNAL JCI Insight 8 (16), e172219 (2023) PUBMED 37606042 REMARK GeneRIF: B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1050) AUTHORS Kim J, Ha S, Son M, Kim D, Kim MJ, Kim B, Kim D, Chung HY and Chung KW. TITLE TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells JOURNAL Cell Commun Signal 21 (1), 215 (2023) PUBMED 37596656 REMARK GeneRIF: TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1050) AUTHORS Jackson WD, Giacomassi C, Ward S, Owen A, Luis TC, Spear S, Woollard KJ, Johansson C, Strid J and Botto M. TITLE TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity JOURNAL Elife 12, e85647 (2023) PUBMED 37566453 REMARK GeneRIF: TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1050) AUTHORS Heil F, Hemmi H, Hochrein H, Ampenberger F, Kirschning C, Akira S, Lipford G, Wagner H and Bauer S. TITLE Species-specific recognition of single-stranded RNA via toll-like receptor 7 and 8 JOURNAL Science 303 (5663), 1526-1529 (2004) PUBMED 14976262 REMARK GeneRIF: mediates species-specific recognition of GU-rich single-stranded RNA (ssRNA); data suggest that ssRNA represents a physiological ligand for TLR7 REFERENCE 7 (residues 1 to 1050) AUTHORS Diebold SS, Kaisho T, Hemmi H, Akira S and Reis e Sousa C. TITLE Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA JOURNAL Science 303 (5663), 1529-1531 (2004) PUBMED 14976261 REMARK GeneRIF: results identify ssRNA as a ligand for TLR7 and suggest that cells of the innate immune system sense endosomal ssRNA to detect infection by RNA viruses REFERENCE 8 (residues 1 to 1050) AUTHORS Pinhal-Enfield G, Ramanathan M, Hasko G, Vogel SN, Salzman AL, Boons GJ and Leibovich SJ. TITLE An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors JOURNAL Am J Pathol 163 (2), 711-721 (2003) PUBMED 12875990 REMARK GeneRIF: Results suggest novel signaling pathway in murine macrophages involving synergy between toll-like receptors 2, 4, 7, and 9 and adenosine A(2A)receptors, that up-regulates VEGF and down-regulates TNFalpha expression, thus acting as an angiogenic switch. REFERENCE 9 (residues 1 to 1050) AUTHORS Jurk,M., Heil,F., Vollmer,J., Schetter,C., Krieg,A.M., Wagner,H., Lipford,G. and Bauer,S. TITLE Human TLR7 or TLR8 independently confer responsiveness to the antiviral compound R-848 JOURNAL Nat Immunol 3 (6), 499 (2002) PUBMED 12032557 REFERENCE 10 (residues 1 to 1050) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL731735.14, AK036549.1 and BY543663.1. On Mar 19, 2014 this sequence version replaced XP_006528777.1. Transcript Variant: This variant (4) lacks two alternate exons and uses an alternate splice site in the 5' region, and initiates translation from an alternate upstream start codon, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK156908.1, AF334943.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1050 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 78.31 cM" Protein 1..1050 /product="toll-like receptor 7 isoform a precursor" /note="Toll like receptor 7" /calculated_mol_wt=118668 sig_peptide 1..26 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" /calculated_mol_wt=3187 Region <32..>243 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 42..64 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 48..69 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 65..87 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 66 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 69 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 70..90 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 89..111 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 91..128 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 126..149 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 129..152 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 151..170 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 167 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 171..195 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 174..>786 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Region 174..205 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 203..226 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 206..226 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 215 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 227..250 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 228..247 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 248..273 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 251..291 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 275..289 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 290..312 /region_name="LRR 11" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 292..315 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 314..337 /region_name="LRR 12" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 316..341 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..364 /region_name="LRR 13" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 342..398 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 369..392 /region_name="LRR 14" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 387 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 396..419 /region_name="LRR 15" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 399..422 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 421..443 /region_name="LRR 16" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 493..516 /region_name="LRR 17" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 497..519 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 517..542 /region_name="LRR 18" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 520..544 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 524 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 535 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 543..565 /region_name="LRR 19" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 545..568 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 567..589 /region_name="LRR 20" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 569..598 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 591 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 596..619 /region_name="LRR 21" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 599..621 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 620..645 /region_name="LRR 22" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 622..652 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 650..673 /region_name="LRR 23" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 653..677 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 675..698 /region_name="LRR 24" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 678..701 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 680 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 699..722 /region_name="LRR 25" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 702..725 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 721 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 724..746 /region_name="LRR 26" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 747..770 /region_name="LRR 27" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 750..775 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 754..>838 /region_name="PCC" /note="polycystin cation channel protein; TIGR00864" /db_xref="CDD:188093" Region 773..796 /region_name="LRR 28" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 800 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 838..858 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 891..1036 /region_name="TIR" /note="Toll - interleukin 1 - resistance; smart00255" /db_xref="CDD:214587" CDS 1..1050 /gene="Tlr7" /coded_by="NM_001290757.1:268..3420" /note="isoform a precursor is encoded by transcript variant 4" /db_xref="CCDS:CCDS30531.1" /db_xref="GeneID:170743" /db_xref="MGI:MGI:2176882" ORIGIN 1 mvfsmwtrkr qiliflnmll vsrvfgfrwf pktlpcevkv nipeahvivd ctdkhlteip 61 egiptnttnl tltinhipsi spdsfrrlnh leeidlrcnc vpvllgskan vctkrlqirp 121 gsfsglsdlk alyldgnqll eipqdlpssl hllsleanni fsitkenlte lvnietlylg 181 qncyyrnpcn vsysiekdaf lvmrnlkvls lkdnnvtavp ttlppnllel ylynniikki 241 qendfnnlne lqvldlsgnc prcynvpypc tpcennsplq ihdnafnslt elkvlrlhsn 301 slqhvpptwf knmrnlqeld lsqnylarei eeakflhflp nlveldfsfn yelqvyhasi 361 tlphslssle nlkilrvkgy vfkelknssl svlhklprle vldlgtnfik iadlnifkhf 421 enlklidlsv nkispseesr evgfcpnaqt svdrhgpqvl ealhyfryde yarscrfknk 481 eppsflplna dchiygqtld lsrnniffik psdfqhlsfl kclnlsgnti gqtlngselw 541 plrelryldf snnrldllys tafeelqsle vldlssnshy fqaegithml nftkklrlld 601 klmmndndis tsasrtmesd slrilefrgn hldvlwragd nryldffknl fnlevldisr 661 nslnslppev fegmppnlkn lslaknglks ffwdrlqllk hleildlshn qltkvperla 721 ncskslttli lkhnqirqlt kyfledalql ryldissnki qviqktsfpe nvlnnlemlv 781 lhhnrflcnc davwfvwwvn htdvtipyla tdvtcvgpga hkgqsvisld lytceldltn 841 lilfsvsiss vlflmvvmtt shlffwdmwy iyyfwkakik gyqhlqsmes cydafivydt 901 knsavtewvl qelvakledp rekhfnlcle erdwlpgqpv lenlsqsiql skktvfvmtq 961 kyaktesfkm afylshqrll dekvdviili flekplqksk flqlrkrlcr ssvlewpanp 1021 qahpyfwqcl knalttdnhv aysqmfketv // LOCUS NP_001351357 514 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 9 [Mus musculus]. ACCESSION NP_001351357 VERSION NP_001351357.1 DBSOURCE REFSEQ: accession NM_001364428.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 514) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 514) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 514) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 514) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 514) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 514) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 514) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 514) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 514) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 514) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.92693.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..514 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..514 /product="pro-neuregulin-1, membrane-bound isoform isoform 9" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=55876 Region 319..>476 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..514 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364428.1:641..2185" /note="isoform 9 is encoded by transcript variant 9" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfykaeel yqkrvltitg 301 iciallvvgi mcvvaycktk kqrqklhdrl rqslrsernn mvniangphh pnpppenvql 361 vnqyvsknvi ssehiverev etsfstshyt stahhsttvt qtpshswsng htesiisesh 421 svimmssven srhsspaggp rgrlhglggp recnsflrha retpdsyrds phserhnlia 481 elrrnkayrs kcmqielsat hlrsssiphl gfil // LOCUS NP_001394504 464 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 1 [Mus musculus]. ACCESSION NP_001394504 VERSION NP_001394504.1 DBSOURCE REFSEQ: accession NM_001407575.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 464) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 464) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 464) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 464) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 464) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 464) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 464) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 464) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784649.134640.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..464 /product="mitogen-activated protein kinase 10 isoform 1" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=52387 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Region 405..464 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..464 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407575.1:521..1915" /note="isoform 1 is encoded by transcript variant 10" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccr // LOCUS NP_001342177 73 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3 [Mus musculus]. ACCESSION NP_001342177 VERSION NP_001342177.1 DBSOURCE REFSEQ: accession NM_001355248.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 73) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 73) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 73) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 73) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 73) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 73) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 73) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 73) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 73) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 73) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4. Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3, 4, and 7 all encode the same protein (isoform 3). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CA979535.1, AK011724.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..73 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..73 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=7806 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 54 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 57 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" CDS 1..73 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001355248.2:192..413" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS90055.1" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mnlfnldrfr fekrskieea peaapqpsqa rpsspislsa eeenaegegs rantpdsdvt 61 ektgsdfval alv // LOCUS NP_001346926 656 aa linear ROD 09-OCT-2023 DEFINITION receptor-interacting serine/threonine-protein kinase 1 [Mus musculus]. ACCESSION NP_001346926 XP_006516670 VERSION NP_001346926.1 DBSOURCE REFSEQ: accession NM_001359997.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 656) AUTHORS Lu Y, Leng Y, Li Y, Wang J, Wang W, Wang R, Liu Y, Tan Q, Yang W, Jiang Y, Cai J, Yuan H, Weng L and Xu Q. TITLE Endothelial RIPK1 protects artery bypass graft against arteriosclerosis by regulating SMC growth JOURNAL Sci Adv 9 (35), eadh8939 (2023) PUBMED 37647392 REMARK GeneRIF: Endothelial RIPK1 protects artery bypass graft against arteriosclerosis by regulating SMC growth. REFERENCE 2 (residues 1 to 656) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 656) AUTHORS Vucur M, Ghallab A, Schneider AT, Adili A, Cheng M, Castoldi M, Singer MT, Buttner V, Keysberg LS, Kusgens L, Kohlhepp M, Gorg B, Gallage S, Barragan Avila JE, Unger K, Kordes C, Leblond AL, Albrecht W, Loosen SH, Lohr C, Jordens MS, Babler A, Hayat S, Schumacher D, Koenen MT, Govaere O, Boekschoten MV, Jors S, Villacorta-Martin C, Mazzaferro V, Llovet JM, Weiskirchen R, Kather JN, Starlinger P, Trauner M, Luedde M, Heij LR, Neumann UP, Keitel V, Bode JG, Schneider RK, Tacke F, Levkau B, Lammers T, Fluegen G, Alexandrov T, Collins AL, Nelson G, Oakley F, Mann DA, Roderburg C, Longerich T, Weber A, Villanueva A, Samson AL, Murphy JM, Kramann R, Geisler F, Costa IG, Hengstler JG, Heikenwalder M and Luedde T. TITLE Sublethal necroptosis signaling promotes inflammation and liver cancer JOURNAL Immunity 56 (7), 1578-1595 (2023) PUBMED 37329888 REFERENCE 4 (residues 1 to 656) AUTHORS Zhang T, Xu D, Trefts E, Lv M, Inuzuka H, Song G, Liu M, Lu J, Liu J, Chu C, Wang M, Wang H, Meng H, Liu H, Zhuang Y, Xie X, Dang F, Guan D, Men Y, Jiang S, Jiang C, Dai X, Liu J, Wang Z, Yan P, Wang J, Tu Z, Babuta M, Erickson E, Hillis AL, Dibble CC, Asara JM, Szabo G, Sicinski P, Miao J, Lee YR, Pan L, Shaw RJ, Yuan J and Wei W. TITLE Metabolic orchestration of cell death by AMPK-mediated phosphorylation of RIPK1 JOURNAL Science 380 (6652), 1372-1380 (2023) PUBMED 37384704 REMARK GeneRIF: Metabolic orchestration of cell death by AMPK-mediated phosphorylation of RIPK1. REFERENCE 5 (residues 1 to 656) AUTHORS Carty F, Layzell S, Barbarulo A, Islam F, Webb LV and Seddon B. TITLE IKK promotes naive T cell survival by repressing RIPK1-dependent apoptosis and activating NF-kappaB JOURNAL Sci Signal 16 (791), eabo4094 (2023) PUBMED 37368952 REMARK GeneRIF: IKK promotes naive T cell survival by repressing RIPK1-dependent apoptosis and activating NF-kappaB. REFERENCE 6 (residues 1 to 656) AUTHORS Kaiserman D, Knaggs S, Scarff KL, Gillard A, Mirza G, Cadman M, McKeone R, Denny P, Cooley J, Benarafa C, Remold-O'Donnell E, Ragoussis J and Bird PI. TITLE Comparison of human chromosome 6p25 with mouse chromosome 13 reveals a greatly expanded ov-serpin gene repertoire in the mouse JOURNAL Genomics 79 (3), 349-362 (2002) PUBMED 11863365 REFERENCE 7 (residues 1 to 656) AUTHORS Melnick M, Chen H, Zhou Y and Jaskoll T. TITLE Embryonic mouse submandibular salivary gland morphogenesis and the TNF/TNF-R1 signal transduction pathway JOURNAL Anat Rec 262 (3), 318-330 (2001) PUBMED 11241200 REFERENCE 8 (residues 1 to 656) AUTHORS Hofmann K. TITLE The modular nature of apoptotic signaling proteins JOURNAL Cell Mol Life Sci 55 (8-9), 1113-1128 (1999) PUBMED 10442092 REMARK Review article REFERENCE 9 (residues 1 to 656) AUTHORS Kelliher MA, Grimm S, Ishida Y, Kuo F, Stanger BZ and Leder P. TITLE The death domain kinase RIP mediates the TNF-induced NF-kappaB signal JOURNAL Immunity 8 (3), 297-303 (1998) PUBMED 9529147 REFERENCE 10 (residues 1 to 656) AUTHORS Stanger BZ, Leder P, Lee TH, Kim E and Seed B. TITLE RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death JOURNAL Cell 81 (4), 513-523 (1995) PUBMED 7538908 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC161117.4. On Jan 24, 2018 this sequence version replaced XP_006516670.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK156803.1, BC058162.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..656 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="13" /map="13 14.01 cM" Protein 1..656 /product="receptor-interacting serine/threonine-protein kinase 1" /EC_number="2.7.11.1" /note="cell death protein RIP; receptor-interacting protein 1; serine/threonine-protein kinase RIP" /calculated_mol_wt=74724 Site 6 /site_type="phosphorylation" /note="Phosphoserine, by IKKA and IKKB. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 23..291 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Site order(23..26,29,31,43,45,76,92..95,138,142..143,145, 155..156) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270870" Site 25 /site_type="phosphorylation" /note="Phosphoserine, by IKKA and IKKB. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 161 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3 and autocatalysis. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 166 /site_type="phosphorylation" /note="Phosphoserine, by autocatalysis. /evidence=ECO:0000269|PubMed:27819682, ECO:0000269|PubMed:28701375, ECO:0000269|PubMed:29440439, ECO:0000269|PubMed:30988283, ECO:0000269|PubMed:31519886, ECO:0000269|PubMed:31519887; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 169 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 291..567 /region_name="Interaction with SQSTM1. /evidence=ECO:0000250|UniProtKB:Q13546" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 304 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13546; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 313 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 321 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 325..326 /site_type="cleavage" /note="Cleavage, by CASP8. /evidence=ECO:0000269|PubMed:31511692, ECO:0000269|PubMed:31827280, ECO:0000269|PubMed:31827281; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 327..373 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 332 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 334 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 383 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q13546; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 388..423 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 520..536 /region_name="RIP homotypic interaction motif (RHIM). /evidence=ECO:0000269|PubMed:18442983, ECO:0000269|PubMed:27819681, ECO:0000269|PubMed:27819682" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 568..653 /region_name="Death_RIP1" /note="Death Domain of Receptor-Interacting Protein 1; cd08777" /db_xref="CDD:260048" CDS 1..656 /gene="Ripk1" /gene_synonym="D330015H01Rik; Rinp; RIP; RIP-1; Rip1" /coded_by="NM_001359997.1:401..2371" /db_xref="CCDS:CCDS26443.1" /db_xref="GeneID:19766" /db_xref="MGI:MGI:108212" ORIGIN 1 mqpdmsldni kmassdllek tdldsggfgk vslcyhrshg fvilkkvytg pnraeynevl 61 leegkmmhrl rhsrvvkllg iiieegnysl vmeymekgnl mhvlktqidv plslkgriiv 121 eaiegmcylh dkgvihkdlk penilvdrdf hikiadlgva sfktwskltk ekdnkqkevs 181 sttkknnggt lyymapehln dinakpteks dvysfgivlw aifakkepye nvicteqfvi 241 ciksgnrpnv eeileycpre iislmercwq aipedrptfl gieeefrpfy lshfeeyvee 301 dvaslkkeyp dqspvlqrmf slqhdcvplp psrsnseqpg slhssqglqm gpveeswfss 361 speypqdend rsvqaklqee asyhafgifa ekqtkpqprq neaynreeer krrvshdpfa 421 qqrareniks agarghsdps ttsrgiavqq lswpatqtvw nnglynqhgf gttgtgvwyp 481 pnlsqmysty ktpvpetnip gstptmpyfs gpvaddliky tifnssgiqi gnhnymdvgl 541 nsqppnntck eestsrhqai fdnttsltde hlnpirenlg rqwkncarkl gftesqidei 601 dhdyerdglk ekvyqmlqkw lmregtkgat vgklaqalhq ccridllnhl irasqs // LOCUS NP_001394515 402 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 9 [Mus musculus]. ACCESSION NP_001394515 VERSION NP_001394515.1 DBSOURCE REFSEQ: accession NM_001407586.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 402) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 402) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 402) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 402) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 402) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 402) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 402) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 402) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 402) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 402) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784649.385457.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..402 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..402 /product="mitogen-activated protein kinase 10 isoform 9" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=45208 Region 25..336 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,299..300,302,305) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..402 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407586.1:658..1866" /note="isoform 9 is encoded by transcript variant 17" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykendidqw nkvieqlgtp cpefmkklqp tvrnyvenrp 241 kyagltfpkl fpdslfpads ehnklkasqa rdllskmlvi dpakrisvdd alqhpyinvw 301 ydpaeveapp pqiydkqlde rehtieewke liykevmnse ektkngvvkg qpspsgaavn 361 sseslppsss vndissmstd qtlasdtdss leasagplgc cr // LOCUS NP_001397180 430 aa linear ROD 09-OCT-2023 DEFINITION Friend leukemia integration 1 transcription factor isoform 2 [Mus musculus]. ACCESSION NP_001397180 XP_036010504 VERSION NP_001397180.1 DBSOURCE REFSEQ: accession NM_001410251.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 430) AUTHORS Wang X, Richard ML, Caldwell TS, Sundararaj K, Sato S, Nowling TK and Zhang XK. TITLE Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis JOURNAL Front Immunol 14, 1219279 (2023) PUBMED 37790939 REMARK GeneRIF: Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 430) AUTHORS Sato S, Zhang XK, Matsuoka N, Sumichika Y, Saito K, Yoshida S, Matsumoto H, Temmoku J, Fujita Y, Asano T and Migita K. TITLE Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse JOURNAL Lupus Sci Med 10 (1) (2023) PUBMED 37094946 REMARK GeneRIF: Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse. REFERENCE 3 (residues 1 to 430) AUTHORS Shintani A, Fukai S, Nobusawa R, Taniguchi K, Hatatani T, Nagai H, Sakai T, Yoshimura T, Miyasaka M and Hayasaka H. TITLE Dach1 transcription factor regulates the expression of peripheral node addressin and lymphocyte trafficking in lymph nodes JOURNAL Curr Res Immunol 3, 175-185 (2022) PUBMED 36045707 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 430) AUTHORS Sinha T, Lammerts van Bueren K, Dickel DE, Zlatanova I, Thomas R, Lizama CO, Xu SM, Zovein AC, Ikegami K, Moskowitz IP, Pollard KS, Pennacchio LA and Black BL. TITLE Differential Etv2 threshold requirement for endothelial and erythropoietic development JOURNAL Cell Rep 39 (9), 110881 (2022) PUBMED 35649376 REFERENCE 5 (residues 1 to 430) AUTHORS Sarrazin S, Starck J, Gonnet C, Doubeikovski A, Melet F and Morle F. TITLE Negative and translation termination-dependent positive control of FLI-1 protein synthesis by conserved overlapping 5' upstream open reading frames in Fli-1 mRNA JOURNAL Mol Cell Biol 20 (9), 2959-2969 (2000) PUBMED 10757781 REFERENCE 6 (residues 1 to 430) AUTHORS Barbeau B, Bergeron D, Beaulieu M, Nadjem Z and Rassart E. TITLE Characterization of the human and mouse Fli-1 promoter regions JOURNAL Biochim Biophys Acta 1307 (2), 220-232 (1996) PUBMED 8679708 REFERENCE 7 (residues 1 to 430) AUTHORS Watson DK, Smyth FE, Thompson DM, Cheng JQ, Testa JR, Papas TS and Seth A. TITLE The ERGB/Fli-1 gene: isolation and characterization of a new member of the family of human ETS transcription factors JOURNAL Cell Growth Differ 3 (10), 705-713 (1992) PUBMED 1445800 REFERENCE 8 (residues 1 to 430) AUTHORS Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G et al. TITLE Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours JOURNAL Nature 359 (6391), 162-165 (1992) PUBMED 1522903 REFERENCE 9 (residues 1 to 430) AUTHORS Moore SK, Appella E, Villar CJ and Kozak CA. TITLE Mapping of the mouse 86-kDa heat-shock protein expressed gene (Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11 JOURNAL Genomics 10 (4), 1019-1029 (1991) PUBMED 1916807 REFERENCE 10 (residues 1 to 430) AUTHORS Bergeron D, Poliquin L, Kozak CA and Rassart E. TITLE Identification of a common viral integration region in Cas-Br-E murine leukemia virus-induced non-T-, non-B-cell lymphomas JOURNAL J Virol 65 (1), 7-15 (1991) PUBMED 1845910 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127581.4 and AC141646.4. On Aug 1, 2022 this sequence version replaced XP_036010504.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.4528473.1, SRR13862101.1620945.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..430 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 17.74 cM" Protein 1..430 /product="Friend leukemia integration 1 transcription factor isoform 2" /note="friend leukemia integration 1 transcription factor; retroviral integration site protein Fli-1" /calculated_mol_wt=48436 Region 114..199 /region_name="SAM_PNT-FLI-1" /note="Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator; cd08541" /db_xref="CDD:188883" Region 258..341 /region_name="ETS" /note="erythroblast transformation specific domain; smart00413" /db_xref="CDD:197710" CDS 1..430 /gene="Fli1" /gene_synonym="EWSR2; Fli-1; SIC-1; Sic1" /coded_by="NM_001410251.1:190..1482" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:14247" /db_xref="MGI:MGI:95554" ORIGIN 1 mdgtikeals vvsddqslfd saygaaahlp kadmtasgsp dygqphkinp lppqqewinq 61 pvrvnvkrey dhmngsresp vdcsvskcnk lvgggeanpm nynsymdekn gppppnmttn 121 errvivpadp tlwtqehvrq wlewaikeyg lmeidtsffq nmdgkelckm nkedflrats 181 ayntevllsh lsylrenpsy dsvrrgawnn nmnsglnksp llggsqtmgk nteqrpqpdp 241 yqilgptssr lanpgsgqiq lwqfllells dsanascitw egtngefkmt dpdevarrwg 301 erkskpnmny dklsralryy ydknimtkvh gkryaykfdf hgiaqalqph ptetsmykyp 361 sdisympsyh ahqqkvnfvp shpssmpvts ssffgaasqy wtsptagiyp npsvprhpnt 421 hvpshlgsyy // LOCUS NP_296371 309 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor ligand superfamily member 13B isoform 1 [Mus musculus]. ACCESSION NP_296371 VERSION NP_296371.1 DBSOURCE REFSEQ: accession NM_033622.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 309) AUTHORS Doll JR, Moreno-Fernandez ME, Stankiewicz TE, Wayland JL, Wilburn A, Weinhaus B, Chougnet CA, Giordano D, Cappelletti M, Presicce P, Kallapur SG, Salomonis N, Tilburgs T and Divanovic S. TITLE BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth JOURNAL Cell Rep 42 (4), 112352 (2023) PUBMED 37027297 REMARK GeneRIF: BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth. REFERENCE 2 (residues 1 to 309) AUTHORS Giordano D, Kuley R, Draves KE, Elkon KB, Giltiay NV and Clark EA. TITLE B cell-activating factor (BAFF) from dendritic cells, monocytes and neutrophils is required for B cell maturation and autoantibody production in SLE-like autoimmune disease JOURNAL Front Immunol 14, 1050528 (2023) PUBMED 36923413 REMARK GeneRIF: B cell-activating factor (BAFF) from dendritic cells, monocytes and neutrophils is required for B cell maturation and autoantibody production in SLE-like autoimmune disease. Publication Status: Online-Only REFERENCE 3 (residues 1 to 309) AUTHORS Kanemitsu-Okada K, Abe M, Nakamura Y, Miyake T, Watanabe T, Yoshida O, Koizumi Y, Hirooka M, Tokumoto Y, Matsuura B, Koizumi M and Hiasa Y. TITLE Role of B Cell-Activating Factor in Fibrosis Progression in a Murine Model of Non-Alcoholic Steatohepatitis JOURNAL Int J Mol Sci 24 (3), 2509 (2023) PUBMED 36768854 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 309) AUTHORS Stohl W, Yu N and Wu Y. TITLE B Cell and T Cell Dissimilarities in BAFF-Deficient versus BR3-Deficient C57BL/6 Mice JOURNAL J Immunol 209 (11), 2133-2140 (2022) PUBMED 36426969 REMARK GeneRIF: B Cell and T Cell Dissimilarities in BAFF-Deficient versus BR3-Deficient C57BL/6 Mice. REFERENCE 5 (residues 1 to 309) AUTHORS Liu W, Stachura P, Xu HC, Varaljai R, Shinde P, Ganesh NU, Mack M, Van Lierop A, Huang A, Sundaram B, Lang KS, Picard D, Fischer U, Remke M, Homey B, Roesch A, Haussinger D, Lang PA, Borkhardt A and Pandyra AA. TITLE BAFF Attenuates Immunosuppressive Monocytes in the Melanoma Tumor Microenvironment JOURNAL Cancer Res 82 (2), 264-277 (2022) PUBMED 34810198 REMARK GeneRIF: BAFF Attenuates Immunosuppressive Monocytes in the Melanoma Tumor Microenvironment. REFERENCE 6 (residues 1 to 309) AUTHORS Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G and Theill LE. TITLE APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity JOURNAL Nat Immunol 1 (3), 252-256 (2000) PUBMED 10973284 REFERENCE 7 (residues 1 to 309) AUTHORS Xia XZ, Treanor J, Senaldi G, Khare SD, Boone T, Kelley M, Theill LE, Colombero A, Solovyev I, Lee F, McCabe S, Elliott R, Miner K, Hawkins N, Guo J, Stolina M, Yu G, Wang J, Delaney J, Meng SY, Boyle WJ and Hsu H. TITLE TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation JOURNAL J Exp Med 192 (1), 137-143 (2000) PUBMED 10880535 REFERENCE 8 (residues 1 to 309) AUTHORS Gross JA, Johnston J, Mudri S, Enselman R, Dillon SR, Madden K, Xu W, Parrish-Novak J, Foster D, Lofton-Day C, Moore M, Littau A, Grossman A, Haugen H, Foley K, Blumberg H, Harrison K, Kindsvogel W and Clegg CH. TITLE TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease JOURNAL Nature 404 (6781), 995-999 (2000) PUBMED 10801128 REFERENCE 9 (residues 1 to 309) AUTHORS Mackay F, Woodcock SA, Lawton P, Ambrose C, Baetscher M, Schneider P, Tschopp J and Browning JL. TITLE Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations JOURNAL J Exp Med 190 (11), 1697-1710 (1999) PUBMED 10587360 REFERENCE 10 (residues 1 to 309) AUTHORS Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha-Orbea H, Valmori D, Romero P, Werner-Favre C, Zubler RH, Browning JL and Tschopp J. TITLE BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth JOURNAL J Exp Med 189 (11), 1747-1756 (1999) PUBMED 10359578 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF119383.1. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF119383.1, AF352245.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..309 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="8" /map="8 4.55 cM" Protein 1..309 /product="tumor necrosis factor ligand superfamily member 13B isoform 1" /note="b cell-activating factor; tumor necrosis factor ligand 7a" /calculated_mol_wt=34061 Site 48..68 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WU72.1)" Region 110..140 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU72.1)" Site 117 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WU72.1)" Site 126..127 /site_type="cleavage" /note="Cleavage. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9WU72.1)" Region 170..306 /region_name="TNF" /note="Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal...; cd00184" /db_xref="CDD:238108" Site order(172,218,220,270,275,302,306) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:238108" Site order(193,195,233,240,249) /site_type="active" /note="receptor binding sites [active]" /db_xref="CDD:238108" Site 266 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WU72.1)" CDS 1..309 /gene="Tnfsf13b" /gene_synonym="BAFF; BLyS; D8Ertd387e; TALL-1; TALL1; THANK; TNFSF20; Tnlg7a; zTNF4" /coded_by="NM_033622.2:211..1140" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS22094.1" /db_xref="GeneID:24099" /db_xref="MGI:MGI:1344376" ORIGIN 1 mdesaktlpp pclcfcsekg edmkvgydpi tpqkeegawf gicrdgrlla atlllallss 61 sftamslyql aalqadlmnl rmelqsyrgs atpaaagape ltagvklltp aaprphnssr 121 ghrnrrafqg peeteqdvdl sappapclpg crhsqhddng mnlrniiqdc lqliadsdtp 181 tirkgtytfv pwllsfkrgn aleekenkiv vrqtgyffiy sqvlytdpif amghviqrkk 241 vhvfgdelsl vtlfrciqnm pktlpnnscy sagiarleeg deiqlaipre naqisrngdd 301 tffgalkll // LOCUS NP_032293 286 aa linear ROD 09-OCT-2023 DEFINITION homeobox protein Hox-B13 [Mus musculus]. ACCESSION NP_032293 VERSION NP_032293.1 DBSOURCE REFSEQ: accession NM_008267.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 286) AUTHORS Chen Y, Dufour CR, Han L, Li T, Xia H and Giguere V. TITLE Hierarchical Phosphorylation of HOXB13 by mTOR Dictates Its Activity and Oncogenic Function in Prostate Cancer JOURNAL Mol Cancer Res 21 (10), 1050-1063 (2023) PUBMED 37409967 REMARK GeneRIF: Hierarchical Phosphorylation of HOXB13 by mTOR Dictates Its Activity and Oncogenic Function in Prostate Cancer. REFERENCE 2 (residues 1 to 286) AUTHORS Li M, Tan T, Geng Y, Tao Y, Pan J, Zhang J, Xu Q, Shen H, Zuo L and Chen Y. TITLE HOXB13 facilitates hepatocellular carcinoma progression by activating AKT/mTOR signaling pathway JOURNAL Ann Hepatol 28 (1), 100759 (2023) PUBMED 36179794 REMARK GeneRIF: HOXB13 facilitates hepatocellular carcinoma progression by activating AKT/mTOR signaling pathway. REFERENCE 3 (residues 1 to 286) AUTHORS Hauswirth GM, Garside VC, Wong LSF, Bildsoe H, Manent J, Chang YC, Nefzger CM, Firas J, Chen J, Rossello FJ, Polo JM and McGlinn E. TITLE Breaking constraint of mammalian axial formulae JOURNAL Nat Commun 13 (1), 243 (2022) PUBMED 35017475 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 286) AUTHORS Sawai A, Pfennig S, Bulajic M, Miller A, Khodadadi-Jamayran A, Mazzoni EO and Dasen JS. TITLE PRC1 sustains the integrity of neural fate in the absence of PRC2 function JOURNAL Elife 11, e72769 (2022) PUBMED 34994686 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 286) AUTHORS Yogosawa S, Ohkido M, Horii T, Okazaki Y, Nakayama J, Yoshida S, Toyokuni S, Hatada I, Morimoto M and Yoshida K. TITLE Mice lacking DYRK2 exhibit congenital malformations with lung hypoplasia and altered Foxf1 expression gradient JOURNAL Commun Biol 4 (1), 1204 (2021) PUBMED 34671097 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 286) AUTHORS Landgren C, Beier DR, Fassler R, Heinegard D and Sommarin Y. TITLE The mouse chondroadherin gene: characterization and chromosomal localization JOURNAL Genomics 47 (1), 84-91 (1998) PUBMED 9465299 REFERENCE 7 (residues 1 to 286) AUTHORS Shen WF, Montgomery JC, Rozenfeld S, Moskow JJ, Lawrence HJ, Buchberg AM and Largman C. TITLE AbdB-like Hox proteins stabilize DNA binding by the Meis1 homeodomain proteins JOURNAL Mol Cell Biol 17 (11), 6448-6458 (1997) PUBMED 9343407 REFERENCE 8 (residues 1 to 286) AUTHORS Kohda K, Matsuda Y, Ishibashi T, Tanaka K and Kasahara M. TITLE Structural analysis and chromosomal localization of the mouse Psmb5 gene coding for the constitutively expressed beta-type proteasome subunit JOURNAL Immunogenetics 47 (1), 77-87 (1997) PUBMED 9382924 REFERENCE 9 (residues 1 to 286) AUTHORS Kandil E, Kohda K, Ishibashi T, Tanaka K and Kasahara M. TITLE PA28 subunits of the mouse proteasome: primary structures and chromosomal localization of the genes JOURNAL Immunogenetics 46 (4), 337-344 (1997) PUBMED 9218537 REFERENCE 10 (residues 1 to 286) AUTHORS Zeltser L, Desplan C and Heintz N. TITLE Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity JOURNAL Development 122 (8), 2475-2484 (1996) PUBMED 8756292 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL645478.15. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051087.1, BQ960077.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849378, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..286 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 59.63 cM" Protein 1..286 /product="homeobox protein Hox-B13" /note="homeo box B13" /calculated_mol_wt=30832 Region 12..124 /region_name="HoxA13_N" /note="Hox protein A13 N terminal; pfam12284" /db_xref="CDD:432453" Region 218..274 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(219..223,225,242,248,261,263..264,267..268,270..272, 274..275) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Region 219..248 /region_name="Interaction with DNA. /evidence=ECO:0000250|UniProtKB:Q92826" /note="propagated from UniProtKB/Swiss-Prot (P70321.1)" Site order(221,224,264,267..268,271) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" Region 260..275 /region_name="Interaction with 5-mCpG DNA. /evidence=ECO:0000250|UniProtKB:Q92826" /note="propagated from UniProtKB/Swiss-Prot (P70321.1)" Region 272..275 /region_name="Interaction with DNA. /evidence=ECO:0000250|UniProtKB:Q92826" /note="propagated from UniProtKB/Swiss-Prot (P70321.1)" CDS 1..286 /gene="Hoxb13" /coded_by="NM_008267.4:128..988" /db_xref="CCDS:CCDS25291.1" /db_xref="GeneID:15408" /db_xref="MGI:MGI:107730" ORIGIN 1 mepgnyatld gakdiegllg agggrnlvsh ssplashpaa ptlmptvnya pldlpgsaep 61 pkqchpcpgv pqgaspapvp ygyfgggyys crvsrsslkp caqtaalaty psetpapgee 121 ypsrptefaf ypgypgpyqp masyldvsvv qtlgapgepr hdsllpvdsy qpwalaggwn 181 sqmccqgeqn ppgpfwkaaf aepsvqhppp dgcafrrgrk kripyskgql relereyaan 241 kfitkdkrrk isaatslser qitiwfqnrr vkekkvlakv ktsttp // LOCUS NP_035410 489 aa linear ROD 09-OCT-2023 DEFINITION tripartite motif-containing protein 10 [Mus musculus]. ACCESSION NP_035410 VERSION NP_035410.2 DBSOURCE REFSEQ: accession NM_011280.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 489) AUTHORS Kong L, Sui C, Chen T, Zhang L, Zhao W, Zheng Y, Liu B, Cheng X and Gao C. TITLE The ubiquitin E3 ligase TRIM10 promotes STING aggregation and activation in the Golgi apparatus JOURNAL Cell Rep 42 (4), 112306 (2023) PUBMED 36972172 REMARK GeneRIF: The ubiquitin E3 ligase TRIM10 promotes STING aggregation and activation in the Golgi apparatus. REFERENCE 2 (residues 1 to 489) AUTHORS Yang H, Wang XX, Zhou CY, Xiao X, Tian C, Li HH, Yin CL and Wang HX. TITLE Tripartite motif 10 regulates cardiac hypertrophy by targeting the PTEN/AKT pathway JOURNAL J Cell Mol Med 24 (11), 6233-6241 (2020) PUBMED 32343488 REMARK GeneRIF: Tripartite motif 10 regulates cardiac hypertrophy by targeting the PTEN/AKT pathway. Erratum:[J Cell Mol Med. 2023 Jul;27(13):1915-1917. PMID: 37394903] REFERENCE 3 (residues 1 to 489) AUTHORS Blaybel R, Theoleyre O, Douablin A and Baklouti F. TITLE Downregulation of the Spi-1/PU.1 oncogene induces the expression of TRIM10/HERF1, a key factor required for terminal erythroid cell differentiation and survival JOURNAL Cell Res 18 (8), 834-845 (2008) PUBMED 18560381 REMARK GeneRIF: Primary Spi-1/PU.1 downregulation acts on late erythroid differentiation through at least two pathways, one of which requires TRIM10/HERF1 upregulation and parallels the Spi-1/PU.1-induced Fli-1 shutoff regulatory cascade. REFERENCE 4 (residues 1 to 489) AUTHORS Uchil PD, Quinlan BD, Chan WT, Luna JM and Mothes W. TITLE TRIM E3 ligases interfere with early and late stages of the retroviral life cycle JOURNAL PLoS Pathog 4 (2), e16 (2008) PUBMED 18248090 REFERENCE 5 (residues 1 to 489) AUTHORS Takada T, Kumanovics A, Amadou C, Yoshino M, Jones EP, Athanasiou M, Evans GA and Fischer Lindahl K. TITLE Species-specific class I gene expansions formed the telomeric 1 mb of the mouse major histocompatibility complex JOURNAL Genome Res 13 (4), 589-600 (2003) PUBMED 12671000 REFERENCE 6 (residues 1 to 489) AUTHORS Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG and Ballabio A. TITLE The tripartite motif family identifies cell compartments JOURNAL EMBO J 20 (9), 2140-2151 (2001) PUBMED 11331580 REFERENCE 7 (residues 1 to 489) AUTHORS Harada H, Harada Y, O'Brien DP, Rice DS, Naeve CW and Downing JR. TITLE HERF1, a novel hematopoiesis-specific RING finger protein, is required for terminal differentiation of erythroid cells JOURNAL Mol Cell Biol 19 (5), 3808-3815 (1999) PUBMED 10207104 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY712181.1, AK011082.1 and AI324236.1. On Aug 4, 2009 this sequence version replaced NP_035410.1. ##Evidence-Data-START## Transcript exon combination :: AK011082.1, BC051632.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849388, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..489 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 19.16 cM" Protein 1..489 /product="tripartite motif-containing protein 10" /note="ring finger protein 9; tripartite motif protein 10; hematopoietic RING finger 1" /calculated_mol_wt=55499 Region 9..69 /region_name="RING_Ubox" /note="RING finger (Really Interesting New Gene) domain and U-box domain superfamily; cl17238" /db_xref="CDD:450175" Site order(16,19,31,33,36,39,57,60) /site_type="other" /note="cross-brace motif" /db_xref="CDD:438111" Region 99..135 /region_name="Bbox_SF" /note="B-box-type zinc finger superfamily; cl00034" /db_xref="CDD:444664" Region 309..480 /region_name="SPRY_PRY_TRIM10" /note="PRY/SPRY domain of tripartite motif-binding protein 10 (TRIM10) also known as hematopoietic RING finger 1 (HERF1); cd15827" /db_xref="CDD:293999" CDS 1..489 /gene="Trim10" /gene_synonym="Herf1; Rnf9" /coded_by="NM_011280.2:306..1775" /db_xref="CCDS:CCDS37614.1" /db_xref="GeneID:19824" /db_xref="MGI:MGI:1338757" ORIGIN 1 masapsvtsl adevncpicq gtlrepvtid cghnfcrgcl tryceipgpe seeslscplc 61 kepfrpgsfr pnwqlanvve nierlqlast rglevedacp ehgekiyffc eedeaqlcvv 121 cretgqhgah tvrfledaag pyreqiqkcl vclrkereei qetqsrenkr iqvlltqvat 181 krqqvisqfa hlsqflqqqq tallaqlegl dgdilkqqee fdslatgeic rfstlieele 241 eknkrtargl ltdirstlir cetrkcrkpe aispelgqri rdfpqqaipl rqemktflek 301 lcfeldyepa hisldpqtsh pklllsedhr rarfsykwqn spdtpqrfdr vtcvlaqcgf 361 tggrhtwmvn vdlahggsct vgvvredvrr kgelrlrpee giwavrlawg fvsalgsfpt 421 rlaleeqprk vqvsldyevg witfvnavtq ehiytftasf tqkifplfgl wgrgssfsls 481 cqegavsll // LOCUS NP_001390655 735 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 2 [Mus musculus]. ACCESSION NP_001390655 VERSION NP_001390655.1 DBSOURCE REFSEQ: accession NM_001403726.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 735) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 735) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 735) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 735) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 735) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 735) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 735) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 735) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 735) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 735) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422590.581824.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..735 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..735 /product="transcriptional repressor CTCF isoform 2" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83486 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(268,271,284,288) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(469,472,485,489) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 698..725 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..735 /gene="Ctcf" /coded_by="NM_001403726.1:496..2703" /note="isoform 2 is encoded by transcript variant 6" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqptaiiq vedqntgaie niivevkkep daepaegeee eaqaattdap 721 ngdltpemil smmdr // LOCUS NP_001298044 1556 aa linear ROD 09-OCT-2023 DEFINITION A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 2 precursor [Mus musculus]. ACCESSION NP_001298044 XP_006510824 VERSION NP_001298044.1 DBSOURCE REFSEQ: accession NM_001311115.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1556) AUTHORS Sharifi MA, Wierer M, Dang TA, Milic J, Moggio A, Sachs N, von Scheidt M, Hinterdobler J, Muller P, Werner J, Stiller B, Aherrahrou Z, Erdmann J, Zaliani A, Graettinger M, Reinshagen J, Gul S, Gribbon P, Maegdefessel L, Bernhagen J, Sager HB, Mann M, Schunkert H and Kessler T. TITLE ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1 JOURNAL Circ Res 133 (8), 674-686 (2023) PUBMED 37675562 REMARK GeneRIF: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1. REFERENCE 2 (residues 1 to 1556) AUTHORS Gong Z, Huang J, Wang D, Yang S, Ma Z, Fu Y, Ma Q and Kong W. TITLE ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice JOURNAL J Mol Med (Berl) 101 (3), 237-248 (2023) PUBMED 36662289 REMARK GeneRIF: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice. REFERENCE 3 (residues 1 to 1556) AUTHORS Ma Z, Mao C, Jia Y, Yu F, Xu P, Tan Y, Zou QH, Zhou XJ, Kong W and Fu Y. TITLE ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries JOURNAL J Am Soc Nephrol 34 (2), 291-308 (2023) PUBMED 36735376 REMARK GeneRIF: ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries. REFERENCE 4 (residues 1 to 1556) AUTHORS Jaiswal AK and Mishra A. TITLE ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses JOURNAL Lung 200 (3), 305-313 (2022) PUBMED 35503474 REMARK GeneRIF: ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses. REFERENCE 5 (residues 1 to 1556) AUTHORS Mizoguchi T, MacDonald BT, Bhandary B, Popp NR, Laprise D, Arduini A, Lai D, Zhu QM, Xing Y, Kaushik VK, Kathiresan S and Ellinor PT. TITLE Coronary Disease Association With ADAMTS7 Is Due to Protease Activity JOURNAL Circ Res 129 (4), 458-470 (2021) PUBMED 34176299 REFERENCE 6 (residues 1 to 1556) AUTHORS Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP and Liu CJ. TITLE ADAMTS-7 forms a positive feedback loop with TNF-alpha in the pathogenesis of osteoarthritis JOURNAL Ann Rheum Dis 73 (8), 1575-1584 (2014) PUBMED 23928557 REMARK GeneRIF: ADAMTS-7 and TNF-alpha form a positive feedback loop in the regulation of cartilage degradation and osteoarthritis progression. REFERENCE 7 (residues 1 to 1556) AUTHORS Du J, Takeuchi H, Leonhard-Melief C, Shroyer KR, Dlugosz M, Haltiwanger RS and Holdener BC. TITLE O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation JOURNAL Dev Biol 346 (1), 25-38 (2010) PUBMED 20637190 REFERENCE 8 (residues 1 to 1556) AUTHORS Bai XH, Wang DW, Kong L, Zhang Y, Luan Y, Kobayashi T, Kronenberg HM, Yu XP and Liu CJ. TITLE ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor JOURNAL Mol Cell Biol 29 (15), 4201-4219 (2009) PUBMED 19487464 REMARK GeneRIF: Findings demonstrate that ADAMTS-7, a direct target of PTHrP signaling, negatively regulates endochondral bone formation by associating with and inactivating GEP chondrogenic growth factor. REFERENCE 9 (residues 1 to 1556) AUTHORS Somerville RP, Longpre JM, Apel ED, Lewis RM, Wang LW, Sanes JR, Leduc R and Apte SS. TITLE ADAMTS7B, the full-length product of the ADAMTS7 gene, is a chondroitin sulfate proteoglycan containing a mucin domain JOURNAL J Biol Chem 279 (34), 35159-35175 (2004) PUBMED 15192113 REMARK GeneRIF: ADAMTS7B has a domain organization with a total of eight thrombospondin type 1 repeats in its ancillary domain. Of these, seven are arranged in two distinct clusters that are separated by a mucin domain REFERENCE 10 (residues 1 to 1556) AUTHORS Hurskainen TL, Hirohata S, Seldin MF and Apte SS. TITLE ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family JOURNAL J Biol Chem 274 (36), 25555-25563 (1999) PUBMED 10464288 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BY347798.1, CF532146.1, BU055903.1, BC058991.1, CB246893.1, CA316195.1 and BQ748923.1. On Jul 24, 2015 this sequence version replaced XP_006510824.1. Summary: This gene encodes a member of 'a disintegrin and metalloproteinase with thrombospondin motifs' (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]. Transcript Variant: This variant (2) uses alternate in-frame splice sites in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC145491.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1556 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="9" /map="9 47.46 cM" Protein 1..1556 /product="A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 2 precursor" /EC_number="3.4.24.-" /note="a disintegrin and metalloproteinase with thrombospondin motifs 7; COMPase; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7" /calculated_mol_wt=169162 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2433 Region 34..174 /region_name="Pep_M12B_propep" /note="Reprolysin family propeptide; pfam01562" /db_xref="CDD:426325" Region 226..434 /region_name="ZnMc_ADAMTS_like" /note="Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that...; cd04273" /db_xref="CDD:239801" Site order(372..373,376,382) /site_type="active" /db_xref="CDD:239801" Region 449..513 /region_name="ADAM_CR_2" /note="ADAM cysteine-rich domain; pfam17771" /db_xref="CDD:436031" Region 526..578 /region_name="TSP1" /note="Thrombospondin type 1 repeats; smart00209" /db_xref="CDD:214559" Region 584..682 /region_name="ADAM_CR_3" /note="ADAM cysteine-rich domain; pfam19236" /db_xref="CDD:437068" Region 684..793 /region_name="ADAM_spacer1" /note="ADAM-TS Spacer 1; pfam05986" /db_xref="CDD:428708" Region 808..862 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 866..922 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region <1016..1302 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 1285..1333 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1336..1391 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1394..1440 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1443..1498 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" CDS 1..1556 /gene="Adamts7" /gene_synonym="ADAM-TS7; ADAMTS7B" /coded_by="NM_001311115.1:268..4938" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS81050.1" /db_xref="GeneID:108153" /db_xref="MGI:MGI:1347346" ORIGIN 1 mhrgpsllli lcalasrvlg pasglvtegr agldivhpvr vdaggsflsy elwprvlrkr 61 dvsttqassa fyqlqyqgre llfnlttnpy lmapgfvsei rrhstlghah iqtsvptchl 121 lgdvqdpele ggfaaisacd glrgvfqlsn edyfiepldg vsaqpghaqp hvvykhqgsr 181 kqaqqgdsrp sgtcgmqvpp dleqqrehwe qqqqkrrqqr svskekwvet lvvadskmve 241 yhgqpqvesy vltimnmvag lfhdpsignp ihisivrlii ledeekdlki thhaeetlkn 301 fcrwqknini kgddhpqhhd tailltrkdl casmnqpcet lglshvsglc hpqlscsvse 361 dtgmplaftv ahelghsfgi qhdgtgndce sigkrpfims pqllydrgip ltwsrcsrey 421 itrfldrgwg lclddrpskd vialpsvlpg vlydvnhqcr lqygshsayc edmddvchtl 481 wcsvgttchs kldaavdgts cgknkwclkg ecvpegfqpe avdggwsgws awsdcsrscg 541 vgvrsserqc tqpvpknrgk ycvgerkrsq lcnlpacppd rpsfrhtqcs qfdgmlykgk 601 lhkwvpvpnd dnpcelhcrp snssnteklr davvdgtpcy qsrisrdicl ngicknvgcd 661 fvidsgaeed rcgvcrgdgs tcqtvsrtfk etegqgyvdi glipagarei lieevaeaan 721 flalrsedpd kyflnggwti qwngdyrvag ttftyarkgn wenltspgpt sepvwiqllf 781 qeknpgvhyq ytiqrdshdq vrppefswhy gpwskctvtc gtgvqrqsly cmerqagvva 841 eeycntlnrp derqrkcsee pcpprwwage wqpcsrscgp eglsrravfc irsmgldeqr 901 alelsacehl prplaetpcn rhvicpstwg vgnwsqypmy ivdtgasgsg ssspelfnev 961 dfipnqlapr pspasspkpv sisnaideee ldppgpvfvd dfyydynfin fhedlsygsf 1021 eephpdlvdn ggwtapphir ptespsdtpv ptagalgaea ediqgswsps pllseasysp 1081 pgleqtsinp lanflteedt pmgapelgfp slpwppasvd dmmtpvgpgn pdellvkede 1141 qsppstpwsd rnklstdgnp lghtspalpq spiptqpspp sisptqasps pdvvevstgw 1201 naawdpvlea dlkpghvptd lrspgpsgqp qtpnlegtqs pgllptpare tqtnsskdpe 1261 vqplqpslee dgdpadplpa rnaswqvgnw sqcsttcglg aiwrlvscss gndedctlas 1321 rpqparhchl rpcaawrtgn wskcsrncgg gsstrdvqcv dtrdlrplrp fhcqpgptkp 1381 pnrqlcgtqp clpwytsswr ecseacggge qqrlvtcpep glceeslrpn nsrpcnthpc 1441 tqwvvgpwgq csapcgggvq rrlvrcvntq tglaeedsdl csheawpess rpcatedcel 1501 vepprcerdr lsfnfcetlr llgrcqlpti raqccrscpp lsrgvpsrgh qrvarr // LOCUS NP_001349253 483 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 42 [Mus musculus]. ACCESSION NP_001349253 VERSION NP_001349253.1 DBSOURCE REFSEQ: accession NM_001362324.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 483) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 483) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 483) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 483) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 483) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 483) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 483) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 483) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 483) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 483) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.4930.1, SRR1660817.163922.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..483 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..483 /product="CUGBP Elav-like family member 4 isoform 42" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51511 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 414..472 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..483 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362324.1:531..1982" /note="isoform 42 is encoded by transcript variant 44" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal 301 nmnglaaapm tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi 361 hpypaqspta adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl 421 liyhlpqefg daelmqmflp fgfvsfdnpa saqtaiqamn gfqigmkrlk vqlkrpkdan 481 rpy // LOCUS NP_031441 1014 aa linear ROD 09-OCT-2023 DEFINITION poly [ADP-ribose] polymerase 1 [Mus musculus]. ACCESSION NP_031441 VERSION NP_031441.2 DBSOURCE REFSEQ: accession NM_007415.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1014) AUTHORS Xiao D, Zeng T, Zhu W, Yu ZZ, Huang W, Yi H, Lu SS, Feng J, Feng XP, Wu D, Wen Q, Zhou JH, Yuan L, Zhuang W and Xiao ZQ. TITLE ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers JOURNAL Cancer Immunol Res 11 (10), 1367-1383 (2023) PUBMED 37566399 REMARK GeneRIF: ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers. REFERENCE 2 (residues 1 to 1014) AUTHORS Kamaletdinova T, Zong W, Urbanek P, Wang S, Sannai M, Grigaravicius P, Sun W, Fanaei-Kahrani Z, Mangerich A, Hottiger MO, Li T and Wang ZQ. TITLE Poly(ADP-Ribose) Polymerase-1 Lacking Enzymatic Activity Is Not Compatible with Mouse Development JOURNAL Cells 12 (16), 2078 (2023) PUBMED 37626888 REMARK GeneRIF: Poly(ADP-Ribose) Polymerase-1 Lacking Enzymatic Activity Is Not Compatible with Mouse Development. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1014) AUTHORS Chen W, E Q, Sun B, Zhang P, Li N, Fei S, Wang Y, Liu S, Liu X and Zhang X. TITLE PARP1-catalyzed PARylation of YY1 mediates endoplasmic reticulum stress in granulosa cells to determine primordial follicle activation JOURNAL Cell Death Dis 14 (8), 524 (2023) PUBMED 37582914 REMARK GeneRIF: PARP1-catalyzed PARylation of YY1 mediates endoplasmic reticulum stress in granulosa cells to determine primordial follicle activation. Erratum:[Cell Death Dis. 2023 Oct 5;14(10):650. PMID: 37798270] Publication Status: Online-Only REFERENCE 4 (residues 1 to 1014) AUTHORS Xu W, Yang Y, Yu Y, Wen C, Zhao S, Cao L, Zhao S, Qin Y and Chen ZJ. TITLE FAAP100 is required for the resolution of transcription-replication conflicts in primordial germ cells JOURNAL BMC Biol 21 (1), 174 (2023) PUBMED 37580696 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1014) AUTHORS Shao Z, Lee BJ, Zhang H, Lin X, Li C, Jiang W, Chirathivat N, Gershik S, Shen MM, Baer R and Zha S. TITLE Inactive PARP1 causes embryonic lethality and genome instability in a dominant-negative manner JOURNAL Proc Natl Acad Sci U S A 120 (31), e2301972120 (2023) PUBMED 37487079 REMARK GeneRIF: Inactive PARP1 causes embryonic lethality and genome instability in a dominant-negative manner. REFERENCE 6 (residues 1 to 1014) AUTHORS Wang ZQ, Auer B, Stingl L, Berghammer H, Haidacher D, Schweiger M and Wagner EF. TITLE Mice lacking ADPRT and poly(ADP-ribosyl)ation develop normally but are susceptible to skin disease JOURNAL Genes Dev 9 (5), 509-520 (1995) PUBMED 7698643 REFERENCE 7 (residues 1 to 1014) AUTHORS Sugiyama S, Utani A, Yamada S, Kozak CA and Yamada Y. TITLE Cloning and expression of the mouse laminin gamma 2 (B2t) chain, a subunit of epithelial cell laminin JOURNAL Eur J Biochem 228 (1), 120-128 (1995) PUBMED 7882992 REFERENCE 8 (residues 1 to 1014) AUTHORS Auer B, Flick K, Wang ZQ, Haidacher D, Jager S, Berghammer H, Kofler B, Schweiger M and Wagner EF. TITLE On the biological role of the nuclear polymerizing NAD+: protein(ADP-ribosyl) transferase (ADPRT): ADPRT from Dictyostelium discoideum and inactivation of the ADPRT gene in the mouse JOURNAL Biochimie 77 (6), 444-449 (1995) PUBMED 7578427 REFERENCE 9 (residues 1 to 1014) AUTHORS Hupp K, Siwarski D, Mock BA and Kinet JP. TITLE Gene mapping of the three subunits of the high affinity FcR for IgE to mouse chromosomes 1 and 19 JOURNAL J Immunol 143 (11), 3787-3791 (1989) PUBMED 2531187 REFERENCE 10 (residues 1 to 1014) AUTHORS Huppi K, Bhatia K, Siwarski D, Klinman D, Cherney B and Smulson M. TITLE Sequence and organization of the mouse poly (ADP-ribose) polymerase gene JOURNAL Nucleic Acids Res 17 (9), 3387-3401 (1989) PUBMED 2498841 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ153239.1, AK159433.1 and AC167020.3. On May 16, 2002 this sequence version replaced NP_031441.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK088679.1, AK166104.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1014 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 84.44 cM" Protein 1..1014 /product="poly [ADP-ribose] polymerase 1" /EC_number="2.4.2.30" /note="ADP-ribosyltransferase diphtheria toxin-like 1; ADP-ribosyltransferase (NAD+, poly (ADP-ribose) polymerase) 1; ADPRT 1; poly[ADP-ribose] synthetase 1; NAD(+) ADP-ribosyltransferase 1; poly[ADP-ribose] synthase 1; poly(ADP-ribose) polymerase; DNA ADP-ribosyltransferase PARP1; protein poly-ADP-ribosyltransferase PARP1" /calculated_mol_wt=112591 Region 9..1010 /region_name="PLN03123" /note="poly [ADP-ribose] polymerase; Provisional" /db_xref="CDD:215590" CDS 1..1014 /gene="Parp1" /gene_synonym="5830444G22Rik; Adprp; Adprt1; ARTD1; msPARP; PARP; parp-1; PPOL; sPARP-1" /coded_by="NM_007415.3:144..3188" /db_xref="CCDS:CCDS15569.1" /db_xref="GeneID:11545" /db_xref="MGI:MGI:1340806" ORIGIN 1 maeaserlyr veyaksgras ckkcsesipk dslrmaimvq spmfdgkvph wyhfscfwkv 61 ghsirqpdve vdgfselrwd dqqkvkktae aggvagkgqd gsggkaektl gdflaeyaks 121 nrsmckgcle kiekgqmrls kkmvdpekpq lgmidrwyhp tcfvkkrdel gfrpeysasq 181 lkgfsllsae dkealkkqlp aiknegkrkg devdgtdeva kkkskkgkdk dssklekalk 241 aqneliwnik delkkacstn dlkellifnq qqvpsgesai ldrvadgmaf gallpckecs 301 gqlvfksday yctgdvtawt kcmvktqnps rkewvtpkef reisylkklk vkkqdrifpp 361 essapaplal plsvtsapta vnssapadkp lsnmkiltlg klsqnkdeak avieklggkl 421 tgsankaslc istkkevekm skkmeevkaa nvrvvcedfl qdvsastksl qellsahsls 481 swgaevkaep gevvapkgks aapskkskga vkeegvnkse krmkltlkgg aavdpdsgle 541 hsahvlekgg kvfsatlglv divkgtnsyy klqlleddke srywifrswg rvgtvigsnk 601 leqmpskeda vehfmklyee ktgnawhskn ftkypkkfyp leidygqdee avkkltvkpg 661 tksklpkpvq elvgmifdve smkkalveye idlqkmplgk lsrrqiqaay silsevqqav 721 sqgssesqil dlsnrfytli phdfgmkkpp llnnadsvqa kvemldnlld ievaysllrg 781 gsddsskdpi dvnyeklktd ikvvdrdsee aevirkyvkn thatthnayd levidifkie 841 regesqrykp frqlhnrrll whgsrttnfa gilsqglria ppeapvtgym fgkgiyfadm 901 vsksanycht sqgdpiglil lgevalgnmy elkhashisk lpkgkhsvkg lgkttpdpsa 961 sitlegvevp lgtgipsgvn dtcllyneyi vydiaqvnlk yllklkfnfk tslw // LOCUS NP_035995 356 aa linear ROD 09-OCT-2023 DEFINITION poly(rC)-binding protein 1 [Mus musculus]. ACCESSION NP_035995 VERSION NP_035995.1 DBSOURCE REFSEQ: accession NM_011865.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 356) AUTHORS Yang ZY, Zhang WL, Jiang CW and Sun G. TITLE PCBP1-mediated regulation of WNT signaling is critical for breast tumorigenesis JOURNAL Cell Biol Toxicol 39 (5), 2331-2343 (2023) PUBMED 35639300 REMARK GeneRIF: PCBP1-mediated regulation of WNT signaling is critical for breast tumorigenesis. REFERENCE 2 (residues 1 to 356) AUTHORS Yang X, Yabe-Wada T, Han J, Saito F, Ogasawara C, Yamada S and Onai N. TITLE PCBP1 acts as a regulator of CCL2 expression in macrophages to induce recruitment of monocyte-derived macrophages into the inflamed colon JOURNAL Int Immunol 35 (6), 287-299 (2023) PUBMED 36702545 REMARK GeneRIF: PCBP1 acts as a regulator of CCL2 expression in macrophages to induce recruitment of monocyte-derived macrophages into the inflamed colon. REFERENCE 3 (residues 1 to 356) AUTHORS Grelet S, Frereux C, Obellianne C, Noguchi K, Howley BV, Dalton AC and Howe PH. TITLE TGFbeta-induced expression of long noncoding lincRNA Platr18 controls breast cancer axonogenesis JOURNAL Life Sci Alliance 5 (2), e202101261 (2021) PUBMED 34810279 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 356) AUTHORS Ji X, Jha A, Humenik J, Ghanem LR, Kromer A, Duncan-Lewis C, Traxler E, Weiss MJ, Barash Y and Liebhaber SA. TITLE RNA-Binding Proteins PCBP1 and PCBP2 Are Critical Determinants of Murine Erythropoiesis JOURNAL Mol Cell Biol 41 (9), e0066820 (2021) PUBMED 34180713 REMARK GeneRIF: RNA-Binding Proteins PCBP1 and PCBP2 Are Critical Determinants of Murine Erythropoiesis. REFERENCE 5 (residues 1 to 356) AUTHORS Mohanty BK, Karam JA, Howley BV, Dalton AC, Grelet S, Dincman T, Streitfeld WS, Yoon JH, Balakrishnan L, Chazin WJ, Long DT and Howe PH. TITLE Heterogeneous nuclear ribonucleoprotein E1 binds polycytosine DNA and monitors genome integrity JOURNAL Life Sci Alliance 4 (9), e202000995 (2021) PUBMED 34272328 REMARK GeneRIF: Heterogeneous nuclear ribonucleoprotein E1 binds polycytosine DNA and monitors genome integrity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 356) AUTHORS Papin J and Subramaniam S. TITLE Bioinformatics and cellular signaling JOURNAL Curr Opin Biotechnol 15 (1), 78-81 (2004) PUBMED 15102471 REMARK Review article REFERENCE 7 (residues 1 to 356) AUTHORS Li KW, Hornshaw MP, Van Der Schors RC, Watson R, Tate S, Casetta B, Jimenez CR, Gouwenberg Y, Gundelfinger ED, Smalla KH and Smit AB. TITLE Proteomics analysis of rat brain postsynaptic density. Implications of the diverse protein functional groups for the integration of synaptic physiology JOURNAL J Biol Chem 279 (2), 987-1002 (2004) PUBMED 14532281 REFERENCE 8 (residues 1 to 356) AUTHORS Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S, Bono H, Okazaki Y and Hayashizaki Y. TITLE Protein-protein interaction panel using mouse full-length cDNAs JOURNAL Genome Res 11 (10), 1758-1765 (2001) PUBMED 11591653 REFERENCE 9 (residues 1 to 356) AUTHORS Bedford MT, Sarbassova D, Xu J, Leder P and Yaffe MB. TITLE A novel pro-Arg motif recognized by WW domains JOURNAL J Biol Chem 275 (14), 10359-10369 (2000) PUBMED 10744724 REFERENCE 10 (residues 1 to 356) AUTHORS Makeyev AV, Chkheidze AN and Liebhaber SA. TITLE A set of highly conserved RNA-binding proteins, alphaCP-1 and alphaCP-2, implicated in mRNA stabilization, are coexpressed from an intronless gene and its intron-containing paralog JOURNAL J Biol Chem 274 (35), 24849-24857 (1999) PUBMED 10455157 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153374.5. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC069915.1, AF139894.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..356 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 37.72 cM" Protein 1..356 /product="poly(rC)-binding protein 1" /note="heterogeneous nuclear ribonucleoprotein E1; alpha-CP1" /calculated_mol_wt=37367 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q15365; propagated from UniProtKB/Swiss-Prot (P60335.1)" Region 13..82 /region_name="KH-I_PCBP1_2_rpt1" /note="first type I K homology (KH) RNA-binding domain found in poly(rC)-binding protein 1 (PCBP1) and similar proteins; cd22515" /db_xref="CDD:411943" Site order(22,26..27,29..33,36,40,48..51,53,57) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:411943" Region 92..169 /region_name="KH-I_PCBP1_2_rpt2" /note="second type I K homology (KH) RNA-binding domain found in poly(rC)-binding protein 1 (PCBP1) and similar proteins; cd22518" /db_xref="CDD:411946" Site order(105,110..111,113..117,120,124,132..134,140,144) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:411946" Site 173 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P60335.1)" Site 189 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P60335.1)" Site 190 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P60335.1)" Site 246 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q15365; propagated from UniProtKB/Swiss-Prot (P60335.1)" Site 264 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q15365; propagated from UniProtKB/Swiss-Prot (P60335.1)" Site 273 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q15365; propagated from UniProtKB/Swiss-Prot (P60335.1)" Region 276..351 /region_name="KH-I_PCBP1_2_rpt3" /note="third type I K homology (KH) RNA-binding domain found in poly(rC)-binding protein 1 (PCBP1) and similar proteins; cd22521" /db_xref="CDD:411949" Site order(289..293,295..299,301..303,306,314..315,317,325,350) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:411949" CDS 1..356 /gene="Pcbp1" /gene_synonym="alphaCP-1; hnRNP E1; hnRNP-E1; WBP17; [a]CP-1" /coded_by="NM_011865.4:275..1345" /db_xref="CCDS:CCDS20314.1" /db_xref="GeneID:23983" /db_xref="MGI:MGI:1345635" ORIGIN 1 mdagvtesgl nvtltirllm hgkevgsiig kkgesvkrir eesgarinis egncperiit 61 ltgptnaifk afamiidkle edinssmtns taasrppvtl rlvvpatqcg sligkggcki 121 keirestgaq vqvagdmlpn steraitiag vpqsvtecvk qiclvmletl sqspqgrvmt 181 ipyqpmpass pvicaggqdr csdaagypha thdlegppld aysiqgqhti spldlaklnq 241 varqqshfam mhggtgfagi dssspevkgy wasldastqt theltipnnl igciigrqga 301 nineirqmsg aqikianpve gssgrqvtit gsaasislaq ylinarlsse kgmgcs // LOCUS NP_001397159 491 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform h [Mus musculus]. ACCESSION NP_001397159 VERSION NP_001397159.1 DBSOURCE REFSEQ: accession NM_001410230.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 491) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 491) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 491) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 491) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 491) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 491) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 491) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 491) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 491) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 491) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784648.1336702.1, SRR12282455.3925931.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..491 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..491 /product="nuclear respiratory factor 1 isoform h" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=52353 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..491 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410230.1:271..1746" /note="isoform h is encoded by transcript variant 20" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglfmadcgg ykwilarrlq 481 vgsslgregs s // LOCUS NP_001342406 657 aa linear ROD 09-OCT-2023 DEFINITION broad substrate specificity ATP-binding cassette transporter ABCG2 [Mus musculus]. ACCESSION NP_001342406 XP_006506214 VERSION NP_001342406.1 DBSOURCE REFSEQ: accession NM_001355477.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 657) AUTHORS Notsu T, Kurata Y, Ninomiya H, Taufiq F, Komatsu K, Miake J, Sawano T, Tsuneto M, Shirayoshi Y and Hisatome I. TITLE Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells JOURNAL Hypertens Res 46 (10), 2368-2377 (2023) PUBMED 37592041 REMARK GeneRIF: Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells. REFERENCE 2 (residues 1 to 657) AUTHORS Harby SA, Khalil NA, El-Sayed NS, Thabet EH, Saleh SR and Fathelbab MH. TITLE Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine JOURNAL Naunyn Schmiedebergs Arch Pharmacol 396 (10), 2627-2636 (2023) PUBMED 37067582 REMARK GeneRIF: Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine. REFERENCE 3 (residues 1 to 657) AUTHORS Blanco-Paniagua E, Alvarez-Fernandez L, Rodriguez-Alonso A, Millan-Garcia A, Alvarez AI and Merino G. TITLE Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin JOURNAL Antimicrob Agents Chemother 67 (5), e0009523 (2023) PUBMED 37078871 REMARK GeneRIF: Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin. REFERENCE 4 (residues 1 to 657) AUTHORS Wu C, Xiao Y, Wu C, Xie D, Luo M, Yao D, Chen M and Lu D. TITLE Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha JOURNAL Xenobiotica 53 (3), 215-222 (2023) PUBMED 37039301 REMARK GeneRIF: Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha. REFERENCE 5 (residues 1 to 657) AUTHORS Alvarez-Fernandez L, Gomez-Gomez A, Haro N, Garcia-Lino AM, Alvarez AI, Pozo OJ and Merino G. TITLE ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites JOURNAL J Pineal Res 74 (2), e12849 (2023) PUBMED 36562106 REMARK GeneRIF: ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites. REFERENCE 6 (residues 1 to 657) AUTHORS Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF and Kornblum HI. TITLE A genetic analysis of neural progenitor differentiation JOURNAL Neuron 29 (2), 325-339 (2001) PUBMED 11239426 REFERENCE 7 (residues 1 to 657) AUTHORS Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH and Schinkel AH. TITLE Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan JOURNAL J Natl Cancer Inst 92 (20), 1651-1656 (2000) PUBMED 11036110 REFERENCE 8 (residues 1 to 657) AUTHORS Schriml LM and Dean M. TITLE Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus JOURNAL Genomics 64 (1), 24-31 (2000) PUBMED 10708515 REFERENCE 9 (residues 1 to 657) AUTHORS Allen JD, Brinkhuis RF, Wijnholds J and Schinkel AH. TITLE The mouse Bcrp1/Mxr/Abcp gene: amplification and overexpression in cell lines selected for resistance to topotecan, mitoxantrone, or doxorubicin JOURNAL Cancer Res 59 (17), 4237-4241 (1999) PUBMED 10485464 REFERENCE 10 (residues 1 to 657) AUTHORS Allikmets R, Schriml LM, Hutchinson A, Romano-Spica V and Dean M. TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance JOURNAL Cancer Res 58 (23), 5337-5339 (1998) PUBMED 9850061 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121855.3 and AC121859.2. On Apr 20, 2020 this sequence version replaced XP_006506214.1. Summary: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189685.124441.1, SRR5189679.96595.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..657 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 27.82 cM" Protein 1..657 /product="broad substrate specificity ATP-binding cassette transporter ABCG2" /EC_number="7.6.2.2" /note="mitoxantrone resistance protein 1; ATP-binding cassette sub-family G member 2; breast cancer resistance protein 1 homolog; urate exporter; ATP-binding cassette, sub-family G (WHITE), member 2" /calculated_mol_wt=72891 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Region 46..651 /region_name="3a01204" /note="The Eye Pigment Precursor Transporter (EPP) Family protein; TIGR00955" /db_xref="CDD:273361" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 429..449 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 478..498 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 507..527 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 536..556 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 596 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 633..653 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" CDS 1..657 /gene="Abcg2" /gene_synonym="ABC15; ABCP; BCRP; Bcrp1; MXR; MXR1" /coded_by="NM_001355477.2:145..2118" /db_xref="CCDS:CCDS20195.1" /db_xref="GeneID:26357" /db_xref="MGI:MGI:1347061" ORIGIN 1 msssndhvlv pmsqrnnngl prmnsravrt laegdvlsfh hityrvkvks gflvrktvek 61 eilsdingim kpglnailgp tgggksslld vlaarkdpkg lsgdvlinga pqpahfkccs 121 gyvvqddvvm gtltvrenlq fsaalrlptt mknhekneri ntiikelgle kvadskvgtq 181 firgisgger krtsigmeli tdpsilflde pttgldssta navllllkrm skqgrtiifs 241 ihqprysifk lfdsltllas gklvfhgpaq kaleyfasag yhcepynnpa dffldvingd 301 ssavmlnree qdneanktee pskgekpvie nlsefyinsa iygetkaeld qlpgaqekkg 361 tsafkepvyv tsfchqlrwi arrsfknllg npqasvaqli vtvilgliig aiyfdlkyda 421 agmqnragvl fflttnqcfs svsavelfvv ekklfiheyi sgyyrvssyf fgkvmsdllp 481 mrflpsvift cilyfmlglk ktvdaffimm ftlimvayta ssmalaiatg qsvvsvatll 541 mtiafvfmml fsgllvnlrt igpwlswlqy fsiprygfta lqyneflgqe fcpgfnvtdn 601 stcvnsyaic tgneylinqg ielspwglwk nhvalacmii ifltiaylkl lflkkys // LOCUS NP_001278098 903 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform f [Mus musculus]. ACCESSION NP_001278098 XP_006498953 VERSION NP_001278098.1 DBSOURCE REFSEQ: accession NM_001291169.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 903) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 903) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 903) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 903) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 903) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 903) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 903) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 903) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 903) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 903) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887581.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498953.1. Transcript Variant: This variant (6, also known as IA-deltaII-Xa) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, and it also contains an additional exon that results in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (f) has distinct N- and C-termini and is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887581.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..903 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..903 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform f" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=97487 Region 380..554 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(403,406,408..409,411..413,461,502,504..505,519..520, 522,553) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 559..659 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(583,647) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..903 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291169.1:120..2831" /note="isoform f is encoded by transcript variant 6" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mqrpalrrpg prqplrtmgs adreepiahk aisspsglay pddvldyglk pcnplaslsg 61 eppgrfgepd sigfqnflsp vkpagasgps prieitpshe lmqaggalrg rdaglspeqp 121 alalagvaas prftlpvpgy egyreplcls passgssasf isdtfspyts pcvspnnagp 181 ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv prpasrsssp gakrrhscae 241 alvaplpaas pqrsrspspq psphvalqdd sipagyppta gsavlmdaln tlatdspcgi 301 pskiwktspd ptpvstapsk aglarhiypt veflgpceqe errnsapesi llvpptwpkq 361 lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp hhrahyeteg srgavkaptg 421 ghpvvqlhgy menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv 481 leiplepknn mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv 541 slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg 601 qqiwemeatv dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv 661 paiktepsde yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp 721 daryqqqspa aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst 781 lphtssasqq aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls 841 pgayptviqq qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtyldde lidthlswiq 901 nil // LOCUS NP_001390653 736 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 1 [Mus musculus]. ACCESSION NP_001390653 XP_006530711 VERSION NP_001390653.1 DBSOURCE REFSEQ: accession NM_001403724.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 736) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 736) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 736) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 736) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 736) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 736) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 736) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 736) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 736) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 736) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. On Apr 4, 2022 this sequence version replaced XP_006530711.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13948564.4200465.1, SRR13422600.150052.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..736 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..736 /product="transcriptional repressor CTCF isoform 1" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83615 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 573..686 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 699..726 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..736 /gene="Ctcf" /coded_by="NM_001403724.1:758..2968" /note="isoform 1 is encoded by transcript variant 4" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqptaii qvedqntgai eniivevkke pdaepaegee eeaqaattda 721 pngdltpemi lsmmdr // LOCUS NP_001394509 426 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 4 [Mus musculus]. ACCESSION NP_001394509 XP_017176378 VERSION NP_001394509.1 DBSOURCE REFSEQ: accession NM_001407580.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 426) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 426) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 426) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 426) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 426) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 426) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 426) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 426) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 426) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 426) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_017176378.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784644.895398.1, SRR17784645.974247.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..426 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..426 /product="mitogen-activated protein kinase 10 isoform 4" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=47767 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..426 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407580.1:658..1938" /note="isoform 4 is encoded by transcript variant 15" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdlws vgcimgemvk gtvlfpgtdh idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsg aavnsseslp psssvndiss mstdqtlasd tdssleasag 421 plgccr // LOCUS NP_001313280 1657 aa linear ROD 09-OCT-2023 DEFINITION A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 4 preproprotein [Mus musculus]. ACCESSION NP_001313280 XP_006510821 VERSION NP_001313280.1 DBSOURCE REFSEQ: accession NM_001326351.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1657) AUTHORS Sharifi MA, Wierer M, Dang TA, Milic J, Moggio A, Sachs N, von Scheidt M, Hinterdobler J, Muller P, Werner J, Stiller B, Aherrahrou Z, Erdmann J, Zaliani A, Graettinger M, Reinshagen J, Gul S, Gribbon P, Maegdefessel L, Bernhagen J, Sager HB, Mann M, Schunkert H and Kessler T. TITLE ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1 JOURNAL Circ Res 133 (8), 674-686 (2023) PUBMED 37675562 REMARK GeneRIF: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1. REFERENCE 2 (residues 1 to 1657) AUTHORS Gong Z, Huang J, Wang D, Yang S, Ma Z, Fu Y, Ma Q and Kong W. TITLE ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice JOURNAL J Mol Med (Berl) 101 (3), 237-248 (2023) PUBMED 36662289 REMARK GeneRIF: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice. REFERENCE 3 (residues 1 to 1657) AUTHORS Ma Z, Mao C, Jia Y, Yu F, Xu P, Tan Y, Zou QH, Zhou XJ, Kong W and Fu Y. TITLE ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries JOURNAL J Am Soc Nephrol 34 (2), 291-308 (2023) PUBMED 36735376 REMARK GeneRIF: ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries. REFERENCE 4 (residues 1 to 1657) AUTHORS Jaiswal AK and Mishra A. TITLE ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses JOURNAL Lung 200 (3), 305-313 (2022) PUBMED 35503474 REMARK GeneRIF: ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses. REFERENCE 5 (residues 1 to 1657) AUTHORS Mizoguchi T, MacDonald BT, Bhandary B, Popp NR, Laprise D, Arduini A, Lai D, Zhu QM, Xing Y, Kaushik VK, Kathiresan S and Ellinor PT. TITLE Coronary Disease Association With ADAMTS7 Is Due to Protease Activity JOURNAL Circ Res 129 (4), 458-470 (2021) PUBMED 34176299 REFERENCE 6 (residues 1 to 1657) AUTHORS Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP and Liu CJ. TITLE ADAMTS-7 forms a positive feedback loop with TNF-alpha in the pathogenesis of osteoarthritis JOURNAL Ann Rheum Dis 73 (8), 1575-1584 (2014) PUBMED 23928557 REMARK GeneRIF: ADAMTS-7 and TNF-alpha form a positive feedback loop in the regulation of cartilage degradation and osteoarthritis progression. REFERENCE 7 (residues 1 to 1657) AUTHORS Du J, Takeuchi H, Leonhard-Melief C, Shroyer KR, Dlugosz M, Haltiwanger RS and Holdener BC. TITLE O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation JOURNAL Dev Biol 346 (1), 25-38 (2010) PUBMED 20637190 REFERENCE 8 (residues 1 to 1657) AUTHORS Bai XH, Wang DW, Kong L, Zhang Y, Luan Y, Kobayashi T, Kronenberg HM, Yu XP and Liu CJ. TITLE ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor JOURNAL Mol Cell Biol 29 (15), 4201-4219 (2009) PUBMED 19487464 REMARK GeneRIF: Findings demonstrate that ADAMTS-7, a direct target of PTHrP signaling, negatively regulates endochondral bone formation by associating with and inactivating GEP chondrogenic growth factor. REFERENCE 9 (residues 1 to 1657) AUTHORS Somerville RP, Longpre JM, Apel ED, Lewis RM, Wang LW, Sanes JR, Leduc R and Apte SS. TITLE ADAMTS7B, the full-length product of the ADAMTS7 gene, is a chondroitin sulfate proteoglycan containing a mucin domain JOURNAL J Biol Chem 279 (34), 35159-35175 (2004) PUBMED 15192113 REMARK GeneRIF: ADAMTS7B has a domain organization with a total of eight thrombospondin type 1 repeats in its ancillary domain. Of these, seven are arranged in two distinct clusters that are separated by a mucin domain REFERENCE 10 (residues 1 to 1657) AUTHORS Hurskainen TL, Hirohata S, Seldin MF and Apte SS. TITLE ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family JOURNAL J Biol Chem 274 (36), 25555-25563 (1999) PUBMED 10464288 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BY347798.1, BC076575.1, CB246893.1, AC140392.3 and BC058991.1. On May 15, 2016 this sequence version replaced XP_006510821.1. Summary: This gene encodes a member of 'a disintegrin and metalloproteinase with thrombospondin motifs' (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on the transcript AY551090.1. An unsupported intron in the 3' coding region of this transcript was replaced with sequence from the reference genome assembly. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR10223969.9220.1, SRR9219380.72908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1657 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="9" /map="9 47.46 cM" Protein 1..1657 /product="A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 4 preproprotein" /EC_number="3.4.24.-" /note="a disintegrin and metalloproteinase with thrombospondin motifs 7; COMPase; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7" /calculated_mol_wt=180212 sig_peptide 1..20 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" /calculated_mol_wt=2121 Region 34..174 /region_name="Pep_M12B_propep" /note="Reprolysin family propeptide; pfam01562" /db_xref="CDD:426325" Site 84 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 165..221 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 192..199 /region_name="Cysteine switch. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" mat_peptide 221..1657 /product="A disintegrin and metalloproteinase with thrombospondin motifs 7. /id=PRO_0000348235" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" /calculated_mol_wt=157959 Region 226..434 /region_name="ZnMc_ADAMTS_like" /note="Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that...; cd04273" /db_xref="CDD:239801" Site order(372..373,376,382) /site_type="active" /db_xref="CDD:239801" Region 449..513 /region_name="ADAM_CR_2" /note="ADAM cysteine-rich domain; pfam17771" /db_xref="CDD:436031" Region 526..578 /region_name="TSP1" /note="Thrombospondin type 1 repeats; smart00209" /db_xref="CDD:214559" Region 584..682 /region_name="ADAM_CR_3" /note="ADAM cysteine-rich domain; pfam19236" /db_xref="CDD:437068" Site 622 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 683..794 /region_name="Spacer" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 684..793 /region_name="ADAM_spacer1" /note="ADAM-TS Spacer 1; pfam05986" /db_xref="CDD:428708" Region 808..862 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 866..922 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 929..977 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1009..1034 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region <1065..1403 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 1073..1127 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 1140..1237 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 1283..1304 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 1317..1384 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q68SA9.3)" Region 1386..1434 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1437..1492 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1495..1541 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 1544..1599 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" CDS 1..1657 /gene="Adamts7" /gene_synonym="ADAM-TS7; ADAMTS7B" /coded_by="NM_001326351.1:268..5241" /note="isoform 4 preproprotein is encoded by transcript variant 4" /db_xref="CCDS:CCDS85708.1" /db_xref="GeneID:108153" /db_xref="MGI:MGI:1347346" ORIGIN 1 mhrgpsllli lcalasrvlg pasglvtegr agldivhpvr vdaggsflsy elwprvlrkr 61 dvsttqassa fyqlqyqgre llfnlttnpy lmapgfvsei rrhstlghah iqtsvptchl 121 lgdvqdpele ggfaaisacd glrgvfqlsn edyfiepldg vsaqpghaqp hvvykhqgsr 181 kqaqqgdsrp sgtcgmqvpp dleqqrehwe qqqqkrrqqr svskekwvet lvvadskmve 241 yhgqpqvesy vltimnmvag lfhdpsignp ihisivrlii ledeekdlki thhaeetlkn 301 fcrwqknini kgddhpqhhd tailltrkdl casmnqpcet lglshvsglc hpqlscsvse 361 dtgmplaftv ahelghsfgi qhdgtgndce sigkrpfims pqllydrgip ltwsrcsrey 421 itrfldrgwg lclddrpskd vialpsvlpg vlydvnhqcr lqygshsayc edmddvchtl 481 wcsvgttchs kldaavdgts cgknkwclkg ecvpegfqpe avdggwsgws awsdcsrscg 541 vgvrsserqc tqpvpknrgk ycvgerkrsq lcnlpacppd rpsfrhtqcs qfdgmlykgk 601 lhkwvpvpnd dnpcelhcrp snssnteklr davvdgtpcy qsrisrdicl ngicknvgcd 661 fvidsgaeed rcgvcrgdgs tcqtvsrtfk etegqgyvdi glipagarei lieevaeaan 721 flalrsedpd kyflnggwti qwngdyrvag ttftyarkgn wenltspgpt sepvwiqllf 781 qeknpgvhyq ytiqrdshdq vrppefswhy gpwskctvtc gtgvqrqsly cmerqagvva 841 eeycntlnrp derqrkcsee pcpprwwage wqpcsrscgp eglsrravfc irsmgldeqr 901 alelsacehl prplaetpcn rhvicpstwg vgnwsqcsvt cgagirqrsv lcinntdvpc 961 deaerpitet fcflqpcqyp myivdtgasg sgssspelfn evdfipnqla prpspasspk 1021 pvsisnaide eeldppgpvf vddfyydynf infhedlsyg sfeephpdlv dnggwtapph 1081 irptespsdt pvptagalga eaediqgsws pspllseasy sppgleqtsi nplanfltee 1141 dtpmgapelg fpslpwppas vddmmtpvgp gnpdellvke deqsppstpw sdrnklstdg 1201 nplghtspal pqspiptqps ppsisptqas pspdvvevst gwnaawdpvl eadlkpghge 1261 lpstvevasp pllpmatvpg iwgrdsplep gtptfsspel ssqhlktltm pgtllltvpt 1321 dlrspgpsgq pqtpnlegtq spgllptpar etqtnsskdp evqplqpsle edgdpadplp 1381 arnaswqvgn wsqcsttcgl gaiwrlvscs sgndedctla srpqparhch lrpcaawrtg 1441 nwskcsrncg ggsstrdvqc vdtrdlrplr pfhcqpgptk ppnrqlcgtq pclpwytssw 1501 recseacggg eqqrlvtcpe pglceeslrp nnsrpcnthp ctqwvvgpwg qcsapcgggv 1561 qrrlvrcvnt qtglaeedsd lcsheawpes srpcatedce lvepprcerd rlsfnfcetl 1621 rllgrcqlpt iraqccrscp plsrgvpsrg hqrvarr // LOCUS NP_001394517 390 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 10 [Mus musculus]. ACCESSION NP_001394517 XP_011247752 VERSION NP_001394517.1 DBSOURCE REFSEQ: accession NM_001407588.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 390) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 390) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 390) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 390) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 390) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 390) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 390) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 390) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 390) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 390) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_011247752.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189685.206118.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..390 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..390 /product="mitogen-activated protein kinase 10 isoform 10" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=44139 Region 6..324 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(36,80,115,117,136,147,149..152,154,191) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(76,82,91,94,123..127,287..288,290,293) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(132..142,146..154) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..390 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407588.1:226..1398" /note="isoform 10 is encoded by transcript variant 18" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mntwsaayda vldrnvaikk lsrpfqnqth akrayrelvl mkcvnhknii sllnvftpqk 61 tleefqdvyl vmelmdanlc qviqmeldhe rmsyllyqml cgikhlhsag iihrdlkpsn 121 ivvksdctlk ildfglarta gtsfmmtpyv vtryyrapev ilgmgykenv diwsvgcimg 181 emvrhkilfp grdyidqwnk vieqlgtpcp efmkklqptv rnyvenrpky agltfpklfp 241 dslfpadseh nklkasqard llskmlvidp akrisvddal qhpyinvwyd paeveapppq 301 iydkqldere htieewkeli ykevmnseek tkngvvkgqp spsgaavnss eslppsssvn 361 dissmstdqt lasdtdssle asagplgccr // LOCUS NP_001271339 91 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 4 [Mus musculus]. ACCESSION NP_001271339 VERSION NP_001271339.2 DBSOURCE REFSEQ: accession NM_001284410.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 91) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 91) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 91) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 91) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 91) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 91) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 91) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 91) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 91) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 91) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. On May 9, 2022 this sequence version replaced NP_001271339.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422598.789237.1, BC058175.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849378, SAMN00849379 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..91 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..91 /product="bcl-2-like protein 11 isoform 4" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=9862 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" CDS 1..91 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001284410.3:221..496" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa mdqlenlnqv aqnihgdawy n // LOCUS NP_001342569 415 aa linear ROD 09-OCT-2023 DEFINITION 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 2 [Mus musculus]. ACCESSION NP_001342569 XP_006520016 VERSION NP_001342569.1 DBSOURCE REFSEQ: accession NM_001355640.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 415) AUTHORS Yang Y, Yuan K, Liu Y, Wang Q, Lin Y, Yang S, Huang K, Kan T, Zhang Y, Xu M, Yu Z, Fan Q, Wang Y, Li H and Tang T. TITLE Constitutively activated AMPKalpha1 protects against skeletal aging in mice by promoting bone-derived IGF-1 secretion JOURNAL Cell Prolif 56 (10), e13476 (2023) PUBMED 37042047 REMARK GeneRIF: Constitutively activated AMPKalpha1 protects against skeletal aging in mice by promoting bone-derived IGF-1 secretion. REFERENCE 2 (residues 1 to 415) AUTHORS Zahedi E, Sadr SS, Sanaeierad A and Roghani M. TITLE Valproate-induced murine autism spectrum disorder is associated with dysfunction of amygdala parvalbumin interneurons and downregulation of AMPK/SIRT1/PGC1alpha signaling JOURNAL Metab Brain Dis 38 (6), 2093-2103 (2023) PUBMED 37184727 REMARK GeneRIF: Valproate-induced murine autism spectrum disorder is associated with dysfunction of amygdala parvalbumin interneurons and downregulation of AMPK/SIRT1/PGC1alpha signaling. REFERENCE 3 (residues 1 to 415) AUTHORS Knaus LS, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler FM, Knittl-Frank C, Tassinari M, Maulide N, Rulicke T, Menche J, Hippenmeyer S and Novarino G. TITLE Large neutral amino acid levels tune perinatal neuronal excitability and survival JOURNAL Cell 186 (9), 1950-1967 (2023) PUBMED 36996814 REFERENCE 4 (residues 1 to 415) AUTHORS Bustamante-Barrientos FA, Mendez-Ruette M, Molina L, Koning T, Ehrenfeld P, Gonzalez CB, Wyneken U, Henzi R and Batiz LF. TITLE Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK JOURNAL Front Cell Dev Biol 11, 1061777 (2023) PUBMED 37113766 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 415) AUTHORS Aguiar CF, Correa-da-Silva F, Gonzatti MB, Angelim MK, Pretti MA, Davanzo GG, Castelucci BG, Monteiro LB, Castro G, Virgilio-da-Silva JV, Ribeiro G, Jaccomo V, Pereira Andrade MC, Costa WL, Gambarini V, Terra FF, Alves-Filho JC, Saraiva Camara NO, Boroni M, Keller AC and Moraes-Vieira PM. TITLE Tissue-specific metabolic profile drives iNKT cell function during obesity and liver injury JOURNAL Cell Rep 42 (1), 112035 (2023) PUBMED 36848232 REFERENCE 6 (residues 1 to 415) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 7 (residues 1 to 415) AUTHORS Sato T, Sato-Harada R, Takano M, Kato S, Saburi S and Harada A. TITLE Localization of cAMP-dependent protein kinase in the actin and microtubule cytoskeletons in mouse hippocampal neurons JOURNAL Neurosci Lett 325 (2), 83-86 (2002) PUBMED 12044627 REFERENCE 8 (residues 1 to 415) AUTHORS Fryer LG, Foufelle F, Barnes K, Baldwin SA, Woods A and Carling D. TITLE Characterization of the role of the AMP-activated protein kinase in the stimulation of glucose transport in skeletal muscle cells JOURNAL Biochem J 363 (Pt 1), 167-174 (2002) PUBMED 11903059 REFERENCE 9 (residues 1 to 415) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 REFERENCE 10 (residues 1 to 415) AUTHORS Turnley AM, Stapleton D, Mann RJ, Witters LA, Kemp BE and Bartlett PF. TITLE Cellular distribution and developmental expression of AMP-activated protein kinase isoforms in mouse central nervous system JOURNAL J Neurochem 72 (4), 1707-1716 (1999) PUBMED 10098881 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC135079.9. On Sep 22, 2017 this sequence version replaced XP_006520016.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.149686.1, ERR3363658.2031903.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..415 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 1.99 cM" Protein 1..415 /product="5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 2" /EC_number="2.7.11.1" /EC_number="2.7.11.26" /EC_number="2.7.11.27" /EC_number="2.7.11.31" /note="5'-AMP-activated protein kinase catalytic subunit alpha-1; AMP-activated protein kinase, alpha 1 catalytic subunit; AMPK subunit alpha-1; ACACA kinase; HMGCR kinase; acetyl-CoA carboxylase kinase; hydroxymethylglutaryl-CoA reductase kinase; tau-protein kinase PRKAA1" /calculated_mol_wt=47089 Region <1..135 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Region 152..216 /region_name="UBA_AID_AAPK1" /note="UBA-like autoinhibitory domain (AID) found in vertebrate 5'-AMP-activated protein kinase catalytic subunit alpha-1 (AMPKalpha-1); cd14403" /db_xref="CDD:270586" Region 260..413 /region_name="AMPKA1_C" /note="C-terminal regulatory domain of 5'-AMP-activated protein kinase (AMPK) alpha 1 catalytic subunit; cd12199" /db_xref="CDD:213384" Site order(260..266,268,273,295..297,317..321,326,329..332,334, 399,402..404,406..407,411) /site_type="other" /note="beta subunit interface [polypeptide binding]" /db_xref="CDD:213384" Site order(260,305,307,397..398,400..401,404) /site_type="other" /note="gamma subunit interface [polypeptide binding]" /db_xref="CDD:213384" CDS 1..415 /gene="Prkaa1" /gene_synonym="AMPKalpha1; C130083N04Rik" /coded_by="NM_001355640.1:347..1594" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:105787" /db_xref="MGI:MGI:2145955" ORIGIN 1 mvvhrdlkpe nvlldahmna kiadfglsnm msdgeflrts cgspnyaape visgrlyagp 61 evdiwssgvi lyallcgtlp fdddhvptlf kkicdgifyt pqylnpsvis llkhmlqvdp 121 mkraaikdir ehewfkqdlp kylfpedpsy sstmiddeal kevcekfecs eeevlsclyn 181 rnhqdplava yhliidnrri mneakdfyla tsppdsfldd hhltrphper vpflvaetpr 241 arhtldelnp qkskhqgvrk akwhlgirsq srpndimaev craikqldye wkvvnpyylr 301 vrrknpvtst fskmslqlyq vdsrtylldf rsiddeitea ksgtatpqrs gsisnyrscq 361 rsdsdaeaqg kpsdvsltss vtsldsspvd vaprpgshti effemcanli kilaq // LOCUS NP_058545 419 aa linear ROD 09-OCT-2023 DEFINITION interferon regulatory factor 3 [Mus musculus]. ACCESSION NP_058545 VERSION NP_058545.1 DBSOURCE REFSEQ: accession NM_016849.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 419) AUTHORS Bourdon M, Manet C, Conquet L, Ramauge Parra C, Kornobis E, Bonnefoy E and Montagutelli X. TITLE Susceptibility to Zika virus in a Collaborative Cross mouse strain is induced by Irf3 deficiency in vitro but requires other variants in vivo JOURNAL PLoS Pathog 19 (9), e1011446 (2023) PUBMED 37733807 REMARK GeneRIF: Susceptibility to Zika virus in a Collaborative Cross mouse strain is induced by Irf3 deficiency in vitro but requires other variants in vivo. Publication Status: Online-Only REFERENCE 2 (residues 1 to 419) AUTHORS Choi YA, Dhakal H, Lee S, Kim N, Lee B, Kwon TK, Khang D and Kim SH. TITLE IRF3 Activation in Mast Cells Promotes FcepsilonRI-Mediated Allergic Inflammation JOURNAL Cells 12 (11), 1493 (2023) PUBMED 37296614 REMARK GeneRIF: IRF3 Activation in Mast Cells Promotes FcepsilonRI-Mediated Allergic Inflammation. Publication Status: Online-Only REFERENCE 3 (residues 1 to 419) AUTHORS Wu H, Yan X, Zhao L, Li X, Li X, Zhang Y, Gu C, Yang F, Yan J, Lou Y, Li Y, Yang L, Qin X and Wang Y. TITLE p120-catenin promotes innate antiviral immunity through stabilizing TBK1-IRF3 complex JOURNAL Mol Immunol 157, 8-17 (2023) PUBMED 36958140 REMARK GeneRIF: p120-catenin promotes innate antiviral immunity through stabilizing TBK1-IRF3 complex. REFERENCE 4 (residues 1 to 419) AUTHORS Wang S, Chu F, Xia R, Guan J, Zhou L, Fang X, Dai T, Xie F, Zhang L and Zhou F. TITLE LPA maintains innate antiviral immunity in a pro-active state via STK38L-mediated IRF3 Ser303 phosphorylation JOURNAL Cell Rep 41 (8), 111661 (2022) PUBMED 36417850 REMARK GeneRIF: LPA maintains innate antiviral immunity in a pro-active state via STK38L-mediated IRF3 Ser303 phosphorylation. REFERENCE 5 (residues 1 to 419) AUTHORS Ko R, Seo J, Park H, Lee N and Lee SY. TITLE Pim1 promotes IFN-beta production by interacting with IRF3 JOURNAL Exp Mol Med 54 (11), 2092-2103 (2022) PUBMED 36446848 REMARK GeneRIF: Pim1 promotes IFN-beta production by interacting with IRF3. REFERENCE 6 (residues 1 to 419) AUTHORS Stockinger S, Materna T, Stoiber D, Bayr L, Steinborn R, Kolbe T, Unger H, Chakraborty T, Levy DE, Muller M and Decker T. TITLE Production of type I IFN sensitizes macrophages to cell death induced by Listeria monocytogenes JOURNAL J Immunol 169 (11), 6522-6529 (2002) PUBMED 12444163 REMARK GeneRIF: activation of transcription factor IFN regulatory factor 3, the synthesis of large amounts of IFN-beta mRNA, and IFN-alpha/beta signal transduction in macrophages infected with Listeria monocytogenes REFERENCE 7 (residues 1 to 419) AUTHORS Suhara W, Yoneyama M, Kitabayashi I and Fujita T. TITLE Direct involvement of CREB-binding protein/p300 in sequence-specific DNA binding of virus-activated interferon regulatory factor-3 holocomplex JOURNAL J Biol Chem 277 (25), 22304-22313 (2002) PUBMED 11940575 REMARK GeneRIF: Direct involvement of CREB-binding protein/p300 in sequence-specific DNA binding of virus-activated interferon regulatory factor-3 holocomplex. REFERENCE 8 (residues 1 to 419) AUTHORS Malakhova O, Malakhov M, Hetherington C and Zhang DE. TITLE Lipopolysaccharide activates the expression of ISG15-specific protease UBP43 via interferon regulatory factor 3 JOURNAL J Biol Chem 277 (17), 14703-14711 (2002) PUBMED 11854279 REMARK GeneRIF: role in regulating expression of ISG15-specific protease UBP43 in conjunction with lipopolysaccharide REFERENCE 9 (residues 1 to 419) AUTHORS Sato M, Suemori H, Hata N, Asagiri M, Ogasawara K, Nakao K, Nakaya T, Katsuki M, Noguchi S, Tanaka N and Taniguchi T. TITLE Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction JOURNAL Immunity 13 (4), 539-548 (2000) PUBMED 11070172 REFERENCE 10 (residues 1 to 419) AUTHORS Bellingham J, Gregory-Evans K and Gregory-Evans CY. TITLE Mapping of human interferon regulatory factor 3 (IRF3) to chromosome 19q13.3-13.4 by an intragenic polymorphic marker JOURNAL Ann Hum Genet 62 (Pt 3), 231-234 (1998) PUBMED 9803267 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY089035.1, AK013944.1, AK151750.1 and BC050882.1. Transcript Variant: This variant (1) represents the protein-coding transcript. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC050882.1, AK013944.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..419 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 29.07 cM" Protein 1..419 /product="interferon regulatory factor 3" /calculated_mol_wt=46721 Site 3 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Region 7..110 /region_name="IRF" /note="Interferon regulatory factor transcription factor; pfam00605" /db_xref="CDD:425772" Site 14 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site order(40,79,81..82,85) /site_type="other" /note="DNA sequence recognition sites [nucleotide binding]" /db_xref="CDD:238051" Site 75 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site order(84..85,87,90) /site_type="metal-binding" /db_xref="CDD:238051" Site 97 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 121..122 /site_type="cleavage" /note="Cleavage, by CASP3. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 123 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 125..126 /site_type="cleavage" /note="Cleavage, by CASP3. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 135 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70671.1)" Region 140..419 /region_name="Mediates interaction with ZDHHC11. /evidence=ECO:0000250|UniProtKB:Q14653" /note="propagated from UniProtKB/Swiss-Prot (P70671.1)" Region 194..353 /region_name="Interaction with HERC5. /evidence=ECO:0000250|UniProtKB:Q14653" /note="propagated from UniProtKB/Swiss-Prot (P70671.1)" Region 196..373 /region_name="IRF-3" /note="Interferon-regulatory factor 3; pfam10401" /db_xref="CDD:431258" Site 230 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 237 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 246 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 378 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 379 /site_type="phosphorylation" /note="Phosphoserine, by TBK1. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 388 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 390 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" Site 396 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q14653; propagated from UniProtKB/Swiss-Prot (P70671.1)" CDS 1..419 /gene="Irf3" /gene_synonym="C920001K05Rik; IRF-3" /coded_by="NM_016849.4:270..1529" /db_xref="CCDS:CCDS21224.1" /db_xref="GeneID:54131" /db_xref="MGI:MGI:1859179" ORIGIN 1 metpkprilp wlvsqldlgq legvawldes rtrfripwkh glrqdaqmad fgifqawaea 61 sgaytpgkdk pdvstwkrnf rsalnrkevl rlaadnskdp ydphkvyefv tpgardfvhl 121 gaspdtngks slphsqenlp klfdglilgp lkdegssdla ivsdpsqqlp spnvnnflnp 181 apqenplkql laeeqwefev tafyrgrqvf qqtlfcpggl rlvgstadmt lpwqpvtlpd 241 pegfltdklv keyvgqvlkg lgnglalwqa gqclwaqrlg hshafwalge ellpdsgrgp 301 dgevhkdkdg avfdlrpfva dliafmegsg hsprytlwfc mgemwpqdqp wvkrlvmvkv 361 vptclkelle mareggassl ktvdlhisns qpisltsdqy kaylqdlved mdfqatgni // LOCUS NP_062804 371 aa linear ROD 09-OCT-2023 DEFINITION protein arginine N-methyltransferase 1 isoform 1 [Mus musculus]. ACCESSION NP_062804 VERSION NP_062804.1 DBSOURCE REFSEQ: accession NM_019830.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 371) AUTHORS Ye H, Cao L, Jackson-Weaver O, Zheng L and Gou Y. TITLE PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling JOURNAL Bone 176, 116887 (2023) PUBMED 37634683 REMARK GeneRIF: PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling. REFERENCE 2 (residues 1 to 371) AUTHORS Zhu Y, Wang L, Liu R, Ding X, Yin S, Chen Y, Zhu C, Wang Z and Li W. TITLE Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways JOURNAL FEBS Open Bio 13 (10), 1859-1873 (2023) PUBMED 37525933 REMARK GeneRIF: Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways. REFERENCE 3 (residues 1 to 371) AUTHORS Litzler LC, Zahn A, Dionne KL, Sprumont A, Ferreira SR, Slattery MRF, Methot SP, Patenaude AM, Hebert S, Kabir N, Subramani PG, Jung S, Richard S, Kleinman CL and Di Noia JM. TITLE Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice JOURNAL J Exp Med 220 (9) (2023) PUBMED 37310381 REMARK GeneRIF: Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice. REFERENCE 4 (residues 1 to 371) AUTHORS Li Q, Jiao J, Heng Y, Lu Q, Zheng Y, Li H, Cai J, Mei M and Bao S. TITLE Prmt5 promotes ciliated cell specification of airway epithelial progenitors via transcriptional inhibition of Tp63 JOURNAL J Biol Chem 299 (8), 104964 (2023) PUBMED 37364687 REFERENCE 5 (residues 1 to 371) AUTHORS Liu J, Bu X, Chu C, Dai X, Asara JM, Sicinski P, Freeman GJ and Wei W. TITLE PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity JOURNAL Nat Commun 14 (1), 2806 (2023) PUBMED 37193698 REMARK GeneRIF: PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 371) AUTHORS Cimato TR, Tang J, Xu Y, Guarnaccia C, Herschman HR, Pongor S and Aletta JM. TITLE Nerve growth factor-mediated increases in protein methylation occur predominantly at type I arginine methylation sites and involve protein arginine methyltransferase 1 JOURNAL J Neurosci Res 67 (4), 435-442 (2002) PUBMED 11835310 REMARK GeneRIF: Type I protein arginine methyltransferase (PRMT) activity produces asymmetric dimethylation of the terminal guanidinonitrogen of arginines in substrate proteins, particularly glycine and arginine-rich (GAR) segments of proteins REFERENCE 7 (residues 1 to 371) AUTHORS Pawlak MR, Scherer CA, Chen J, Roshon MJ and Ruley HE. TITLE Arginine N-methyltransferase 1 is required for early postimplantation mouse development, but cells deficient in the enzyme are viable JOURNAL Mol Cell Biol 20 (13), 4859-4869 (2000) PUBMED 10848611 REFERENCE 8 (residues 1 to 371) AUTHORS Brady KP, Rowe LB, Her H, Stevens TJ, Eppig J, Sussman DJ, Sikela J and Beier DR. TITLE Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis JOURNAL Genome Res 7 (11), 1085-1093 (1997) PUBMED 9371744 REFERENCE 9 (residues 1 to 371) AUTHORS Scherer CA, Chen J, Nachabeh A, Hopkins N and Ruley HE. TITLE Transcriptional specificity of the pluripotent embryonic stem cell JOURNAL Cell Growth Differ 7 (10), 1393-1401 (1996) PUBMED 8891343 REFERENCE 10 (residues 1 to 371) AUTHORS Lin WJ, Gary JD, Yang MC, Clarke S and Herschman HR. TITLE The mammalian immediate-early TIS21 protein and the leukemia-associated BTG1 protein interact with a protein-arginine N-methyltransferase JOURNAL J Biol Chem 271 (25), 15034-15044 (1996) PUBMED 8663146 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU524421.1, AF232716.1, BY760714.1 and AI846916.1. Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF232716.1, SRR7652917.572245.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..371 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 29.07 cM" Protein 1..371 /product="protein arginine N-methyltransferase 1 isoform 1" /EC_number="2.1.1.319" /note="arginine N-methyltransferase 1; histone-arginine N-methyltransferase PRMT1; heterogeneous nuclear ribonucleoproteins methyltransferase-like 2" /calculated_mol_wt=42305 Region 92..192 /region_name="AdoMet_MTases" /note="S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy); cd02440" /db_xref="CDD:100107" Site order(95..101,118,122,144..146,163) /site_type="other" /note="S-adenosylmethionine binding site [chemical binding]" /db_xref="CDD:100107" Site 228 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000269|PubMed:28883095; propagated from UniProtKB/Swiss-Prot (Q9JIF0.1)" Site 233 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000269|PubMed:28883095; propagated from UniProtKB/Swiss-Prot (Q9JIF0.1)" Site 304 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q99873; propagated from UniProtKB/Swiss-Prot (Q9JIF0.1)" Site 307 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q99873; propagated from UniProtKB/Swiss-Prot (Q9JIF0.1)" CDS 1..371 /gene="Prmt1" /gene_synonym="6720434D09Rik; Hrmt1l2; Mrmt1" /coded_by="NM_019830.3:103..1218" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS21222.1" /db_xref="GeneID:15469" /db_xref="MGI:MGI:107846" ORIGIN 1 maaaeaanci menfvatlan gmslqpplee vscgqaesse kpnaedmtsk dyyfdsyahf 61 giheemlkde vrtltyrnsm fhnrhlfkdk vvldvgsgtg ilcmfaakag arkvigiecs 121 sisdyavkiv kankldhvvt iikgkveeve lpvekvdiii sewmgyclfy esmlntvlha 181 rdkwlapdgl ifpdratlyv taiedrqykd ykihwwenvy gfdmscikdv aikeplvdvv 241 dpkqlvtnac likevdiytv kvedltftsp fclqvkrndy vhalvayfni eftrchkrtg 301 fstspespyt hwkqtvfyme dyltvktgee ifgtigmrpn aknnrdldft idldfkgqlc 361 elscstdyrm r // LOCUS NP_001129545 923 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform d [Mus musculus]. ACCESSION NP_001129545 VERSION NP_001129545.1 DBSOURCE REFSEQ: accession NM_001136073.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 923) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 923) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 923) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 923) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 923) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 923) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 923) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 923) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 923) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 923) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887582.1 and BP757417.1. Transcript Variant: This variant (4, also known as IB-IIL-Xa) contains an additional exon that results in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887582.1, SRR10223971.3526.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..923 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..923 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform d" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=99511 Region 400..574 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(423,426,428..429,431..433,481,522,524..525,539..540, 542,573) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 579..679 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(603,667) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..923 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001136073.2:175..2946" /note="isoform d is encoded by transcript variant 4" /db_xref="CCDS:CCDS50803.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mdvpepqpdp dggdgpghep ggspqdeldf silfdydyln pieeepiahk aisspsglay 61 pddvldyglk pcnplaslsg eppgrfgepd sigfqnflsp vkpagasgps prieitpshe 121 lmqaggalrg rdaglspeqp alalagvaas prftlpvpgy egyreplcls passgssasf 181 isdtfspyts pcvspnnagp ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv 241 prpasrsssp gakrrhscae alvaplpaas pqrsrspspq psphvalqdd sipagyppta 301 gsavlmdaln tlatdspcgi pskiwktspd ptpvstapsk aglarhiypt veflgpceqe 361 errnsapesi llvpptwpkq lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp 421 hhrahyeteg srgavkaptg ghpvvqlhgy menkplglqi figtaderil kphafyqvhr 481 itgktvttts yekivgntkv leiplepknn mratidcagi lklrnadiel rkgetdigrk 541 ntrvrlvfrv hvpepsgriv slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil 601 tgqnftaesk vvfmekttdg qqiwemeatv dkdksqpnml fveipeyrnk hirvpvkvnf 661 yvingkrkrs qpqhftyhpv paiktepsde yepslicspa hgglgsqpyy pqhpmlaesp 721 sclvatmapc qqfrsglssp daryqqqspa aalyqrsksl spgllgyqqp sllaaplgla 781 dahrsvlvha gsqgqgqgst lphtssasqq aspvihyspt nqqlrggghq efqhimycen 841 fgpssarpgp ppinqgqrls pgayptviqq qtapsqraak ngpsdqkeal ptgvtvkqeq 901 nldqtyldde lidthlswiq nil // LOCUS NP_001334238 290 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor ligand superfamily member 13B isoform 2 [Mus musculus]. ACCESSION NP_001334238 XP_006508837 VERSION NP_001334238.1 DBSOURCE REFSEQ: accession NM_001347309.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 290) AUTHORS Doll JR, Moreno-Fernandez ME, Stankiewicz TE, Wayland JL, Wilburn A, Weinhaus B, Chougnet CA, Giordano D, Cappelletti M, Presicce P, Kallapur SG, Salomonis N, Tilburgs T and Divanovic S. TITLE BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth JOURNAL Cell Rep 42 (4), 112352 (2023) PUBMED 37027297 REMARK GeneRIF: BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth. REFERENCE 2 (residues 1 to 290) AUTHORS Giordano D, Kuley R, Draves KE, Elkon KB, Giltiay NV and Clark EA. TITLE B cell-activating factor (BAFF) from dendritic cells, monocytes and neutrophils is required for B cell maturation and autoantibody production in SLE-like autoimmune disease JOURNAL Front Immunol 14, 1050528 (2023) PUBMED 36923413 REMARK GeneRIF: B cell-activating factor (BAFF) from dendritic cells, monocytes and neutrophils is required for B cell maturation and autoantibody production in SLE-like autoimmune disease. Publication Status: Online-Only REFERENCE 3 (residues 1 to 290) AUTHORS Kanemitsu-Okada K, Abe M, Nakamura Y, Miyake T, Watanabe T, Yoshida O, Koizumi Y, Hirooka M, Tokumoto Y, Matsuura B, Koizumi M and Hiasa Y. TITLE Role of B Cell-Activating Factor in Fibrosis Progression in a Murine Model of Non-Alcoholic Steatohepatitis JOURNAL Int J Mol Sci 24 (3), 2509 (2023) PUBMED 36768854 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 290) AUTHORS Stohl W, Yu N and Wu Y. TITLE B Cell and T Cell Dissimilarities in BAFF-Deficient versus BR3-Deficient C57BL/6 Mice JOURNAL J Immunol 209 (11), 2133-2140 (2022) PUBMED 36426969 REMARK GeneRIF: B Cell and T Cell Dissimilarities in BAFF-Deficient versus BR3-Deficient C57BL/6 Mice. REFERENCE 5 (residues 1 to 290) AUTHORS Liu W, Stachura P, Xu HC, Varaljai R, Shinde P, Ganesh NU, Mack M, Van Lierop A, Huang A, Sundaram B, Lang KS, Picard D, Fischer U, Remke M, Homey B, Roesch A, Haussinger D, Lang PA, Borkhardt A and Pandyra AA. TITLE BAFF Attenuates Immunosuppressive Monocytes in the Melanoma Tumor Microenvironment JOURNAL Cancer Res 82 (2), 264-277 (2022) PUBMED 34810198 REMARK GeneRIF: BAFF Attenuates Immunosuppressive Monocytes in the Melanoma Tumor Microenvironment. REFERENCE 6 (residues 1 to 290) AUTHORS Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G and Theill LE. TITLE APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity JOURNAL Nat Immunol 1 (3), 252-256 (2000) PUBMED 10973284 REFERENCE 7 (residues 1 to 290) AUTHORS Xia XZ, Treanor J, Senaldi G, Khare SD, Boone T, Kelley M, Theill LE, Colombero A, Solovyev I, Lee F, McCabe S, Elliott R, Miner K, Hawkins N, Guo J, Stolina M, Yu G, Wang J, Delaney J, Meng SY, Boyle WJ and Hsu H. TITLE TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation JOURNAL J Exp Med 192 (1), 137-143 (2000) PUBMED 10880535 REFERENCE 8 (residues 1 to 290) AUTHORS Gross JA, Johnston J, Mudri S, Enselman R, Dillon SR, Madden K, Xu W, Parrish-Novak J, Foster D, Lofton-Day C, Moore M, Littau A, Grossman A, Haugen H, Foley K, Blumberg H, Harrison K, Kindsvogel W and Clegg CH. TITLE TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease JOURNAL Nature 404 (6781), 995-999 (2000) PUBMED 10801128 REFERENCE 9 (residues 1 to 290) AUTHORS Mackay F, Woodcock SA, Lawton P, Ambrose C, Baetscher M, Schneider P, Tschopp J and Browning JL. TITLE Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations JOURNAL J Exp Med 190 (11), 1697-1710 (1999) PUBMED 10587360 REFERENCE 10 (residues 1 to 290) AUTHORS Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha-Orbea H, Valmori D, Romero P, Werner-Favre C, Zubler RH, Browning JL and Tschopp J. TITLE BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth JOURNAL J Exp Med 189 (11), 1747-1756 (1999) PUBMED 10359578 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK079180.1, BC106840.1 and AC138397.4. On Nov 18, 2016 this sequence version replaced XP_006508837.1. Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC106840.1, AY290823.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN01164133 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..290 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 4.55 cM" Protein 1..290 /product="tumor necrosis factor ligand superfamily member 13B isoform 2" /note="b cell-activating factor; tumor necrosis factor ligand 7a" /calculated_mol_wt=32035 Region 164..287 /region_name="TNF" /note="Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal...; cd00184" /db_xref="CDD:238108" Site order(174,176,214,221,230) /site_type="active" /note="receptor binding sites [active]" /db_xref="CDD:238108" Site order(199,201,251,256,283,287) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:238108" CDS 1..290 /gene="Tnfsf13b" /gene_synonym="BAFF; BLyS; D8Ertd387e; TALL-1; TALL1; THANK; TNFSF20; Tnlg7a; zTNF4" /coded_by="NM_001347309.1:377..1249" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS85498.1" /db_xref="GeneID:24099" /db_xref="MGI:MGI:1344376" ORIGIN 1 mdesaktlpp pclcfcsekg edmkvgydpi tpqkeegawf gicrdgrlla atlllallss 61 sftamslyql aalqadlmnl rmelqsyrgs atpaaagape ltagvklltp aaprphnssr 121 ghrnrrafqg peeteqdvdl sappapclpg crhsqhddng mnlrnrtytf vpwllsfkrg 181 naleekenki vvrqtgyffi ysqvlytdpi famghviqrk kvhvfgdels lvtlfrciqn 241 mpktlpnnsc ysagiarlee gdeiqlaipr enaqisrngd dtffgalkll // LOCUS NP_001028603 1054 aa linear ROD 09-OCT-2023 DEFINITION NACHT, LRR and PYD domains-containing protein 12 [Mus musculus]. ACCESSION NP_001028603 XP_001476938 XP_909205 VERSION NP_001028603.1 DBSOURCE REFSEQ: accession NM_001033431.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1054) AUTHORS Khan S, Kwak YT, Peng L, Hu S, Cantarel BL, Lewis CM, Gao Y, Mani RS, Kanneganti TD and Zaki H. TITLE NLRP12 downregulates the Wnt/beta-catenin pathway via interaction with STK38 to suppress colorectal cancer JOURNAL J Clin Invest 133 (19), e166295 (2023) PUBMED 37581937 REMARK GeneRIF: NLRP12 downregulates the Wnt/beta-catenin pathway via interaction with STK38 to suppress colorectal cancer. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1054) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 1054) AUTHORS Abdelhamid L, Mao J, Cabana-Puig X, Zhu J, Swartwout BK, Edwards MR, Testerman JC, Michaelis JS, Allen IC, Ahmed SA and Luo XM. TITLE Nlrp12 deficiency alters gut microbiota and ameliorates Faslpr -mediated systemic autoimmunity in male mice JOURNAL Front Immunol 14, 1120958 (2023) PUBMED 36969209 REMARK GeneRIF: Nlrp12 deficiency alters gut microbiota and ameliorates Fas[lpr] -mediated systemic autoimmunity in male mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1054) AUTHORS Tsao YP, Tseng FY, Chao CW, Chen MH, Yeh YC, Abdulkareem BO, Chen SY, Chuang WT, Chang PC, Chen IC, Wang PH, Wu CS, Tsai CY and Chen ST. TITLE NLRP12 is an innate immune checkpoint for repressing IFN signatures and attenuating lupus nephritis progression JOURNAL J Clin Invest 133 (3), e157272 (2023) PUBMED 36719379 REMARK GeneRIF: NLRP12 is an innate immune checkpoint for repressing IFN signatures and attenuating lupus nephritis progression. Erratum:[J Clin Invest. 2023 May 1;133(9):. PMID: 37115700] Publication Status: Online-Only REFERENCE 5 (residues 1 to 1054) AUTHORS Lee EJ, Napier RJ, Vance EE, Lashley SJ, Truax AD, Ting JP and Rosenzweig HL. TITLE The innate immune receptor Nlrp12 suppresses autoimmunity to the retina JOURNAL J Neuroinflammation 19 (1), 69 (2022) PUBMED 35313917 REMARK GeneRIF: The innate immune receptor Nlrp12 suppresses autoimmunity to the retina. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1054) AUTHORS Allen IC, Lich JD, Arthur JC, Jania CM, Roberts RA, Callaway JB, Tilley SL and Ting JP. TITLE Characterization of NLRP12 during the development of allergic airway disease in mice JOURNAL PLoS One 7 (1), e30612 (2012) PUBMED 22291998 REMARK GeneRIF: NLRP12 does not play a vital role in regulating Th2 driven airway inflammation using common model systems that are physiologically relevant to human disease. REFERENCE 7 (residues 1 to 1054) AUTHORS Zaki MH, Vogel P, Malireddi RK, Body-Malapel M, Anand PK, Bertin J, Green DR, Lamkanfi M and Kanneganti TD. TITLE The NOD-like receptor NLRP12 attenuates colon inflammation and tumorigenesis JOURNAL Cancer Cell 20 (5), 649-660 (2011) PUBMED 22094258 REMARK GeneRIF: NLRP12 has a critical role in maintaining intestinal homeostasis and providing protection against colorectal tumorigenesis. REFERENCE 8 (residues 1 to 1054) AUTHORS Elinav E, Strowig T, Kau AL, Henao-Mejia J, Thaiss CA, Booth CJ, Peaper DR, Bertin J, Eisenbarth SC, Gordon JI and Flavell RA. TITLE NLRP6 inflammasome regulates colonic microbial ecology and risk for colitis JOURNAL Cell 145 (5), 745-757 (2011) PUBMED 21565393 REFERENCE 9 (residues 1 to 1054) AUTHORS Arthur JC, Lich JD, Ye Z, Allen IC, Gris D, Wilson JE, Schneider M, Roney KE, O'Connor BP, Moore CB, Morrison A, Sutterwala FS, Bertin J, Koller BH, Liu Z and Ting JP. TITLE Cutting edge: NLRP12 controls dendritic and myeloid cell migration to affect contact hypersensitivity JOURNAL J Immunol 185 (8), 4515-4519 (2010) PUBMED 20861349 REMARK GeneRIF: NLRP12 is important in maintaining neutrophils and peripheral DCs in a migration-competent state REFERENCE 10 (residues 1 to 1054) AUTHORS Hornung V, Ablasser A, Charrel-Dennis M, Bauernfeind F, Horvath G, Caffrey DR, Latz E and Fitzgerald KA. TITLE AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC JOURNAL Nature 458 (7237), 514-518 (2009) PUBMED 19158675 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC245272.2. On or before Sep 10, 2009 this sequence version replaced XP_909205.3, XP_001476938.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1054 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 1.88 cM" Protein 1..1054 /product="NACHT, LRR and PYD domains-containing protein 12" /note="PYRIN-containing APAF1-like protein 7" /calculated_mol_wt=119188 Region 12..87 /region_name="PYRIN" /note="PAAD/DAPIN/Pyrin domain; pfam02758" /db_xref="CDD:426964" Region 129..200 /region_name="FISNA" /note="Fish-specific NACHT associated domain; pfam14484" /db_xref="CDD:433982" Region 211..380 /region_name="NACHT" /note="NACHT domain; pfam05729" /db_xref="CDD:428606" Region 459..512 /region_name="NOD2_WH" /note="NOD2 winged helix domain; pfam17779" /db_xref="CDD:436037" Region 514..621 /region_name="NLRC4_HD2" /note="NLRC4 helical domain HD2; pfam17776" /db_xref="CDD:436035" Region 708..736 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 737..1028 /region_name="LRR_RI" /note="Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond...; cd00116" /db_xref="CDD:238064" Site order(737,740,742,745,747,765,768,770,773,775,794,797,799, 802,804,822,825,827,830,832,851,854,856,859,861,879,882, 884,887,889,908,911,913,916,918,936,939,941,944,946,965, 968,970,973,975,993,996,998,1001,1003,1022,1025,1027) /site_type="active" /note="Leucine-rich repeats [active]" /db_xref="CDD:238064" Region 737..764 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site order(743..744,801,858,886,943,969,971,997,1026) /site_type="other" /note="Substrate binding site [chemical binding]" /db_xref="CDD:238064" Region 765..793 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 794..821 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 821..841 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 822..850 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 850..871 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 851..878 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 878..899 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 879..907 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 907..928 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 908..935 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 935..955 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 964..985 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 965..985 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 992..1013 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" Region 1021..1042 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (E9Q5R7.1)" CDS 1..1054 /gene="Nlrp12" /gene_synonym="monarch-1; Nalp12; PYPAF7" /coded_by="NM_001033431.1:202..3366" /db_xref="CCDS:CCDS51963.1" /db_xref="GeneID:378425" /db_xref="MGI:MGI:2676630" ORIGIN 1 mlpstardgl yrlstyleel eagelkkfkl flgiaedlsq dkipwgrmek agplemaqlm 61 vahmgtreaw llalstfqri hrkdlwergq gedlvrvtpn nglclfesqs acpldvspna 121 prkdlqttyk dyvrrkfqlm edrnarlgec vnlsnrytrl llvkehsnpi wtqqkfvdve 181 wersrtrrhq tspiqmetlf epdeerpepp htvvlqgaag mgksmlahkv mldwadgrlf 241 qgrfdyvfyi screlnrsht qcsvqdliss cwpergisle dlmqapdrll fiidgfdklh 301 psfhdaqgpw clcweekqpt evllgslirr lllpqvslli ttrpcalekl hgllehprhv 361 eilgfseear keyfyryfhn tgqasrvlsf lmdyeplftm cfvpmvswvv ctclkqqles 421 gellrqtprt ttavymfyll slmqpkpgtp tfkvpanqrg lvslaaeglw nqkilfdeqd 481 lgkhgldgad vstflnvnif qkgikcekfy sfihlsfqef faamycalng reavrralae 541 ygfsernfla ltvhflfgll neemrcyler nlgwsispqv keevlawiqn kagsegstlq 601 hgslellscl yevqeedfiq qalshfqvvv vrsistkmeh mvcsfcaryc rstevlhlhg 661 saystgmedd ppepsgvqtq stylqernml pdvysaylsa avctnsnlie lalyrnalgs 721 qgvrllcqgl rhascklqnl rlkrcqisgs acqdlaaavi anrnlirldl sdnsigvpgl 781 ellceglqhp rcrlqmiqlr kclleaaagr slasvlsnns ylveldltgn pledsglkll 841 cqglrhpvcr lrtlwlkich lgqascedla stlkmnqsll eldlglndlg dsgvlllceg 901 lshpdcklqt lrlgicrlgs vacvgiasvl qvntclqeld lsfndlgdrg lqllgeglrh 961 qtcrlqklwl dncgltskac edlssilgis qtlhelyltn nalgdtgvcl lckrlrhpgc 1021 klrvlwlfgm dlnkkthrrm aalrvtkpyl digc // LOCUS NP_001103674 509 aa linear ROD 09-OCT-2023 DEFINITION activin receptor type-1 precursor [Mus musculus]. ACCESSION NP_001103674 VERSION NP_001103674.1 DBSOURCE REFSEQ: accession NM_001110204.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 509) AUTHORS Yang YS, Lin C, Ma H, Xie J, Kaplan FS, Gao G and Shim JH. TITLE AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva JOURNAL Biomolecules 13 (9), 1364 (2023) PUBMED 37759764 REMARK GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only REFERENCE 2 (residues 1 to 509) AUTHORS Yamaguchi H, Shen J, Little DR, Li M, Sozen S, Suzuki K, Mishina Y and Komatsu Y. TITLE Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation JOURNAL Biochem Biophys Res Commun 629, 101-105 (2022) PUBMED 36116371 REMARK GeneRIF: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation. REFERENCE 3 (residues 1 to 509) AUTHORS Yamamoto M, Stoessel SJ, Yamamoto S and Goldhamer DJ. TITLE Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification JOURNAL J Bone Miner Res 37 (11), 2077-2093 (2022) PUBMED 35637634 REMARK GeneRIF: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification. REFERENCE 4 (residues 1 to 509) AUTHORS Lees-Shepard JB, Stoessel SJ, Chandler JT, Bouchard K, Bento P, Apuzzo LN, Devarakonda PM, Hunter JW and Goldhamer DJ. TITLE An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice JOURNAL J Clin Invest 132 (12) (2022) PUBMED 35503416 REFERENCE 5 (residues 1 to 509) AUTHORS Chen HY, Hu Y, Xu XB, Zhou YA, Li NS, He C, Xie C, Lu NH and Zhu Y. TITLE Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2 JOURNAL Helicobacter 26 (6), e12849 (2021) PUBMED 34490965 REMARK GeneRIF: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2. REFERENCE 6 (residues 1 to 509) AUTHORS Schmitt J, Mielke R and Schrewe H. TITLE Genomic organization of a mouse type I activin receptor JOURNAL Biochem Biophys Res Commun 213 (1), 211-217 (1995) PUBMED 7639738 REFERENCE 7 (residues 1 to 509) AUTHORS Verschueren K, Dewulf N, Goumans MJ, Lonnoy O, Feijen A, Grimsby S, Vandi Spiegle K, ten Dijke P, Moren A, Vanscheeuwijck P, Heldin CH, Miyazono K, Mummery C, Van Den Eijnden-Van Raaij J and Huylebroeck D. TITLE Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis JOURNAL Mech Dev 52 (1), 109-123 (1995) PUBMED 7577669 REFERENCE 8 (residues 1 to 509) AUTHORS Roelen BA, Lin HY, Knezevic V, Freund E and Mummery CL. TITLE Expression of TGF-beta s and their receptors during implantation and organogenesis of the mouse embryo JOURNAL Dev Biol 166 (2), 716-728 (1994) PUBMED 7813789 REFERENCE 9 (residues 1 to 509) AUTHORS Nakamura T, Sugino K, Kurosawa N, Sawai M, Takio K, Eto Y, Iwashita S, Muramatsu M, Titani K and Sugino H. TITLE Isolation and characterization of activin receptor from mouse embryonal carcinoma cells. Identification of its serine/threonine/tyrosine protein kinase activity JOURNAL J Biol Chem 267 (26), 18924-18928 (1992) PUBMED 1326537 REFERENCE 10 (residues 1 to 509) AUTHORS Mathews LS and Vale WW. TITLE Expression cloning of an activin receptor, a predicted transmembrane serine kinase JOURNAL Cell 65 (6), 973-982 (1991) PUBMED 1646080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK150014.1, AK053428.1, BC058718.1 and BQ030975.1. Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK053428.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..509 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 33.05 cM" Protein 1..509 /product="activin receptor type-1 precursor" /EC_number="2.7.11.30" /note="activin receptor type-1; TSR-I; TSK-7L; activin receptor type I; TGF-B superfamily receptor type I; serine/threonine-protein kinase receptor R1" /calculated_mol_wt=55077 sig_peptide 1..20 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=2167 mat_peptide 21..509 /product="Activin receptor type-1. /id=PRO_0000024395" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=55077 Region 33..103 /region_name="Activin_recp" /note="Activin types I and II receptor domain; pfam01064" /db_xref="CDD:426025" Site 102 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P37172.2)" Site 124..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" Region 179..206 /region_name="TGF_beta_GS" /note="Transforming growth factor beta type I GS-motif; pfam08515" /db_xref="CDD:430045" Region 202..499 /region_name="STKc_ACVR1_ALK1" /note="Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1; cd14142" /db_xref="CDD:271044" Site order(202..203,206..207,245..246,249..250,253..254,268, 270) /site_type="other" /note="FKBP12 binding site [polypeptide binding]" /db_xref="CDD:271044" Site order(214..218,222,233,235,263,283..286,290,292,336,338, 340..341,343,354,357,377..380) /site_type="active" /db_xref="CDD:271044" Site order(214..220,222,233,235,283..284,286,290,340..341,343, 354) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271044" Site order(218,290,292,336,338,340,357,377..380) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271044" Site 353..380 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271044" Site 501 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q04771; propagated from UniProtKB/Swiss-Prot (P37172.2)" CDS 1..509 /gene="Acvr1" /gene_synonym="ActR-I; ActRIA; Acvr; Acvr1a; Acvrlk2; Alk-2; ALK2; Alk8; D330013D15Rik; SKR1; Tsk7L" /coded_by="NM_001110204.1:668..2197" /db_xref="CCDS:CCDS16050.1" /db_xref="GeneID:11477" /db_xref="MGI:MGI:87911" ORIGIN 1 mvdgvmilpv lmmmafpsps vedekpkvnq klymcvcegl scgnedhceg qqcfsslsin 61 dgfhvyqkgc fqvyeqgkmt cktppspgqa veccqgdwcn rnitaqlptk gksfpgtqnf 121 hlevgliils vvfavcllac ilgvalrkfk rrnqerlnpr dveygtiegl ittnvgdstl 181 aelldhscts gsgsglpflv qrtvarqitl lecvgkgryg evwrgswqge nvavkifssr 241 dekswfrete lyntvmlrhe nilgfiasdm tsrhsstqlw lithyhemgs lydylqlttl 301 dtvsclrivl siasglahlh ieifgtqgks aiahrdlksk nilvkkngqc ciadlglavm 361 hsqstnqldv gnnprvgtkr ymapevldet iqvdcfdsyk rvdiwafglv lwevarrmvs 421 ngivedykpp fydvvpndps fedmrkvvcv dqqrpnipnr wfsdptltsl aklmkecwyq 481 npsarltalr ikktltkidn sldklktdc // LOCUS NP_001263342 2176 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform g precursor [Mus musculus]. ACCESSION NP_001263342 VERSION NP_001263342.1 DBSOURCE REFSEQ: accession NM_001276413.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2176) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2176) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2176) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2176) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2176) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2176) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2176) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2176) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2176) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2176) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, AK147701.1, AK171339.1 and AC124821.5. Transcript Variant: This variant (7) lacks two in-frame exons and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (g) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK147701.1, BC145271.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2176 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2176 /product="fibronectin isoform g precursor" /calculated_mol_wt=236943 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1709..1710,1712..1713) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1724..1803 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1800..1801,1803..1804) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1813..1893 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1909..1964 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1995..2039 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2040..2081 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2083..2122 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2176 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276413.1:253..6783" /note="isoform g precursor is encoded by transcript variant 7" /db_xref="CCDS:CCDS78607.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtt ipaptnlkfs qvtptsftaq wiapsvqltg yrvrvnpkek tgpmkeinls 1681 pdsssvivsg lmvatkyevs vyalkdtlts rpaqgvittl envspprrar vtdatettit 1741 iswrtkteti tgfqvdaipa ngqtpvqrsi spdvrsytit glqpgtdyki hlytlndnar 1801 sspviidast aidapsnlrf ltttpnsllv swqaprarit gyiikyekpg spprevvprp 1861 rpgvteatit glepgteyti yvialknnqk sepligrkkt gqealsqtti swtpfqesse 1921 yiiscqpvgt deeplqfqvp gtstsatltg ltrgvtynii vealqnqrrh kvreevvtvg 1981 navseglnqp tddscfdpyt vshyaigeew erlsdagfkl tcqclgfgsg hfrcdsskwc 2041 hdngvnykig ekwdrqgeng qrmsctclgn gkgefkcdph eatcyddgkt yhvgeqwqke 2101 ylgaicsctc fggqrgwrcd ncrrpgaaep spdgttghty nqytqrynqr tntnvncpie 2161 cfmpldvqad rddsre // LOCUS NP_001351354 448 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 6 [Mus musculus]. ACCESSION NP_001351354 XP_017168128 VERSION NP_001351354.1 DBSOURCE REFSEQ: accession NM_001364425.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 448) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 448) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 448) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 448) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 448) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 448) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 448) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 448) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 448) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 448) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. On Jun 16, 2018 this sequence version replaced XP_017168128.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660825.169274.1, SRR14995048.255226.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..448 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..448 /product="pro-neuregulin-1, membrane-bound isoform isoform 6" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=50012 Region 75..430 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..448 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364425.1:1327..2673" /note="isoform 6 is encoded by transcript variant 6" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 mvkdlsnpsr ylckcpneft gdrcqnyvma sfykhlgief meaeelyqkr vltitgicia 61 llvvgimcvv aycktkkqrq klhdrlrqsl rsernnmvni angphhpnpp penvqlvnqy 121 vsknvisseh iverevetsf stshytstah hsttvtqtps hswsnghtes iiseshsvim 181 mssvensrhs spaggprgrl hglggprecn sflrharetp dsyrdsphse ryvsamttpa 241 rmspvdfhtp sspksppsem sppvssmtvs mpsvavspfv eeerplllvt pprlrekkyd 301 hhpqqlnsfh hnpahqstsl ppsplrived eeyettqeye piqepikkvt nsrrakrtkp 361 nghianrlem dsnpssvssn sesetederv gedtpflgiq nplaasleva pafrlaesrt 421 npagrfstqe elqarlssvi anqdpiav // LOCUS NP_001397700 526 aa linear ROD 09-OCT-2023 DEFINITION amino acid transporter heavy chain SLC3A2 isoform b [Mus musculus]. ACCESSION NP_001397700 XP_036017348 VERSION NP_001397700.1 DBSOURCE REFSEQ: accession NM_001410771.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 526) AUTHORS Xiang P, Chen Q, Chen L, Lei J, Yuan Z, Hu H, Lu Y, Wang X, Wang T, Yu R, Zhang W, Zhang J, Yu C and Ma L. TITLE Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE-/-mice JOURNAL Theranostics 13 (14), 4993-5016 (2023) PUBMED 37771765 REMARK GeneRIF: Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE[-/-]mice. Publication Status: Online-Only REFERENCE 2 (residues 1 to 526) AUTHORS Puris E, Saveleva L, de Sousa Maciel I, Kanninen KM, Auriola S and Fricker G. TITLE Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease JOURNAL Mol Neurobiol 60 (2), 732-748 (2023) PUBMED 36367657 REMARK GeneRIF: Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease. REFERENCE 3 (residues 1 to 526) AUTHORS Eom J, Choi J, Suh SS and Seo JB. TITLE SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation JOURNAL Mol Cells 45 (12), 963-975 (2022) PUBMED 36572564 REMARK GeneRIF: SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation. REFERENCE 4 (residues 1 to 526) AUTHORS Chen Q, Liu L and Ni S. TITLE Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation JOURNAL PeerJ 10, e13757 (2022) PUBMED 35923893 REMARK GeneRIF: Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 526) AUTHORS Salazar-Petres E, Pereira-Carvalho D, Lopez-Tello J and Sferruzzi-Perri AN. TITLE Placental structure, function, and mitochondrial phenotype relate to fetal size in each fetal sex in micedagger JOURNAL Biol Reprod 106 (6), 1292-1311 (2022) PUBMED 35293971 REFERENCE 6 (residues 1 to 526) AUTHORS Rochelle JM, Watson ML, Oakey RJ and Seldin MF. TITLE A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus JOURNAL Genomics 14 (1), 26-31 (1992) PUBMED 1358795 REFERENCE 7 (residues 1 to 526) AUTHORS Fowler KJ, Clouston WM, Fournier RE and Evans BA. TITLE The relaxin gene is located on chromosome 19 in the mouse JOURNAL FEBS Lett 292 (1-2), 183-186 (1991) PUBMED 1959604 REFERENCE 8 (residues 1 to 526) AUTHORS Horlick KR, Cheng IC, Wong WT, Wakeland EK and Nick HS. TITLE Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family JOURNAL Genomics 10 (2), 365-374 (1991) PUBMED 1676980 REFERENCE 9 (residues 1 to 526) AUTHORS Chainani M, Sampsell B and Elliott RW. TITLE Localization of the gene for plasma retinol binding protein to the distal half of mouse chromosome 19 JOURNAL Genomics 9 (2), 376-379 (1991) PUBMED 2004789 REFERENCE 10 (residues 1 to 526) AUTHORS Levanon D, Hsieh CL, Francke U, Dawson PA, Ridgway ND, Brown MS and Goldstein JL. TITLE cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19 JOURNAL Genomics 7 (1), 65-74 (1990) PUBMED 1970801 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC025794.9. On Aug 15, 2022 this sequence version replaced XP_036017348.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR14777531.75074.1, ERR2680375.263532.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..526 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 5.44 cM" Protein 1..526 /product="amino acid transporter heavy chain SLC3A2 isoform b" /note="antigen identified by monoclonal antibodies 4F2; 4F2 cell-surface antigen heavy chain; CD98 heavy chain; type II transmembrane protein; CD98 antigen; solute carrier family 3 member 2; amino acid transporter heavy chain SLC3A2" /calculated_mol_wt=58206 Region 1..31 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 2 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 5 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q794F9; propagated from UniProtKB/Swiss-Prot (P10852.1)" Region 40..118 /region_name="SLC3A2_N" /note="Solute carrier family 3 member 2 N-terminus; pfam16028" /db_xref="CDD:435083" Site 58 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 76..99 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P10852.1)" Region 100..429 /region_name="AmyAc_family" /note="Alpha amylase catalytic domain family; cl38930" /db_xref="CDD:453893" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site order(205,240,242,273,332..333) /site_type="active" /db_xref="CDD:200451" Site order(242,273,333) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:200451" Site 259 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 263 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 300 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 301 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 302 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 318 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 385 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 399 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 420 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 509 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" CDS 1..526 /gene="Slc3a2" /gene_synonym="4F2; 4F2HC; Cd98; Ly-10; Ly-m10; Ly10; Mdu1; Mgp-2hc; NACAE" /coded_by="NM_001410771.1:250..1830" /note="isoform b is encoded by transcript variant 3" /db_xref="GeneID:17254" /db_xref="MGI:MGI:96955" ORIGIN 1 msqdtevdmk dvelnelepe kqpmnaadga aageknglvk ikvaedetea gvkftglske 61 ellkvagspg wvrtrwalll lfwlgwlgml agavviivra prcrelpvqr wwhkgalyri 121 gdlqafvgrd aggiaglksh leylstlkvk glvlgpihkn qkdeinetdl kqinptlgsq 181 edfkdllqsa kkksihiild ltpnyqgqna wflpaqadiv atkmkealss wlqdgvdgfq 241 frdvgklmna plylaewqni tknlsedrll iagtessdlq qivnilests dllltssyls 301 nstftgerte slvtrflnat gsqwcswsvs qaglladfip dhllrlyqll lftlpgtpvf 361 sygdelglqg alpgqpakap lmpwnessif hiprpvslnm tvkgqnedpg slltqfrrls 421 dlrgkersll hgdfhalsss pdlfsyirhw dqnerylvvl nfrdsgrsar lgasnlpagi 481 slpasaklll stdsarqsre edtslklenl slnpyeglll qfpfva // LOCUS NP_001405795 224 aa linear ROD 09-OCT-2023 DEFINITION DDRGK domain-containing protein 1 isoform b [Mus musculus]. ACCESSION NP_001405795 VERSION NP_001405795.1 DBSOURCE REFSEQ: accession NM_001418866.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 224) AUTHORS Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A and Zhao J. TITLE Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia JOURNAL Int J Biol Sci 19 (15), 4709-4725 (2023) PUBMED 37781516 REMARK GeneRIF: Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 224) AUTHORS Tandra V, Anderson T, Ayala JD, Weintraub NL, Singh N, Li H and Li J. TITLE Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis JOURNAL Cells 12 (15), 1923 (2023) PUBMED 37566002 REMARK GeneRIF: Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 224) AUTHORS Chen F, Sheng L, Zhou T, Yan L, Loveless R, Li H, Teng Y and Cai Y. TITLE Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling JOURNAL J Exp Clin Cancer Res 42 (1), 110 (2023) PUBMED 37131258 REMARK GeneRIF: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 224) AUTHORS Li H, Yu Z, Niu Z, Cheng Y, Wei Z, Cai Y, Ma F, Hu L, Zhu J and Zhang W. TITLE A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila JOURNAL Cell Mol Life Sci 80 (5), 129 (2023) PUBMED 37086384 REMARK GeneRIF: A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila. Publication Status: Online-Only REFERENCE 5 (residues 1 to 224) AUTHORS Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B and Bae Y. TITLE DDRGK1 is required for the proper development and maintenance of the growth plate cartilage JOURNAL Hum Mol Genet 31 (16), 2820-2830 (2022) PUBMED 35377455 REFERENCE 6 (residues 1 to 224) AUTHORS Yoo HM, Kang SH, Kim JY, Lee JE, Seong MW, Lee SW, Ka SH, Sou YS, Komatsu M, Tanaka K, Lee ST, Noh DY, Baek SH, Jeon YJ and Chung CH. TITLE Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development JOURNAL Mol Cell 56 (2), 261-274 (2014) PUBMED 25219498 REFERENCE 7 (residues 1 to 224) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 REFERENCE 8 (residues 1 to 224) AUTHORS Lemaire K, Moura RF, Granvik M, Igoillo-Esteve M, Hohmeier HE, Hendrickx N, Newgard CB, Waelkens E, Cnop M and Schuit F. TITLE Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis JOURNAL PLoS One 6 (4), e18517 (2011) PUBMED 21494687 REMARK GeneRIF: These data suggest that UFM1-UFBP1 participate in preventing endoplasmic reticulum stress-induced apoptosis in protein secretory cells. Publication Status: Online-Only REFERENCE 9 (residues 1 to 224) AUTHORS Wu J, Lei G, Mei M, Tang Y and Li H. TITLE A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling JOURNAL J Biol Chem 285 (20), 15126-15136 (2010) PUBMED 20228063 REFERENCE 10 (residues 1 to 224) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL772162.4 and AL731707.12. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17253014.711528.1, SRR13422600.222129.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..224 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.24 cM" Protein 1..224 /product="DDRGK domain-containing protein 1 isoform b" /note="DDRGK domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain; UFM1-binding and PCI domain-containing protein 1" /calculated_mol_wt=26041 Region 25..213 /region_name="DDRGK" /note="DDRGK domain; pfam09756" /db_xref="CDD:370664" CDS 1..224 /gene="Ddrgk1" /gene_synonym="1110001I20Rik; 2600009E05Rik; Ufbp1" /coded_by="NM_001418866.1:296..970" /note="isoform b is encoded by transcript variant 3" /db_xref="GeneID:77006" /db_xref="MGI:MGI:1924256" ORIGIN 1 mrmwvkllfq eeegiekpae vhptgkigak klrkleekqa rkaqreaeea ereerkrles 61 qreaewkkee erlrlkeeqk eeeerkaqee qarreheeyl klkeafvvee egvsetmtee 121 qshsfltefi nyikkskvvl ledlafqmgl rtqdainriq dlltegtltg viddrgkfiy 181 itpeelaava nfirqrgrvs itelaqasns liswgqdlpa qasa // LOCUS NP_001278103 702 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform k [Mus musculus]. ACCESSION NP_001278103 XP_006498956 VERSION NP_001278103.1 DBSOURCE REFSEQ: accession NM_001291174.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 702) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 702) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 702) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 702) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 702) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 702) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 702) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 702) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 702) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 702) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887583.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498956.1. Transcript Variant: This variant (11, also known as IA-IIS-Xa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (k) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 11 and 12 encode isoform k. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887583.1, SRR9219381.212114.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..702 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..702 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform k" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=76458 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..458 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(382,446) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..702 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291174.1:203..2311" /note="isoform k is encoded by transcript variant 11" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttdgq qiwemeatvd kdksqpnmlf 421 veipeyrnkh irvpvkvnfy vingkrkrsq pqhftyhpvp aiktepsdey epslicspah 481 gglgsqpyyp qhpmlaesps clvatmapcq qfrsglsspd aryqqqspaa alyqrsksls 541 pgllgyqqps llaaplglad ahrsvlvhag sqgqgqgstl phtssasqqa spvihysptn 601 qqlrggghqe fqhimycenf gpssarpgpp pinqgqrlsp gayptviqqq tapsqraakn 661 gpsdqkealp tgvtvkqeqn ldqtylddel idthlswiqn il // LOCUS NP_032715 971 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor NF-kappa-B p105 subunit isoform 1 [Mus musculus]. ACCESSION NP_032715 VERSION NP_032715.2 DBSOURCE REFSEQ: accession NM_008689.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 971) AUTHORS Lin LL, Song GJ, Zhang H, Yin Y, Xin SM, Ding L and Li Y. TITLE GPR34 Knockdown Relieves Cognitive Deficits and Suppresses Neuroinflammation in Alzheimer's Disease via the ERK/NF-kappaB Signal JOURNAL Neuroscience 528, 129-139 (2023) PUBMED 37557947 REMARK GeneRIF: GPR34 Knockdown Relieves Cognitive Deficits and Suppresses Neuroinflammation in Alzheimer's Disease via the ERK/NF-kappaB Signal. REFERENCE 2 (residues 1 to 971) AUTHORS Harding O, Holzer E, Riley JF, Martens S and Holzbaur ELF. TITLE Damaged mitochondria recruit the effector NEMO to activate NF-kappaB signaling JOURNAL Mol Cell 83 (17), 3188-3204 (2023) PUBMED 37683611 REMARK GeneRIF: Damaged mitochondria recruit the effector NEMO to activate NF-kappaB signaling. REFERENCE 3 (residues 1 to 971) AUTHORS Zhuang L, Zong X, Yang Q, Fan Q and Tao R. TITLE Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization JOURNAL EBioMedicine 95, 104744 (2023) PUBMED 37556943 REMARK GeneRIF: Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization. REFERENCE 4 (residues 1 to 971) AUTHORS Mao W, Wang X, Zhang Y, Zhu H, Dai L and Chen J. TITLE Nuclear factor-kappa B p50-induced microRNA-20a-3p plays a detrimental role in sepsis-induced acute kidney injury JOURNAL Cell Mol Biol (Noisy-le-grand) 69 (8), 198-202 (2023) PUBMED 37715384 REMARK GeneRIF: Nuclear factor-kappa B p50-induced microRNA-20a-3p plays a detrimental role in sepsis-induced acute kidney injury. Publication Status: Online-Only REFERENCE 5 (residues 1 to 971) AUTHORS Verma M, Verma D, Sripada AS, Sirohi K, Varma R, Sahu A and Alam R. TITLE NFkappaB1 inhibits memory formation and supports effector function of ILC2s in memory-driven asthma JOURNAL Front Immunol 14, 1217776 (2023) PUBMED 37575259 REMARK GeneRIF: NFkappaB1 inhibits memory formation and supports effector function of ILC2s in memory-driven asthma. Publication Status: Online-Only REFERENCE 6 (residues 1 to 971) AUTHORS Wulczyn FG, Naumann M and Scheidereit C. TITLE Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor of transcription factor NF-kappa B JOURNAL Nature 358 (6387), 597-599 (1992) PUBMED 1501714 REFERENCE 7 (residues 1 to 971) AUTHORS Inoue J, Kerr LD, Kakizuka A and Verma IM. TITLE I kappa B gamma, a 70 kd protein identical to the C-terminal half of p110 NF-kappa B: a new member of the I kappa B family JOURNAL Cell 68 (6), 1109-1120 (1992) PUBMED 1339305 REFERENCE 8 (residues 1 to 971) AUTHORS Ryseck RP, Bull P, Takamiya M, Bours V, Siebenlist U, Dobrzanski P and Bravo R. TITLE RelB, a new Rel family transcription activator that can interact with p50-NF-kappa B JOURNAL Mol Cell Biol 12 (2), 674-684 (1992) PUBMED 1732739 REFERENCE 9 (residues 1 to 971) AUTHORS Nolan GP, Ghosh S, Liou HC, Tempst P and Baltimore D. TITLE DNA binding and I kappa B inhibition of the cloned p65 subunit of NF-kappa B, a rel-related polypeptide JOURNAL Cell 64 (5), 961-969 (1991) PUBMED 2001591 REFERENCE 10 (residues 1 to 971) AUTHORS Ghosh S, Gifford AM, Riviere LR, Tempst P, Nolan GP and Baltimore D. TITLE Cloning of the p50 DNA binding subunit of NF-kappa B: homology to rel and dorsal JOURNAL Cell 62 (5), 1019-1029 (1990) PUBMED 2203532 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC101973.7 and AC110164.26. On Nov 8, 2006 this sequence version replaced NP_032715.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M57999.1, SRR13422586.332543.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..971 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 62.82 cM" Protein 1..971 /product="nuclear factor NF-kappa-B p105 subunit isoform 1" /note="nuclear factor NF-kappa-B p105 subunit; EBP-1; DNA-binding factor KBF1; NF-kappa-B1 p84/NF-kappa-B1 p98; nuclear factor of kappa light chain gene enhancer in B-cells 1, p105; NF kappaB1; NF-kappaB p50; p50 subunit of NF kappaB; nuclear factor kappaB p50" /calculated_mol_wt=105485 Region 40..241 /region_name="RHD-n_NFkB1" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of kappa B1 (NF-kappa B1); cd07935" /db_xref="CDD:143651" Site order(54,56..57,59..60,63..66,141,143..144,241) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143651" Region 248..349 /region_name="IPT_NFkappaB" /note="IPT domain of the transcription factor NFkappaB and related transcription factors. NFkappaB is considered a central regulator of stress responses, activated by different stressful conditions, including physical stress, oxidative stress, and exposure to...; cd01177" /db_xref="CDD:238582" Site order(249,251..253,255..257,297..299,312,324,343,346,348) /site_type="other" /note="ankyrin protein binding site [polypeptide binding]" /db_xref="CDD:238582" Site order(251..252,254,267,269,271,304..305,308,310) /site_type="other" /note="dimerization interface [polypeptide binding]" /db_xref="CDD:238582" Site order(272,274,305..306) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238582" Site 335 /site_type="phosphorylation" /note="Phosphoserine, by PKA. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 358..363 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 370..392 /region_name="GRR. /evidence=ECO:0000250|UniProtKB:P19838" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 431..432 /site_type="cleavage" /note="Cleavage (when cotranslationally processed). /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 433..971 /region_name="Interaction with CFLAR. /evidence=ECO:0000250|UniProtKB:P19838" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 438 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 439..470 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 447 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region <534..608 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site order(538,540,544..545,548..550,552..553,557,560,575,577, 579,583..584,587..589,591..592,596,599,608,610,612, 616..617,620..622,624..625,629,632) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 538..575 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 577..608 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 582..676 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site order(646,648,652..653,656..658,660..661,665,668,677,680, 682,686..687,690..692,694..695,700,703,712,714,716, 720..721,724..726,728) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 646..680 /region_name="Essential for interaction with HIF1AN. /evidence=ECO:0000250|UniProtKB:P19838" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 646..677 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 651..>727 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site 674 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine, by HIF1AN. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 680..712 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site 755 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q63369; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 812..886 /region_name="Death_NFkB1_p105" /note="Death domain of the Nuclear Factor-KappaB1 precursor protein p105; cd08797" /db_xref="CDD:260063" Site 896 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 910 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta, in vitro. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 926 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 930 /site_type="phosphorylation" /note="Phosphoserine, by IKKB. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 935 /site_type="phosphorylation" /note="Phosphoserine, by IKKB. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 940 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 946 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P25799.2)" CDS 1..971 /gene="Nfkb1" /gene_synonym="NF-kappaB; NF-kappaB1; NF-KB1; p105; p50; p50/p105" /coded_by="NM_008689.3:421..3336" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS17858.1" /db_xref="GeneID:18033" /db_xref="MGI:MGI:97312" ORIGIN 1 madddpygtg qmfhlntalt hsifnaelys peiplstdgp ylqileqpkq rgfrfryvce 61 gpshgglpga sseknkksyp qvkicnyvgp akvivqlvtn gknihlhahs lvgkhcedgv 121 ctvtagpkdm vvgfanlgil hvtkkkvfet learmteaci rgynpgllvh sdlaylqaeg 181 ggdrqltdre keiirqaavq qtkemdlsvv rlmftaflpd stgsftrrle pvvsdaiyds 241 kapnasnlki vrmdrtagcv tggeeiyllc dkvqkddiqi rfyeeeengg vwegfgdfsp 301 tdvhrqfaiv fktpkykdvn itkpasvfvq lrrksdlets epkpflyype ikdkeevqrk 361 rqklmpnfsd sfgggsgaga ggggmfgsgg gggstgspgp gygysnygfp pyggitfhpg 421 vtksnagvth gtintkfkng pkdcaksdde esltlpeket egegpslpma ctktepiala 481 stmedkeqdm gfqdnlflek alqlarrhan alfdyavtgd vkmllavqrh ltavqdengd 541 svlhlaiihl haqlvrdlle vtsglisddi inmrndlyqt plhlavitkq edvvedllrv 601 gadlslldrw gnsvlhlaak eghdrilsil lksrkaapli dhpngeglna ihiavmsnsl 661 pcllllvaag aevnaqeqks grtalhlave ydnislagcl llegdahvds ttydgttplh 721 iaagrgstrl aallkaagad plvenfeply dlddswekag edegvvpgtt pldmaanwqv 781 fdilngkpye pvftsddilp qgdmkqlted trlqlcklle ipdpdknwat laqklglgil 841 nnafrlspap sktlmdnyev sggtikelme alqqmgytea ieviqaafrt pattasspvt 901 taqvhclpls ssstrqhide lrdsdsvcds gvetsfrkls ftesltgdsp llslnkmphg 961 ygqegpiegk i // LOCUS NP_034815 415 aa linear ROD 09-OCT-2023 DEFINITION lysosome-associated membrane glycoprotein 2 isoform 2 precursor [Mus musculus]. ACCESSION NP_034815 VERSION NP_034815.2 DBSOURCE REFSEQ: accession NM_010685.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 415) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 415) AUTHORS Wang Y, Hang K, Ying L, Wu J, Wu X, Zhang W, Li L, Wang Z, Bai J, Gao X, Xue D and Pan Z. TITLE LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway JOURNAL J Mol Med (Berl) 101 (7), 783-799 (2023) PUBMED 37162558 REMARK GeneRIF: LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway. REFERENCE 3 (residues 1 to 415) AUTHORS Zhang KK, Zhang P, Kodur A, Erturk I, Burns CM, Kenyon C, Miller RA and Endicott SJ. TITLE LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice JOURNAL Aging (Albany NY) 15 (11), 4685-4698 (2023) PUBMED 37315291 REMARK GeneRIF: LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice. REFERENCE 4 (residues 1 to 415) AUTHORS Maglica M, Kelam N, Haque E, Perutina I, Racetin A, Filipovic N, Katsuyama Y and Vukojevic K. TITLE Immunoexpression Pattern of Autophagy Markers in Developing and Postnatal Kidneys of Dab1-/-(yotari) Mice JOURNAL Biomolecules 13 (3), 402 (2023) PUBMED 36979337 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 415) AUTHORS Sutton KA and Wilkinson MF. TITLE The rapidly evolving Pem homeobox gene and Agtr2, Ant2, and Lamp2 are closely linked in the proximal region of the mouse X chromosome JOURNAL Genomics 45 (2), 447-450 (1997) PUBMED 9344676 REFERENCE 6 (residues 1 to 415) AUTHORS Cella N, Cornejo-Uribe RR, Montes GS, Hynes NE and Chammas R. TITLE The lysosomal-associated membrane protein LAMP-1 is a novel differentiation marker for HC11 mouse mammary epithelial cells JOURNAL Differentiation 61 (2), 113-120 (1996) PUBMED 8983177 REFERENCE 7 (residues 1 to 415) AUTHORS Gough NR, Hatem CL and Fambrough DM. TITLE The family of LAMP-2 proteins arises by alternative splicing from a single gene: characterization of the avian LAMP-2 gene and identification of mammalian homologs of LAMP-2b and LAMP-2c JOURNAL DNA Cell Biol 14 (10), 863-867 (1995) PUBMED 7546292 REFERENCE 8 (residues 1 to 415) AUTHORS Dardik A, Smith RM and Schultz RM. TITLE Colocalization of transforming growth factor-alpha and a functional epidermal growth factor receptor (EGFR) to the inner cell mass and preferential localization of the EGFR on the basolateral surface of the trophectoderm in the mouse blastocyst JOURNAL Dev Biol 154 (2), 396-409 (1992) PUBMED 1426645 REFERENCE 9 (residues 1 to 415) AUTHORS Granger BL, Green SA, Gabel CA, Howe CL, Mellman I and Helenius A. TITLE Characterization and cloning of lgp110, a lysosomal membrane glycoprotein from mouse and rat cells JOURNAL J Biol Chem 265 (20), 12036-12043 (1990) PUBMED 2142158 REFERENCE 10 (residues 1 to 415) AUTHORS Cha Y, Holland SM and August JT. TITLE The cDNA sequence of mouse LAMP-2. Evidence for two classes of lysosomal membrane glycoproteins JOURNAL J Biol Chem 265 (9), 5008-5013 (1990) PUBMED 2318880 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK163933.1, AK080234.1 and AL513356.8. On Jun 9, 2003 this sequence version replaced NP_034815.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK163933.1, AK088804.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..415 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 22.67 cM" Protein 1..415 /product="lysosome-associated membrane glycoprotein 2 isoform 2 precursor" /note="lysosome-associated membrane glycoprotein 2; CD107 antigen-like family member B; lysosomal membrane glycoprotein type B; lysosomal membrane glycoprotein 2" /calculated_mol_wt=43039 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2634 Region 225..363 /region_name="Lamp" /note="Lysosome-associated membrane glycoprotein (Lamp); pfam01299" /db_xref="CDD:426189" Region 379..407 /region_name="TM_EGFR-like" /note="Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases; cd12087" /db_xref="CDD:213052" Site order(380..381,384..385,387..389,391..392,395) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:213052" CDS 1..415 /gene="Lamp2" /gene_synonym="CD107b; Lamp II; Lamp-2; Lamp-2a; Lamp-2b; Lamp-2c; LGP-B; Mac3" /coded_by="NM_010685.4:158..1405" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS30093.1" /db_xref="GeneID:16784" /db_xref="MGI:MGI:96748" ORIGIN 1 mclspvkgak liliflflga vqsnalivnl tdskgtclya ewemnftity ettnqtnkti 61 tiavpdkath dgsscgddrn sakimiqfgf avswavnftk eashysihdi vlsyntsdst 121 vfpgavakgv htvknpenfk vpldvifkcn svltynltpv vqkywgihlq afvqngtvsk 181 neqvceedqt pttvapiiht tapsttttlt ptstptptpt ptptvgnysi rngnttclla 241 tmglqlnite ekvpfifnin pattnftgsc qpqsaqlrln nsqikyldfi favknekrfy 301 lkevnvymyl angsafnisn knlsfwdapl gssymcnkeq vlsvsrafqi ntfnlkvqpf 361 nvtkgqysta qecsldddti lipiivgagl sgliivivia yligrrktya gyqtl // LOCUS NP_112445 211 aa linear ROD 09-OCT-2023 DEFINITION interleukin-6 isoform 1 precursor [Mus musculus]. ACCESSION NP_112445 VERSION NP_112445.1 DBSOURCE REFSEQ: accession NM_031168.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 211) AUTHORS Palmisano B, Riminucci M and Karsenty G. TITLE Interleukin-6 signaling in osteoblasts regulates bone remodeling during exercise JOURNAL Bone 176, 116870 (2023) PUBMED 37586472 REMARK GeneRIF: Interleukin-6 signaling in osteoblasts regulates bone remodeling during exercise. REFERENCE 2 (residues 1 to 211) AUTHORS Zhu Y, Wang L, Liu R, Ding X, Yin S, Chen Y, Zhu C, Wang Z and Li W. TITLE Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways JOURNAL FEBS Open Bio 13 (10), 1859-1873 (2023) PUBMED 37525933 REMARK GeneRIF: Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways. REFERENCE 3 (residues 1 to 211) AUTHORS Okamura K, Lu S, He Z, Altmann C, Montford JR, Li AS, Lucia MS, Orlicky DJ, Weiser-Evans M and Faubel S. TITLE IL-6 mediates the hepatic acute phase response after prerenal azotemia in a clinically defined murine model JOURNAL Am J Physiol Renal Physiol 325 (3), F328-F344 (2023) PUBMED 37471421 REMARK GeneRIF: IL-6 mediates the hepatic acute phase response after prerenal azotemia in a clinically defined murine model. REFERENCE 4 (residues 1 to 211) AUTHORS Millrine D, Cardus Figueras A, Uceda Fernandez J, Andrews R, Szomolay B, Cossins BC, Rice CM, Li J, Tyrrell VJ, McLeod L, Holmans P, O'Donnell VB, Taylor PR, Turner SJ, Jenkins BJ, Jones GW, Topley N, Williams NM and Jones SA. TITLE Th1 Cells Alter the Inflammatory Signature of IL-6 by Channeling STAT Transcription Factors to Alu-like Retroelements JOURNAL J Immunol 211 (2), 274-286 (2023) PUBMED 37272871 REMARK GeneRIF: Th1 Cells Alter the Inflammatory Signature of IL-6 by Channeling STAT Transcription Factors to Alu-like Retroelements. REFERENCE 5 (residues 1 to 211) AUTHORS Choi BR, Johnson KR, Maric D and McGavern DB. TITLE Monocyte-derived IL-6 programs microglia to rebuild damaged brain vasculature JOURNAL Nat Immunol 24 (7), 1110-1123 (2023) PUBMED 37248420 REMARK GeneRIF: Monocyte-derived IL-6 programs microglia to rebuild damaged brain vasculature. REFERENCE 6 (residues 1 to 211) AUTHORS Chin H, Mock B, Kim HL, Kim H and Kozak CA. TITLE The gene for the dihydropyridine-sensitive calcium channel alpha 2 subunit (CCHL2A) maps to the proximal region of mouse chromosome 5 JOURNAL Genomics 13 (4), 1325-1327 (1992) PUBMED 1324224 REFERENCE 7 (residues 1 to 211) AUTHORS Okada S, Nakauchi H, Nagayoshi K, Nakamura M, Miura Y and Suda T. TITLE Synergistic effect of IL-3 and IL-6 on highly enriched murine hemopoietic progenitors JOURNAL Exp Hematol 20 (5), 546-551 (1992) PUBMED 1350248 REFERENCE 8 (residues 1 to 211) AUTHORS Vandevoorde V, Haegeman G and Fiers W. TITLE TNF-mediated IL6 gene expression and cytotoxicity are co-inducible in TNF-resistant L929 cells JOURNAL FEBS Lett 302 (3), 235-238 (1992) PUBMED 1318227 REFERENCE 9 (residues 1 to 211) AUTHORS Fiorillo MT, Toniatti C, Van Snick J and Ciliberto G. TITLE Expression of the murine interleukin 6 receptor in hepatoma cells: the intracytoplasmic domain is not required for interleukin 6 signal transduction JOURNAL Eur J Immunol 22 (3), 799-804 (1992) PUBMED 1312474 REFERENCE 10 (residues 1 to 211) AUTHORS Bodine DM, Orlic D, Birkett NC, Seidel NE and Zsebo KM. TITLE Stem cell factor increases colony-forming unit-spleen number in vitro in synergy with interleukin-6, and in vivo in Sl/Sld mice as a single factor JOURNAL Blood 79 (4), 913-919 (1992) PUBMED 1371079 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC112933.16 and AK150440.1. Summary: This gene encodes a member of the interleukin family of cytokines that have important functions in immune response, hematopoiesis, inflammation and the acute phase response. The ectopic overexpression of the encoded protein in mice results in excessive plasma cells in circulation, leading to death. Mice lacking the encoded protein exhibit abnormalities in hepatic acute phase response, some immune mechanisms, bone resorption in response to estrogen, liver regeneration and wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150440.1, J03783.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..211 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 15.7 cM" Protein 1..211 /product="interleukin-6 isoform 1 precursor" /note="interleukin HP-1; B-cell hybridoma growth factor" /calculated_mol_wt=21735 sig_peptide 1..24 /note="/evidence=ECO:0000269|PubMed:2948184, ECO:0000269|PubMed:3262059; propagated from UniProtKB/Swiss-Prot (P08505.1)" /calculated_mol_wt=2667 mat_peptide 25..211 /product="Interleukin-6. /id=PRO_0000015588" /note="propagated from UniProtKB/Swiss-Prot (P08505.1)" /calculated_mol_wt=21735 Region 27..210 /region_name="IL6" /note="Interleukin-6/G-CSF/MGF family; pfam00489" /db_xref="CDD:395393" CDS 1..211 /gene="Il6" /gene_synonym="Il-6" /coded_by="NM_031168.2:79..714" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS19153.1" /db_xref="GeneID:16193" /db_xref="MGI:MGI:96559" ORIGIN 1 mkflsardfh pvaflglmlv tttafptsqv rrgdftedtt pnrpvyttsq vgglithvlw 61 eivemrkelc ngnsdcmnnd dalaennlkl peiqrndgcy qtgynqeicl lkissglley 121 hsyleymknn lkdnkkdkar vlqrdtetli hifnqevkdl hkivlptpis nalltdkles 181 qkewlrtkti qfilksleef lkvtlrstrq t // LOCUS NP_001397181 419 aa linear ROD 09-OCT-2023 DEFINITION Friend leukemia integration 1 transcription factor isoform 3 [Mus musculus]. ACCESSION NP_001397181 XP_006510071 VERSION NP_001397181.1 DBSOURCE REFSEQ: accession NM_001410252.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 419) AUTHORS Wang X, Richard ML, Caldwell TS, Sundararaj K, Sato S, Nowling TK and Zhang XK. TITLE Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis JOURNAL Front Immunol 14, 1219279 (2023) PUBMED 37790939 REMARK GeneRIF: Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 419) AUTHORS Sato S, Zhang XK, Matsuoka N, Sumichika Y, Saito K, Yoshida S, Matsumoto H, Temmoku J, Fujita Y, Asano T and Migita K. TITLE Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse JOURNAL Lupus Sci Med 10 (1) (2023) PUBMED 37094946 REMARK GeneRIF: Transcription factor Fli-1 impacts the expression of CXCL13 and regulates immune cell infiltration into the kidney in MRL/lpr mouse. REFERENCE 3 (residues 1 to 419) AUTHORS Shintani A, Fukai S, Nobusawa R, Taniguchi K, Hatatani T, Nagai H, Sakai T, Yoshimura T, Miyasaka M and Hayasaka H. TITLE Dach1 transcription factor regulates the expression of peripheral node addressin and lymphocyte trafficking in lymph nodes JOURNAL Curr Res Immunol 3, 175-185 (2022) PUBMED 36045707 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 419) AUTHORS Sinha T, Lammerts van Bueren K, Dickel DE, Zlatanova I, Thomas R, Lizama CO, Xu SM, Zovein AC, Ikegami K, Moskowitz IP, Pollard KS, Pennacchio LA and Black BL. TITLE Differential Etv2 threshold requirement for endothelial and erythropoietic development JOURNAL Cell Rep 39 (9), 110881 (2022) PUBMED 35649376 REFERENCE 5 (residues 1 to 419) AUTHORS Sarrazin S, Starck J, Gonnet C, Doubeikovski A, Melet F and Morle F. TITLE Negative and translation termination-dependent positive control of FLI-1 protein synthesis by conserved overlapping 5' upstream open reading frames in Fli-1 mRNA JOURNAL Mol Cell Biol 20 (9), 2959-2969 (2000) PUBMED 10757781 REFERENCE 6 (residues 1 to 419) AUTHORS Barbeau B, Bergeron D, Beaulieu M, Nadjem Z and Rassart E. TITLE Characterization of the human and mouse Fli-1 promoter regions JOURNAL Biochim Biophys Acta 1307 (2), 220-232 (1996) PUBMED 8679708 REFERENCE 7 (residues 1 to 419) AUTHORS Watson DK, Smyth FE, Thompson DM, Cheng JQ, Testa JR, Papas TS and Seth A. TITLE The ERGB/Fli-1 gene: isolation and characterization of a new member of the family of human ETS transcription factors JOURNAL Cell Growth Differ 3 (10), 705-713 (1992) PUBMED 1445800 REFERENCE 8 (residues 1 to 419) AUTHORS Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G et al. TITLE Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours JOURNAL Nature 359 (6391), 162-165 (1992) PUBMED 1522903 REFERENCE 9 (residues 1 to 419) AUTHORS Moore SK, Appella E, Villar CJ and Kozak CA. TITLE Mapping of the mouse 86-kDa heat-shock protein expressed gene (Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11 JOURNAL Genomics 10 (4), 1019-1029 (1991) PUBMED 1916807 REFERENCE 10 (residues 1 to 419) AUTHORS Bergeron D, Poliquin L, Kozak CA and Rassart E. TITLE Identification of a common viral integration region in Cas-Br-E murine leukemia virus-induced non-T-, non-B-cell lymphomas JOURNAL J Virol 65 (1), 7-15 (1991) PUBMED 1845910 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127581.4 and AC141646.4. On Aug 1, 2022 this sequence version replaced XP_006510071.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422603.217109.1, SRR17784646.1104630.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..419 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 17.74 cM" Protein 1..419 /product="Friend leukemia integration 1 transcription factor isoform 3" /note="friend leukemia integration 1 transcription factor; retroviral integration site protein Fli-1" /calculated_mol_wt=47465 Region 81..171 /region_name="SAM_PNT-FLI-1" /note="Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator; cd08541" /db_xref="CDD:188883" Region 247..330 /region_name="ETS" /note="erythroblast transformation specific domain; smart00413" /db_xref="CDD:197710" CDS 1..419 /gene="Fli1" /gene_synonym="EWSR2; Fli-1; SIC-1; Sic1" /coded_by="NM_001410252.1:385..1644" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:14247" /db_xref="MGI:MGI:95554" ORIGIN 1 mtasgspdyg qphkinplpp qqewinqpvr vnvkreydhm ngsrespvdc svskcnklvg 61 ggeanpmnyn symdekngpp ppnmttnerr vivpadptlw tqehvrqwle waikeyglme 121 idtsffqnmd gkelckmnke dflratsayn tevllshlsy lressllayn ttshtdqssr 181 lnvkedpsyd svrrgawnnn mnsglnkspl lggsqtmgkn teqrpqpdpy qilgptssrl 241 anpgsgqiql wqfllellsd sanascitwe gtngefkmtd pdevarrwge rkskpnmnyd 301 klsralryyy dknimtkvhg kryaykfdfh giaqalqphp tetsmykyps disympsyha 361 hqqkvnfvps hpssmpvtss sffgaasqyw tsptagiypn psvprhpnth vpshlgsyy // LOCUS NP_035196 1257 aa linear ROD 09-OCT-2023 DEFINITION period circadian protein homolog 2 isoform 1 [Mus musculus]. ACCESSION NP_035196 VERSION NP_035196.2 DBSOURCE REFSEQ: accession NM_011066.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1257) AUTHORS Millius A, Yamada RG, Fujishima H, Maeda K, Standley DM, Sumiyama K, Perrin D and Ueda HR. TITLE Circadian ribosome profiling reveals a role for the Period2 upstream open reading frame in sleep JOURNAL Proc Natl Acad Sci U S A 120 (40), e2214636120 (2023) PUBMED 37769257 REMARK GeneRIF: Circadian ribosome profiling reveals a role for the Period2 upstream open reading frame in sleep. REFERENCE 2 (residues 1 to 1257) AUTHORS Sayson LV, Lee HJ, Ortiz DM, Kim M, Custodio RJP, Lee CH, Lee YS, Cheong JH and Kim HJ. TITLE The differential vulnerabilities of Per2 knockout mice to the addictive properties of methamphetamine and cocaine JOURNAL Prog Neuropsychopharmacol Biol Psychiatry 126, 110782 (2023) PUBMED 37141987 REMARK GeneRIF: The differential vulnerabilities of Per2 knockout mice to the addictive properties of methamphetamine and cocaine. REFERENCE 3 (residues 1 to 1257) AUTHORS Bora G, Onel T, Yildirim E and Yaba A. TITLE Circadian regulation of mTORC1 signaling via Per2 dependent mechanism disrupts folliculogenesis and oocyte maturation in female mice JOURNAL J Mol Histol 54 (3), 217-229 (2023) PUBMED 37162693 REMARK GeneRIF: Circadian regulation of mTORC1 signaling via Per2 dependent mechanism disrupts folliculogenesis and oocyte maturation in female mice. REFERENCE 4 (residues 1 to 1257) AUTHORS Guo L, Cen H, Weng J, He Y, Guo X, He D, Liu K, Duan S, Yang J, Zhang X, Qin Z, Wan Y, Chen Z and Wu B. TITLE PER2 integrates circadian disruption and pituitary tumorigenesis JOURNAL Theranostics 13 (8), 2657-2672 (2023) PUBMED 37215573 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1257) AUTHORS Wendrich KS, Azimi H, Ripperger JA, Ravussin Y, Rainer G and Albrecht U. TITLE Deletion of the Circadian Clock Gene Per2 in the Whole Body, but Not in Neurons or Astroglia, Affects Sleep in Response to Sleep Deprivation JOURNAL Clocks Sleep 5 (2), 204-225 (2023) PUBMED 37092429 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1257) AUTHORS Takumi T, Taguchi K, Miyake S, Sakakida Y, Takashima N, Matsubara C, Maebayashi Y, Okumura K, Takekida S, Yamamoto S, Yagita K, Yan L, Young MW and Okamura H. TITLE A light-independent oscillatory gene mPer3 in mouse SCN and OVLT JOURNAL EMBO J 17 (16), 4753-4759 (1998) PUBMED 9707434 REFERENCE 7 (residues 1 to 1257) AUTHORS Sassone-Corsi,P. TITLE Molecular clocks: mastering time by gene regulation JOURNAL Nature 392 (6679), 871-874 (1998) PUBMED 9582067 REFERENCE 8 (residues 1 to 1257) AUTHORS Takumi T, Matsubara C, Shigeyoshi Y, Taguchi K, Yagita K, Maebayashi Y, Sakakida Y, Okumura K, Takashima N and Okamura H. TITLE A new mammalian period gene predominantly expressed in the suprachiasmatic nucleus JOURNAL Genes Cells 3 (3), 167-176 (1998) PUBMED 9619629 REFERENCE 9 (residues 1 to 1257) AUTHORS Albrecht U, Sun ZS, Eichele G and Lee CC. TITLE A differential response of two putative mammalian circadian regulators, mper1 and mper2, to light JOURNAL Cell 91 (7), 1055-1064 (1997) PUBMED 9428527 REFERENCE 10 (residues 1 to 1257) AUTHORS Shearman LP, Zylka MJ, Weaver DR, Kolakowski LF Jr and Reppert SM. TITLE Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei JOURNAL Neuron 19 (6), 1261-1269 (1997) PUBMED 9427249 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC109199.10 and AC110510.6. On Jul 25, 2007 this sequence version replaced NP_035196.1. Summary: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF036893.1, AK122253.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1257 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 46.13 cM" Protein 1..1257 /product="period circadian protein homolog 2 isoform 1" /note="period 2; period circadian protein homolog 2; circadian clock protein PERIOD 2; period homolog 2" /calculated_mol_wt=135769 Region 1..60 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 109..118 /region_name="Nuclear export signal 1. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 306..310 /region_name="LXXLL" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 344..428 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(344,348,354,367..370,398,403) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(364,368,376,379..380,410,412) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region <445..>982 /region_name="PRK10263" /note="DNA translocase FtsK; Provisional" /db_xref="CDD:236669" Region 460..469 /region_name="Nuclear export signal 2. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 471..565 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 478..482 /region_name="Important for protein stability. /evidence=ECO:0000250|UniProtKB:Q9Z301" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 510..709 /region_name="CSNK1E binding domain. /evidence=ECO:0000269|PubMed:14701732" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 525 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 528 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 531 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 538 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 544 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 554 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 617..638 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 659 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O15055; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 693 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 697 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 706 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 757..832 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 758 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 763 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 778..794 /region_name="Nuclear localization signal. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region <790..1038 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Site 858 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 882..1067 /region_name="Interaction with PPARG. /evidence=ECO:0000269|PubMed:21035761" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 939 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 964 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 971 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 983..990 /region_name="Nuclear export signal 3. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 994..1044 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1040..1210 /region_name="Period_C" /note="Period protein 2/3C-terminal region; pfam12114" /db_xref="CDD:432341" Region 1051..1055 /region_name="LXXLL" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1070..1115 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 1126 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1157..1257 /region_name="CRY binding domain. /evidence=ECO:0000250|UniProtKB:Q9Z301" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1224..1257 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" CDS 1..1257 /gene="Per2" /gene_synonym="mKIAA0347; mPer2" /coded_by="NM_011066.4:153..3926" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS35663.1" /db_xref="GeneID:18627" /db_xref="MGI:MGI:1195265" ORIGIN 1 mngyvdfsps ptsptkepga pqptqavlqe dvdmssgssg nencstgrds qgsdcddngk 61 elrmlvessn thpspddafr lmmteaehnp stsgcsseqs akadahkeli rtlkelkvhl 121 padkkakgka stlatlkyal rsvkqvkane eyyqllmsse sqpcsvdvps ysmeqvegit 181 seyivknadm favavslvsg kilyisnqva sifhckkdaf sdakfvefla phdvsvfhsy 241 ttpyklppws vcsgldsftq ecmeeksffc rvsvgkhhen eiryqpfrmt pylvkvqeqq 301 gaesqlccll laervhsgye aprippekri fttthtpncl fqavderavp llgylpqdli 361 etpvlvqlhp sdrplmlaih kkilqaggqp fdyspirfrt rngeyitldt swssfinpws 421 rkisfiigrh kvrvgplned vfaaspcpee ktphpsvqel teqihrllmq pvphsgssgy 481 gslgsngshe hlmsqtsssd sngqeeshrr rsgifktsgk iqtkshvshe sggqkeasva 541 emqssppaqv kavttierds sgaslpkasf peelayknqp pcsyqqiscl dsvirylesc 601 seaatlkrkc efpanipsrk atvspglhsg eaarpskvts htevsahlss ltlpgkaesv 661 vsltsqcsys stivhvgdkk pqpeletved masgpesldg aagglsqekg plqklgltke 721 vlaahtqree qgflqrfrev srlsalqahc qnylqersra qasdrglrnt sglesswkkt 781 gknrklkskr vktrdssest gsggpvshrp plmglnataw spsdtsqssc psapfptavp 841 ayplpvfqap givstpgtvv appaathtgf tmpvvpmgtq pefavqplpf aaplapvmaf 901 mlpsypfppa tpnlpqaflp sqphfpahpt laseitpasq aefpsrtstl rqpcacpvtp 961 pagtvalgra spplfqsrgs splqlnllql eeapegstga agtlgttgta asgldctsgt 1021 srdrqpkapp tcnepsdtqn sdaistssdl lnlllgedlc satgsalsrs gasatsdslg 1081 ssslgfgtsq sgagssdtsh tskyfgsids sennhkakmi pdteeseqfi kyvlqdpiwl 1141 lmantddsim mtyqlpsrdl qavlkedqek lkllqrsqpr ftegqrrelr evhpwvhtgg 1201 lptaidvtgc vyceseekgn iclpyeedsp spglcdtsea keeegeqltg prieaqt // LOCUS NP_001368855 657 aa linear ROD 09-OCT-2023 DEFINITION broad substrate specificity ATP-binding cassette transporter ABCG2 [Mus musculus]. ACCESSION NP_001368855 XP_030111262 VERSION NP_001368855.1 DBSOURCE REFSEQ: accession NM_001381926.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 657) AUTHORS Notsu T, Kurata Y, Ninomiya H, Taufiq F, Komatsu K, Miake J, Sawano T, Tsuneto M, Shirayoshi Y and Hisatome I. TITLE Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells JOURNAL Hypertens Res 46 (10), 2368-2377 (2023) PUBMED 37592041 REMARK GeneRIF: Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells. REFERENCE 2 (residues 1 to 657) AUTHORS Harby SA, Khalil NA, El-Sayed NS, Thabet EH, Saleh SR and Fathelbab MH. TITLE Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine JOURNAL Naunyn Schmiedebergs Arch Pharmacol 396 (10), 2627-2636 (2023) PUBMED 37067582 REMARK GeneRIF: Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine. REFERENCE 3 (residues 1 to 657) AUTHORS Blanco-Paniagua E, Alvarez-Fernandez L, Rodriguez-Alonso A, Millan-Garcia A, Alvarez AI and Merino G. TITLE Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin JOURNAL Antimicrob Agents Chemother 67 (5), e0009523 (2023) PUBMED 37078871 REMARK GeneRIF: Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin. REFERENCE 4 (residues 1 to 657) AUTHORS Wu C, Xiao Y, Wu C, Xie D, Luo M, Yao D, Chen M and Lu D. TITLE Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha JOURNAL Xenobiotica 53 (3), 215-222 (2023) PUBMED 37039301 REMARK GeneRIF: Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha. REFERENCE 5 (residues 1 to 657) AUTHORS Alvarez-Fernandez L, Gomez-Gomez A, Haro N, Garcia-Lino AM, Alvarez AI, Pozo OJ and Merino G. TITLE ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites JOURNAL J Pineal Res 74 (2), e12849 (2023) PUBMED 36562106 REMARK GeneRIF: ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites. REFERENCE 6 (residues 1 to 657) AUTHORS Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF and Kornblum HI. TITLE A genetic analysis of neural progenitor differentiation JOURNAL Neuron 29 (2), 325-339 (2001) PUBMED 11239426 REFERENCE 7 (residues 1 to 657) AUTHORS Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH and Schinkel AH. TITLE Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan JOURNAL J Natl Cancer Inst 92 (20), 1651-1656 (2000) PUBMED 11036110 REFERENCE 8 (residues 1 to 657) AUTHORS Schriml LM and Dean M. TITLE Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus JOURNAL Genomics 64 (1), 24-31 (2000) PUBMED 10708515 REFERENCE 9 (residues 1 to 657) AUTHORS Allen JD, Brinkhuis RF, Wijnholds J and Schinkel AH. TITLE The mouse Bcrp1/Mxr/Abcp gene: amplification and overexpression in cell lines selected for resistance to topotecan, mitoxantrone, or doxorubicin JOURNAL Cancer Res 59 (17), 4237-4241 (1999) PUBMED 10485464 REFERENCE 10 (residues 1 to 657) AUTHORS Allikmets R, Schriml LM, Hutchinson A, Romano-Spica V and Dean M. TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance JOURNAL Cancer Res 58 (23), 5337-5339 (1998) PUBMED 9850061 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121855.3 and AC121859.2. On Apr 20, 2020 this sequence version replaced XP_030111262.1. Summary: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.1928304.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..657 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 27.82 cM" Protein 1..657 /product="broad substrate specificity ATP-binding cassette transporter ABCG2" /EC_number="7.6.2.2" /note="mitoxantrone resistance protein 1; ATP-binding cassette sub-family G member 2; breast cancer resistance protein 1 homolog; urate exporter; ATP-binding cassette, sub-family G (WHITE), member 2" /calculated_mol_wt=72891 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Region 46..651 /region_name="3a01204" /note="The Eye Pigment Precursor Transporter (EPP) Family protein; TIGR00955" /db_xref="CDD:273361" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 429..449 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 478..498 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 507..527 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 536..556 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 596 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 633..653 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" CDS 1..657 /gene="Abcg2" /gene_synonym="ABC15; ABCP; BCRP; Bcrp1; MXR; MXR1" /coded_by="NM_001381926.1:178..2151" /db_xref="GeneID:26357" /db_xref="MGI:MGI:1347061" ORIGIN 1 msssndhvlv pmsqrnnngl prmnsravrt laegdvlsfh hityrvkvks gflvrktvek 61 eilsdingim kpglnailgp tgggksslld vlaarkdpkg lsgdvlinga pqpahfkccs 121 gyvvqddvvm gtltvrenlq fsaalrlptt mknhekneri ntiikelgle kvadskvgtq 181 firgisgger krtsigmeli tdpsilflde pttgldssta navllllkrm skqgrtiifs 241 ihqprysifk lfdsltllas gklvfhgpaq kaleyfasag yhcepynnpa dffldvingd 301 ssavmlnree qdneanktee pskgekpvie nlsefyinsa iygetkaeld qlpgaqekkg 361 tsafkepvyv tsfchqlrwi arrsfknllg npqasvaqli vtvilgliig aiyfdlkyda 421 agmqnragvl fflttnqcfs svsavelfvv ekklfiheyi sgyyrvssyf fgkvmsdllp 481 mrflpsvift cilyfmlglk ktvdaffimm ftlimvayta ssmalaiatg qsvvsvatll 541 mtiafvfmml fsgllvnlrt igpwlswlqy fsiprygfta lqyneflgqe fcpgfnvtdn 601 stcvnsyaic tgneylinqg ielspwglwk nhvalacmii ifltiaylkl lflkkys // LOCUS NP_001346489 81 aa linear ROD 09-OCT-2023 DEFINITION costars family protein ABRACL [Mus musculus]. ACCESSION NP_001346489 XP_011241512 VERSION NP_001346489.1 DBSOURCE REFSEQ: accession NM_001359560.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 81) AUTHORS Troumpoukis D, Vasileiou AR, Siskos N, Stylianopoulou E, Ypsilantis P, Skavdis G and Grigoriou ME. TITLE Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon JOURNAL Biomolecules 13 (9), 1337 (2023) PUBMED 37759737 REMARK GeneRIF: Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon. Publication Status: Online-Only REFERENCE 2 (residues 1 to 81) AUTHORS Pensold D, Symmank J, Hahn A, Lingner T, Salinas-Riester G, Downie BR, Ludewig F, Rotzsch A, Haag N, Andreas N, Schubert K, Hubner CA, Pieler T and Zimmer G. TITLE The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral Cortex JOURNAL Cereb Cortex 27 (12), 5696-5714 (2017) PUBMED 29117290 REFERENCE 3 (residues 1 to 81) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 4 (residues 1 to 81) AUTHORS Nelson PS, Pritchard C, Abbott D and Clegg N. TITLE The human (PEDB) and mouse (mPEDB) Prostate Expression Databases JOURNAL Nucleic Acids Res 30 (1), 218-220 (2002) PUBMED 11752298 REFERENCE 5 (residues 1 to 81) AUTHORS Kagami Y and Furuichi T. TITLE Investigation of differentially expressed genes during the development of mouse cerebellum JOURNAL Brain Res Gene Expr Patterns 1 (1), 39-59 (2001) PUBMED 15018818 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB838485.1, AC153896.10, AK013984.1 and AW492391.1. On Jan 13, 2018 this sequence version replaced XP_011241512.1. ##Evidence-Data-START## Transcript exon combination :: AW823811.1, SRR7345562.101482.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..81 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 7.39 cM" Protein 1..81 /product="costars family protein ABRACL" /note="ABRA C-terminal-like protein" /calculated_mol_wt=8927 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9P1F3; propagated from UniProtKB/Swiss-Prot (Q4KML4.1)" Region 2..79 /region_name="Costars" /note="pfam14705" /db_xref="CDD:434145" CDS 1..81 /gene="Abracl" /gene_synonym="1700028I04Rik; 3110003A17Rik" /coded_by="NM_001359560.1:103..348" /db_xref="CCDS:CCDS48506.1" /db_xref="GeneID:73112" /db_xref="MGI:MGI:1920362" ORIGIN 1 mnvehevnll veeihrlgsr nadgklsvkf gvlfqddrca nlfealvgtl kaakrrkivt 61 yagelllqgv hddvdivllq d // LOCUS NP_035616 722 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 3 isoform 3 [Mus musculus]. ACCESSION NP_035616 XP_912491 VERSION NP_035616.1 DBSOURCE REFSEQ: accession NM_011486.5 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 722) AUTHORS Xiao D, Zeng T, Zhu W, Yu ZZ, Huang W, Yi H, Lu SS, Feng J, Feng XP, Wu D, Wen Q, Zhou JH, Yuan L, Zhuang W and Xiao ZQ. TITLE ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers JOURNAL Cancer Immunol Res 11 (10), 1367-1383 (2023) PUBMED 37566399 REMARK GeneRIF: ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers. REFERENCE 2 (residues 1 to 722) AUTHORS Ramos RB, Martino N, Chuy D, Lu S, Zuo MXG, Balasubramanian U, Di John Portela I, Vincent PA and Adam AP. TITLE Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium JOURNAL J Cell Sci 136 (18) (2023) PUBMED 37667913 REMARK GeneRIF: Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium. REFERENCE 3 (residues 1 to 722) AUTHORS Liu L, Xu W, Li K, Hu Y, Shen L, Zhang H and Wang Y. TITLE Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway JOURNAL Arch Biochem Biophys 746, 109719 (2023) PUBMED 37591369 REMARK GeneRIF: Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway. REFERENCE 4 (residues 1 to 722) AUTHORS Xu F, Lu S, Jia X and Zhou Y. TITLE Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis JOURNAL Toxicol Lett 385, 42-50 (2023) PUBMED 37634812 REMARK GeneRIF: Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis. REFERENCE 5 (residues 1 to 722) AUTHORS Pencik J, Philippe C, Schlederer M, Atas E, Pecoraro M, Grund-Groschke S, Li WJ, Tracz A, Heidegger I, Lagger S, Trachtova K, Oberhuber M, Heitzer E, Aksoy O, Neubauer HA, Wingelhofer B, Orlova A, Witzeneder N, Dillinger T, Redl E, Greiner G, D'Andrea D, Ostman JR, Tangermann S, Hermanova I, Schafer G, Sternberg F, Pohl EE, Sternberg C, Varady A, Horvath J, Stoiber D, Malcolm TI, Turner SD, Parkes EE, Hantusch B, Egger G, Rose-John S, Poli V, Jain S, Armstrong CWD, Hoermann G, Goffin V, Aberger F, Moriggl R, Carracedo A, McKinney C, Kennedy RD, Klocker H, Speicher MR, Tang DG, Moazzami AA, Heery DM, Hacker M and Kenner L. TITLE STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway JOURNAL Mol Cancer 22 (1), 133 (2023) PUBMED 37573301 REMARK GeneRIF: STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway. Publication Status: Online-Only REFERENCE 6 (residues 1 to 722) AUTHORS Schaefer TS, Sanders LK and Nathans D. TITLE Cooperative transcriptional activity of Jun and Stat3 beta, a short form of Stat3 JOURNAL Proc Natl Acad Sci U S A 92 (20), 9097-9101 (1995) PUBMED 7568080 REFERENCE 7 (residues 1 to 722) AUTHORS Wen Z, Zhong Z and Darnell JE Jr. TITLE Maximal activation of transcription by Stat1 and Stat3 requires both tyrosine and serine phosphorylation JOURNAL Cell 82 (2), 241-250 (1995) PUBMED 7543024 REFERENCE 8 (residues 1 to 722) AUTHORS Raz R, Durbin JE and Levy DE. TITLE Acute phase response factor and additional members of the interferon-stimulated gene factor 3 family integrate diverse signals from cytokines, interferons, and growth factors JOURNAL J Biol Chem 269 (39), 24391-24395 (1994) PUBMED 7523373 REFERENCE 9 (residues 1 to 722) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 REFERENCE 10 (residues 1 to 722) AUTHORS Akira S, Nishio Y, Inoue M, Wang XJ, Wei S, Matsusaka T, Yoshida K, Sudo T, Naruto M and Kishimoto T. TITLE Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway JOURNAL Cell 77 (1), 63-71 (1994) PUBMED 7512451 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL591466.8. On Dec 7, 2005 this sequence version replaced XP_912491.1. Summary: The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (3), also called Stat3B or Stat3beta, uses an alternate splice site in the 3' coding region, resulting in an early stop codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC019168.1, U30709.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..722 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 63.82 cM" Protein 1..722 /product="signal transducer and activator of transcription 3 isoform 3" /note="acute phase response factor" /calculated_mol_wt=82996 Region 2..120 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Region 139..318 /region_name="STAT3_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16853" /db_xref="CDD:341078" Site order(142..165,213..239,263..284) /site_type="other" /note="coiled-coil motif" /db_xref="CDD:341078" Region 150..162 /region_name="Essential for nuclear import" /note="propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 214..215 /site_type="other" /note="ligand inducing" /db_xref="CDD:341078" Site order(243,245,247..248,251..252,260..261,264,267..268, 271..272,275,278..279,313..314) /site_type="other" /note="heterodimer interface [polypeptide binding]" /db_xref="CDD:341078" Region 321..484 /region_name="STAT3_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16847" /db_xref="CDD:341085" Site order(382,417,432,465..466,469) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341085" Region 554..715 /region_name="SH2_STAT3" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 3 proteins; cd10374" /db_xref="CDD:198237" Site order(591,609,636,638) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site 601 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 615 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 631 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site order(637,653) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site order(647..648,710) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198237" Site 685 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 705 /site_type="phosphorylation" /note="Phosphotyrosine, by FER and PTK6. /evidence=ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11553624, ECO:0007744|PubMed:18034455; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 707 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 714 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P42227.2)" CDS 1..722 /gene="Stat3" /gene_synonym="1110034C02Rik; Aprf" /coded_by="NM_011486.5:309..2477" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS25441.1" /db_xref="GeneID:20848" /db_xref="MGI:MGI:103038" ORIGIN 1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatlvfhnl 61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrllqtaa 121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfnyktlk 181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktltdeel 241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykgdpivq 301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkfpelny 361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlreqrcgn 421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawasilwy 481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgpgvnys 541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kererailst 601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiimgykim 661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg saapylktkf icvtpfidav 721 wk // LOCUS NP_032519 167 aa linear ROD 09-OCT-2023 DEFINITION leptin precursor [Mus musculus]. ACCESSION NP_032519 VERSION NP_032519.1 DBSOURCE REFSEQ: accession NM_008493.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 167) AUTHORS Williamson A, da Silva A, do Carmo JM, Le Maitre CL, Hall JE and Aberdein N. TITLE Impact of leptin deficiency on male tibia and vertebral body 3D bone architecture independent of changes in body weight JOURNAL Physiol Rep 11 (19) (2023) PUBMED 37786973 REMARK GeneRIF: Impact of leptin deficiency on male tibia and vertebral body 3D bone architecture independent of changes in body weight. REFERENCE 2 (residues 1 to 167) AUTHORS Blandin A, Amosse J, Froger J, Hilairet G, Durcin M, Fizanne L, Ghesquiere V, Prieur X, Chaigneau J, Vergori L, Dray C, Pradere JP, Blandin S, Dupont J, Ducluzeau PH, Dubois S, Boursier J, Cariou B and Le Lay S. TITLE Extracellular vesicles are carriers of adiponectin with insulin-sensitizing and anti-inflammatory properties JOURNAL Cell Rep 42 (8), 112866 (2023) PUBMED 37605533 REFERENCE 3 (residues 1 to 167) AUTHORS Kobiita A, Silva PN, Schmid MW and Stoffel M. TITLE FoxM1 coordinates cell division, protein synthesis, and mitochondrial activity in a subset of beta cells during acute metabolic stress JOURNAL Cell Rep 42 (8), 112986 (2023) PUBMED 37590136 REFERENCE 4 (residues 1 to 167) AUTHORS Wang Y, Wan R and Hu C. TITLE Leptin/obR signaling exacerbates obesity-related neutrophilic airway inflammation through inflammatory M1 macrophages JOURNAL Mol Med 29 (1), 100 (2023) PUBMED 37488474 REMARK GeneRIF: Leptin/obR signaling exacerbates obesity-related neutrophilic airway inflammation through inflammatory M1 macrophages. Publication Status: Online-Only REFERENCE 5 (residues 1 to 167) AUTHORS Chan MP, Takenaka N and Satoh T. TITLE Impaired Insulin Signaling Mediated by the Small GTPase Rac1 in Skeletal Muscle of the Leptin-Deficient Obese Mouse JOURNAL Int J Mol Sci 24 (14), 11531 (2023) PUBMED 37511290 REMARK GeneRIF: Impaired Insulin Signaling Mediated by the Small GTPase Rac1 in Skeletal Muscle of the Leptin-Deficient Obese Mouse. Publication Status: Online-Only REFERENCE 6 (residues 1 to 167) AUTHORS Thurlby,P.L. and Trayhurn,P. TITLE The role of thermoregulatory thermogenesis in the development of obesity in genetically-obese (ob/ob) mice pair-fed with lean siblings JOURNAL Br J Nutr 42 (3), 377-385 (1979) PUBMED 508700 REFERENCE 7 (residues 1 to 167) AUTHORS Lin,M.H., Romsos,D.R., Akera,T. and Leveille,G.A. TITLE Na+,K+-ATPase enzyme units in skeletal muscle and liver of 14-day-old lean and obese (ob/ob) mice JOURNAL Proc Soc Exp Biol Med 161 (3), 235-238 (1979) PUBMED 223169 REFERENCE 8 (residues 1 to 167) AUTHORS Ruddle,N.H., Conta,B.S., Leinwand,L., Kozak,C., Ruddle,F., Besmer,P. and Baltimore,D. TITLE Assignment of the receptor for ecotropic murine leukemia virus to mouse chromosome 5 JOURNAL J Exp Med 148 (2), 451-465 (1978) PUBMED 212501 REFERENCE 9 (residues 1 to 167) AUTHORS Coleman,D.L. TITLE Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice JOURNAL Diabetologia 14 (3), 141-148 (1978) PUBMED 350680 REMARK Review article REFERENCE 10 (residues 1 to 167) AUTHORS Trayhurn,P. and James,W.P. TITLE Thermoregulation and non-shivering thermogenesis in the genetically obese (ob/ob) mouse JOURNAL Pflugers Arch 373 (2), 189-193 (1978) PUBMED 565045 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK030984.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK030984.1, HQ166716.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..167 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.3 cM" Protein 1..167 /product="leptin precursor" /note="obesity factor" /calculated_mol_wt=16004 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2722 Region 26..167 /region_name="Leptin" /note="pfam02024" /db_xref="CDD:396559" CDS 1..167 /gene="Lep" /gene_synonym="ob; obese" /coded_by="NM_008493.3:60..563" /db_xref="CCDS:CCDS19955.1" /db_xref="GeneID:16846" /db_xref="MGI:MGI:104663" ORIGIN 1 mcwrplcrfl wlwsylsyvq avpiqkvqdd tktliktivt rindishtqs vsakqrvtgl 61 dfipglhpil slskmdqtla vyqqvltslp sqnvlqiand lenlrdllhl lafskscslp 121 qtsglqkpes ldgvleasly stevvalsrl qgslqdilqq ldvspec // LOCUS NP_001034088 1164 aa linear ROD 09-OCT-2023 DEFINITION phospholipid-transporting ATPase IA isoform a [Mus musculus]. ACCESSION NP_001034088 VERSION NP_001034088.1 DBSOURCE REFSEQ: accession NM_001038999.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1164) AUTHORS Xu H, Oses-Prieto JA, Khvotchev M, Jain S, Liang J, Burlingame A and Edwards RH. TITLE Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1 JOURNAL Nat Neurosci 26 (10), 1685-1700 (2023) PUBMED 37723322 REMARK GeneRIF: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1. REFERENCE 2 (residues 1 to 1164) AUTHORS Zheng L, Pan C, Tian W, Liang C, Feng Y, He W, Yang Z, Wang B, Qiu Q, Li N, Sun Y, Qiu H, Sample KM, Zhou L, Zhu X and Hu Y. TITLE Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function JOURNAL Cell Oncol (Dordr) 46 (4), 1069-1083 (2023) PUBMED 36930333 REMARK GeneRIF: Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function. REFERENCE 3 (residues 1 to 1164) AUTHORS Kook S, Wang P, Meng S, Jetter CS, Sucre JMS, Benjamin JT, Gokey JJ, Hanby HA, Jaume A, Goetzl L, Marks MS and Guttentag SH. TITLE AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells JOURNAL Proc Natl Acad Sci U S A 118 (20) (2021) PUBMED 33990468 REFERENCE 4 (residues 1 to 1164) AUTHORS Yap YT, Li YH, Li W, Banerjee P and Zhang Z. TITLE ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility JOURNAL Mol Reprod Dev 88 (5), 371-375 (2021) PUBMED 33821543 REMARK GeneRIF: ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility. REFERENCE 5 (residues 1 to 1164) AUTHORS Jing W, Yabas M, Broer A, Coupland L, Gardiner EE, Enders A and Broer S. TITLE Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets JOURNAL Blood Adv 3 (3), 219-229 (2019) PUBMED 30674456 REMARK GeneRIF: ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation. REFERENCE 6 (residues 1 to 1164) AUTHORS Wang L, Beserra C and Garbers DL. TITLE A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization JOURNAL Dev Biol 267 (1), 203-215 (2004) PUBMED 14975727 REMARK GeneRIF: role in normal phospholipid distribution in the bilayer, and for normal binding, penetration, and signaling by the zona pellucida REFERENCE 7 (residues 1 to 1164) AUTHORS Ding J, Wu Z, Crider BP, Ma Y, Li X, Slaughter C, Gong L and Xie XS. TITLE Identification and functional expression of four isoforms of ATPase II, the putative aminophospholipid translocase. Effect of isoform variation on the ATPase activity and phospholipid specificity JOURNAL J Biol Chem 275 (30), 23378-23386 (2000) PUBMED 10801890 REFERENCE 8 (residues 1 to 1164) AUTHORS Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S and Wada K. TITLE YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes JOURNAL Genomics 66 (3), 333-336 (2000) PUBMED 10873389 REFERENCE 9 (residues 1 to 1164) AUTHORS Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P and Schlegel RA. TITLE Differential expression of putative transbilayer amphipath transporters JOURNAL Physiol Genomics 1 (3), 139-150 (1999) PUBMED 11015572 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 1164) AUTHORS Halleck MS, Pradhan D, Blackman C, Berkes C, Williamson P and Schlegel RA. TITLE Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs JOURNAL Genome Res 8 (4), 354-361 (1998) PUBMED 9548971 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK151709.1, AK045367.1, BC094235.1 and AC123662.13. Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK220560.1, SRR10223970.7559.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1164 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 36.15 cM" Protein 1..1164 /product="phospholipid-transporting ATPase IA isoform a" /EC_number="7.6.2.1" /note="probable phospholipid-transporting ATPase IA; chromaffin granule ATPase II; ATPase class I type 8A member 1; ATPase 8A1, p type; ATPase 8A1, aminophospholipid transporter (APLT), class I; P4-ATPase flippase complex alpha subunit ATP8A1; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" /calculated_mol_wt=131283 Site 25 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 28 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 29 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Region 49..1086 /region_name="ATPase-Plipid" /note="phospholipid-translocating P-type ATPase, flippase; TIGR01652" /db_xref="CDD:273734" Site 76..96 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 139 /site_type="cleavage" /note="Cleavage, by calpain. /evidence=ECO:0000305|PubMed:30674456; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 298..318 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 340..360 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 352 /site_type="other" /note="Involved in the recognition of the lipid substrate on the exoplasmic side. /evidence=ECO:0000250|UniProtKB:C7EXK4; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 357 /site_type="other" /note="Involved in the release of the transported lipid into the cytosolic leaflet. /evidence=ECO:0000250|UniProtKB:C7EXK4; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 443 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 867..887 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 891..911 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 940..960 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 978..998 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1009..1029 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1045..1065 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70704.2)" Site 1126 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70704.2)" CDS 1..1164 /gene="Atp8a1" /gene_synonym="APLT; Atp3a2; B230107D19Rik; ClassI" /coded_by="NM_001038999.2:222..3716" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS39104.1" /db_xref="GeneID:11980" /db_xref="MGI:MGI:1330848" ORIGIN 1 mptmrrtvse irsraegyek tddvsektsl adqeevrtif inqpqltkfc nnhvstakyn 61 vitflprfly sqfrraansf flfiallqqi pdvsptgryt tlvpllfila vaaikeiied 121 ikrhkadnav nkkqtqvlrn gaweivhwek vavgeivkvt ngehlpadll slsssepqam 181 cyietsnldg etnlkirqgl patsdikdid slmrisgrie cespnrhlyd fvgnirldgh 241 gtvplgadqi llrgaqlrnt qwvhgivvyt ghdtklmqns tspplklsnv eritnvqili 301 lfciliamsl vcsvgsaiwn rrhsgkdwyl hlhyggasnf glnfltfiil fnnlipisll 361 vtlevvkftq ayfinwdldm hyeptdtaam artsnlneel gqvkyifsdk tgtltcnvmq 421 fkkctiagva yghvpepedy gcspdewqss qfgdektfnd pslldnlqnn hptapiicef 481 ltmmavchta vperegdkii yqaaspdega lvraakqlnf vftgrtpdsv iidslgqeer 541 yellnvleft sarkrmsvvv rtpsgklrly ckgadtviye rlaetskyke itlkhleqfa 601 teglrtlcfa vaeisesdfe ewravyhras tsvqnrllkl eesyeliekn lqllgataie 661 dklqdqvpet ietlmkadik iwiltgdkqe tainighscr llkrnmgmiv inegsldgtr 721 etlsrhcttl gdalrkendf aliidgktlk yaltfgvrqy fldlalscka viccrvsplq 781 ksevvemvkk qvkvitlaig dgandvsmiq tahvgvgisg neglqaanss dysiaqfkyl 841 knllmvhgaw nynrvskcil ycfyknivly iieiwfafvn gfsgqilfer wciglynvmf 901 tamppltlgi ferscrkenm lkypelykts qnaldfntkv fwvhclnglf hsvilfwfpl 961 kalqygtvfg ngktsdylll gnfvytfvvi tvclkaglet sywtwfshia iwgsialwvv 1021 ffgiysslwp avpmapdmsg eaamlfssgv fwvgllsipv asllldvlyk vikrtafktl 1081 vdevqeleak sqdpgavvlg kslteraqll knvfkknhvn lyrseslqqn llhgyafsqd 1141 engivsqsev iraydttkqr pdew // LOCUS NP_001278099 706 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform g [Mus musculus]. ACCESSION NP_001278099 XP_006498954 VERSION NP_001278099.1 DBSOURCE REFSEQ: accession NM_001291170.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 706) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 706) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 706) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 706) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 706) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 706) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 706) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 706) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 706) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 706) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887589.1, EU887585.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498954.1. Transcript Variant: This variant (7, also known as IA-IIS-deltaXa) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (g) is shorter at the N-terminus, compared to isoform a. Both variants 7 and 14 encode isoform g. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887589.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..706 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..706 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform g" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=76835 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..458 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(382,446) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..706 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291170.1:203..2323" /note="isoform g is encoded by transcript variant 7" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttdgq qiwemeatvd kdksqpnmlf 421 veipeyrnkh irvpvkvnfy vingkrkrsq pqhftyhpvp aiktepsdey epslicspah 481 gglgsqpyyp qhpmlaesps clvatmapcq qfrsglsspd aryqqqspaa alyqrsksls 541 pgllgyqqps llaaplglad ahrsvlvhag sqgqgqgstl phtssasqqa spvihysptn 601 qqlrggghqe fqhimycenf gpssarpgpp pinqgqrlsp gayptviqqq tapsqraakn 661 gpsdqkealp tgvtvkqeqn ldqtylddvn eiirkefsgp psrnqt // LOCUS NP_062263 462 aa linear ROD 09-OCT-2023 DEFINITION prelamin-A/C isoform C2 [Mus musculus]. ACCESSION NP_062263 VERSION NP_062263.1 DBSOURCE REFSEQ: accession NM_019390.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 462) AUTHORS Kim JR, Kim PH, Presnell A, Tu Y and Young SG. TITLE Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice JOURNAL Nucleus 14 (1), 2262308 (2023) PUBMED 37754663 REMARK GeneRIF: Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice. REFERENCE 2 (residues 1 to 462) AUTHORS Chang L, Huang R, Chen J, Li G, Shi G, Xu B and Wang L. TITLE An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration JOURNAL BMC Med Genomics 16 (1), 229 (2023) PUBMED 37784143 REMARK GeneRIF: An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration. Publication Status: Online-Only REFERENCE 3 (residues 1 to 462) AUTHORS Pruvost M, Patzig J, Yattah C, Selcen I, Hernandez M, Park HJ, Moyon S, Liu S, Morioka MS, Shopland L, Al-Dalahmah O, Bendl J, Fullard JF, Roussos P, Goldman J, He Y, Dupree JL and Casaccia P. TITLE The stability of the myelinating oligodendrocyte transcriptome is regulated by the nuclear lamina JOURNAL Cell Rep 42 (8), 112848 (2023) PUBMED 37515770 REFERENCE 4 (residues 1 to 462) AUTHORS Jahn D, Schramm S, Benavente R and Alsheimer M. TITLE Dynamic properties of meiosis-specific lamin C2 and its impact on nuclear envelope integrity JOURNAL Nucleus 1 (3), 273-283 (2010) PUBMED 21327075 REMARK GeneRIF: lamin C2 as a 'natural lamin deletion mutant' that confers unique properties to the nuclear envelope which would be essential for dynamic telomere repositioning during meiotic prophase I REFERENCE 5 (residues 1 to 462) AUTHORS Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, Stewart CL and Burke B. TITLE Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy JOURNAL J Cell Biol 147 (5), 913-920 (1999) PUBMED 10579712 REFERENCE 6 (residues 1 to 462) AUTHORS Eggert M, Radomski N, Tripier D, Traub P and Jost E. TITLE Identification of phosphorylation sites on murine nuclear lamin C by RP-HPLC and microsequencing JOURNAL FEBS Lett 292 (1-2), 205-209 (1991) PUBMED 1959608 REFERENCE 7 (residues 1 to 462) AUTHORS Weber K, Plessmann U and Traub P. TITLE Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina JOURNAL FEBS Lett 257 (2), 411-414 (1989) PUBMED 2583287 REFERENCE 8 (residues 1 to 462) AUTHORS Riedel W and Werner D. TITLE Nucleotide sequence of the full-length mouse lamin C cDNA and its deduced amino-acid sequence JOURNAL Biochim Biophys Acta 1008 (1), 119-122 (1989) PUBMED 2719959 REFERENCE 9 (residues 1 to 462) AUTHORS Rober RA, Weber K and Osborn M. TITLE Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study JOURNAL Development 105 (2), 365-378 (1989) PUBMED 2680424 REFERENCE 10 (residues 1 to 462) AUTHORS Houliston E, Guilly MN, Courvalin JC and Maro B. TITLE Expression of nuclear lamins during mouse preimplantation development JOURNAL Development 102 (2), 271-278 (1988) PUBMED 3046911 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC145168.5, BY140664.1 and AC102388.7. Summary: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]. Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (C2) has distinct N- and C-termini and is shorter than isoform A. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D14850.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..462 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 38.84 cM" Protein 1..462 /product="prelamin-A/C isoform C2" /note="prelamin-A/C; lamin-A/C; lamin C" /calculated_mol_wt=52521 Region 5..274 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:425436" Region 322..429 /region_name="LTD" /note="Lamin Tail Domain; pfam00932" /db_xref="CDD:425951" CDS 1..462 /gene="Lmna" /gene_synonym="Dhe" /coded_by="NM_019390.3:57..1445" /note="isoform C2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS38483.1" /db_xref="GeneID:16905" /db_xref="MGI:MGI:96794" ORIGIN 1 mgnaegrntk kegdllaaqa rlkdlealln skeaalstal sekrtlegel hdlrgqvakl 61 eaalgeakkq lqdemlrrvd aenrlqtlke eldfqkniys eelretkrrh etrlveidng 121 kqrefesrla dalqelraqh edqveqykke lektysakld narqsaerns nlvgaaheel 181 qqsriridsl saqlsqlqkq laakeaklrd ledslarerd tsrrllaeke remaemrarm 241 qqqldeyqel ldiklaldme ihayrklleg eeerlrlsps ptsqrsrgra sshssqsqgg 301 gsvtkkrkle ssesrssfsq hartsgrvav eevdeegkfv rlrnksnedq smgnwqirrq 361 ngddplmtyr fppkftlkag qvvtiwasga gathspptdl vwkaqntwgc gsslrtalin 421 stgeevamrk lvrsltmved nedddedgee llhhhrvsgs rr // LOCUS NP_035393 1082 aa linear ROD 09-OCT-2023 DEFINITION RE1-silencing transcription factor [Mus musculus]. ACCESSION NP_035393 VERSION NP_035393.2 DBSOURCE REFSEQ: accession NM_011263.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1082) AUTHORS Carvalho LB, Dos Santos Sanna PL, Dos Santos Afonso CC, Bondan EF, da Silva Feltran G, Ferreira MR, Birbrair A, Andia DC, Latini A and Foganholi da Silva RA. TITLE MicroRNA biogenesis machinery activation and lncRNA and REST overexpression as neuroprotective responses to fight inflammation in the hippocampus JOURNAL J Neuroimmunol 382, 578149 (2023) PUBMED 37481910 REMARK GeneRIF: MicroRNA biogenesis machinery activation and lncRNA and REST overexpression as neuroprotective responses to fight inflammation in the hippocampus. REFERENCE 2 (residues 1 to 1082) AUTHORS Yamato E. TITLE Aberrant Expression of Rest4 Gene in Low-Functioning Pancreatic Beta Cell Line JOURNAL Horm Metab Res 55 (6), 426-431 (2023) PUBMED 36758614 REMARK GeneRIF: Aberrant Expression of Rest4 Gene in Low-Functioning Pancreatic Beta Cell Line. REFERENCE 3 (residues 1 to 1082) AUTHORS Karapurkar JK, Kim MS, Colaco JC, Suresh B, Sarodaya N, Kim DH, Park CH, Hong SH, Kim KS and Ramakrishna S. TITLE CRISPR/Cas9-based genome-wide screening of the deubiquitinase subfamily identifies USP3 as a protein stabilizer of REST blocking neuronal differentiation and promotes neuroblastoma tumorigenesis JOURNAL J Exp Clin Cancer Res 42 (1), 121 (2023) PUBMED 37170124 REMARK GeneRIF: CRISPR/Cas9-based genome-wide screening of the deubiquitinase subfamily identifies USP3 as a protein stabilizer of REST blocking neuronal differentiation and promotes neuroblastoma tumorigenesis. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1082) AUTHORS Rigkou A, Magyar A, Speer JM and Roussa E. TITLE TGF-beta2 Regulates Transcription of the K+/Cl- Cotransporter 2 (KCC2) in Immature Neurons and Its Phosphorylation at T1007 in Differentiated Neurons JOURNAL Cells 11 (23), 3861 (2022) PUBMED 36497119 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1082) AUTHORS Cloud AS, Koohestani F, McWilliams MM, Ganeshkumar S, Gunewardena S, Graham A, Nothnick WB and Chennathukuzhi VM. TITLE Loss of the repressor REST affects progesterone receptor function and promotes uterine leiomyoma pathogenesis JOURNAL Proc Natl Acad Sci U S A 119 (44), e2205524119 (2022) PUBMED 36282915 REMARK GeneRIF: Loss of the repressor REST affects progesterone receptor function and promotes uterine leiomyoma pathogenesis. REFERENCE 6 (residues 1 to 1082) AUTHORS Edlund T and Jessell TM. TITLE Progression from extrinsic to intrinsic signaling in cell fate specification: a view from the nervous system JOURNAL Cell 96 (2), 211-224 (1999) PUBMED 9988216 REMARK Review article REFERENCE 7 (residues 1 to 1082) AUTHORS Ko MS, Threat TA, Wang X, Horton JH, Cui Y, Wang X, Pryor E, Paris J, Wells-Smith J, Kitchen JR, Rowe LB, Eppig J, Satoh T, Brant L, Fujiwara H, Yotsumoto S and Nakashima H. TITLE Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome JOURNAL Hum Mol Genet 7 (12), 1967-1978 (1998) PUBMED 9811942 REFERENCE 8 (residues 1 to 1082) AUTHORS Chen ZF, Paquette AJ and Anderson DJ. TITLE NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis JOURNAL Nat Genet 20 (2), 136-142 (1998) PUBMED 9771705 REFERENCE 9 (residues 1 to 1082) AUTHORS Chong JA, Tapia-Ramirez J, Kim S, Toledo-Aral JJ, Zheng Y, Boutros MC, Altshuller YM, Frohman MA, Kraner SD and Mandel G. TITLE REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons JOURNAL Cell 80 (6), 949-957 (1995) PUBMED 7697725 REFERENCE 10 (residues 1 to 1082) AUTHORS Schoenherr CJ and Anderson DJ. TITLE The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes JOURNAL Science 267 (5202), 1360-1363 (1995) PUBMED 7871435 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK004945.2, BC127065.1, BE132774.1 and AI121875.1. On Jul 24, 2009 this sequence version replaced NP_035393.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK004945.2, AK156514.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1082 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 41.61 cM" Protein 1..1082 /product="RE1-silencing transcription factor" /note="neural-restrictive silencer factor" /calculated_mol_wt=117653 Region 32..117 /region_name="Interaction with SIN3A. /evidence=ECO:0000250|UniProtKB:Q13127" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region 43..57 /region_name="Interaction with SIN3B. /evidence=ECO:0000250|UniProtKB:Q13127" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region 140..413 /region_name="Interaction with ZFP90. /evidence=ECO:0000250|UniProtKB:Q13127" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region 196..207 /region_name="Required for binding to the neuron-restrictive silencer element. /evidence=ECO:0000269|PubMed:11039732" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region 245..265 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <266..409 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 273..293 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(278,280,282,284..285,288..289,292,306,308,312..313, 316..317,320,334,336,338,340..341,344..345,349) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 285..310 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 299..323 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 301..321 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 313..338 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 329..350 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 386..402 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 408..809 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region <607..776 /region_name="PRK12323" /note="DNA polymerase III subunit gamma/tau" /db_xref="CDD:237057" Region 831..1027 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Site 950 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O54963; propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" Region 985..1063 /region_name="Interaction with RCOR1. /evidence=ECO:0000250|UniProtKB:Q13127" /note="propagated from UniProtKB/Swiss-Prot (Q8VIG1.2)" CDS 1..1082 /gene="Rest" /gene_synonym="2610008J04Rik; NRSF; REST4" /coded_by="NM_011263.2:305..3553" /db_xref="CCDS:CCDS19372.1" /db_xref="GeneID:19712" /db_xref="MGI:MGI:104897" ORIGIN 1 matqvmgqss gggslfnnsa nmgmaltndm ydlhelskae laapqlimla nvaltgeasg 61 sccdylvgee rqmaelmpvg dnhfsesege gleesadlkg lenmelgsle lsavepqpvf 121 easaapeiys ankdpapetp vaedkcrssk akpfrckpcq yeaeseeqfv hhirihsakk 181 ffveesaekq akawesgssp aeegefskgp ircdrcgynt nrydhymahl khhlragene 241 riykciicty ttvseyhwrk hlrnhfprkv ytcskcnyfs drknnyvqhv rthtgerpyk 301 celcpysssq kthltrhmrt hsgekpfkcd qcnyvasnqh evtrharqvh ngpkplncph 361 cdyktadrsn fkkhvelhvn prqfncpvcd yaaskkcnlq yhfkskhptc psktmdvskv 421 klkktkkrea dllnnavsne kmeneqtktk gdvsgkknek pvkavgkdas kekkpgssvs 481 vvqvttrtrk savaaetkaa evkhtdgqtg nnpekpckak knkrkkdaea hpseepvneg 541 pvtkkkkkse ckskigtnvp kgggraeerp gvkkqsaslk kgtkktppkt ktskkggkla 601 pkgmgqteps sgalaqvgvs pdpaliqaev tgsgssqtel pspmdiakse paqmevsltg 661 pppvepaqme pspakppqve aptypqppqr gpapptgpap ptgpapptep apptglaeme 721 psptepsqke pppsmeppcp eelpqaeppp medcqkelps pvepaqieva qtaptqvqee 781 pppvsepprv kptkrsslrk draekelsll semarqeqvl mgvglvpvrd skllkgnksa 841 qdppappsps pkgnsreetp kdqemvsdge gtivfplkkg gpeeagespa elaalkesar 901 vssseqnsam peggashskc qtgssglcdv dteqktdtvp mkdsaaepvs pptptvdrda 961 gspavvaspp itlaenesqe idedegihsh dgsdlsdnms egsddsglhg arptppeats 1021 kngkaglagk vtegefvcif cdrsfrkekd yskhlnrhlv nvyfleeaae eqeeqeeree 1081 qe // LOCUS NP_034350 456 aa linear ROD 09-OCT-2023 DEFINITION peptidyl-prolyl cis-trans isomerase FKBP5 [Mus musculus]. ACCESSION NP_034350 VERSION NP_034350.1 DBSOURCE REFSEQ: accession NM_010220.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 456) AUTHORS Song Q, Song C, Chen X, Xiong Y, Li L, Liao W, Xue L and Yang S. TITLE FKBP5 deficiency attenuates calcium oxalate kidney stone formation by suppressing cell-crystal adhesion, apoptosis and macrophage M1 polarization via inhibition of NF-kappaB signaling JOURNAL Cell Mol Life Sci 80 (10), 301 (2023) PUBMED 37740796 REMARK GeneRIF: FKBP5 deficiency attenuates calcium oxalate kidney stone formation by suppressing cell-crystal adhesion, apoptosis and macrophage M1 polarization via inhibition of NF-kappaB signaling. Publication Status: Online-Only REFERENCE 2 (residues 1 to 456) AUTHORS Wang X, Song J, Yuan Y, Li L, Abu-Taha I, Heijman J, Sun L, Dobrev S, Kamler M, Xie L, Wehrens XHT, Horrigan FT, Dobrev D and Li N. TITLE Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis JOURNAL Circ Res 133 (1), e1-e16 (2023) PUBMED 37154033 REMARK GeneRIF: Downregulation of FKBP5 Promotes Atrial Arrhythmogenesis. REFERENCE 3 (residues 1 to 456) AUTHORS Brix LM, Toksoz I, Aman L, Kovarova V, Springer M, Bordes J, van Doeselaar L, Engelhardt C, Hausl AS, Narayan S, Sterlemann V, Yang H, Deussing JM and Schmidt MV. TITLE Contribution of the co-chaperone FKBP51 in the ventromedial hypothalamus to metabolic homeostasis in male and female mice JOURNAL Mol Metab 65, 101579 (2022) PUBMED 36007872 REMARK GeneRIF: Contribution of the co-chaperone FKBP51 in the ventromedial hypothalamus to metabolic homeostasis in male and female mice. REFERENCE 4 (residues 1 to 456) AUTHORS Bajaj T, Hausl AS, Schmidt MV and Gassen NC. TITLE FKBP5/FKBP51 on weight watch: central FKBP5 links regulatory WIPI protein networks to autophagy and metabolic control JOURNAL Autophagy 18 (11), 2756-2758 (2022) PUBMED 35438043 REMARK GeneRIF: FKBP5/FKBP51 on weight watch: central FKBP5 links regulatory WIPI protein networks to autophagy and metabolic control. REFERENCE 5 (residues 1 to 456) AUTHORS Gan YL, Wang CY, He RH, Hsu PC, Yeh HH, Hsieh TH, Lin HC, Cheng MY, Jeng CJ, Huang MC and Lee YH. TITLE FKBP51 mediates resilience to inflammation-induced anxiety through regulation of glutamic acid decarboxylase 65 expression in mouse hippocampus JOURNAL J Neuroinflammation 19 (1), 152 (2022) PUBMED 35705957 REMARK GeneRIF: FKBP51 mediates resilience to inflammation-induced anxiety through regulation of glutamic acid decarboxylase 65 expression in mouse hippocampus. Publication Status: Online-Only REFERENCE 6 (residues 1 to 456) AUTHORS Wang HY, Arden KC, Bermingham JR Jr, Viars CS, Lin W, Boyer AD and Fu XD. TITLE Localization of serine kinases, SRPK1 (SFRSK1) and SRPK2 (SFRSK2), specific for the SR family of splicing factors in mouse and human chromosomes JOURNAL Genomics 57 (2), 310-315 (1999) PUBMED 10198174 REFERENCE 7 (residues 1 to 456) AUTHORS Nair SC, Rimerman RA, Toran EJ, Chen S, Prapapanich V, Butts RN and Smith DF. TITLE Molecular cloning of human FKBP51 and comparisons of immunophilin interactions with Hsp90 and progesterone receptor JOURNAL Mol Cell Biol 17 (2), 594-603 (1997) PUBMED 9001212 REFERENCE 8 (residues 1 to 456) AUTHORS Yeh WC, Li TK, Bierer BE and McKnight SL. TITLE Identification and characterization of an immunophilin expressed during the clonal expansion phase of adipocyte differentiation JOURNAL Proc Natl Acad Sci U S A 92 (24), 11081-11085 (1995) PUBMED 7479941 REFERENCE 9 (residues 1 to 456) AUTHORS Baughman G, Wiederrecht GJ, Campbell NF, Martin MM and Bourgeois S. TITLE FKBP51, a novel T-cell-specific immunophilin capable of calcineurin inhibition JOURNAL Mol Cell Biol 15 (8), 4395-4402 (1995) PUBMED 7542743 REFERENCE 10 (residues 1 to 456) AUTHORS Baughman G, Harrigan MT, Campbell NF, Nurrish SJ and Bourgeois S. TITLE Genes newly identified as regulated by glucocorticoids in murine thymocytes JOURNAL Mol Endocrinol 5 (5), 637-644 (1991) PUBMED 2072923 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY740772.1, BU613862.1, CF949740.1 and AC154912.3. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U16959.1, SRR7974084.6335.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..456 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 14.66 cM" Protein 1..456 /product="peptidyl-prolyl cis-trans isomerase FKBP5" /EC_number="5.2.1.8" /note="rotamase; 51 kDa FK506-binding protein; 51 kDa FKBP; PPIase FKBP5" /calculated_mol_wt=50835 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q64378.1)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q13451; propagated from UniProtKB/Swiss-Prot (Q64378.1)" Site 28 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q13451; propagated from UniProtKB/Swiss-Prot (Q64378.1)" Region 44..135 /region_name="FKBP_C" /note="FKBP-type peptidyl-prolyl cis-trans isomerase; pfam00254" /db_xref="CDD:425560" Site 155 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q13451; propagated from UniProtKB/Swiss-Prot (Q64378.1)" Region <230..>397 /region_name="3a0801s09" /note="mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70); TIGR00990" /db_xref="CDD:273380" Region 268..301 /region_name="TPR 1" /note="propagated from UniProtKB/Swiss-Prot (Q64378.1)" Region 268..296 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 317..350 /region_name="TPR 2" /note="propagated from UniProtKB/Swiss-Prot (Q64378.1)" Region 319..345 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(321..322,325..326,328,352,355..356,359..360, 362..363,386,389..390,393..394,397) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region 350..380 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 351..384 /region_name="TPR 3" /note="propagated from UniProtKB/Swiss-Prot (Q64378.1)" Region 421..456 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q64378.1)" Site 444 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13451; propagated from UniProtKB/Swiss-Prot (Q64378.1)" CDS 1..456 /gene="Fkbp5" /gene_synonym="D17Ertd592e; Dit1; FKBP-5; FKBP51" /coded_by="NM_010220.4:220..1590" /db_xref="CCDS:CCDS37528.1" /db_xref="GeneID:14229" /db_xref="MGI:MGI:104670" ORIGIN 1 mttdegtsnn genpaatmte qgedittkkd rgvlkivkrv gtsdeapmfg dkvyvhykgm 61 lsdgkkfdss hdrkkpfafs lgqgqvikaw digvstmkkg eichllckpe yaygsaghlq 121 kipsnatlff eielldfkge dlfedsgvir rikrkgegys npnegatvkv hlegccggrt 181 fdcrdvvfvv gegedhdipi gidkalvkmq reeqcilylg prygfgeagk pkfgidpnae 241 lmyevtlksf ekakeswemd tkekltqaai vkekgtvyfk ggkytqaviq yrkivswlem 301 eyglsekesk asesfllaaf lnlamcylkl reynkavecc dkalgldsan ekglyrrgea 361 qllmndfesa kgdfekvlav npqnraarlq ismcqrkake hnerdrrvya nmfkkfaerd 421 akeeaskags kkavegaagk qhesqameeg kakghv // LOCUS NP_001076589 785 aa linear ROD 09-OCT-2023 DEFINITION protein enabled homolog isoform 3 [Mus musculus]. ACCESSION NP_001076589 VERSION NP_001076589.1 DBSOURCE REFSEQ: accession NM_001083120.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 785) AUTHORS Yun S, Cha SS and Kim JH. TITLE DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled JOURNAL Adv Biol Regul 88, 100943 (2023) PUBMED 36542983 REMARK GeneRIF: DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled. REFERENCE 2 (residues 1 to 785) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 3 (residues 1 to 785) AUTHORS Borriello L, Coste A, Traub B, Sharma VP, Karagiannis GS, Lin Y, Wang Y, Ye X, Duran CL, Chen X, Friedman M, Sosa MS, Sun D, Dalla E, Singh DK, Oktay MH, Aguirre-Ghiso JA, Condeelis JS and Entenberg D. TITLE Primary tumor associated macrophages activate programs of invasion and dormancy in disseminating tumor cells JOURNAL Nat Commun 13 (1), 626 (2022) PUBMED 35110548 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 785) AUTHORS Hooper JE, Jones KL, Smith FJ, Williams T and Li H. TITLE An Alternative Splicing Program for Mouse Craniofacial Development JOURNAL Front Physiol 11, 1099 (2020) PUBMED 33013468 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 785) AUTHORS Lee S, Sears MJ, Zhang Z, Li H, Salhab I, Krebs P, Xing Y, Nah HD, Williams T and Carstens RP. TITLE Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk JOURNAL Development 147 (21) (2020) PUBMED 32253237 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 785) AUTHORS Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T and Sudol M. TITLE The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled JOURNAL J Biol Chem 272 (52), 32869-32877 (1997) PUBMED 9407065 REFERENCE 7 (residues 1 to 785) AUTHORS Bedford MT, Chan DC and Leder P. TITLE FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands JOURNAL EMBO J 16 (9), 2376-2383 (1997) PUBMED 9171351 REFERENCE 8 (residues 1 to 785) AUTHORS Yamabhai M and Kay BK. TITLE Examining the specificity of Src homology 3 domain--ligand interactions with alkaline phosphatase fusion proteins JOURNAL Anal Biochem 247 (1), 143-151 (1997) PUBMED 9126384 REFERENCE 9 (residues 1 to 785) AUTHORS Gertler FB, Niebuhr K, Reinhard M, Wehland J and Soriano P. TITLE Mena, a relative of VASP and Drosophila Enabled, is implicated in the control of microfilament dynamics JOURNAL Cell 87 (2), 227-239 (1996) PUBMED 8861907 REFERENCE 10 (residues 1 to 785) AUTHORS Sazuka T, Tomooka Y, Kathju S, Ikawa Y, Noda M and Kumar S. TITLE Identification of a developmentally regulated gene in the mouse central nervous system which encodes a novel proline rich protein JOURNAL Biochim Biophys Acta 1132 (3), 240-248 (1992) PUBMED 1420303 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122204.3 and AC165229.7. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U72521.1, SRR7974084.11762.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164141 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..785 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 84.93 cM" Protein 1..785 /product="protein enabled homolog isoform 3" /note="protein enabled homolog; NPC derived proline rich protein 1" /calculated_mol_wt=83854 Region 5..112 /region_name="EVH1_Ena_VASP-like" /note="Enabled/VASP family EVH1 domain; cd01207" /db_xref="CDD:269918" Site order(16,23,69,71,77,79,81) /site_type="other" /note="proline-rich peptide binding site [polypeptide binding]" /db_xref="CDD:269918" Region <302..522 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 600..626 /region_name="WH2_hVASP-like" /note="Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins; cd22185" /db_xref="CDD:409225" Site order(607..608,610..611,614,616..620) /site_type="other" /note="actin-binding motif [polypeptide binding]" /db_xref="CDD:409225" Region 616..619 /region_name="actin-binding sequence" /note="actin-binding sequence [structural motif]" /db_xref="CDD:409225" Region 746..781 /region_name="VASP_tetra" /note="VASP tetramerisation domain; pfam08776" /db_xref="CDD:430211" CDS 1..785 /gene="Enah" /gene_synonym="Mena; NDPP-1; Ndpp1; WBP8" /coded_by="NM_001083120.3:449..2806" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS48473.1" /db_xref="GeneID:13800" /db_xref="MGI:MGI:108360" ORIGIN 1 mseqsicqar aavmvyddan kkwvpaggst gfsrvhiyhh tgnntfrvvg rkiqdhqvvi 61 ncaipkglky nqatqtfhqw rdarqvygln fgskedanvf asammhalev lnsqeagptl 121 prqnsqlpaq vqngpsqeel eiqrrqlqeq qrqkelerer mererlerer lererlerer 181 leqeqlerqr qerehverle rerlerlere rqerererle qlereqvewe rerrmsnaap 241 ssdsslssap lpeysscqpp sapppsyakv isapvsdatp dyavvtalpp tstpptpplr 301 haatrfatsl gsafhpvlph yatvprplnk nsrpsspvnt pssqppaaks cawptsnfsp 361 lppsppimis sppgkatgpr pvlpvcvssp vpqmppspta pngsldsvty pvsppptsgp 421 aapppppppp pppppppppl pppplpplas lshcgsqasp ppgtplastp sskpsvlpsp 481 saaapasaet plnpelgdss asepglqaas qpaesptpqg lvlgppappp ppplpsgpay 541 asalppppgp ppppplpstg pppppppppp lpnqappppp pppapplpas gifsgstsed 601 nrpltglaaa iagaklrkvs rvedgsfpgg gntgsvslas skadagrgng plplggsglm 661 eemsallarr rriaekgsti eteqkedrne daepitakap ststpeptrk pwertntmng 721 skspvisrpk stpssqpsan gvqtegldyd rlkqdildem rkelaklkee lidairqels 781 ksnta // LOCUS NP_001345853 735 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 2 [Mus musculus]. ACCESSION NP_001345853 XP_017168046 VERSION NP_001345853.1 DBSOURCE REFSEQ: accession NM_001358924.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 735) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 735) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 735) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 735) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 735) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 735) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 735) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 735) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 735) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 735) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. On Dec 13, 2017 this sequence version replaced XP_017168046.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13948564.1288730.1, SRR14777531.548209.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..735 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..735 /product="transcriptional repressor CTCF isoform 2" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83486 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(268,271,284,288) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(469,472,485,489) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 698..725 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..735 /gene="Ctcf" /coded_by="NM_001358924.2:327..2534" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqptaiiq vedqntgaie niivevkkep daepaegeee eaqaattdap 721 ngdltpemil smmdr // LOCUS NP_032515 481 aa linear ROD 09-OCT-2023 DEFINITION lipopolysaccharide-binding protein precursor [Mus musculus]. ACCESSION NP_032515 VERSION NP_032515.2 DBSOURCE REFSEQ: accession NM_008489.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 481) AUTHORS Xie L, Qiu S, Lu C, Gu C, Wang J, Lv J, Fang L, Chen Z, Li Y, Jiang T, Xia Y, Wang W, Li B and Xu Z. TITLE Gastric cancer-derived LBP promotes liver metastasis by driving intrahepatic fibrotic pre-metastatic niche formation JOURNAL J Exp Clin Cancer Res 42 (1), 258 (2023) PUBMED 37789385 REMARK GeneRIF: Gastric cancer-derived LBP promotes liver metastasis by driving intrahepatic fibrotic pre-metastatic niche formation. Publication Status: Online-Only REFERENCE 2 (residues 1 to 481) AUTHORS Yin X, Xu Z, Zhang X, Wu J and Lu W. TITLE Deficiency of lipopolysaccharide binding protein facilitates adipose browning, glucose uptake and oxygen consumption in mouse embryonic fibroblasts via activating PI3K/Akt/mTOR pathway and inhibiting autophagy JOURNAL Cell Cycle 22 (8), 967-985 (2023) PUBMED 36710409 REMARK GeneRIF: Deficiency of lipopolysaccharide binding protein facilitates adipose browning, glucose uptake and oxygen consumption in mouse embryonic fibroblasts via activating PI3K/Akt/mTOR pathway and inhibiting autophagy. REFERENCE 3 (residues 1 to 481) AUTHORS Milbank E, Diaz-Trelles R, Dragano N, Latorre J, Mukthavaram R, Mayneris-Perxachs J, Ortega F, Federici M, Burcelin R, Karmali PP, Tachikawa K, Chivukula P, Lopez M, Fernandez-Real JM and Moreno-Navarrete JM. TITLE Liver lipopolysaccharide binding protein prevents hepatic inflammation in physiological and pathological non-obesogenic conditions JOURNAL Pharmacol Res 187, 106562 (2023) PUBMED 36410673 REMARK GeneRIF: Liver lipopolysaccharide binding protein prevents hepatic inflammation in physiological and pathological non-obesogenic conditions. REFERENCE 4 (residues 1 to 481) AUTHORS Jin CJ, Baumann A, Brandt A, Engstler AJ, Nier A, Hege M, Schmeer C, Kehm R, Hohn A, Grune T, Witte OW and Bergheim I. TITLE Aging-related liver degeneration is associated with increased bacterial endotoxin and lipopolysaccharide binding protein levels JOURNAL Am J Physiol Gastrointest Liver Physiol 318 (4), G736-G747 (2020) PUBMED 32090603 REFERENCE 5 (residues 1 to 481) AUTHORS Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray SA. CONSRTM International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center TITLE High-throughput discovery of novel developmental phenotypes JOURNAL Nature 537 (7621), 508-514 (2016) PUBMED 27626380 REMARK Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450] REFERENCE 6 (residues 1 to 481) AUTHORS Lengacher S, Reed D, Heumann D and Jongeneel CV. TITLE Genomic organization and chromosomal localization of the mouse lipopolysaccharide binding protein gene JOURNAL Immunogenetics 49 (6), 553-556 (1999) PUBMED 10380702 REFERENCE 7 (residues 1 to 481) AUTHORS Ulevitch RJ and Tobias PS. TITLE Recognition of gram-negative bacteria and endotoxin by the innate immune system JOURNAL Curr Opin Immunol 11 (1), 19-22 (1999) PUBMED 10047547 REMARK Review article REFERENCE 8 (residues 1 to 481) AUTHORS Wurfel MM, Monks BG, Ingalls RR, Dedrick RL, Delude R, Zhou D, Lamping N, Schumann RR, Thieringer R, Fenton MJ, Wright SD and Golenbock D. TITLE Targeted deletion of the lipopolysaccharide (LPS)-binding protein gene leads to profound suppression of LPS responses ex vivo, whereas in vivo responses remain intact JOURNAL J Exp Med 186 (12), 2051-2056 (1997) PUBMED 9396775 REFERENCE 9 (residues 1 to 481) AUTHORS Jack RS, Fan X, Bernheiden M, Rune G, Ehlers M, Weber A, Kirsch G, Mentel R, Furll B, Freudenberg M, Schmitz G, Stelter F and Schutt C. TITLE Lipopolysaccharide-binding protein is required to combat a murine gram-negative bacterial infection JOURNAL Nature 389 (6652), 742-745 (1997) PUBMED 9338787 REFERENCE 10 (residues 1 to 481) AUTHORS Lengacher S, Jongeneel CV, Le Roy D, Lee JD, Kravchenko V, Ulevitch RJ, Glauser MP and Heumann D. TITLE Reactivity of murine and human recombinant LPS-binding protein (LBP) within LPS and gram negative bacteria JOURNAL J Inflamm 47 (4), 165-172 (1995) PUBMED 9144073 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK143562.1, AA207419.1, BQ176753.1, AL663063.14 and AI643881.1. On Sep 1, 2006 this sequence version replaced NP_032515.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X99347.1, BC004795.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..481 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 78.72 cM" Protein 1..481 /product="lipopolysaccharide-binding protein precursor" /calculated_mol_wt=50628 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2446 Region 29..252 /region_name="BPI1" /note="BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer...; cd00025" /db_xref="CDD:237992" Site 29..35 /site_type="other" /note="BPI dimerizatation interface [polypeptide binding]" /db_xref="CDD:237992" Site order(34,39,42,46,49,101,142,144,154,201,205,209,243) /site_type="active" /note="apolar binding pocket [active]" /db_xref="CDD:237992" Region 241..478 /region_name="LBP_BPI_CETP_C" /note="LBP / BPI / CETP family, C-terminal domain; pfam02886" /db_xref="CDD:397154" Site order(277..281,461..466,472..477) /site_type="other" /note="BPI dimerization interface [polypeptide binding]" /db_xref="CDD:237993" Site order(281,286,289,293,296,356,389,391,400,436,440,444,448, 470) /site_type="active" /note="apolar binding pocket [active]" /db_xref="CDD:237993" Site 300 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61805.2)" Site 355 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61805.2)" CDS 1..481 /gene="Lbp" /gene_synonym="Bpifd2; Ly88" /coded_by="NM_008489.2:178..1623" /db_xref="CCDS:CCDS16988.1" /db_xref="GeneID:16803" /db_xref="MGI:MGI:1098776" ORIGIN 1 mkagtgplls tllgllflsi qgtggvnpgv varitdkgla yaakeglval qrelykitlp 61 dfsgdfkika vgrgqyefhs leiqncelrg sslkllpgqg lslaisdssi gvrgkwkvrk 121 sflklhgsfd ldvkgvtisv dlllgmdpsg rptvsasgcs sricdldvhi sgnvgwllnl 181 fhnqiesklq kvlenkvcem iqksvtsdlq pylqtlpvta eidnvlgidy slvaapqaka 241 qvldvmfkge ifnrnhrspv atptptmslp edskqmvyfa isdyafnias rvyhqagyln 301 fsitddmlph dsgirlntka frpftpqiyk kypdmklell gtvvsapiln vspgnlslap 361 qmeiegfvil ptsarepvfr lgvvtnvfas ltfnnskvtg mlhpdkaqvr lieskvgmfn 421 vnlfqaflny yllnslypdv naelaqgfpl plprhiqlhd ldfqirkdfl ylganvqymr 481 v // LOCUS NP_001076590 541 aa linear ROD 09-OCT-2023 DEFINITION protein enabled homolog isoform 4 [Mus musculus]. ACCESSION NP_001076590 VERSION NP_001076590.1 DBSOURCE REFSEQ: accession NM_001083121.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 541) AUTHORS Yun S, Cha SS and Kim JH. TITLE DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled JOURNAL Adv Biol Regul 88, 100943 (2023) PUBMED 36542983 REMARK GeneRIF: DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled. REFERENCE 2 (residues 1 to 541) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 3 (residues 1 to 541) AUTHORS Borriello L, Coste A, Traub B, Sharma VP, Karagiannis GS, Lin Y, Wang Y, Ye X, Duran CL, Chen X, Friedman M, Sosa MS, Sun D, Dalla E, Singh DK, Oktay MH, Aguirre-Ghiso JA, Condeelis JS and Entenberg D. TITLE Primary tumor associated macrophages activate programs of invasion and dormancy in disseminating tumor cells JOURNAL Nat Commun 13 (1), 626 (2022) PUBMED 35110548 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 541) AUTHORS Hooper JE, Jones KL, Smith FJ, Williams T and Li H. TITLE An Alternative Splicing Program for Mouse Craniofacial Development JOURNAL Front Physiol 11, 1099 (2020) PUBMED 33013468 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 541) AUTHORS Lee S, Sears MJ, Zhang Z, Li H, Salhab I, Krebs P, Xing Y, Nah HD, Williams T and Carstens RP. TITLE Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk JOURNAL Development 147 (21) (2020) PUBMED 32253237 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 541) AUTHORS Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T and Sudol M. TITLE The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled JOURNAL J Biol Chem 272 (52), 32869-32877 (1997) PUBMED 9407065 REFERENCE 7 (residues 1 to 541) AUTHORS Bedford MT, Chan DC and Leder P. TITLE FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands JOURNAL EMBO J 16 (9), 2376-2383 (1997) PUBMED 9171351 REFERENCE 8 (residues 1 to 541) AUTHORS Yamabhai M and Kay BK. TITLE Examining the specificity of Src homology 3 domain--ligand interactions with alkaline phosphatase fusion proteins JOURNAL Anal Biochem 247 (1), 143-151 (1997) PUBMED 9126384 REFERENCE 9 (residues 1 to 541) AUTHORS Gertler FB, Niebuhr K, Reinhard M, Wehland J and Soriano P. TITLE Mena, a relative of VASP and Drosophila Enabled, is implicated in the control of microfilament dynamics JOURNAL Cell 87 (2), 227-239 (1996) PUBMED 8861907 REFERENCE 10 (residues 1 to 541) AUTHORS Sazuka T, Tomooka Y, Kathju S, Ikawa Y, Noda M and Kumar S. TITLE Identification of a developmentally regulated gene in the mouse central nervous system which encodes a novel proline rich protein JOURNAL Biochim Biophys Acta 1132 (3), 240-248 (1992) PUBMED 1420303 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122204.3 and AC165229.7. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U72520.1, SRR14777535.2956229.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..541 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 84.93 cM" Protein 1..541 /product="protein enabled homolog isoform 4" /note="protein enabled homolog; NPC derived proline rich protein 1" /calculated_mol_wt=59512 Region 5..112 /region_name="EVH1_Ena_VASP-like" /note="Enabled/VASP family EVH1 domain; cd01207" /db_xref="CDD:269918" Site order(16,23,69,71,77,79,81) /site_type="other" /note="proline-rich peptide binding site [polypeptide binding]" /db_xref="CDD:269918" Region 356..382 /region_name="WH2_hVASP-like" /note="Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins; cd22185" /db_xref="CDD:409225" Site order(363..364,366..367,370,372..376) /site_type="other" /note="actin-binding motif [polypeptide binding]" /db_xref="CDD:409225" Region 372..375 /region_name="actin-binding sequence" /note="actin-binding sequence [structural motif]" /db_xref="CDD:409225" Region 502..537 /region_name="VASP_tetra" /note="VASP tetramerisation domain; pfam08776" /db_xref="CDD:430211" CDS 1..541 /gene="Enah" /gene_synonym="Mena; NDPP-1; Ndpp1; WBP8" /coded_by="NM_001083121.3:449..2074" /note="isoform 4 is encoded by transcript variant 4" /db_xref="CCDS:CCDS78764.1" /db_xref="GeneID:13800" /db_xref="MGI:MGI:108360" ORIGIN 1 mseqsicqar aavmvyddan kkwvpaggst gfsrvhiyhh tgnntfrvvg rkiqdhqvvi 61 ncaipkglky nqatqtfhqw rdarqvygln fgskedanvf asammhalev lnsqeagptl 121 prqnsqlpaq vqngpsqeel eiqrrqlqeq qrqkelerer mererlerer lererlerer 181 leqeqlerqr qerehverle rerlerlere rqerererle qlereqvewe rerrmsnaaa 241 pasaetplnp elgdssasep glqaasqpae sptpqglvlg ppappppppl psgpayasal 301 ppppgppppp plpstgpppp pppppplpnq appppppppa pplpasgifs gstsednrpl 361 tglaaaiaga klrkvsrved gsfpgggntg svslasskad agrgngplpl ggsglmeems 421 allarrrria ekgstieteq kedrnedaep itakapstst peptrkpwer tntmngsksp 481 visrpkstps sqpsangvqt egldydrlkq dildemrkel aklkeelida irqelsksnt 541 a // LOCUS NP_032939 521 aa linear ROD 09-OCT-2023 DEFINITION protein phosphatase 3 catalytic subunit alpha isoform 1 [Mus musculus]. ACCESSION NP_032939 XP_131226 VERSION NP_032939.1 DBSOURCE REFSEQ: accession NM_008913.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 521) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 2 (residues 1 to 521) AUTHORS Delint-Ramirez I, Konada L, Heady L, Rueda R, Jacome ASV, Marlin E, Marchioni C, Segev A, Kritskiy O, Yamakawa S, Reiter AH, Tsai LH and Madabhushi R. TITLE Calcineurin dephosphorylates topoisomerase IIbeta and regulates the formation of neuronal-activity-induced DNA breaks JOURNAL Mol Cell 82 (20), 3794-3809 (2022) PUBMED 36206766 REMARK GeneRIF: Calcineurin dephosphorylates topoisomerase IIbeta and regulates the formation of neuronal-activity-induced DNA breaks. REFERENCE 3 (residues 1 to 521) AUTHORS Miura E and Watanabe M. TITLE Coexpression of calcineurin A and B subunits in various subcellular and synaptic compartments of cerebellar neurons and glia with particular abundance at parallel fiber-Purkinje cell synapses JOURNAL Neurosci Res 180, 13-22 (2022) PUBMED 35247520 REMARK GeneRIF: Coexpression of calcineurin A and B subunits in various subcellular and synaptic compartments of cerebellar neurons and glia with particular abundance at parallel fiber-Purkinje cell synapses. REFERENCE 4 (residues 1 to 521) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 521) AUTHORS Sidoli M, Reed CB, Scapin C, Paez P, Cavener DR, Kaufman RJ, D'Antonio M, Feltri ML and Wrabetz L. TITLE Calcineurin Activity Is Increased in Charcot-Marie-Tooth 1B Demyelinating Neuropathy JOURNAL J Neurosci 41 (20), 4536-4548 (2021) PUBMED 33879538 REFERENCE 6 (residues 1 to 521) AUTHORS Gaestel M, Benndorf R, Hayess K, Priemer E and Engel K. TITLE Dephosphorylation of the small heat shock protein hsp25 by calcium/calmodulin-dependent (type 2B) protein phosphatase JOURNAL J Biol Chem 267 (30), 21607-21611 (1992) PUBMED 1328240 REFERENCE 7 (residues 1 to 521) AUTHORS Giri PR, Marietta CA, Higuchi S and Kincaid RL. TITLE Molecular and phylogenetic analysis of calmodulin-dependent protein phosphatase (calcineurin) catalytic subunit genes JOURNAL DNA Cell Biol 11 (5), 415-424 (1992) PUBMED 1318721 REFERENCE 8 (residues 1 to 521) AUTHORS Kincaid RL, Giri PR, Higuchi S, Tamura J, Dixon SC, Marietta CA, Amorese DA and Martin BM. TITLE Cloning and characterization of molecular isoforms of the catalytic subunit of calcineurin using nonisotopic methods JOURNAL J Biol Chem 265 (19), 11312-11319 (1990) PUBMED 2162844 REFERENCE 9 (residues 1 to 521) AUTHORS Guerini D and Klee CB. TITLE Cloning of human calcineurin A: evidence for two isozymes and identification of a polyproline structural domain JOURNAL Proc Natl Acad Sci U S A 86 (23), 9183-9187 (1989) PUBMED 2556704 REFERENCE 10 (residues 1 to 521) AUTHORS Kincaid RL, Nightingale MS and Martin BM. TITLE Characterization of a cDNA clone encoding the calmodulin-binding domain of mouse brain calcineurin JOURNAL Proc Natl Acad Sci U S A 85 (23), 8983-8987 (1988) PUBMED 2848250 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC116384.9, AC124177.2, AC129775.4 and AI835974.1. On Feb 9, 2004 this sequence version replaced XP_131226.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: J05479.1, BC138612.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..521 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 63.34 cM" Protein 1..521 /product="protein phosphatase 3 catalytic subunit alpha isoform 1" /EC_number="3.1.3.16" /note="calcineurin A alpha; protein phosphatase 3 catalytic subunit alpha; CAM-PRP catalytic subunit; PP2BA alpha; PP2B alpha 1; CNA alpha" /calculated_mol_wt=58513 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:Q08209; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 41..345 /region_name="MPP_PP2B" /note="PP2B, metallophosphatase domain; cd07416" /db_xref="CDD:277361" Site order(53,55,90,92,118,150,159,199,281,314,341) /site_type="other" /note="CN-CyPA-CsA complex [polypeptide binding]" /db_xref="CDD:277361" Region 56..340 /region_name="Catalytic. /evidence=ECO:0000305" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site order(90,92,118,122,150..151,199,232,254,281,283) /site_type="active" /db_xref="CDD:277361" Site order(90,92,118,150,199,281) /site_type="metal-binding" /note="metal binding site [ion binding]" /db_xref="CDD:277361" Region 307..311 /region_name="SAPNY motif. /evidence=ECO:0000250|UniProtKB:Q08209" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 327..336 /region_name="Interaction with PxIxIF motif in substrate. /evidence=ECO:0000250|UniProtKB:Q08209" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 341..369 /region_name="Calcineurin B binding. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 352 /site_type="other" /note="Interaction with PxVP motif in substrate. /evidence=ECO:0000250|UniProtKB:Q08209; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 392..406 /region_name="Calmodulin-binding. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 407..414 /region_name="Autoinhibitory segment. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 465..487 /region_name="Autoinhibitory domain. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 469 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P63329; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 475..521 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 492 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P63328.1)" CDS 1..521 /gene="Ppp3ca" /gene_synonym="2900074D19Rik; Caln; Calna; CN; CnA" /coded_by="NM_008913.5:779..2344" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS17860.1" /db_xref="GeneID:19055" /db_xref="MGI:MGI:107164" ORIGIN 1 msepkaidpk lsttdrvvka vpfppshrlt akevfdndgk prvdilkahl mkegrleesv 61 alriitegas ilrqeknlld idapvtvcgd ihgqffdlmk lfevggspan trylflgdyv 121 drgyfsiecv lylwalkily pktlfllrgn hecrhlteyf tfkqeckiky servydacmd 181 afdclplaal mnqqflcvhg glspeintld dirkldrfke ppaygpmcdi lwsdpledfg 241 nektqehfth ntvrgcsyfy sypavcdflq hnnllsilra heaqdagyrm yrksqttgfp 301 slitifsapn yldvynnkaa vlkyennvmn irqfncsphp ywlpnfmdvf twslpfvgek 361 vtemlvnvln icsddelgse edgfdgataa arkevirnki raigkmarvf svlreesesv 421 ltlkgltptg mlpsgvlsgg kqtlqsatve aieadeaikg fspqhkitsf eeakgldrin 481 ermpprrdam psdanlnsin kalasetngt dsngsnssni q // LOCUS NP_998825 769 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 3 isoform 2 [Mus musculus]. ACCESSION NP_998825 XP_001005155 VERSION NP_998825.1 DBSOURCE REFSEQ: accession NM_213660.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 769) AUTHORS Xiao D, Zeng T, Zhu W, Yu ZZ, Huang W, Yi H, Lu SS, Feng J, Feng XP, Wu D, Wen Q, Zhou JH, Yuan L, Zhuang W and Xiao ZQ. TITLE ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers JOURNAL Cancer Immunol Res 11 (10), 1367-1383 (2023) PUBMED 37566399 REMARK GeneRIF: ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers. REFERENCE 2 (residues 1 to 769) AUTHORS Ramos RB, Martino N, Chuy D, Lu S, Zuo MXG, Balasubramanian U, Di John Portela I, Vincent PA and Adam AP. TITLE Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium JOURNAL J Cell Sci 136 (18) (2023) PUBMED 37667913 REMARK GeneRIF: Shock drives a STAT3 and JunB-mediated coordinated transcriptional and DNA methylation response in the endothelium. REFERENCE 3 (residues 1 to 769) AUTHORS Liu L, Xu W, Li K, Hu Y, Shen L, Zhang H and Wang Y. TITLE Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway JOURNAL Arch Biochem Biophys 746, 109719 (2023) PUBMED 37591369 REMARK GeneRIF: Kv1.3 mediates ox-LDL-induced vascular smooth muscle cell proliferation through JAK2/STAT3 signaling pathway. REFERENCE 4 (residues 1 to 769) AUTHORS Xu F, Lu S, Jia X and Zhou Y. TITLE Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis JOURNAL Toxicol Lett 385, 42-50 (2023) PUBMED 37634812 REMARK GeneRIF: Bromodomain protein 4 mediates the roles of TGFbeta1-induced Stat3 signaling in mouse liver fibrogenesis. REFERENCE 5 (residues 1 to 769) AUTHORS Pencik J, Philippe C, Schlederer M, Atas E, Pecoraro M, Grund-Groschke S, Li WJ, Tracz A, Heidegger I, Lagger S, Trachtova K, Oberhuber M, Heitzer E, Aksoy O, Neubauer HA, Wingelhofer B, Orlova A, Witzeneder N, Dillinger T, Redl E, Greiner G, D'Andrea D, Ostman JR, Tangermann S, Hermanova I, Schafer G, Sternberg F, Pohl EE, Sternberg C, Varady A, Horvath J, Stoiber D, Malcolm TI, Turner SD, Parkes EE, Hantusch B, Egger G, Rose-John S, Poli V, Jain S, Armstrong CWD, Hoermann G, Goffin V, Aberger F, Moriggl R, Carracedo A, McKinney C, Kennedy RD, Klocker H, Speicher MR, Tang DG, Moazzami AA, Heery DM, Hacker M and Kenner L. TITLE STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway JOURNAL Mol Cancer 22 (1), 133 (2023) PUBMED 37573301 REMARK GeneRIF: STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway. Publication Status: Online-Only REFERENCE 6 (residues 1 to 769) AUTHORS Schaefer TS, Sanders LK and Nathans D. TITLE Cooperative transcriptional activity of Jun and Stat3 beta, a short form of Stat3 JOURNAL Proc Natl Acad Sci U S A 92 (20), 9097-9101 (1995) PUBMED 7568080 REFERENCE 7 (residues 1 to 769) AUTHORS Wen Z, Zhong Z and Darnell JE Jr. TITLE Maximal activation of transcription by Stat1 and Stat3 requires both tyrosine and serine phosphorylation JOURNAL Cell 82 (2), 241-250 (1995) PUBMED 7543024 REFERENCE 8 (residues 1 to 769) AUTHORS Raz R, Durbin JE and Levy DE. TITLE Acute phase response factor and additional members of the interferon-stimulated gene factor 3 family integrate diverse signals from cytokines, interferons, and growth factors JOURNAL J Biol Chem 269 (39), 24391-24395 (1994) PUBMED 7523373 REFERENCE 9 (residues 1 to 769) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 REFERENCE 10 (residues 1 to 769) AUTHORS Akira S, Nishio Y, Inoue M, Wang XJ, Wei S, Matsusaka T, Yoshida K, Sudo T, Naruto M and Kishimoto T. TITLE Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway JOURNAL Cell 77 (1), 63-71 (1994) PUBMED 7512451 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL591466.8. On Aug 25, 2006 this sequence version replaced XP_001005155.1. Summary: The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U08378.1, SRR1660815.12556.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..769 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 63.82 cM" Protein 1..769 /product="signal transducer and activator of transcription 3 isoform 2" /note="acute phase response factor" /calculated_mol_wt=87836 Region 2..120 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Region 139..318 /region_name="STAT3_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16853" /db_xref="CDD:341078" Site order(142..165,213..239,263..284) /site_type="other" /note="coiled-coil motif" /db_xref="CDD:341078" Region 150..162 /region_name="Essential for nuclear import" /note="propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 214..215 /site_type="other" /note="ligand inducing" /db_xref="CDD:341078" Site order(243,245,247..248,251..252,260..261,264,267..268, 271..272,275,278..279,313..314) /site_type="other" /note="heterodimer interface [polypeptide binding]" /db_xref="CDD:341078" Region 321..484 /region_name="STAT3_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 3 (STAT3); cd16847" /db_xref="CDD:341085" Site order(382,417,432,465..466,469) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341085" Region 554..714 /region_name="SH2_STAT3" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 3 proteins; cd10374" /db_xref="CDD:198237" Site order(591,609,636,638) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site 601 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 615 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 631 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site order(637,653) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198237" Site order(647..648,709) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198237" Site 685 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 704 /site_type="phosphorylation" /note="Phosphotyrosine, by FER and PTK6. /evidence=ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11553624, ECO:0007744|PubMed:18034455; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 706 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P40763; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 713 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P42227.2)" Site 726 /site_type="phosphorylation" /note="Phosphoserine, by DYRK2, NLK, NEK6, IRAK1, RPS6KA5, ZIPK/DAPK3 and PKC/PRKCE. /evidence=ECO:0000305|PubMed:11553624, ECO:0000305|PubMed:15004007, ECO:0000305|PubMed:20595392, ECO:0000305|PubMed:7543024, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P42227.2)" CDS 1..769 /gene="Stat3" /gene_synonym="1110034C02Rik; Aprf" /coded_by="NM_213660.3:309..2618" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS48934.1" /db_xref="GeneID:20848" /db_xref="MGI:MGI:103038" ORIGIN 1 maqwnqlqql dtryleqlhq lysdsfpmel rqflapwies qdwayaaske shatlvfhnl 61 lgeidqqysr flqesnvlyq hnlrrikqfl qsrylekpme iarivarclw eesrllqtaa 121 taaqqggqan hptaavvtek qqmleqhlqd vrkrvqdleq kmkvvenlqd dfdfnyktlk 181 sqgdmqdlng nnqsvtrqkm qqleqmltal dqmrrsivse lagllsamey vqktltdeel 241 adwkrrqqia ciggppnicl drlenwitsl aesqlqtrqq ikkleelqqk vsykgdpivq 301 hrpmleeriv elfrnlmksa fvverqpcmp mhpdrplvik tgvqfttkvr llvkfpelny 361 qlkikvcidk dsgdvaalrg srkfnilgtn tkvmnmeesn ngslsaefkh ltlreqrcgn 421 ggrancdasl ivteelhlit fetevyhqgl kidlethslp vvvisnicqm pnawasilwy 481 nmltnnpknv nfftkppigt wdqvaevlsw qfssttkrgl sieqlttlae kllgpgvnys 541 gcqitwakfc kenmagkgfs fwvwldniid lvkkyilalw negyimgfis kererailst 601 kppgtfllrf sesskeggvt ftwvekdisg ktqiqsvepy tkqqlnnmsf aeiimgykim 661 datnilvspl vylypdipke eafgkycrpe sqehpeadpg aapylktkfi cvtpttcsnt 721 idlpmsprtl dslmqfgnng egaepsaggq fesltfdmdl tsecatspm // LOCUS NP_001333981 604 aa linear ROD 09-OCT-2023 DEFINITION epithelial splicing regulatory protein 1 isoform 3 [Mus musculus]. ACCESSION NP_001333981 XP_006537783 VERSION NP_001333981.1 DBSOURCE REFSEQ: accession NM_001347052.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 604) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 2 (residues 1 to 604) AUTHORS Zhao Y, Li M, Wu W, Miao W and Liu H. TITLE Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization JOURNAL Front Immunol 14, 1161273 (2023) PUBMED 37090731 REMARK GeneRIF: Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization. Publication Status: Online-Only REFERENCE 3 (residues 1 to 604) AUTHORS Peart NJ, Hwang JY, Quesnel-Vallieres M, Sears MJ, Yang Y, Stoilov P, Barash Y, Park JW, Lynch KW and Carstens RP. TITLE The global Protein-RNA interaction map of ESRP1 defines a post-transcriptional program that is essential for epithelial cell function JOURNAL iScience 25 (10), 105205 (2022) PUBMED 36238894 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 604) AUTHORS Spruce T, Plass M, Gohr A, Ray D, Martinez de Lagran M, Rot G, Novoa A, Burguera D, Permanyer J, Miret M, Zheng H, Swanson MS, Morris Q, Mallo M, Dierssen M, Hughes TR, Pernaute B and Irimia M. TITLE The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians JOURNAL PLoS Biol 20 (4), e3001615 (2022) PUBMED 35476669 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 604) AUTHORS Yu L, Zhang H, Guan X, Qin D, Zhou J and Wu X. TITLE Loss of ESRP1 blocks mouse oocyte development and leads to female infertility JOURNAL Development 148 (2) (2021) PUBMED 33318146 REMARK GeneRIF: Loss of ESRP1 blocks mouse oocyte development and leads to female infertility. Publication Status: Online-Only REFERENCE 6 (residues 1 to 604) AUTHORS Warzecha CC, Sato TK, Nabet B, Hogenesch JB and Carstens RP. TITLE ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing JOURNAL Mol Cell 33 (5), 591-601 (2009) PUBMED 19285943 REMARK GeneRIF: Epithelial splicing regulatory proteins 1/2 (ESRP1/2) are epithelial cell-type-specific regulators of FGFR2 splicing. REFERENCE 7 (residues 1 to 604) AUTHORS Sherwood RI, Jitianu C, Cleaver O, Shaywitz DA, Lamenzo JO, Chen AE, Golub TR and Melton DA. TITLE Prospective isolation and global gene expression analysis of definitive and visceral endoderm JOURNAL Dev Biol 304 (2), 541-555 (2007) PUBMED 17328885 REFERENCE 8 (residues 1 to 604) AUTHORS Evsikov AV, Graber JH, Brockman JM, Hampl A, Holbrook AE, Singh P, Eppig JJ, Solter D and Knowles BB. TITLE Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo JOURNAL Genes Dev 20 (19), 2713-2727 (2006) PUBMED 17015433 REFERENCE 9 (residues 1 to 604) AUTHORS McKee AE, Minet E, Stern C, Riahi S, Stiles CD and Silver PA. TITLE A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain JOURNAL BMC Dev Biol 5, 14 (2005) PUBMED 16033648 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 604) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL772170.14. On Nov 15, 2016 this sequence version replaced XP_006537783.1. Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 3' end and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..604 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 5.11 cM" Protein 1..604 /product="epithelial splicing regulatory protein 1 isoform 3" /note="RNA binding motif protein 35A" /calculated_mol_wt=67127 Region 29..>145 /region_name="DnaQ_like_exo" /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily; cl10012" /db_xref="CDD:447876" Region 216..308 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" Region 310..419 /region_name="RRM2_ESRP1" /note="RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins; cd12739" /db_xref="CDD:410136" Region 444..524 /region_name="RRM3_ESRP1_ESRP2" /note="RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins; cd12742" /db_xref="CDD:410138" Site 543 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H6T0; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" Site 578 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0000250|UniProtKB:Q6NXG1; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" CDS 1..604 /gene="Esrp1" /gene_synonym="2210008M09Rik; A630065D16; Rbm35a" /coded_by="NM_001347052.1:343..2157" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS84703.1" /db_xref="GeneID:207920" /db_xref="MGI:MGI:1917326" ORIGIN 1 mtaspdylvv lfgitagatg aklgsdekel illlwkvvdl ankkvgqlhe vlvrpdqlel 61 tedckeetki daenlssapq ldqalrqfnq svsnelnigv gtsfclctdg qlhirqilhp 121 easkknvllp ecfysffdlr kefkkccpgs pdidkldvaa mteslnfeks dsvsrygasq 181 vedmgniila misepynhrf sdpervnykf esgtcskmel iddstvvrar glpwqssdqd 241 iarffkglni akggaalcln aqgrrngeal vrfvseehrd lalqrhkhhm gtryievyka 301 tgedflkiag gtsnevaqfl skenqvivrm rglpftatae evvaffgqhc pitggkegil 361 fvtypdgrpt gdafvlface eyaqnalrkh kellgkryie lfrstaaevq qvlnrfssap 421 liplptppii pvlpqqfvpp tnvrdcirlr glpyaatied ildflgefst dirthgvhmv 481 lnhqgrpsgd afiqmkstdr afmaaqkyhk ktmkdryvev fqcsaeemnf vlmggtlnrn 541 glspppclsp psytfpapta vipteaaiyq pslllnpral qpstayypag tqlfmnytay 601 ypsv // LOCUS NP_001397163 479 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform k [Mus musculus]. ACCESSION NP_001397163 XP_030111079 VERSION NP_001397163.1 DBSOURCE REFSEQ: accession NM_001410234.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 479) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 479) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 479) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 479) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 479) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 479) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 479) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 479) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 479) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 479) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_030111079.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13948564.4538956.1, SRR17253011.7130258.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..479 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..479 /product="nuclear respiratory factor 1 isoform k" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=51067 Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..479 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410234.1:271..1710" /note="isoform k is encoded by transcript variant 24" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lfmadcggyk wilarrlqvg sslgregss // LOCUS NP_038777 129 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor receptor superfamily member 12A isoform 1 precursor [Mus musculus]. ACCESSION NP_038777 VERSION NP_038777.2 DBSOURCE REFSEQ: accession NM_013749.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 129) AUTHORS Ruiz BI, Lowman XH, Yang Y, Fan Q, Wang T, Wu H, Hanse EA and Kong M. TITLE Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia JOURNAL Genes (Basel) 14 (9), 1818 (2023) PUBMED 37761958 REMARK GeneRIF: Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 129) AUTHORS Short C, Zhong A, Xu J, Mahdi E, Glazier A, Malkoff N, Noriega N, Yeo T, Asahina K and Wang KS. TITLE TWEAK/FN14 promotes profibrogenic pathway activation in Prominin-1-expressing hepatic progenitor cells in biliary atresia JOURNAL Hepatology 77 (5), 1639-1653 (2023) PUBMED 36626628 REMARK GeneRIF: TWEAK/FN14 promotes profibrogenic pathway activation in Prominin-1-expressing hepatic progenitor cells in biliary atresia. REFERENCE 3 (residues 1 to 129) AUTHORS Wang X, Lu M, Gu H, Xiao T, Hu G, Luo M, Guo X and Xia Y. TITLE Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice JOURNAL J Invest Dermatol 143 (2), 242-253 (2023) PUBMED 36063885 REMARK GeneRIF: Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice. REFERENCE 4 (residues 1 to 129) AUTHORS Tomaz da Silva M, Joshi AS, Koike TE, Roy A, Mathukumalli K, Sopariwala DH, Narkar VA and Kumar A. TITLE Targeted ablation of Fn14 receptor improves exercise capacity and inhibits neurogenic muscle atrophy JOURNAL FASEB J 36 (12), e22666 (2022) PUBMED 36412933 REMARK GeneRIF: Targeted ablation of Fn14 receptor improves exercise capacity and inhibits neurogenic muscle atrophy. REFERENCE 5 (residues 1 to 129) AUTHORS Ortega MA, Villiger RK, Harrison-Chau M, Lieu S, Tamashiro KK, Lee AJ, Fujimoto BA, Patwardhan GY, Kepler J and Fogelgren B. TITLE Exocyst inactivation in urothelial cells disrupts autophagy and activates non-canonical NF-kappaB signaling JOURNAL Dis Model Mech 15 (10) (2022) PUBMED 36004645 REFERENCE 6 (residues 1 to 129) AUTHORS Polek TC, Talpaz M, Darnay BG and Spivak-Kroizman T. TITLE TWEAK mediates signal transduction and differentiation of RAW264.7 cells in the absence of Fn14/TweakR. Evidence for a second TWEAK receptor JOURNAL J Biol Chem 278 (34), 32317-32323 (2003) PUBMED 12794080 REMARK GeneRIF: findings show that the Fn14/TWEAK receptor (TweakR) was not responsible for the osteoclastic effect of TWEAK on RAW cells REFERENCE 7 (residues 1 to 129) AUTHORS Brown SA, Richards CM, Hanscom HN, Feng SL and Winkles JA. TITLE The Fn14 cytoplasmic tail binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation JOURNAL Biochem J 371 (Pt 2), 395-403 (2003) PUBMED 12529173 REMARK GeneRIF: The cytoplasmic tail of this protein binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation. REFERENCE 8 (residues 1 to 129) AUTHORS Wiley SR, Cassiano L, Lofton T, Davis-Smith T, Winkles JA, Lindner V, Liu H, Daniel TO, Smith CA and Fanslow WC. TITLE A novel TNF receptor family member binds TWEAK and is implicated in angiogenesis JOURNAL Immunity 15 (5), 837-846 (2001) PUBMED 11728344 REFERENCE 9 (residues 1 to 129) AUTHORS Feng SL, Guo Y, Factor VM, Thorgeirsson SS, Bell DW, Testa JR, Peifley KA and Winkles JA. TITLE The Fn14 immediate-early response gene is induced during liver regeneration and highly expressed in both human and murine hepatocellular carcinomas JOURNAL Am J Pathol 156 (4), 1253-1261 (2000) PUBMED 10751351 REFERENCE 10 (residues 1 to 129) AUTHORS Meighan-Mantha RL, Hsu DK, Guo Y, Brown SA, Feng SL, Peifley KA, Alberts GF, Copeland NG, Gilbert DJ, Jenkins NA, Richards CM and Winkles JA. TITLE The mitogen-inducible Fn14 gene encodes a type I transmembrane protein that modulates fibroblast adhesion and migration JOURNAL J Biol Chem 274 (46), 33166-33176 (1999) PUBMED 10551889 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK160136.1 and AI853177.1. On Jun 13, 2009 this sequence version replaced NP_038777.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF156164.1, AK160136.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN02415127 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..129 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 11.99 cM" Protein 1..129 /product="tumor necrosis factor receptor superfamily member 12A isoform 1 precursor" /note="tweak-receptor; FGF-inducible 14; fibroblast growth factor-regulated protein 2; fibroblast growth factor-inducible immediate-early response protein 14; type I transmembrane protein Fn14" /calculated_mol_wt=10833 Region 1..129 /region_name="stn_TNFRSF12A" /note="tumor necrosis factor receptor stn_TNFRSF12A_TNFR domain; pfam12191" /db_xref="CDD:403424" sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2826 Region 9..33 /region_name="CRD1" /note="CRD1 [structural motif]" /db_xref="CDD:276918" Region 36..104 /region_name="CRD2" /note="CRD2 [structural motif]" /db_xref="CDD:276918" Region 36..67 /region_name="TNFR-Cys, atypical" /note="propagated from UniProtKB/Swiss-Prot (Q9CR75.1)" Site 81..101 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9CR75.1)" CDS 1..129 /gene="Tnfrsf12a" /gene_synonym="Fn14; HPIP; TWEAK-R; TweakR" /coded_by="NM_013749.2:30..419" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS28456.1" /db_xref="GeneID:27279" /db_xref="MGI:MGI:1351484" ORIGIN 1 masawprslp qilvlgfglv lmraaageqa pgtspcssgs swsadldkcm dcascparph 61 sdfclgcaaa ppahfrllwp ilggalslvl vlalvssflv wrrcrrrekf ttpieetgge 121 gcpgvaliq // LOCUS NP_001392989 143 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 6 [Mus musculus]. ACCESSION NP_001392989 VERSION NP_001392989.1 DBSOURCE REFSEQ: accession NM_001406060.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 143) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 143) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 143) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 143) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 143) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 143) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 143) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 143) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 143) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 143) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.5859.1, SRR1660815.60451.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..143 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..143 /product="bcl-2-like protein 11 isoform 6" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=15972 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 73..110 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..143 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001406060.1:221..652" /note="isoform 6 is encoded by transcript variant 9" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa masirqsqee pedlrpeiri aqelrrigde fnetytrrvr tsphpqrkcn 121 cgdmapfctl rylspnsalt wci // LOCUS NP_033810 1105 aa linear ROD 09-OCT-2023 DEFINITION AP-3 complex subunit beta-1 [Mus musculus]. ACCESSION NP_033810 VERSION NP_033810.2 DBSOURCE REFSEQ: accession NM_009680.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1105) AUTHORS Xu H, Oses-Prieto JA, Khvotchev M, Jain S, Liang J, Burlingame A and Edwards RH. TITLE Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1 JOURNAL Nat Neurosci 26 (10), 1685-1700 (2023) PUBMED 37723322 REMARK GeneRIF: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1. REFERENCE 2 (residues 1 to 1105) AUTHORS Poli V, Di Gioia M, Sola-Visner M, Granucci F, Frelinger AL 3rd, Michelson AD and Zanoni I. TITLE Inhibition of transcription factor NFAT activity in activated platelets enhances their aggregation and exacerbates gram-negative bacterial septicemia JOURNAL Immunity 55 (2), 224-236 (2022) PUBMED 34995475 REFERENCE 3 (residues 1 to 1105) AUTHORS Kook S, Wang P, Meng S, Jetter CS, Sucre JMS, Benjamin JT, Gokey JJ, Hanby HA, Jaume A, Goetzl L, Marks MS and Guttentag SH. TITLE AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells JOURNAL Proc Natl Acad Sci U S A 118 (20) (2021) PUBMED 33990468 REFERENCE 4 (residues 1 to 1105) AUTHORS Yuan Y, Liu T, Huang X, Chen Y, Zhang W, Li T, Yang L, Chen Q, Wang Y, Wei A and Li W. TITLE A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules JOURNAL Blood 137 (13), 1804-1817 (2021) PUBMED 33513603 REFERENCE 5 (residues 1 to 1105) AUTHORS Cuevas-Mora K, Roque W, Shaghaghi H, Gochuico BR, Rosas IO, Summer R and Romero F. TITLE Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung JOURNAL Respir Res 22 (1), 49 (2021) PUBMED 33557836 REMARK GeneRIF: Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1105) AUTHORS Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO et al. TITLE The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication JOURNAL Nat Genet 1 (3), 171-175 (1992) PUBMED 1303230 REMARK Erratum:[Nat Genet 1992 Sep;2(1):84] REFERENCE 7 (residues 1 to 1105) AUTHORS Swank RT, Sweet HO, Davisson MT, Reddington M and Novak EK. TITLE Sandy: a new mouse model for platelet storage pool deficiency JOURNAL Genet Res 58 (1), 51-62 (1991) PUBMED 1936982 REFERENCE 8 (residues 1 to 1105) AUTHORS Holcombe RF, Stephenson DA, Zweidler A, Stewart RM, Chapman VM and Seidman JG. TITLE Linkage of loci associated with two pigment mutations on mouse chromosome 13 JOURNAL Genet Res 58 (1), 41-50 (1991) PUBMED 1682216 REFERENCE 9 (residues 1 to 1105) AUTHORS McGarry,M.P., Novak,E.K. and Swank,R.T. TITLE Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency JOURNAL Exp Hematol 14 (4), 261-265 (1986) PUBMED 3516713 REFERENCE 10 (residues 1 to 1105) AUTHORS Novak,E.K. and Swank,R.T. TITLE Lysosomal dysfunctions associated with mutations at mouse pigment genes JOURNAL Genetics 92 (1), 189-204 (1979) PUBMED 115747 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK171595.1, AK143559.1, AK163996.1, CK129787.1 and BQ032961.1. On Dec 19, 2007 this sequence version replaced NP_033810.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF103809.2, SRR9219380.26049.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1105 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="13" /map="13 49.22 cM" Protein 1..1105 /product="AP-3 complex subunit beta-1" /note="beta3A-adaptin; adaptor protein complex AP-3 beta-1 subunit; adapter-related protein complex 3 subunit beta-1; clathrin assembly protein complex 3 beta-1 large chain; beta-3A-adaptin; adaptor protein complex AP-3 subunit beta-1; recombination induced mutation 2; adaptor-related protein complex 3 subunit beta-1; adaptor-related protein complex AP-3 beta 1 subunit" /calculated_mol_wt=122610 Region 1..26 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Region 46..582 /region_name="Adaptin_N" /note="Adaptin N terminal region; pfam01602" /db_xref="CDD:396262" Site order(96..97,100,103..104,133..134,137,140..141,144, 168..169,172,175..176,179,205..206,209,212..213) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:293787" Region 116..144 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 150..180 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 188..213 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 271..292 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Site 276 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O00203; propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Region 668..824 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Region <734..792 /region_name="SEEEED" /note="Serine-rich region of AP3B1, clathrin-adaptor complex; pfam14797" /db_xref="CDD:434218" Site 761 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O00203; propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Site 763 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O00203; propagated from UniProtKB/Swiss-Prot (Q9Z1T1.2)" Region 824..969 /region_name="AP3B1_C" /note="Clathrin-adaptor complex-3 beta-1 subunit C-terminal; pfam14796" /db_xref="CDD:434217" CDS 1..1105 /gene="Ap3b1" /gene_synonym="AP-3; beta3A; Hps2; pe; pearl; rim2" /coded_by="NM_009680.3:145..3462" /db_xref="CCDS:CCDS26693.1" /db_xref="GeneID:11774" /db_xref="MGI:MGI:1333879" ORIGIN 1 mssnsfayne qsgggeaael gqeatstisp sgafglfssd wkknedlkqm lesnkdsakl 61 damkrivgmi akgknaself pavvknvask nieikklvyv ylvryaeeqq dlallsistf 121 qralkdpnql irasalrvls sirvpiivpv mmlaikeasa dlspyvrkna ahaiqklysl 181 dpeqkemlie viekllkdks tlvagsvvma feevcpdrid lihrnyrklc nllvdveewg 241 qvviihmltr yartqfvspw redggledne knfyeseeee eekekssrkk syamdpdhrl 301 lirntkpllq srnaavvmav aqlywhispk seagvisksl vrllrsnrev qyivlqniat 361 msierkgmfe pylksfyvrs tdptmiktlk leiltnlane anistllref qtyvrsqdkq 421 faaatiqtig rcatsisevt dtclnglvcl lsnrdeivva esvvvikkll qmqpaqhgei 481 irhmakllds itvpvarasi lwligencer vpkiapdvlr kmaksftsed dlvklqilnl 541 aaklyltnsk qtklltqyil nlgkydqnyd irdrtrfirq livpneksga lskyakkifl 601 apkpaplles pfkdrdrfql gtlshtlnik asgylelsnw pevapdpsvr nveviesake 661 wtplgktkke kpmkkfyses eeeededede deeeeekede denpsdsssd sesgsgsesg 721 dtgtedssed sssgqdsetg sqaeaerqkv akrnsktkrk sdsenrekkn enskasesss 781 eesssmedss sesesesgsd sepaprnvap akerkpqqer hppskdvfll dlddfnpvst 841 pvalptpals psliadlegl nlstsssvin vstpvfvptk thellhrmhg kglaahycfp 901 rqpcifsdkm vsvqitltnt sdrkienihi ggkglpvgmq mhafhpidsl epkgsvtvsv 961 gidfcdstqt asfqlctkdd cfnvtlqppv gellspvams ekdfkkeqgt ltgmnetsat 1021 liaapqnftp smilqkvvnv anlgavpssq dnvhrfaart vhsgslmlvt velkegstaq 1081 liintektvi gsvllrelkp vlsqg // LOCUS NP_083618 295 aa linear ROD 09-OCT-2023 DEFINITION non-homologous end-joining factor 1 [Mus musculus]. ACCESSION NP_083618 XP_997840 VERSION NP_083618.3 DBSOURCE REFSEQ: accession NM_029342.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 295) AUTHORS Bery A, Etienne O, Mouton L, Mokrani S, Granotier-Beckers C, Gauthier LR, Feat-Vetel J, Kortulewski T, Peres EA, Desmaze C, Lestaveal P, Barroca V, Laugeray A, Boumezbeur F, Abramovski V, Mortaud S, Menuet A, Le Bihan D, Villartay JP and Boussin FD. TITLE XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors JOURNAL Cell Rep 42 (4), 112342 (2023) PUBMED 37027298 REMARK GeneRIF: XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors. REFERENCE 2 (residues 1 to 295) AUTHORS Vincendeau E, Wei W, Zhang X, Planchais C, Yu W, Lenden-Hasse H, Cokelaer T, Pipoli da Fonseca J, Mouquet H, Adams DJ, Alt FW, Jackson SP, Balmus G, Lescale C and Deriano L. TITLE SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination JOURNAL Nat Commun 13 (1), 3707 (2022) PUBMED 35764636 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 295) AUTHORS Roch B, Abramowski V, Etienne O, Musilli S, David P, Charbonnier JB, Callebaut I, Boussin FD and de Villartay JP. TITLE An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development JOURNAL Elife 10, e69353 (2021) PUBMED 34519267 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 295) AUTHORS Gago-Fuentes R and Oksenych V. TITLE Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population JOURNAL Biomolecules 11 (1), 20 (2020) PUBMED 33379193 REMARK GeneRIF: Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population. Publication Status: Online-Only REFERENCE 5 (residues 1 to 295) AUTHORS Castaneda-Zegarra S, Zhang Q, Alirezaylavasani A, Fernandez-Berrocal M, Yao R and Oksenych V. TITLE Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI JOURNAL Aging (Albany NY) 12 (23), 23578-23597 (2020) PUBMED 33289702 REMARK GeneRIF: Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI. REFERENCE 6 (residues 1 to 295) AUTHORS Ahnesorg P, Smith P and Jackson SP. TITLE XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining JOURNAL Cell 124 (2), 301-313 (2006) PUBMED 16439205 REFERENCE 7 (residues 1 to 295) AUTHORS Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP and Revy P. TITLE Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly JOURNAL Cell 124 (2), 287-299 (2006) PUBMED 16439204 REFERENCE 8 (residues 1 to 295) AUTHORS Taniwaki T, Haruna K, Nakamura H, Sekimoto T, Oike Y, Imaizumi T, Saito F, Muta M, Soejima Y, Utoh A, Nakagata N, Araki M, Yamamura K and Araki K. TITLE Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette JOURNAL Dev Growth Differ 47 (3), 163-172 (2005) PUBMED 15840001 REFERENCE 9 (residues 1 to 295) AUTHORS VanBuren V, Piao Y, Dudekula DB, Qian Y, Carter MG, Martin PR, Stagg CA, Bassey UC, Aiba K, Hamatani T, Kargul GJ, Luo AG, Kelso J, Hide W and Ko MS. TITLE Assembly, verification, and initial annotation of the NIA mouse 7.4K cDNA clone set JOURNAL Genome Res 12 (12), 1999-2003 (2002) PUBMED 12466305 REFERENCE 10 (residues 1 to 295) AUTHORS Araki K, Imaizumi T, Sekimoto T, Yoshinobu K, Yoshimuta J, Akizuki M, Miura K, Araki M and Yamamura K. TITLE Exchangeable gene trap using the Cre/mutated lox system JOURNAL Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999) PUBMED 10512203 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY095373.1, BC107252.1, BY432477.1 and AV512639.1. On Oct 20, 2007 this sequence version replaced NP_083618.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164143 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..295 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 38.56 cM" Protein 1..295 /product="non-homologous end-joining factor 1" /note="XRCC4-like factor; protein cernunnos; nonhomologous end-joining factor 1" /calculated_mol_wt=32608 Region 1..135 /region_name="Globular head. /evidence=ECO:0000250|UniProtKB:Q9H9Q4" /note="propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Region 12..175 /region_name="XLF" /note="XLF-Cernunnos, XRcc4-like factor, NHEJ component; pfam09302" /db_xref="CDD:430513" Site 115 /site_type="other" /note="Leu-lock. /evidence=ECO:0000250|UniProtKB:Q9H9Q4; propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Site 132 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H9Q4; propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Region 228..295 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Site 245 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Site 262 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H9Q4; propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" Region 285..295 /region_name="XLM. /evidence=ECO:0000250|UniProtKB:Q9H9Q4" /note="propagated from UniProtKB/Swiss-Prot (Q3KNJ2.1)" CDS 1..295 /gene="Nhej1" /gene_synonym="1700029B21Rik; cernunnos; XLF" /coded_by="NM_029342.4:170..1057" /db_xref="GeneID:75570" /db_xref="MGI:MGI:1922820" ORIGIN 1 meeleqdlll qpwawlqlae nsllakvsit khgyallisd lqqvwheqvd tsvvsqrake 61 lnkrltappa allchldeal rplfkdsahp skatfscdrg eeglilrvqs elsglpfswh 121 fhcipasssl vsqhlihplm gvslalqshv relaallrmk dleiqayqes gavlsrsrlk 181 tepfeensfl eqfmaeklpe acavgdgkpf amslqslyva vtkqqiqarq ahkdsgetqa 241 ssstsprgtd nqpeepvsls stlsepeyep vaasgpmhra rlvkskrkkp rglfs // LOCUS NP_001390660 733 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 4 [Mus musculus]. ACCESSION NP_001390660 XP_036009641 VERSION NP_001390660.1 DBSOURCE REFSEQ: accession NM_001403731.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 733) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 733) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 733) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 733) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 733) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 733) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 733) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 733) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 733) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 733) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. On Apr 4, 2022 this sequence version replaced XP_036009641.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422597.1196548.1, SRR13422600.331383.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..733 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..733 /product="transcriptional repressor CTCF isoform 4" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83313 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 696..723 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..733 /gene="Ctcf" /coded_by="NM_001403731.1:327..2528" /note="isoform 4 is encoded by transcript variant 11" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqpiiqve dqntgaieni ivevkkepda epaegeeeea qaattdapng 721 dltpemilsm mdr // LOCUS NP_001075036 464 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 1 [Mus musculus]. ACCESSION NP_001075036 VERSION NP_001075036.1 DBSOURCE REFSEQ: accession NM_001081567.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 464) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 464) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 464) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 464) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 464) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 464) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 464) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 464) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1, also know as JNK3 alpha2) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219379.4978.1, BC046625.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..464 /product="mitogen-activated protein kinase 10 isoform 1" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=52387 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Region 405..464 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..464 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001081567.3:517..1911" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS39185.1" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccr // LOCUS NP_001397155 519 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform e [Mus musculus]. ACCESSION NP_001397155 VERSION NP_001397155.1 DBSOURCE REFSEQ: accession NM_001410226.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 519) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 519) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 519) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 519) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 519) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 519) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 519) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 519) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 519) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 519) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422598.1223890.1, SRR17253011.2953197.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..519 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..519 /product="nuclear respiratory factor 1 isoform e" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=55677 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" CDS 1..519 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410226.1:274..1833" /note="isoform e is encoded by transcript variant 16" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lgspvlpeim asktrgyrhs cgrdlyrlfs 481 ffllysknne rillapatsg spcfyvrnii tirvgilss // LOCUS NP_001341977 509 aa linear ROD 09-OCT-2023 DEFINITION activin receptor type-1 precursor [Mus musculus]. ACCESSION NP_001341977 XP_017170495 VERSION NP_001341977.1 DBSOURCE REFSEQ: accession NM_001355048.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 509) AUTHORS Yang YS, Lin C, Ma H, Xie J, Kaplan FS, Gao G and Shim JH. TITLE AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva JOURNAL Biomolecules 13 (9), 1364 (2023) PUBMED 37759764 REMARK GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only REFERENCE 2 (residues 1 to 509) AUTHORS Yamaguchi H, Shen J, Little DR, Li M, Sozen S, Suzuki K, Mishina Y and Komatsu Y. TITLE Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation JOURNAL Biochem Biophys Res Commun 629, 101-105 (2022) PUBMED 36116371 REMARK GeneRIF: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation. REFERENCE 3 (residues 1 to 509) AUTHORS Yamamoto M, Stoessel SJ, Yamamoto S and Goldhamer DJ. TITLE Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification JOURNAL J Bone Miner Res 37 (11), 2077-2093 (2022) PUBMED 35637634 REMARK GeneRIF: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification. REFERENCE 4 (residues 1 to 509) AUTHORS Lees-Shepard JB, Stoessel SJ, Chandler JT, Bouchard K, Bento P, Apuzzo LN, Devarakonda PM, Hunter JW and Goldhamer DJ. TITLE An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice JOURNAL J Clin Invest 132 (12) (2022) PUBMED 35503416 REFERENCE 5 (residues 1 to 509) AUTHORS Chen HY, Hu Y, Xu XB, Zhou YA, Li NS, He C, Xie C, Lu NH and Zhu Y. TITLE Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2 JOURNAL Helicobacter 26 (6), e12849 (2021) PUBMED 34490965 REMARK GeneRIF: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2. REFERENCE 6 (residues 1 to 509) AUTHORS Schmitt J, Mielke R and Schrewe H. TITLE Genomic organization of a mouse type I activin receptor JOURNAL Biochem Biophys Res Commun 213 (1), 211-217 (1995) PUBMED 7639738 REFERENCE 7 (residues 1 to 509) AUTHORS Verschueren K, Dewulf N, Goumans MJ, Lonnoy O, Feijen A, Grimsby S, Vandi Spiegle K, ten Dijke P, Moren A, Vanscheeuwijck P, Heldin CH, Miyazono K, Mummery C, Van Den Eijnden-Van Raaij J and Huylebroeck D. TITLE Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis JOURNAL Mech Dev 52 (1), 109-123 (1995) PUBMED 7577669 REFERENCE 8 (residues 1 to 509) AUTHORS Roelen BA, Lin HY, Knezevic V, Freund E and Mummery CL. TITLE Expression of TGF-beta s and their receptors during implantation and organogenesis of the mouse embryo JOURNAL Dev Biol 166 (2), 716-728 (1994) PUBMED 7813789 REFERENCE 9 (residues 1 to 509) AUTHORS Nakamura T, Sugino K, Kurosawa N, Sawai M, Takio K, Eto Y, Iwashita S, Muramatsu M, Titani K and Sugino H. TITLE Isolation and characterization of activin receptor from mouse embryonal carcinoma cells. Identification of its serine/threonine/tyrosine protein kinase activity JOURNAL J Biol Chem 267 (26), 18924-18928 (1992) PUBMED 1326537 REFERENCE 10 (residues 1 to 509) AUTHORS Mathews LS and Vale WW. TITLE Expression cloning of an activin receptor, a predicted transmembrane serine kinase JOURNAL Cell 65 (6), 973-982 (1991) PUBMED 1646080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL732468.10 and AL807788.9. On Sep 6, 2017 this sequence version replaced XP_017170495.1. Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.271415.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..509 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 33.05 cM" Protein 1..509 /product="activin receptor type-1 precursor" /EC_number="2.7.11.30" /note="activin receptor type-1; TSR-I; TSK-7L; activin receptor type I; TGF-B superfamily receptor type I; serine/threonine-protein kinase receptor R1" /calculated_mol_wt=55077 sig_peptide 1..20 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=2167 mat_peptide 21..509 /product="Activin receptor type-1. /id=PRO_0000024395" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=55077 Region 33..103 /region_name="Activin_recp" /note="Activin types I and II receptor domain; pfam01064" /db_xref="CDD:426025" Site 102 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P37172.2)" Site 124..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" Region 179..206 /region_name="TGF_beta_GS" /note="Transforming growth factor beta type I GS-motif; pfam08515" /db_xref="CDD:430045" Region 202..499 /region_name="STKc_ACVR1_ALK1" /note="Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1; cd14142" /db_xref="CDD:271044" Site order(202..203,206..207,245..246,249..250,253..254,268, 270) /site_type="other" /note="FKBP12 binding site [polypeptide binding]" /db_xref="CDD:271044" Site order(214..218,222,233,235,263,283..286,290,292,336,338, 340..341,343,354,357,377..380) /site_type="active" /db_xref="CDD:271044" Site order(214..220,222,233,235,283..284,286,290,340..341,343, 354) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271044" Site order(218,290,292,336,338,340,357,377..380) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271044" Site 353..380 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271044" Site 501 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q04771; propagated from UniProtKB/Swiss-Prot (P37172.2)" CDS 1..509 /gene="Acvr1" /gene_synonym="ActR-I; ActRIA; Acvr; Acvr1a; Acvrlk2; Alk-2; ALK2; Alk8; D330013D15Rik; SKR1; Tsk7L" /coded_by="NM_001355048.1:238..1767" /db_xref="CCDS:CCDS16050.1" /db_xref="GeneID:11477" /db_xref="MGI:MGI:87911" ORIGIN 1 mvdgvmilpv lmmmafpsps vedekpkvnq klymcvcegl scgnedhceg qqcfsslsin 61 dgfhvyqkgc fqvyeqgkmt cktppspgqa veccqgdwcn rnitaqlptk gksfpgtqnf 121 hlevgliils vvfavcllac ilgvalrkfk rrnqerlnpr dveygtiegl ittnvgdstl 181 aelldhscts gsgsglpflv qrtvarqitl lecvgkgryg evwrgswqge nvavkifssr 241 dekswfrete lyntvmlrhe nilgfiasdm tsrhsstqlw lithyhemgs lydylqlttl 301 dtvsclrivl siasglahlh ieifgtqgks aiahrdlksk nilvkkngqc ciadlglavm 361 hsqstnqldv gnnprvgtkr ymapevldet iqvdcfdsyk rvdiwafglv lwevarrmvs 421 ngivedykpp fydvvpndps fedmrkvvcv dqqrpnipnr wfsdptltsl aklmkecwyq 481 npsarltalr ikktltkidn sldklktdc // LOCUS NP_001298000 249 aa linear ROD 09-OCT-2023 DEFINITION methyl-CpG-binding domain protein 2 isoform 2 [Mus musculus]. ACCESSION NP_001298000 XP_006525775 VERSION NP_001298000.1 DBSOURCE REFSEQ: accession NM_001311071.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 249) AUTHORS Duan W, Huang J, Wasti B, Chen Z, Yuan Y, He Y, Li D, Jia J, Liu S, Liu Y, Ma L, Zeng Q, Zhu L, Li J, Zhang X and Xiang X. TITLE miR-146a-3p as a potential novel therapeutic by targeting MBD2 to mediate Th17 differentiation in Th17 predominant neutrophilic severe asthma JOURNAL Clin Exp Med 23 (6), 2839-2854 (2023) PUBMED 36961677 REMARK GeneRIF: miR-146a-3p as a potential novel therapeutic by targeting MBD2 to mediate Th17 differentiation in Th17 predominant neutrophilic severe asthma. REFERENCE 2 (residues 1 to 249) AUTHORS Lax E, Do Carmo S, Enuka Y, Sapozhnikov DM, Welikovitch LA, Mahmood N, Rabbani SA, Wang L, Britt JP, Hancock WW, Yarden Y and Szyf M. TITLE Methyl-CpG binding domain 2 (Mbd2) is an epigenetic regulator of autism-risk genes and cognition JOURNAL Transl Psychiatry 13 (1), 259 (2023) PUBMED 37443311 REMARK GeneRIF: Methyl-CpG binding domain 2 (Mbd2) is an epigenetic regulator of autism-risk genes and cognition. Publication Status: Online-Only REFERENCE 3 (residues 1 to 249) AUTHORS Jiang Y, Li L, Pan Q, Du X, Han Q, Ling F, Li R, Mai L, Huang J, Chu S and Ma L. TITLE Methyl-cpg-binding Domain Protein 2 Silencing Inhibits Th17 Differentiation of CD4+T cells Induced by Ovalbumin JOURNAL Iran J Immunol 20 (1), 45-56 (2023) PUBMED 36932919 REMARK GeneRIF: Methyl-cpg-binding Domain Protein 2 Silencing Inhibits Th17 Differentiation of CD4+T cells Induced by Ovalbumin. REFERENCE 4 (residues 1 to 249) AUTHORS Wu GR, Zhou M, Wang Y, Zhou Q, Zhang L, He L, Zhang S, Yu Q, Xu Y, Zhao J, Xiong W and Wang CY. TITLE Blockade of Mbd2 by siRNA-loaded liposomes protects mice against OVA-induced allergic airway inflammation via repressing M2 macrophage production JOURNAL Front Immunol 13, 930103 (2022) PUBMED 36090987 REMARK GeneRIF: Blockade of Mbd2 by siRNA-loaded liposomes protects mice against OVA-induced allergic airway inflammation via repressing M2 macrophage production. Publication Status: Online-Only REFERENCE 5 (residues 1 to 249) AUTHORS Ai K, Pan J, Zhang P, Li H, He Z, Zhang H, Li X, Li Y, Yi L, Kang Y, Wang Y, Xiang X, Chai X and Zhang D. TITLE Methyl-CpG-binding domain protein 2 contributes to renal fibrosis through promoting polarized M1 macrophages JOURNAL Cell Death Dis 13 (2), 125 (2022) PUBMED 35136032 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 249) AUTHORS Klinowska TC, Alexander CM, Georges-Labouesse E, Van der Neut R, Kreidberg JA, Jones CJ, Sonnenberg A and Streuli CH. TITLE Epithelial development and differentiation in the mammary gland is not dependent on alpha 3 or alpha 6 integrin subunits JOURNAL Dev Biol 233 (2), 449-467 (2001) PUBMED 11336507 REFERENCE 7 (residues 1 to 249) AUTHORS Hendrich B, Guy J, Ramsahoye B, Wilson VA and Bird A. TITLE Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development JOURNAL Genes Dev 15 (6), 710-723 (2001) PUBMED 11274056 REFERENCE 8 (residues 1 to 249) AUTHORS Guy J, Hendrich B, Holmes M, Martin JE and Bird A. TITLE A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome JOURNAL Nat Genet 27 (3), 322-326 (2001) PUBMED 11242117 REFERENCE 9 (residues 1 to 249) AUTHORS Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A. TITLE Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes JOURNAL Mamm Genome 10 (9), 906-912 (1999) PUBMED 10441743 REFERENCE 10 (residues 1 to 249) AUTHORS Hendrich B and Bird A. TITLE Identification and characterization of a family of mammalian methyl-CpG binding proteins JOURNAL Mol Cell Biol 18 (11), 6538-6547 (1998) PUBMED 9774669 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CX239662.1, AF072245.1, AC134831.3 and BE953207.1. On Jul 21, 2015 this sequence version replaced XP_006525775.1. Transcript Variant: This variant (2) lacks part of the 3' coding region and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF072245.1, AK082825.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..249 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 44.54 cM" Protein 1..249 /product="methyl-CpG-binding domain protein 2 isoform 2" /note="methyl-CpG-binding protein MBD2; testis-specific methyl-CpG binding protein 2" /calculated_mol_wt=25320 Region 154..217 /region_name="MeCP2_MBD" /note="MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding...; cd01396" /db_xref="CDD:238690" Site order(165,167,169,177,179,188,191,195) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238690" CDS 1..249 /gene="Mbd2" /gene_synonym="MBD2a" /coded_by="NM_001311071.1:126..875" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS79661.1" /db_xref="GeneID:17191" /db_xref="MGI:MGI:1333813" ORIGIN 1 mrahpgggrc cpeqeegesa aggsgaggds aieqggqgsa lapspvsgvr regargggrg 61 rgrwkqaarg ggvcgrgrgr grgrgrgrgr grgrgrpqsg gsglggdggg gaggcgggsg 121 ggvaprrdpv pfpsgssgpg prgpratesg krmdcpalpp gwkkeevirk sglsagksdv 181 yyfspsgkkf rskpqlaryl gnavdlssfd frtgkmmpsk lqknkqrlrn dplnqnkfrl 241 ikkqtligl // LOCUS NP_001157788 895 aa linear ROD 09-OCT-2023 DEFINITION serine-rich coiled-coil domain-containing protein 1 [Mus musculus]. ACCESSION NP_001157788 VERSION NP_001157788.1 DBSOURCE REFSEQ: accession NM_001164316.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 895) AUTHORS Chen K, Chen X, Lang C, Yuan X, Huang J, Li Z, Xu M, Wu K, Zhou C, Li Q, Zhu C, Liu L and Shang X. TITLE CircFam190a: a critical positive regulator of osteoclast differentiation via enhancement of the AKT1/HSP90beta complex JOURNAL Exp Mol Med 55 (9), 2051-2066 (2023) PUBMED 37653038 REMARK GeneRIF: CircFam190a: a critical positive regulator of osteoclast differentiation via enhancement of the AKT1/HSP90beta complex. REFERENCE 2 (residues 1 to 895) AUTHORS Okazaki N, F-Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S, Saga Y, Seino S, Nishimura M, Kaisho T, Hoshino K, Kitamura H, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 11 (3), 205-218 (2004) PUBMED 15368895 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB646598.1, BB634602.1, AK031754.1 and AK173231.1. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..895 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 29.24 cM" Protein 1..895 /product="serine-rich coiled-coil domain-containing protein 1" /note="protein FAM190A; family with sequence similarity 190, member A; coiled-coil serine-rich protein 1" /calculated_mol_wt=98087 Region 1..142 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 154..177 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 332..394 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 459..497 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 731..754 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" CDS 1..895 /gene="Ccser1" /gene_synonym="6230405M12Rik; C130092O11Rik; Fam190a" /coded_by="NM_001164316.1:319..3006" /db_xref="CCDS:CCDS51800.1" /db_xref="GeneID:232035" /db_xref="MGI:MGI:3045354" ORIGIN 1 mgdsgsrrct lvsrlpifrk sinrrhdslp sspsssntag vhssspsstn sssgstgkrr 61 sifrapsisf hhkkgsepkp epteqnlsis ngaqpshsnm qklsleehvk trgrhsvgfs 121 ssrskkitrs ltedfereke pstnknvfin clssgrsegd dsgfteeqsr rsikqstkkl 181 lpksfsshyk fcksvpqsqs tsliqqpefs laiaqyqeqe aalgrpspsc svdvterags 241 slqspllsad lttaqtpsef laltedslse adafpksgst ashcdnfghn datsqptssl 301 tavsktkmef vgtapcvmsp gryrlegrcs telhsspetp agnrrevslq stelsvgngs 361 dpethlpahh qrgesplaha gepalrtgsp rtlgsydqhk alaerfkgvh pvsdsrvips 421 sgdhvfnkts ygyeasaakv lasslspyre gryierrlrs ssegtagssr mvlkpkdghv 481 easslrkhrt gsssskmnsl dvlnhlgsce ldeddlmldl efleeqnlqp pvcredschs 541 vmsctavlls pvdpgkevnm leepkcpeps kqnlslritk dtdqearcsh vscmpnspsa 601 dwpqqgveen ggidslpfrl mlqectavkt lllkmkrvlq esdvspssst tslpisplte 661 eplpfkditr decsmlrlql kdrdelisql qaelekvqhl qkafasrvdk stqtellgcd 721 glslkrleav qggretthrn rtmsqshstr drkaihtpte drfrystadq tspyknicql 781 pglclsnflk dkelggvmkh trgnheavts emtqnsrttm gqsflkaaak peglpmfsek 841 pkdpaalsrq hstftgrfgq pprgpislht ysrknvflhh nlhttefqtl gqqdg // LOCUS NP_001343357 89 aa linear ROD 09-OCT-2023 DEFINITION pancreatic progenitor cell differentiation and proliferation factor isoform b [Mus musculus]. ACCESSION NP_001343357 VERSION NP_001343357.1 DBSOURCE REFSEQ: accession NM_001356428.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 89) AUTHORS Wang YK, Ma N, Xu S, Huang JY, Ni QZ, Cao HJ, Zheng QW, Zhu B, Xia J, Zhang FK, Ding XF, Qiu XS, Chen TW, Wang K, Chen W, Li ZG, Cheng SQ, Xie D and Li JJ. TITLE PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1 JOURNAL Cell Rep 42 (4), 112340 (2023) PUBMED 37027301 REMARK GeneRIF: PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1. REFERENCE 2 (residues 1 to 89) AUTHORS Ni QZ, Zhu B, Ji Y, Zheng QW, Liang X, Ma N, Jiang H, Zhang FK, Shang YR, Wang YK, Xu S, Zhang EB, Yuan YM, Chen TW, Yin FF, Cao HJ, Huang JY, Xia J, Ding XF, Qiu XS, Ding K, Song C, Zhou WT, Wu M, Wang K, Lui R, Lin Q, Chen W, Li ZG, Cheng SQ, Wang XF, Xie D and Li JJ. TITLE PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1 JOURNAL Adv Sci (Weinh) 10 (2), e2202448 (2023) PUBMED 36453576 REMARK GeneRIF: PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1. REFERENCE 3 (residues 1 to 89) AUTHORS Zheng QW, Ni QZ, Zhu B, Liang X, Ma N, Wang YK, Xu S, Cao HJ, Xia J, Zhang FK, Zhang EB, Qiu XS, Ding XF, Qiu L, Zhang XL, Dong ZH, Li ZG, Zhang XL, Xie D and Li JJ. TITLE PPDPF promotes lung adenocarcinoma progression via inhibiting apoptosis and NK cell-mediated cytotoxicity through STAT3 JOURNAL Oncogene 41 (36), 4244-4256 (2022) PUBMED 35906391 REMARK Erratum:[Oncogene. 2023 Aug;42(35):2655-2656. PMID: 37491607] REFERENCE 4 (residues 1 to 89) AUTHORS Ma N, Wang YK, Xu S, Ni QZ, Zheng QW, Zhu B, Cao HJ, Jiang H, Zhang FK, Yuan YM, Zhang EB, Chen TW, Xia J, Ding XF, Chen ZH, Zhang XP, Wang K, Cheng SQ, Qiu L, Li ZG, Yu YC, Wang XF, Zhou B, Li JJ and Xie D. TITLE PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling JOURNAL Nat Commun 12 (1), 3059 (2021) PUBMED 34031390 REMARK GeneRIF: PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling. Publication Status: Online-Only REFERENCE 5 (residues 1 to 89) AUTHORS Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray SA. CONSRTM International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center TITLE High-throughput discovery of novel developmental phenotypes JOURNAL Nature 537 (7621), 508-514 (2016) PUBMED 27626380 REMARK Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450] REFERENCE 6 (residues 1 to 89) AUTHORS Lewandowski JP, Du F, Zhang S, Powell MB, Falkenstein KN, Ji H and Vokes SA. TITLE Spatiotemporal regulation of GLI target genes in the mammalian limb bud JOURNAL Dev Biol 406 (1), 92-103 (2015) PUBMED 26238476 REFERENCE 7 (residues 1 to 89) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL450341.10. Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AV585998.1, SRR17253011.3849143.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849376 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..89 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 103.62 cM" Protein 1..89 /product="pancreatic progenitor cell differentiation and proliferation factor isoform b" /note="exocrine differentiation and proliferation factor" /calculated_mol_wt=9706 Region 1..85 /region_name="PPDFL" /note="Differentiation and proliferation regulator; pfam15060" /db_xref="CDD:434428" CDS 1..89 /gene="Ppdpf" /gene_synonym="0610012G23Rik; 2610317A05Rik; 2700038C09Rik; 3110053G12Rik" /coded_by="NM_001356428.1:341..610" /note="isoform b is encoded by transcript variant 3" /db_xref="GeneID:66496" /db_xref="MGI:MGI:1913746" ORIGIN 1 maaipssgsl vathdyyrrl pkadpghwwa sfffgkstlp fmttvlespe rsaespqvsr 61 spmtcgltpe tmkqqpvihs gqtnprdls // LOCUS NP_001278106 706 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform g [Mus musculus]. ACCESSION NP_001278106 XP_006498955 VERSION NP_001278106.1 DBSOURCE REFSEQ: accession NM_001291177.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 706) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 706) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 706) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 706) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 706) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 706) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 706) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 706) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 706) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 706) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887590.1, EU887581.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498955.1. Transcript Variant: This variant (14, also known as IB-IIS-deltaXa) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (g) is shorter at the N-terminus, compared to isoform a. Both variants 7 and 14 encode isoform g. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887590.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..706 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..706 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform g" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=76835 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..458 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(382,446) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..706 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291177.1:318..2438" /note="isoform g is encoded by transcript variant 14" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttdgq qiwemeatvd kdksqpnmlf 421 veipeyrnkh irvpvkvnfy vingkrkrsq pqhftyhpvp aiktepsdey epslicspah 481 gglgsqpyyp qhpmlaesps clvatmapcq qfrsglsspd aryqqqspaa alyqrsksls 541 pgllgyqqps llaaplglad ahrsvlvhag sqgqgqgstl phtssasqqa spvihysptn 601 qqlrggghqe fqhimycenf gpssarpgpp pinqgqrlsp gayptviqqq tapsqraakn 661 gpsdqkealp tgvtvkqeqn ldqtylddvn eiirkefsgp psrnqt // LOCUS NP_653131 644 aa linear ROD 09-OCT-2023 DEFINITION interleukin-23 receptor precursor [Mus musculus]. ACCESSION NP_653131 VERSION NP_653131.3 DBSOURCE REFSEQ: accession NM_144548.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 644) AUTHORS Jacobse J, Brown RE, Li J, Pilat JM, Pham L, Short SP, Peek CT, Rolong A, Washington MK, Martinez-Barricarte R, Byndloss MX, Shelton C, Markle JG, Latour YL, Allaman MM, Cassat JE, Wilson KT, Choksi YA, Williams CS, Lau KS, Flynn CR, Casanova JL, Rings EHHM, Samsom JN and Goettel JA. TITLE Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells JOURNAL Cell Rep 42 (2), 112128 (2023) PUBMED 36807140 REMARK GeneRIF: Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells. REFERENCE 2 (residues 1 to 644) AUTHORS Hackstein CP, Costigan D, Drexhage L, Pearson C, Bullers S, Ilott N, Akther HD, Gu Y, FitzPatrick MEB, Harrison OJ, Garner LC, Mann EH, Pandey S, Friedrich M, Provine NM, Uhlig HH, Marchi E, Powrie F, Klenerman P and Thornton EE. TITLE A conserved population of MHC II-restricted, innate-like, commensal-reactive T cells in the gut of humans and mice JOURNAL Nat Commun 13 (1), 7472 (2022) PUBMED 36463279 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 644) AUTHORS Li W, An N, Wang M, Liu X and Mei Z. TITLE Interleukin-23 receptor defines T helper 1-like regulatory T cells in oral squamous cell carcinoma JOURNAL Immun Inflamm Dis 10 (12), e746 (2022) PUBMED 36444617 REMARK GeneRIF: Interleukin-23 receptor defines T helper 1-like regulatory T cells in oral squamous cell carcinoma. REFERENCE 4 (residues 1 to 644) AUTHORS Viladomiu M, Khounlotham M, Dogan B, Lima SF, Elsaadi A, Cardakli E, Castellanos JG, Ng C, Herzog J, Schoenborn AA, Ellermann M, Liu B, Zhang S, Gulati AS, Sartor RB, Simpson KW, Lipkin SM and Longman RS. TITLE Agr2-associated ER stress promotes adherent-invasive E. coli dysbiosis and triggers CD103+ dendritic cell IL-23-dependent ileocolitis JOURNAL Cell Rep 41 (7), 111637 (2022) PUBMED 36384110 REFERENCE 5 (residues 1 to 644) AUTHORS Pawlak M, DeTomaso D, Schnell A, Meyer Zu Horste G, Lee Y, Nyman J, Dionne D, Regan BML, Singh V, Delorey T, Schramm MA, Wang C, Wallrapp A, Burkett PR, Riesenfeld SJ, Anderson AC, Regev A, Xavier RJ, Yosef N and Kuchroo VK. TITLE Induction of a colitogenic phenotype in Th1-like cells depends on interleukin-23 receptor signaling JOURNAL Immunity 55 (9), 1663-1679 (2022) PUBMED 36070768 REFERENCE 6 (residues 1 to 644) AUTHORS Chan JR, Blumenschein W, Murphy E, Diveu C, Wiekowski M, Abbondanzo S, Lucian L, Geissler R, Brodie S, Kimball AB, Gorman DM, Smith K, de Waal Malefyt R, Kastelein RA, McClanahan TK and Bowman EP. TITLE IL-23 stimulates epidermal hyperplasia via TNF and IL-20R2-dependent mechanisms with implications for psoriasis pathogenesis JOURNAL J Exp Med 203 (12), 2577-2587 (2006) PUBMED 17074928 REFERENCE 7 (residues 1 to 644) AUTHORS Langowski JL, Zhang X, Wu L, Mattson JD, Chen T, Smith K, Basham B, McClanahan T, Kastelein RA and Oft M. TITLE IL-23 promotes tumour incidence and growth JOURNAL Nature 442 (7101), 461-465 (2006) PUBMED 16688182 REFERENCE 8 (residues 1 to 644) AUTHORS Hoeve MA, Savage ND, de Boer T, Langenberg DM, de Waal Malefyt R, Ottenhoff TH and Verreck FA. TITLE Divergent effects of IL-12 and IL-23 on the production of IL-17 by human T cells JOURNAL Eur J Immunol 36 (3), 661-670 (2006) PUBMED 16482511 REFERENCE 9 (residues 1 to 644) AUTHORS Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J, Pflanz S, Zhang R, Singh KP, Vega F, To W, Wagner J, O'Farrell AM, McClanahan T, Zurawski S, Hannum C, Gorman D, Rennick DM, Kastelein RA, de Waal Malefyt R and Moore KW. TITLE A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R JOURNAL J Immunol 168 (11), 5699-5708 (2002) PUBMED 12023369 REFERENCE 10 (residues 1 to 644) AUTHORS Oppmann B, Lesley R, Blom B, Timans JC, Xu Y, Hunte B, Vega F, Yu N, Wang J, Singh K, Zonin F, Vaisberg E, Churakova T, Liu M, Gorman D, Wagner J, Zurawski S, Liu Y, Abrams JS, Moore KW, Rennick D, de Waal-Malefyt R, Hannum C, Bazan JF and Kastelein RA. TITLE Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12 JOURNAL Immunity 13 (5), 715-725 (2000) PUBMED 11114383 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124758.6 and AC159129.4. On Jul 29, 2021 this sequence version replaced NP_653131.2. CCDS Note: The coding region has been updated to extend the N-terminus. The use of an alternative upstream start codon would result in a protein that is 15 aa longer at the N-terminal. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF461423.1, BC112425.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..644 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.85 cM" Protein 1..644 /product="interleukin-23 receptor precursor" /note="IL-23 receptor" /calculated_mol_wt=70734 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2737 Site 47 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8K4B4.1)" Region 125..203 /region_name="FN3" /note="Fibronectin type 3 domain; smart00060" /db_xref="CDD:214495" Site order(125,188,203) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Site 130 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8K4B4.1)" Site 232 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8K4B4.1)" Site 375..395 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8K4B4.1)" CDS 1..644 /gene="Il23r" /gene_synonym="IL-23R" /coded_by="NM_144548.2:120..2054" /db_xref="CCDS:CCDS39503.2" /db_xref="GeneID:209590" /db_xref="MGI:MGI:2181693" ORIGIN 1 mshltlqlhv vialyvlfrw chggitsinc sgdmwvepge ifqmgmnvsi ycqealkhcr 61 prnlyfykng fkeefditri nrttariwyk gfsephaymh ctaecpghfq etlicgkdis 121 sghppdapsn ltcviyeysg nmtctwntgk ptyidtkyiv hvksleteee qqylassyvk 181 istdslqgsr kylvwvqavn slgmensqql hvhlddivip sasiisraet tndtvpktiv 241 ywksktmiek vfcemryktt tnqtwsvkef danftyvqqs efylepdsky vfqvrcqetg 301 krnwqpwssp fvhqtsqetg krnwqpwssp fvhqtsqtvs qvtaksshep qkmemlsati 361 frghpasgnh qdigllsgmv flaimlpifs ligifnrslr igikrkvllm ipkwlyedip 421 nmensnvakl lqeksvfend naseqalyvd pvlteiseis plehkptdyk eerltgllet 481 rdcplgmlst sssvvyipdl ntgykpqvsn vppggnlfin rderdptsle ttddhfarlk 541 typnfqfsas smallnktli ldelclvlnq gefnsldikn srqeetsivl qsdspsetip 601 aqtllsdefv sclaignedl psinsyfpqn vleshfsris lfqk // LOCUS NP_001348624 503 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform a [Mus musculus]. ACCESSION NP_001348624 XP_017176934 VERSION NP_001348624.1 DBSOURCE REFSEQ: accession NM_001361695.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 503) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 503) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 503) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 503) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 503) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 503) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 503) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153632.2. On Mar 29, 2018 this sequence version replaced XP_017176934.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.79505.1, SRR6116558.134883.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..503 /product="nuclear respiratory factor 1 isoform a" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=53440 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 301..476 /region_name="Required for transcriptional activation. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..502 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..503 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001361695.2:1815..3326" /note="isoform a is encoded by transcript variant 10" /db_xref="CCDS:CCDS19968.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lvqipvsmyq tvvtslaqgn gpvqvamapv 481 ttrisdsavt mdgqavevvt leq // LOCUS NP_001157700 449 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform c [Mus musculus]. ACCESSION NP_001157700 VERSION NP_001157700.1 DBSOURCE REFSEQ: accession NM_001164228.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 449) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 449) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 449) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 449) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 449) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 449) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 449) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 449) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 449) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 449) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, lacks a 3' coding exon, and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and shorter C-terminus in isoform c, compared to isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: AK050861.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMN01164137 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..449 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..449 /product="nuclear respiratory factor 1 isoform c" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=48996 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" CDS 1..449 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001164228.2:271..1620" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS51742.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnrpr wsscmdhqqs 421 rdgssgcrkd syrfwkgihy ggsnerrrs // LOCUS NP_034563 1196 aa linear ROD 09-OCT-2023 DEFINITION homeodomain-interacting protein kinase 2 isoform 2 [Mus musculus]. ACCESSION NP_034563 VERSION NP_034563.2 DBSOURCE REFSEQ: accession NM_010433.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1196) AUTHORS Wang G, Ma Z, Song C, Wang X and Zhou Z. TITLE miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis JOURNAL Cell Signal 111, 110840 (2023) PUBMED 37543099 REMARK GeneRIF: miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis. REFERENCE 2 (residues 1 to 1196) AUTHORS Zhong W, Hong C, Dong Y, Li Y, Xiao C and Liu X. TITLE ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells JOURNAL Genes (Basel) 13 (12), 2244 (2022) PUBMED 36553510 REMARK GeneRIF: ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1196) AUTHORS Zhou Q, Meng D, Li F, Zhang X, Liu L, Zhu Y, Liu S, Xu M, Deng J, Lei Z, Sluijter JPG and Xiao J. TITLE Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling JOURNAL EBioMedicine 85, 104274 (2022) PUBMED 36182775 REMARK GeneRIF: Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling. REFERENCE 4 (residues 1 to 1196) AUTHORS Cheung KL, Jaganathan A, Hu Y, Xu F, Lejeune A, Sharma R, Caescu CI, Meslamani J, Vincek A, Zhang F, Lee K, Zaware N, Qayum AA, Ren C, Kaplan MH, He JC, Xiong H and Zhou MM. TITLE HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation JOURNAL Proc Natl Acad Sci U S A 119 (14), e2117112119 (2022) PUBMED 35344430 REMARK GeneRIF: HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation. REFERENCE 5 (residues 1 to 1196) AUTHORS Yu Q, Liu L, Zhang X, Chang H, Ma S, Xie Z, Tang S, Ju X, Zhu H, Shen B and Zhang Q. TITLE MiR-221-3p targets HIPK2 to promote diabetic wound healing JOURNAL Microvasc Res 140, 104306 (2022) PUBMED 34973299 REMARK GeneRIF: MiR-221-3p targets HIPK2 to promote diabetic wound healing. REFERENCE 6 (residues 1 to 1196) AUTHORS Hofmann TG, Mincheva A, Lichter P, Droge W and Schmitz ML. TITLE Human homeodomain-interacting protein kinase-2 (HIPK2) is a member of the DYRK family of protein kinases and maps to chromosome 7q32-q34 JOURNAL Biochimie 82 (12), 1123-1127 (2000) PUBMED 11120354 REFERENCE 7 (residues 1 to 1196) AUTHORS Wang W, Link V and Green JM. TITLE Identification and cloning of a CD43-associated serine/threonine kinase JOURNAL Cell Immunol 205 (1), 34-39 (2000) PUBMED 11078605 REFERENCE 8 (residues 1 to 1196) AUTHORS Ebling FJ, Brooks AN, Cronin AS, Ford H and Kerr JB. TITLE Estrogenic induction of spermatogenesis in the hypogonadal mouse JOURNAL Endocrinology 141 (8), 2861-2869 (2000) PUBMED 10919273 REFERENCE 9 (residues 1 to 1196) AUTHORS Kim YH, Choi CY and Kim Y. TITLE Covalent modification of the homeodomain-interacting protein kinase 2 (HIPK2) by the ubiquitin-like protein SUMO-1 JOURNAL Proc Natl Acad Sci U S A 96 (22), 12350-12355 (1999) PUBMED 10535925 REFERENCE 10 (residues 1 to 1196) AUTHORS Kim YH, Choi CY, Lee SJ, Conti MA and Kim Y. TITLE Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors JOURNAL J Biol Chem 273 (40), 25875-25879 (1998) PUBMED 9748262 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154016.2, AF170302.1 and BM122543.2. On Apr 1, 2008 this sequence version replaced NP_034563.1. Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF170302.1, AF077659.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1196 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 17.85 cM" Protein 1..1196 /product="homeodomain-interacting protein kinase 2 isoform 2" /EC_number="2.7.11.1" /note="nuclear body-associated kinase 1; sialophorin tail-associated nuclear serine/threonine-protein kinase" /calculated_mol_wt=130368 Site 16 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 50..69 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 97..230 /region_name="Transcriptional corepression" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 118 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 135 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 141 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 183..537 /region_name="STKc_HIPK2" /note="Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 2; cd14227" /db_xref="CDD:271129" Region 189..520 /region_name="Interaction with DAXX. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site order(205..209,213,226,228,242,261,277..280,283,285..286, 324,326,328..329,331,346,349,359,361..364,366,403) /site_type="active" /db_xref="CDD:271129" Site order(205..209,213,226,228,261,277..280,283,324,326, 328..329,331,346) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271129" Site order(242,285,324,326,349,359,361..364,366,403) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271129" Site 252 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 273 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 345..366 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271129" Site 361 /site_type="phosphorylation" /note="Phosphotyrosine, by autocatalysis. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 441 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 482 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 517 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 539..844 /region_name="Interaction with SKI and SMAD1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 566 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 600..800 /region_name="Interaction with DAZAP2. /evidence=ECO:0000250|UniProtKB:Q9H2X6" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 634 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 668 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 687 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 752..897 /region_name="Interaction with POU4F1. /evidence=ECO:0000269|PubMed:15492043" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 774..876 /region_name="Interaction with CTBP1. /evidence=ECO:0000269|PubMed:14567915" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 787..897 /region_name="Interaction with HMGA1. /evidence=ECO:0000269|PubMed:11593421" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 792..847 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 802..805 /region_name="Nuclear localization signal 1 (NLS1). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 815 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 827 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 832..835 /region_name="Nuclear localization signal 2 (NLS2). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 839..934 /region_name="Interaction with TP53 and TP73. /evidence=ECO:0000269|PubMed:11780126" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 873..980 /region_name="Localization to nuclear speckles" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 873..980 /region_name="Required for localization to nuclear speckles. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 873..907 /region_name="Interaction with UBE2I. /evidence=ECO:0000269|PubMed:10535925" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 884..908 /region_name="SUMO interaction motifs (SIM), required for nuclear localization and kinase activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 891..963 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 923..924 /site_type="cleavage" /note="Cleavage, by CASP6. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 934 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 935..1050 /region_name="Interaction with AXIN1. /evidence=ECO:0000269|PubMed:15526030" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 984..1196 /region_name="Autoinhibitory domain (AID). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 984..985 /site_type="cleavage" /note="Cleavage, by CASP6. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Region 991..1058 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 991 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 993 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 1042 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 1153 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" Site 1186 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:23485397; propagated from UniProtKB/Swiss-Prot (Q9QZR5.2)" CDS 1..1196 /gene="Hipk2" /gene_synonym="1110014O20Rik; B230339E18Rik; Stank" /coded_by="NM_010433.2:374..3964" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS20017.2" /db_xref="GeneID:15258" /db_xref="MGI:MGI:1314872" ORIGIN 1 mapvyegmas hvqvfsphtl qssafcsvkk lkvepssnwd mtgygshskv ysqsknipps 61 qpasttvsts lpipnpslpy eqtiifpgst ghivvtsass tsvtgqvlgg phnlmrrstv 121 slldtyqkcg lkrkseeien tssvqiieeh ppmiqnnasg atvatattst atsknsgsns 181 egdyqlvqhe vlcsmtntye vleflgrgtf gqvvkcwkrg tneivaikil knhpsyarqg 241 qievsilarl stesaddynf vrayecfqhk nhtclvfeml eqnlydflkq nkfsplplky 301 irpvlqqvat almklkslgl ihadlkpeni mlvdpsrqpy rvkvidfgsa shvskavcst 361 ylqsryyrap eiilglpfce aidmwslgcv iaelflgwpl ypgaseydqi ryisqtqglp 421 aeyllsagtk ttrffnrdtd spyplwrlkt pddheaetgi kskearkyif nclddmaqvn 481 mttdlegsdm lvekadrref idllkkmlti dadkrvtpie tlnhpfvtmt hlldfphsah 541 vkscfqnmei ckrrvnmydt vnqsktpfit hvapststnl tmtfnnqltt vhnqapttss 601 atlslanpev silnyqsaly qpsaasmaav aprsmplqtg taqicarpdp fqqalivcpp 661 gfqglqasps khagysvrme navpivtqap gaqplqiqpg llaqqawpgg aqqillppaw 721 qqltgvatht svqhaavipe tmagtqqlad wrnthahgsh ynpimqqpal ltghvtlpaa 781 qplnvgvahv mrqqptstts srkskqhqss vrnvstcevt ssqaisspqr skrvkentpp 841 rcamvhsspa cstsvtcgwg dvassttrer qrqtivipdt psptvsviti ssdtdeeeeq 901 khaptstvsk qrknviscvt vhdspysdss sntspysvqq rtghngtntl dtkgglenhc 961 tgnprtiivp plktqasevl vecdslgpai sashhsssfk skssstvtst sghssgsssg 1021 aiayrqqrpg phfqqqqpln lsqaqqhmaa drtgshrrqq ayitptmaqa pytfphnsps 1081 hgtvhphlaa aahlptqphl ytytaptalg stgtvahlva sqgsarhtvq htaypasivh 1141 qvpvsmgprv lpsptihpsq ypaqfahqty isaspastvy tgyplspakv nqypyi // LOCUS NP_001392987 110 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 3 [Mus musculus]. ACCESSION NP_001392987 VERSION NP_001392987.1 DBSOURCE REFSEQ: accession NM_001406058.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 110) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 110) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 110) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 110) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 110) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 110) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 110) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 110) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 110) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 110) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR10662773.1089702.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..110 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..110 /product="bcl-2-like protein 11 isoform 3" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=12823 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 43..78 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..110 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001406058.1:221..553" /note="isoform 3 is encoded by transcript variant 7" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qasirqsqee pedlrpeiri 61 aqelrrigde fnetytrrvf andyreaedh pqmvilqllr fifrlvwrrh // LOCUS NP_001397371 894 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor NF-kappa-B p105 subunit isoform 2 [Mus musculus]. ACCESSION NP_001397371 XP_006501169 VERSION NP_001397371.1 DBSOURCE REFSEQ: accession NM_001410442.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 894) AUTHORS Lin LL, Song GJ, Zhang H, Yin Y, Xin SM, Ding L and Li Y. TITLE GPR34 Knockdown Relieves Cognitive Deficits and Suppresses Neuroinflammation in Alzheimer's Disease via the ERK/NF-kappaB Signal JOURNAL Neuroscience 528, 129-139 (2023) PUBMED 37557947 REMARK GeneRIF: GPR34 Knockdown Relieves Cognitive Deficits and Suppresses Neuroinflammation in Alzheimer's Disease via the ERK/NF-kappaB Signal. REFERENCE 2 (residues 1 to 894) AUTHORS Harding O, Holzer E, Riley JF, Martens S and Holzbaur ELF. TITLE Damaged mitochondria recruit the effector NEMO to activate NF-kappaB signaling JOURNAL Mol Cell 83 (17), 3188-3204 (2023) PUBMED 37683611 REMARK GeneRIF: Damaged mitochondria recruit the effector NEMO to activate NF-kappaB signaling. REFERENCE 3 (residues 1 to 894) AUTHORS Zhuang L, Zong X, Yang Q, Fan Q and Tao R. TITLE Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization JOURNAL EBioMedicine 95, 104744 (2023) PUBMED 37556943 REMARK GeneRIF: Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization. REFERENCE 4 (residues 1 to 894) AUTHORS Mao W, Wang X, Zhang Y, Zhu H, Dai L and Chen J. TITLE Nuclear factor-kappa B p50-induced microRNA-20a-3p plays a detrimental role in sepsis-induced acute kidney injury JOURNAL Cell Mol Biol (Noisy-le-grand) 69 (8), 198-202 (2023) PUBMED 37715384 REMARK GeneRIF: Nuclear factor-kappa B p50-induced microRNA-20a-3p plays a detrimental role in sepsis-induced acute kidney injury. Publication Status: Online-Only REFERENCE 5 (residues 1 to 894) AUTHORS Verma M, Verma D, Sripada AS, Sirohi K, Varma R, Sahu A and Alam R. TITLE NFkappaB1 inhibits memory formation and supports effector function of ILC2s in memory-driven asthma JOURNAL Front Immunol 14, 1217776 (2023) PUBMED 37575259 REMARK GeneRIF: NFkappaB1 inhibits memory formation and supports effector function of ILC2s in memory-driven asthma. Publication Status: Online-Only REFERENCE 6 (residues 1 to 894) AUTHORS Wulczyn FG, Naumann M and Scheidereit C. TITLE Candidate proto-oncogene bcl-3 encodes a subunit-specific inhibitor of transcription factor NF-kappa B JOURNAL Nature 358 (6387), 597-599 (1992) PUBMED 1501714 REFERENCE 7 (residues 1 to 894) AUTHORS Inoue J, Kerr LD, Kakizuka A and Verma IM. TITLE I kappa B gamma, a 70 kd protein identical to the C-terminal half of p110 NF-kappa B: a new member of the I kappa B family JOURNAL Cell 68 (6), 1109-1120 (1992) PUBMED 1339305 REFERENCE 8 (residues 1 to 894) AUTHORS Ryseck RP, Bull P, Takamiya M, Bours V, Siebenlist U, Dobrzanski P and Bravo R. TITLE RelB, a new Rel family transcription activator that can interact with p50-NF-kappa B JOURNAL Mol Cell Biol 12 (2), 674-684 (1992) PUBMED 1732739 REFERENCE 9 (residues 1 to 894) AUTHORS Nolan GP, Ghosh S, Liou HC, Tempst P and Baltimore D. TITLE DNA binding and I kappa B inhibition of the cloned p65 subunit of NF-kappa B, a rel-related polypeptide JOURNAL Cell 64 (5), 961-969 (1991) PUBMED 2001591 REFERENCE 10 (residues 1 to 894) AUTHORS Ghosh S, Gifford AM, Riviere LR, Tempst P, Nolan GP and Baltimore D. TITLE Cloning of the p50 DNA binding subunit of NF-kappa B: homology to rel and dorsal JOURNAL Cell 62 (5), 1019-1029 (1990) PUBMED 2203532 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC101973.7 and AC110164.26. On Aug 8, 2022 this sequence version replaced XP_006501169.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422586.557221.1, SRR13422600.150448.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..894 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 62.82 cM" Protein 1..894 /product="nuclear factor NF-kappa-B p105 subunit isoform 2" /note="nuclear factor NF-kappa-B p105 subunit; EBP-1; DNA-binding factor KBF1; NF-kappa-B1 p84/NF-kappa-B1 p98; nuclear factor of kappa light chain gene enhancer in B-cells 1, p105; NF kappaB1; NF-kappaB p50; p50 subunit of NF kappaB; nuclear factor kappaB p50" /calculated_mol_wt=97283 Region 40..241 /region_name="RHD-n_NFkB1" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of kappa B1 (NF-kappa B1); cd07935" /db_xref="CDD:143651" Site order(54,56..57,59..60,63..66,141,143..144,241) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143651" Region 248..349 /region_name="IPT_NFkappaB" /note="IPT domain of the transcription factor NFkappaB and related transcription factors. NFkappaB is considered a central regulator of stress responses, activated by different stressful conditions, including physical stress, oxidative stress, and exposure to...; cd01177" /db_xref="CDD:238582" Site order(249,251..253,255..257,297..299,312,324,343,346,348) /site_type="other" /note="ankyrin protein binding site [polypeptide binding]" /db_xref="CDD:238582" Site order(251..252,254,267,269,271,304..305,308,310) /site_type="other" /note="dimerization interface [polypeptide binding]" /db_xref="CDD:238582" Site order(272,274,305..306) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238582" Site 335 /site_type="phosphorylation" /note="Phosphoserine, by PKA. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 358..363 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 370..392 /region_name="GRR. /evidence=ECO:0000250|UniProtKB:P19838" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 431..432 /site_type="cleavage" /note="Cleavage (when cotranslationally processed). /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 438 /site_type="acetylation" /note="N6-acetyllysine, by EP300. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 439..470 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Site 447 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region <534..608 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site order(538,540,544..545,548..550,552..553,557,560,575,577, 579,583..584,587..589,591..592,596,599,608,610,612, 616..617,620..622,624..625,629,632) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 538..575 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 577..608 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 582..676 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site order(646,648,652..653,656..658,660..661,665,668,677,680, 682,686..687,690..692,694..695,700,703,712,714,716, 720..721,724..726,728) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 646..680 /region_name="Essential for interaction with HIF1AN. /evidence=ECO:0000250|UniProtKB:P19838" /note="propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 646..677 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 651..>727 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:432791" Site 674 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine, by HIF1AN. /evidence=ECO:0000250|UniProtKB:P19838; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 680..712 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site 755 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q63369; propagated from UniProtKB/Swiss-Prot (P25799.2)" Region 812..>865 /region_name="DD" /note="Death Domain Superfamily of protein-protein interaction domains; cl14633" /db_xref="CDD:449339" CDS 1..894 /gene="Nfkb1" /gene_synonym="NF-kappaB; NF-kappaB1; NF-KB1; p105; p50; p50/p105" /coded_by="NM_001410442.1:421..3105" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:18033" /db_xref="MGI:MGI:97312" ORIGIN 1 madddpygtg qmfhlntalt hsifnaelys peiplstdgp ylqileqpkq rgfrfryvce 61 gpshgglpga sseknkksyp qvkicnyvgp akvivqlvtn gknihlhahs lvgkhcedgv 121 ctvtagpkdm vvgfanlgil hvtkkkvfet learmteaci rgynpgllvh sdlaylqaeg 181 ggdrqltdre keiirqaavq qtkemdlsvv rlmftaflpd stgsftrrle pvvsdaiyds 241 kapnasnlki vrmdrtagcv tggeeiyllc dkvqkddiqi rfyeeeengg vwegfgdfsp 301 tdvhrqfaiv fktpkykdvn itkpasvfvq lrrksdlets epkpflyype ikdkeevqrk 361 rqklmpnfsd sfgggsgaga ggggmfgsgg gggstgspgp gygysnygfp pyggitfhpg 421 vtksnagvth gtintkfkng pkdcaksdde esltlpeket egegpslpma ctktepiala 481 stmedkeqdm gfqdnlflek alqlarrhan alfdyavtgd vkmllavqrh ltavqdengd 541 svlhlaiihl haqlvrdlle vtsglisddi inmrndlyqt plhlavitkq edvvedllrv 601 gadlslldrw gnsvlhlaak eghdrilsil lksrkaapli dhpngeglna ihiavmsnsl 661 pcllllvaag aevnaqeqks grtalhlave ydnislagcl llegdahvds ttydgttplh 721 iaagrgstrl aallkaagad plvenfeply dlddswekag edegvvpgtt pldmaanwqv 781 fdilngkpye pvftsddilp qgdmkqlted trlqlcklle ipdpdknwat laqklglgil 841 nnafrlspap sktlmdnyem nsgivtasvt vvwrhpsans alqsllleta hcyl // LOCUS NP_001349224 505 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 20 [Mus musculus]. ACCESSION NP_001349224 XP_017173281 VERSION NP_001349224.1 DBSOURCE REFSEQ: accession NM_001362295.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 505) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 505) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 505) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 505) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 505) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 505) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 505) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 505) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 505) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 505) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173281.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.3929425.1, SRR1660815.227794.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..505 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..505 /product="CUGBP Elav-like family member 4 isoform 20" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53878 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 416..494 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..505 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362295.1:531..2048" /note="isoform 20 is encoded by transcript variant 26" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgnvissk vfvdratnqs kcfgfvsfdn pasaqtaiqa 481 mngfqigmkr lkvqlkrpkd anrpy // LOCUS NP_001349239 492 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 32 [Mus musculus]. ACCESSION NP_001349239 VERSION NP_001349239.1 DBSOURCE REFSEQ: accession NM_001362310.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 492) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 492) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 492) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 492) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 492) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 492) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 492) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 492) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 492) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 492) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.113226.1, SRR1660813.152403.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..492 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..492 /product="CUGBP Elav-like family member 4 isoform 32" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=52317 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..481 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..492 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362310.1:531..2009" /note="isoform 32 is encoded by transcript variant 36" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfaapggpve tqalvprvsp gfvsfdnpas aqtaiqamng fqigmkrlkv 481 qlkrpkdanr py // LOCUS NP_001239405 353 aa linear ROD 09-OCT-2023 DEFINITION protein arginine N-methyltransferase 1 isoform 2 [Mus musculus]. ACCESSION NP_001239405 VERSION NP_001239405.1 DBSOURCE REFSEQ: accession NM_001252476.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 353) AUTHORS Ye H, Cao L, Jackson-Weaver O, Zheng L and Gou Y. TITLE PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling JOURNAL Bone 176, 116887 (2023) PUBMED 37634683 REMARK GeneRIF: PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling. REFERENCE 2 (residues 1 to 353) AUTHORS Zhu Y, Wang L, Liu R, Ding X, Yin S, Chen Y, Zhu C, Wang Z and Li W. TITLE Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways JOURNAL FEBS Open Bio 13 (10), 1859-1873 (2023) PUBMED 37525933 REMARK GeneRIF: Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways. REFERENCE 3 (residues 1 to 353) AUTHORS Litzler LC, Zahn A, Dionne KL, Sprumont A, Ferreira SR, Slattery MRF, Methot SP, Patenaude AM, Hebert S, Kabir N, Subramani PG, Jung S, Richard S, Kleinman CL and Di Noia JM. TITLE Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice JOURNAL J Exp Med 220 (9) (2023) PUBMED 37310381 REMARK GeneRIF: Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice. REFERENCE 4 (residues 1 to 353) AUTHORS Li Q, Jiao J, Heng Y, Lu Q, Zheng Y, Li H, Cai J, Mei M and Bao S. TITLE Prmt5 promotes ciliated cell specification of airway epithelial progenitors via transcriptional inhibition of Tp63 JOURNAL J Biol Chem 299 (8), 104964 (2023) PUBMED 37364687 REFERENCE 5 (residues 1 to 353) AUTHORS Liu J, Bu X, Chu C, Dai X, Asara JM, Sicinski P, Freeman GJ and Wei W. TITLE PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity JOURNAL Nat Commun 14 (1), 2806 (2023) PUBMED 37193698 REMARK GeneRIF: PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 353) AUTHORS Cimato TR, Tang J, Xu Y, Guarnaccia C, Herschman HR, Pongor S and Aletta JM. TITLE Nerve growth factor-mediated increases in protein methylation occur predominantly at type I arginine methylation sites and involve protein arginine methyltransferase 1 JOURNAL J Neurosci Res 67 (4), 435-442 (2002) PUBMED 11835310 REMARK GeneRIF: Type I protein arginine methyltransferase (PRMT) activity produces asymmetric dimethylation of the terminal guanidinonitrogen of arginines in substrate proteins, particularly glycine and arginine-rich (GAR) segments of proteins REFERENCE 7 (residues 1 to 353) AUTHORS Pawlak MR, Scherer CA, Chen J, Roshon MJ and Ruley HE. TITLE Arginine N-methyltransferase 1 is required for early postimplantation mouse development, but cells deficient in the enzyme are viable JOURNAL Mol Cell Biol 20 (13), 4859-4869 (2000) PUBMED 10848611 REFERENCE 8 (residues 1 to 353) AUTHORS Brady KP, Rowe LB, Her H, Stevens TJ, Eppig J, Sussman DJ, Sikela J and Beier DR. TITLE Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis JOURNAL Genome Res 7 (11), 1085-1093 (1997) PUBMED 9371744 REFERENCE 9 (residues 1 to 353) AUTHORS Scherer CA, Chen J, Nachabeh A, Hopkins N and Ruley HE. TITLE Transcriptional specificity of the pluripotent embryonic stem cell JOURNAL Cell Growth Differ 7 (10), 1393-1401 (1996) PUBMED 8891343 REFERENCE 10 (residues 1 to 353) AUTHORS Lin WJ, Gary JD, Yang MC, Clarke S and Herschman HR. TITLE The mammalian immediate-early TIS21 protein and the leukemia-associated BTG1 protein interact with a protein-arginine N-methyltransferase JOURNAL J Biol Chem 271 (25), 15034-15044 (1996) PUBMED 8663146 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU524421.1, AK152342.1, BY760714.1 and AI846916.1. Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK152342.1, AK146927.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..353 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 29.07 cM" Protein 1..353 /product="protein arginine N-methyltransferase 1 isoform 2" /EC_number="2.1.1.319" /note="arginine N-methyltransferase 1; histone-arginine N-methyltransferase PRMT1; heterogeneous nuclear ribonucleoproteins methyltransferase-like 2" /calculated_mol_wt=40391 Region 74..174 /region_name="AdoMet_MTases" /note="S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy); cd02440" /db_xref="CDD:100107" Site order(77..83,100,104,126..128,145) /site_type="other" /note="S-adenosylmethionine binding site [chemical binding]" /db_xref="CDD:100107" CDS 1..353 /gene="Prmt1" /gene_synonym="6720434D09Rik; Hrmt1l2; Mrmt1" /coded_by="NM_001252476.1:103..1164" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS57547.1" /db_xref="GeneID:15469" /db_xref="MGI:MGI:107846" ORIGIN 1 maaaeaanci mevscgqaes sekpnaedmt skdyyfdsya hfgiheemlk devrtltyrn 61 smfhnrhlfk dkvvldvgsg tgilcmfaak agarkvigie cssisdyavk ivkankldhv 121 vtiikgkvee velpvekvdi iisewmgycl fyesmlntvl hardkwlapd glifpdratl 181 yvtaiedrqy kdykihwwen vygfdmscik dvaikeplvd vvdpkqlvtn aclikevdiy 241 tvkvedltft spfclqvkrn dyvhalvayf nieftrchkr tgfstspesp ythwkqtvfy 301 medyltvktg eeifgtigmr pnaknnrdld ftidldfkgq lcelscstdy rmr // LOCUS NP_067336 507 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 1 [Mus musculus]. ACCESSION NP_067336 XP_001472308 XP_001472341 XP_001472371 XP_917587 XP_927504 VERSION NP_067336.1 DBSOURCE REFSEQ: accession NM_021361.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 507) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 507) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 507) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 507) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 507) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 507) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 507) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 507) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 507) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 507) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BM942596.1, AW491473.1, AC108802.15 and CT009504.11. On or before Aug 20, 2009 this sequence version replaced XP_917587.1, XP_927504.1, XP_001472308.1, XP_001472341.1, XP_001472371.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF232828.1, SRR6116558.152448.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164136 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..507 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..507 /product="RNA-binding protein Nova-1 isoform 1" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=51625 Region 1..44 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 27..43 /region_name="Bipartite nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 49..121 /region_name="KH-I_NOVA_rpt1" /note="first type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22435" /db_xref="CDD:411863" Site order(61..63,65..69,72..73,83..85,87..89,98) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411863" Region 139..171 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Site 154 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:15933722; propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 172..241 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(183..185,187..191,194..195,205..207,209..211,219) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 419..503 /region_name="Required for RNA binding. /evidence=ECO:0000250|UniProtKB:P51513" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 422..492 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(430..431,433..435,437..441,444..445,455..461,463, 468,470) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..507 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_021361.2:17..1540" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS49058.1" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mmaaapiqqn gthtgvpidl dppdsrkrpl eappeagstk rtntgedgqy flkvlipsya 61 agsiigkggq tivqlqketg atiklskskd fypgttervc liqgtiealn avhgfiaeki 121 rempqnvakt epvsilqpqt tvnpdrikqt lpssptttks spsdpmttsr anqvkiivpn 181 stagliigkg gatvkaimeq sgawvqlsqk pdginlqerv vtvsgepeqn rkaveliiqk 241 iqedpqsgsc lnisyanvtg pvansnptgs pyantaevlp taaaaagllg hanlagvaaf 301 pavlsgftgn dlvaitsaln tlasygynln tlglglsqaa atgalaaaaa sanpaaaaan 361 llatyaseas asgstaggta gtfalgslaa ataatngyfg aasplaasai lgtekstdgs 421 kdvveiavpe nlvgailgkg gktlveyqel tgariqiskk gefvpgtrnr kvtitgtpaa 481 tqaaqylitq rityeqgvra anpqkvg // LOCUS NP_001295195 748 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 4 [Mus musculus]. ACCESSION NP_001295195 VERSION NP_001295195.1 DBSOURCE REFSEQ: accession NM_001308266.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 748) AUTHORS Zhang XL, Hollander CM, Khan MY, D'silva M, Ma H, Yang X, Bai R, Keeter CK, Galkina EV, Nadler JL and Stanton PK. TITLE Myeloid cell deficiency of the inflammatory transcription factor Stat4 protects long-term synaptic plasticity from the effects of a high-fat, high-cholesterol diet JOURNAL Commun Biol 6 (1), 967 (2023) PUBMED 37783748 REMARK GeneRIF: Myeloid cell deficiency of the inflammatory transcription factor Stat4 protects long-term synaptic plasticity from the effects of a high-fat, high-cholesterol diet. Publication Status: Online-Only REFERENCE 2 (residues 1 to 748) AUTHORS Keeter WC, Moriarty AK, Akers R, Ma S, Mussbacher M, Nadler JL and Galkina EV. TITLE Neutrophil-specific STAT4 deficiency attenuates atherosclerotic burden and improves plaque stability via reduction in neutrophil activation and recruitment into aortas of Ldlr-/- mice JOURNAL Front Cardiovasc Med 10, 1175673 (2023) PUBMED 37396582 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 748) AUTHORS Buzzelli AA, McWilliams IL, Shin B, Bryars MT and Harrington LE. TITLE Intrinsic STAT4 Expression Controls Effector CD4 T Cell Migration and Th17 Pathogenicity JOURNAL J Immunol 210 (11), 1667-1676 (2023) PUBMED 37093664 REFERENCE 4 (residues 1 to 748) AUTHORS Hildreth AD, Padilla ET, Tafti RY, Legala AR and O'Sullivan TE. TITLE Sterile liver injury induces a protective tissue-resident cDC1-ILC1 circuit through cDC1-intrinsic cGAS-STING-dependent IL-12 production JOURNAL Cell Rep 42 (2), 112141 (2023) PUBMED 36807146 REFERENCE 5 (residues 1 to 748) AUTHORS Liang Y, Pan HF and Ye DQ. TITLE Therapeutic potential of STAT4 in autoimmunity JOURNAL Expert Opin Ther Targets 18 (8), 945-960 (2014) PUBMED 24844303 REMARK Review article REFERENCE 6 (residues 1 to 748) AUTHORS Wang Y, Feng D, Wang H, Xu MJ, Park O, Li Y and Gao B. TITLE STAT4 knockout mice are more susceptible to concanavalin A-induced T-cell hepatitis JOURNAL Am J Pathol 184 (6), 1785-1794 (2014) PUBMED 24731448 REFERENCE 7 (residues 1 to 748) AUTHORS Copeland NG, Gilbert DJ, Schindler C, Zhong Z, Wen Z, Darnell JE Jr, Mui AL, Miyajima A, Quelle FW, Ihle JN et al. TITLE Distribution of the mammalian Stat gene family in mouse chromosomes JOURNAL Genomics 29 (1), 225-228 (1995) PUBMED 8530075 REFERENCE 8 (residues 1 to 748) AUTHORS Yamamoto K, Quelle FW, Thierfelder WE, Kreider BL, Gilbert DJ, Jenkins NA, Copeland NG, Silvennoinen O and Ihle JN. TITLE Stat4, a novel gamma interferon activation site-binding protein expressed in early myeloid differentiation JOURNAL Mol Cell Biol 14 (7), 4342-4349 (1994) PUBMED 8007943 REFERENCE 9 (residues 1 to 748) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 REFERENCE 10 (residues 1 to 748) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3: a STAT family member activated by tyrosine phosphorylation in response to epidermal growth factor and interleukin-6 JOURNAL Science 264 (5155), 95-98 (1994) PUBMED 8140422 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK132675.1 and BF020635.1. Summary: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. Homozygous knockout mice for this gene exhibit reduced inflammation and cytokine production in response to immune challenge. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK132675.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..748 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.67 cM" Protein 1..748 /product="signal transducer and activator of transcription 4" /calculated_mol_wt=85723 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Region 140..312 /region_name="STAT4_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4); cd16854" /db_xref="CDD:341079" Site order(141..164,208..234,258..279) /site_type="other" /note="coiled-coil motif" /db_xref="CDD:341079" Region 316..473 /region_name="STAT4_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4); cd16848" /db_xref="CDD:341086" Region 553..700 /region_name="SH2_STAT4" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins; cd10375" /db_xref="CDD:198238" Site order(580,598,624,626) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198238" Site order(625,641) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198238" Site order(635..636,698) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198238" Site 667 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" Site 693 /site_type="phosphorylation" /note="Phosphotyrosine, by JAK. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" Site 721 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q14765; propagated from UniProtKB/Swiss-Prot (P42228.1)" CDS 1..748 /gene="Stat4" /coded_by="NM_001308266.1:163..2409" /db_xref="CCDS:CCDS14943.1" /db_xref="GeneID:20849" /db_xref="MGI:MGI:103062" ORIGIN 1 msqwnqvqql eikfleqvdq fyddnfpmei rhllaqwiet qdwevasnne tmatillqnl 61 liqldeqlgr vskeknllli hnlkrirkvl qgkfhgnpmh vavvisnclr eerrilaaan 121 mpiqgpleks lqsssvserq rnvehkvsai knsvqmteqd tkyledlqde fdyryktiqt 181 mdqgdknsil vnqevltlqe mlnsldfkrk ealskmtqiv netdllmnsm lleelqdwkk 241 rqqiaciggp lhngldqlqn cftllaeslf qlrqqleklq eqstkmtyeg dpipaqrahl 301 leratfliyn lfknsfvver qpcmpthpqr pmvlktliqf tvklrllikl pelnyqvkvk 361 asidknvstl snrrfvlcgt hvkamssees sngslsvefr hlqpkemkcs tgskgnegch 421 mvteelhsit fetqiclygl tinletsslp vvmisnvsql pnawasiiwy nvstndsqnl 481 vffnnppsvt lgqllevmsw qfssyvgrgl nseqlnmlae kltvqsnynd ghltwakfck 541 ehlpgktftf wtwleaildl ikkhilplwi dgyimgfvsk ekerlllkdk mpgtfllrfs 601 eshlggitft wvdqsengev rfhsvepynk grlsalpfad ilrdykvima enipenplky 661 lypdipkdka fgkhyssqpc evsrptergd kgyvpsvfip istirsdste pqspsdllpm 721 spsayavlre nlspttieta mnspysae // LOCUS NP_001349231 500 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 26 [Mus musculus]. ACCESSION NP_001349231 VERSION NP_001349231.1 DBSOURCE REFSEQ: accession NM_001362302.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 500) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 500) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 500) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 500) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 500) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 500) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 500) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 500) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 500) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 500) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.26101.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..500 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..500 /product="CUGBP Elav-like family member 4 isoform 26" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53328 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..226 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,221, 223) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 411..489 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..500 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362302.1:531..2033" /note="isoform 26 is encoded by transcript variant 31" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpvs vtlggasssl vvkfadtdke rtmrrmqqma 241 gqmgmfnpma ipfgaygaya qalmqqqaal masvaqggyl npmaafaaaq mqqmaalnmn 301 glaaapmtpt sggstppgit apavpsipsp igvngftglp pqangqpaae avfangihpy 361 paqsptaadp lqqayagvqq yagpaypaay gqisqafpqp ppmipqqqre gpegcnlliy 421 hlpqefgdae lmqmflpfgn visskvfvdr atnqskcfgf vsfdnpasaq taiqamngfq 481 igmkrlkvql krpkdanrpy // LOCUS NP_001397156 515 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform f [Mus musculus]. ACCESSION NP_001397156 XP_011239350 VERSION NP_001397156.1 DBSOURCE REFSEQ: accession NM_001410227.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 515) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 515) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 515) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 515) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 515) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 515) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 515) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 515) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_011239350.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.1080274.1, SRR13422598.696525.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..515 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..515 /product="nuclear respiratory factor 1 isoform f" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=54726 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 462..514 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..515 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410227.1:274..1821" /note="isoform f is encoded by transcript variant 17" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglvqipvsm yqtvvtslaq 481 gngpvqvama pvttrisdsa vtmdgqavev vtleq // LOCUS NP_064393 2549 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein kinase mTOR [Mus musculus]. ACCESSION NP_064393 XP_207023 VERSION NP_064393.2 DBSOURCE REFSEQ: accession NM_020009.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2549) AUTHORS Chen Y, Dufour CR, Han L, Li T, Xia H and Giguere V. TITLE Hierarchical Phosphorylation of HOXB13 by mTOR Dictates Its Activity and Oncogenic Function in Prostate Cancer JOURNAL Mol Cancer Res 21 (10), 1050-1063 (2023) PUBMED 37409967 REMARK GeneRIF: Hierarchical Phosphorylation of HOXB13 by mTOR Dictates Its Activity and Oncogenic Function in Prostate Cancer. REFERENCE 2 (residues 1 to 2549) AUTHORS Kushima Y, Sato Y, Kobayashi T, Fukuma Y, Matsumoto M, Nakamura M, Iwamoto T and Miyamoto T. TITLE TNFalpha-dependent mTOR activity is required for tenotomy-induced ectopic ossification in mice JOURNAL J Bone Miner Metab 41 (5), 583-591 (2023) PUBMED 37261543 REMARK GeneRIF: TNFalpha-dependent mTOR activity is required for tenotomy-induced ectopic ossification in mice. REFERENCE 3 (residues 1 to 2549) AUTHORS Qian C, Lu J, Che X, Min L, Wang M, Song A, Lu R, Gu L and Xie K. TITLE P2X7R/AKT/mTOR signaling mediates high glucose-induced decrease in podocyte autophagy JOURNAL Free Radic Biol Med 204, 337-346 (2023) PUBMED 37245531 REMARK GeneRIF: P2X7R/AKT/mTOR signaling mediates high glucose-induced decrease in podocyte autophagy. REFERENCE 4 (residues 1 to 2549) AUTHORS Shi F and Collins S. TITLE Regulation of mTOR Signaling: Emerging Role of Cyclic Nucleotide-Dependent Protein Kinases and Implications for Cardiometabolic Disease JOURNAL Int J Mol Sci 24 (14), 11497 (2023) PUBMED 37511253 REMARK GeneRIF: Regulation of mTOR Signaling: Emerging Role of Cyclic Nucleotide-Dependent Protein Kinases and Implications for Cardiometabolic Disease. Review article Publication Status: Online-Only REFERENCE 5 (residues 1 to 2549) AUTHORS Li P, Hao X, Liu J, Zhang Q, Liang Z, Li X and Liu H. TITLE miR-29a-3p Regulates Autophagy by Targeting Akt3-Mediated mTOR in SiO2-Induced Lung Fibrosis JOURNAL Int J Mol Sci 24 (14), 11440 (2023) PUBMED 37511199 REMARK GeneRIF: miR-29a-3p Regulates Autophagy by Targeting Akt3-Mediated mTOR in SiO2-Induced Lung Fibrosis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 2549) AUTHORS Hentges KE, Sirry B, Gingeras AC, Sarbassov D, Sonenberg N, Sabatini D and Peterson AS. TITLE FRAP/mTOR is required for proliferation and patterning during embryonic development in the mouse JOURNAL Proc Natl Acad Sci U S A 98 (24), 13796-13801 (2001) PUBMED 11707573 REFERENCE 7 (residues 1 to 2549) AUTHORS Liu JJ and Wilson SE. TITLE Characterization of human and mouse angiopoietin-like factor CDT6 promoters JOURNAL Invest Ophthalmol Vis Sci 42 (12), 2776-2783 (2001) PUBMED 11687517 REFERENCE 8 (residues 1 to 2549) AUTHORS Hentges K, Thompson K and Peterson A. TITLE The flat-top gene is required for the expansion and regionalization of the telencephalic primordium JOURNAL Development 126 (8), 1601-1609 (1999) PUBMED 10079223 REFERENCE 9 (residues 1 to 2549) AUTHORS Cohen,J.S. TITLE Provide fluoxetine information vital to clinicians JOURNAL J Clin Psychiatry 56 (12), 591 (1995) PUBMED 8530339 REFERENCE 10 (residues 1 to 2549) AUTHORS Chiu MI, Katz H and Berlin V. TITLE RAPT1, a mammalian homolog of yeast Tor, interacts with the FKBP12/rapamycin complex JOURNAL Proc Natl Acad Sci U S A 91 (26), 12574-12578 (1994) PUBMED 7809080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ130100.1 and BC112904.1. On Apr 22, 2009 this sequence version replaced NP_064393.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC112904.1, AF152838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2549 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 78.76 cM" Protein 1..2549 /product="serine/threonine-protein kinase mTOR" /EC_number="2.7.11.1" /note="angiopoietin-like factor CDT6; rapamycin target protein 1; mammalian target of rapamycin; FKBP12-rapamycin complex-associated protein; FK506-binding protein 12-rapamycin complex-associated protein 1; FK506 binding protein 12-rapamycin associated protein 1; FKBP-rapamycin associated protein (FRAP); mechanistic target of rapamycin (serine/threonine kinase)" /calculated_mol_wt=288660 Region 1..651 /region_name="Interaction with NBN. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 363..2549 /region_name="TEL1" /note="Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]; COG5032" /db_xref="CDD:227365" Site 567 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 637..683 /region_name="HEAT 16" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 655..681 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 686..724 /region_name="HEAT 17" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 691..721 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 727..766 /region_name="HEAT 18" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 729..759 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 769..811 /region_name="HEAT 19" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 772..805 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 814..853 /region_name="HEAT 20" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 817..847 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 857..893 /region_name="HEAT 21" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 894..942 /region_name="HEAT 22" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 943..988 /region_name="HEAT 23" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 955..981 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Site order(969..970,973,980..981,1010..1011,1014,1017..1018, 1021,1050..1051,1054,1057..1058,1061,1091..1092,1095, 1098..1099,1133..1134,1137,1140..1141) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:293787" Region 989..1027 /region_name="HEAT 24" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 993..1021 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 1029..1068 /region_name="HEAT 25" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1033..1062 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 1069..1105 /region_name="HEAT 26" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1073..1099 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 1106..1144 /region_name="HEAT 27" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1111..1142 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Region 1145..1188 /region_name="HEAT 28" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1154..1180 /region_name="HEAT repeat" /note="HEAT repeat [structural motif]" /db_xref="CDD:293787" Site 1162 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1189..1225 /region_name="HEAT 29" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 1218 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1226..1273 /region_name="HEAT 30" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 1261 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:19487463, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1274..1311 /region_name="HEAT 31" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1312..1345 /region_name="HEAT 32" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1346..1382 /region_name="TPR 1" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1383..1408 /region_name="TPR 2" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1409..1442 /region_name="TPR 3" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1443..1473 /region_name="TPR 4" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1474..1507 /region_name="TPR 5" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1508..1541 /region_name="TPR 6" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1542..1574 /region_name="TPR 7" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1575..1614 /region_name="TPR 8" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1615..1649 /region_name="TPR 9" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1650..1693 /region_name="TPR 10" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1694..1731 /region_name="TPR 11" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1732..1786 /region_name="TPR 12" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1787..1846 /region_name="TPR 13" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1825..1867 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1898..1930 /region_name="TPR 14" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1931..1970 /region_name="TPR 15" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 1971..2005 /region_name="TPR 16" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 2012..2144 /region_name="Sufficient for interaction with the FKBP1A/rapamycin complex" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2159 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 2162..2168 /region_name="G-loop. /evidence=ECO:0000255|PROSITE-ProRule:PRU00269" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2164 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2173 /site_type="phosphorylation" /note="Phosphothreonine, by PKB/AKT1. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 2258..2296 /region_name="Interaction with MLST8. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 2335..2343 /region_name="Catalytic loop. /evidence=ECO:0000255|PROSITE-ProRule:PRU00269" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Region 2355..2380 /region_name="Activation loop. /evidence=ECO:0000255|PROSITE-ProRule:PRU00269" /note="propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2446 /site_type="phosphorylation" /note="Phosphothreonine, by RPS6KB1. /evidence=ECO:0000250|UniProtKB:P42345; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2448 /site_type="phosphorylation" /note="Phosphoserine, by RPS6KB1. /evidence=ECO:0000269|PubMed:24187137, ECO:0000269|PubMed:26359501; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2478 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" Site 2481 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q9JLN9.2)" CDS 1..2549 /gene="Mtor" /gene_synonym="2610315D21Rik; flat; FRAP; Frap1; FRAP2; RAFT1; RAPT1" /coded_by="NM_020009.2:121..7770" /db_xref="CCDS:CCDS18937.1" /db_xref="GeneID:56717" /db_xref="MGI:MGI:1928394" ORIGIN 1 mlgtgpavat asaatssnvs vlqqfasglk srneetraka akelqhyvtm elremsqees 61 trfydqlnhh ifelvsssda nerkggilai asligveggn strigrfany lrnllpssdp 121 vvmemaskai grlamagdtf taeyvefevk ralewlgadr negrrhaavl vlrelaisvp 181 tfffqqvqpf fdnifvavwd pkqairegav aalraclilt tqrepkemqk pqwyrhtfee 241 aekgfdetla kekgmnrddr ihgallilne lvrissmege rlreemeeit qqqlvhdkyc 301 kdlmgfgtkp rhitpftsfq avqpqqpnal vgllgysspq glmgfgtsps pakstlvesr 361 ccrdlmeekf dqvcqwvlkc rssknsliqm tilnllprla afrpsaftdt qylqdtmnhv 421 lscvkkeker taafqalgll svavrsefkv ylprvldiir aalppkdfah krqktvqvda 481 tvftcismla ramgpgiqqd ikellepmla vglspaltav lydlsrqipq lkkdiqdgll 541 kmlslvlmhk plrhpgmpkg lahqlaspgl ttlpeasdva sitlalrtlg sfefeghslt 601 qfvrhcadhf lnsehkeirm eaartcsrll tpsihlisgh ahvvsqtavq vvadvlskll 661 vvgitdpdpd irycvlasld erfdahlaqa enlqalfval ndqvfeirel aictvgrlss 721 mnpafvmpfl rkmliqilte lehsgigrik eqsarmlghl vsnaprlirp ymepilkali 781 lklkdpdpdp npgvinnvla tigelaqvsg lemrkwvdel fiiimdmlqd ssllakrqva 841 lwtlgqlvas tgyvvepyrk yptllevlln flkteqnqgt rreairvlgl lgaldpykhk 901 vnigmidqsr dasavslses kssqdssdys tsemlvnmgn lpldefypav smvalmrifr 961 dqslshhhtm vvqaitfifk slglkcvqfl pqvmptflnv irvcdgaire flfqqlgmlv 1021 sfvkshirpy mdeivtlmre fwvmntsiqs tiillieqiv valggefkly lpqliphmlr 1081 vfmhdnsqgr ivsikllaai qlfganlddy lhlllppivk lfdapevplp srkaaletvd 1141 rltesldftd yasriihpiv rtldqspelr stamdtlssl vfqlgkkyqi fipmvnkvlv 1201 rhrinhqryd vlicrivkgy tladeeedpl iyqhrmlrss qgdalasgpv etgpmkklhv 1261 stinlqkawg aarrvskddw lewlrrlsle llkdssspsl rscwalaqay npmardlfna 1321 afvscwseln edqqdelirs ielaltsqdi aevtqtllnl aefmehsdkg plplrddngi 1381 vllgeraakc rayakalhyk elefqkgptp aileslisin nklqqpeaas gvleyamkhf 1441 geleiqatwy eklhewedal vaydkkmdtn kedpelmlgr mrclealgew gqlhqqccek 1501 wtlvndetqa kmarmaaaaa wglgqwdsme eytcmiprdt hdgafyravl alhqdlfsla 1561 qqcidkardl ldaeltamag esysraygam vschmlsele eviqyklvpe rreiirqiww 1621 erlqgcqriv edwqkilmvr slvvsphedm rtwlkyaslc gksgrlalah ktlvlllgvd 1681 psrqldhplp tahpqvtyay mknmwksark idafqhmqhf vqtmqqqaqh aiatedqqhk 1741 qelhklmarc flklgewqln lqginestip kvlqyysaat ehdrswykaw hawavmnfea 1801 vlhykhqnqa rdekkklrha sganitnatt aattaasaaa atstegsnse seaesnensp 1861 tpsplqkkvt edlsktllly tvpavqgffr sislsrgnnl qdtlrvltlw fdyghwpdvn 1921 ealvegvkai qidtwlqvip qliaridtpr plvgrlihql ltdigryhpq aliypltvas 1981 kstttarhna ankilknmce hsntlvqqam mvseelirva ilwhemwheg leeasrlyfg 2041 ernvkgmfev leplhammer gpqtlketsf nqaygrdlme aqewcrkymk sgnvkdltqa 2101 wdlyyhvfrr iskqlpqlts lelqyvspkl lmcrdlelav pgtydpnqpi iriqsiapsl 2161 qvitskqrpr kltlmgsngh efvfllkghe dlrqdervmq lfglvntlla ndptslrknl 2221 siqryavipl stnsgligwv phcdtlhali rdyrekkkil lniehrimlr mapdydhltl 2281 mqkvevfeha vnntagddla kllwlkspss evwfdrrtny trslavmsmv gyilglgdrh 2341 psnlmldrls gkilhidfgd cfevamtrek fpekipfrlt rmltnamevt gldgnyrttc 2401 htvmevlreh kdsvmavlea fvydpllnwr lmdtntkgnk rsrtrtdsys agqsveildg 2461 velgepahkk agttvpesih sfigdglvkp ealnkkaiqi inrvrdkltg rdfshddtld 2521 vptqvellik qatshenlcq cyigwcpfw // LOCUS NP_001349240 486 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 33 [Mus musculus]. ACCESSION NP_001349240 XP_006525577 VERSION NP_001349240.1 DBSOURCE REFSEQ: accession NM_001362311.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 486) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 486) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 486) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 486) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 486) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 486) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 486) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 486) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 486) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 486) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_006525577.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.161091.1, SRR1660813.219515.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..486 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..486 /product="CUGBP Elav-like family member 4 isoform 33" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51801 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 417..475 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..486 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362311.1:531..1991" /note="isoform 33 is encoded by transcript variant 37" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregpeg 421 cnlliyhlpq efgdaelmqm flpfgfvsfd npasaqtaiq amngfqigmk rlkvqlkrpk 481 danrpy // LOCUS NP_001157709 317 aa linear ROD 09-OCT-2023 DEFINITION E3 ubiquitin-protein ligase NRDP1 [Mus musculus]. ACCESSION NP_001157709 VERSION NP_001157709.1 DBSOURCE REFSEQ: accession NM_001164237.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 317) AUTHORS Luo ZY, Jiang TX, Zhang T, Xu P and Qiu XB. TITLE Ubiquitin Ligase Nrdp1 Controls Autophagy-Associated Acrosome Biogenesis and Mitochondrial Arrangement during Spermiogenesis JOURNAL Cells 12 (18), 2211 (2023) PUBMED 37759433 REMARK GeneRIF: Ubiquitin Ligase Nrdp1 Controls Autophagy-Associated Acrosome Biogenesis and Mitochondrial Arrangement during Spermiogenesis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 317) AUTHORS Moreno-Lanceta A, Medrano-Bosch M, Fundora Y, Perramon M, Aspas J, Parra-Robert M, Baena S, Fondevila C, Edelman ER, Jimenez W and Melgar-Lesmes P. TITLE RNF41 orchestrates macrophage-driven fibrosis resolution and hepatic regeneration JOURNAL Sci Transl Med 15 (704), eabq6225 (2023) PUBMED 37437019 REMARK GeneRIF: RNF41 orchestrates macrophage-driven fibrosis resolution and hepatic regeneration. REFERENCE 3 (residues 1 to 317) AUTHORS Meng Z, Xu R, Xie L, Wu Y, He Q, Gao P, He X, Chen Q, Xie Q, Zhang J and Yang Q. TITLE A20/Nrdp1 interaction alters the inflammatory signaling profile by mediating K48- and K63-linked polyubiquitination of effectors MyD88 and TBK1 JOURNAL J Biol Chem 297 (1), 100811 (2021) PUBMED 34023381 REMARK GeneRIF: A20/Nrdp1 interaction alters the inflammatory signaling profile by mediating K48- and K63-linked polyubiquitination of effectors MyD88 and TBK1. REFERENCE 4 (residues 1 to 317) AUTHORS Tullett KM, Tan PS, Park HY, Schittenhelm RB, Michael N, Li R, Policheni AN, Gruber E, Huang C, Fulcher AJ, Danne JC, Czabotar PE, Wakim LM, Mintern JD, Ramm G, Radford KJ, Caminschi I, O'Keeffe M, Villadangos JA, Wright MD, Blewitt ME, Heath WR, Shortman K, Purcell AW, Nicola NA, Zhang JG and Lahoud MH. TITLE RNF41 regulates the damage recognition receptor Clec9A and antigen cross-presentation in mouse dendritic cells JOURNAL Elife 9, e63452 (2020) PUBMED 33264090 REMARK GeneRIF: RNF41 regulates the damage recognition receptor Clec9A and antigen cross-presentation in mouse dendritic cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 317) AUTHORS Yang M, Chen T, Li X, Yu Z, Tang S, Wang C, Gu Y, Liu Y, Xu S, Li W, Zhang X, Wang J and Cao X. TITLE K33-linked polyubiquitination of Zap70 by Nrdp1 controls CD8(+) T cell activation JOURNAL Nat Immunol 16 (12), 1253-1262 (2015) PUBMED 26390156 REMARK GeneRIF: Data suggest that ring finger protein 41 Nrdp1 terminates T cell antigen receptors (TCRs) signaling by inactivating Zap70 kinase. Erratum:[Nat Immunol. 2020 Mar;21(3):355. PMID: 32034311] REFERENCE 6 (residues 1 to 317) AUTHORS Wu X, Yen L, Irwin L, Sweeney C and Carraway KL 3rd. TITLE Stabilization of the E3 ubiquitin ligase Nrdp1 by the deubiquitinating enzyme USP8 JOURNAL Mol Cell Biol 24 (17), 7748-7757 (2004) PUBMED 15314180 REFERENCE 7 (residues 1 to 317) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 8 (residues 1 to 317) AUTHORS Qiu XB and Goldberg AL. TITLE Nrdp1/FLRF is a ubiquitin ligase promoting ubiquitination and degradation of the epidermal growth factor receptor family member, ErbB3 JOURNAL Proc Natl Acad Sci U S A 99 (23), 14843-14848 (2002) PUBMED 12411582 REMARK Erratum:[Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17220.] REFERENCE 9 (residues 1 to 317) AUTHORS Ogino Y, Suzuki K, Haraguchi R, Satoh Y, Dolle P and Yamada G. TITLE External genitalia formation: role of fibroblast growth factor, retinoic acid signaling, and distal urethral epithelium JOURNAL Ann N Y Acad Sci 948, 13-31 (2001) PUBMED 11795391 REFERENCE 10 (residues 1 to 317) AUTHORS Abdullah JM, Li X, Nachtman RG and Jurecic R. TITLE FLRF, a novel evolutionarily conserved RING finger gene, is differentially expressed in mouse fetal and adult hematopoietic stem cells and progenitors JOURNAL Blood Cells Mol Dis 27 (1), 320-333 (2001) PUBMED 11358394 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK045760.1, AK028551.1 and BC049078.1. Transcript Variant: This variant (1) represents the longest transcript which encodes a functional protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.105364.1, SRR1660821.132955.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..317 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 76.55 cM" Protein 1..317 /product="E3 ubiquitin-protein ligase NRDP1" /EC_number="2.3.2.27" /note="RING-type E3 ubiquitin transferase NRDP1" /calculated_mol_wt=35760 Region 15..57 /region_name="mRING-HC-C3HC3D_Nrdp1" /note="Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins; cd16634" /db_xref="CDD:438296" Region 137..315 /region_name="USP8_interact" /note="USP8 interacting; pfam08941" /db_xref="CDD:430333" CDS 1..317 /gene="Rnf41" /gene_synonym="2210404G21Rik; 4930511A05Rik; 4933415P08Rik; D10Ertd722e; FLRF; Nrdp1" /coded_by="NM_001164237.1:417..1370" /db_xref="CCDS:CCDS24277.1" /db_xref="GeneID:67588" /db_xref="MGI:MGI:1914838" ORIGIN 1 mgydvtrfqg dvdedlicpi csgvleepvq aphcehafcn acitqwfsqq qtcpvdrsvv 61 tvahlrpvpr imrnmlsklq iacdnavfgc savvrldnlm shlsdcehnp krpvtceqgc 121 glempkdelp nhncikhlrs vvqqqqsria elektsaehk hqlaeqkrdi qllkaymrai 181 rsvnpnlqnl eetieyneil ewvnslqpar vtrwggmist pdavlqavik rslvesgcpa 241 sivneliena herswpqgla tletrqmnrr yyenyvakri pgkqavvvma cenqhmgddm 301 vqepglvmif ahgveei // LOCUS NP_035032 597 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor erythroid 2-related factor 2 isoform 1 [Mus musculus]. ACCESSION NP_035032 VERSION NP_035032.1 DBSOURCE REFSEQ: accession NM_010902.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 597) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 597) AUTHORS Dong C, Li J, Tang Q, Wang Y, Zeng C, Du L and Sun Q. TITLE Denervation aggravates renal ischemia reperfusion injury via BMAL1-mediated Nrf2/ARE pathway JOURNAL Arch Biochem Biophys 746, 109736 (2023) PUBMED 37657745 REMARK GeneRIF: Denervation aggravates renal ischemia reperfusion injury via BMAL1-mediated Nrf2/ARE pathway. REFERENCE 3 (residues 1 to 597) AUTHORS Vaikunthanathan T, Landmann E, Correa DM, Romano M, Trevelin SC, Peng Q, Crespo E, Corrado M, Lozano JJ, Pearce EL, Perpinan E, Zoccarato A, Siew L, Edwards-Hicks J, Khan R, Luu NT, Thursz MR, Newsome PN, Martinez-Llordella M, Shah N, Lechler RI, Shah AM, Sanchez-Fueyo A, Lombardi G and Safinia N. TITLE Dysregulated anti-oxidant signalling and compromised mitochondrial integrity negatively influence regulatory T cell function and viability in liver disease JOURNAL EBioMedicine 95, 104778 (2023) PUBMED 37657135 REFERENCE 4 (residues 1 to 597) AUTHORS You T, Zhao Y, Liu S and Xu H. TITLE Lactiplantibacillus plantarum P101 Attenuated Cyclophosphamide-Induced Liver Injury in Mice by Regulating the Nrf2/ARE Signaling Pathway JOURNAL Int J Mol Sci 24 (17), 13424 (2023) PUBMED 37686229 REMARK GeneRIF: Lactiplantibacillus plantarum P101 Attenuated Cyclophosphamide-Induced Liver Injury in Mice by Regulating the Nrf2/ARE Signaling Pathway. Publication Status: Online-Only REFERENCE 5 (residues 1 to 597) AUTHORS Wakabayashi N, Yagishita Y, Joshi T and Kensler TW. TITLE Forced Hepatic Expression of NRF2 or NQO1 Impedes Hepatocyte Lipid Accumulation in a Lipodystrophy Mouse Model JOURNAL Int J Mol Sci 24 (17), 13345 (2023) PUBMED 37686150 REMARK GeneRIF: Forced Hepatic Expression of NRF2 or NQO1 Impedes Hepatocyte Lipid Accumulation in a Lipodystrophy Mouse Model. Publication Status: Online-Only REFERENCE 6 (residues 1 to 597) AUTHORS Yehiely F, Bamborough P, Da Costa M, Perry BJ, Thinakaran G, Cohen FE, Carlson GA and Prusiner SB. TITLE Identification of candidate proteins binding to prion protein JOURNAL Neurobiol Dis 3 (4), 339-355 (1997) PUBMED 9173930 REMARK Erratum:[Neurobiol Dis 2002 Jun;10(1):67-8] REFERENCE 7 (residues 1 to 597) AUTHORS Chan K, Lu R, Chang JC and Kan YW. TITLE NRF2, a member of the NFE2 family of transcription factors, is not essential for murine erythropoiesis, growth, and development JOURNAL Proc Natl Acad Sci U S A 93 (24), 13943-13948 (1996) PUBMED 8943040 REFERENCE 8 (residues 1 to 597) AUTHORS Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M and Igarashi K. TITLE Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site JOURNAL Mol Cell Biol 16 (11), 6083-6095 (1996) PUBMED 8887638 REFERENCE 9 (residues 1 to 597) AUTHORS Shivdasani RA and Orkin SH. TITLE Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2 JOURNAL Proc Natl Acad Sci U S A 92 (19), 8690-8694 (1995) PUBMED 7567998 REFERENCE 10 (residues 1 to 597) AUTHORS Chui DH, Tang W and Orkin SH. TITLE cDNA cloning of murine Nrf 2 gene, coding for a p45 NF-E2 related transcription factor JOURNAL Biochem Biophys Res Commun 209 (1), 40-46 (1995) PUBMED 7726861 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL772404.5. Summary: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC026943.1, AK142347.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN01164133 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..597 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 44.75 cM" Protein 1..597 /product="nuclear factor erythroid 2-related factor 2 isoform 1" /note="nuclear factor erythroid 2-related factor 2; NFE2-related factor 2; NF-E2-related factor 2" /calculated_mol_wt=66770 Region 29..31 /region_name="DLG motif. /evidence=ECO:0000305|PubMed:15581590, ECO:0000305|PubMed:16581765, ECO:0000305|PubMed:16790436" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 40 /site_type="phosphorylation" /note="Phosphoserine, by PKC. /evidence=ECO:0000250|UniProtKB:O54968; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Region 79..82 /region_name="ETGE motif. /evidence=ECO:0000305|PubMed:15282312, ECO:0000305|PubMed:16581765, ECO:0000305|PubMed:16790436" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 207 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Region 327..440 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 454 /site_type="glycosylation" /note="N-linked (Glc) (glycation) lysine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 464 /site_type="glycosylation" /note="N-linked (Glc) (glycation) lysine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 479 /site_type="glycosylation" /note="N-linked (Glc) (glycation) lysine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Region 486..553 /region_name="bZIP_NFE2-like" /note="Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain; cd14720" /db_xref="CDD:269868" Region 487..549 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:269868" Region 491..510 /region_name="Basic motif. /evidence=ECO:0000255|PROSITE-ProRule:PRU00978" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 491 /site_type="glycosylation" /note="N-linked (Glc) (glycation) arginine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site order(495..496,498..500,502..507,509..511) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:269868" Site order(510,513..514,517..518,520..521,524..525,527..528, 531..532,534..535,538..539,541..542) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:269868" Region 514..521 /region_name="Leucine-zipper. /evidence=ECO:0000255|PROSITE-ProRule:PRU00978" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 561 /site_type="glycosylation" /note="N-linked (Glc) (glycation) arginine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Region 563..597 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 566 /site_type="glycosylation" /note="N-linked (Glc) (glycation) lysine. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Region 583..588 /region_name="Mediates interaction with CHD6 and is necessary to activate transcription. /evidence=ECO:0000250|UniProtKB:O54968" /note="propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 588 /site_type="acetylation" /note="N6-acetyllysine, by CREBBP. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" Site 591 /site_type="acetylation" /note="N6-acetyllysine, by CREBBP. /evidence=ECO:0000250|UniProtKB:Q16236; propagated from UniProtKB/Swiss-Prot (Q60795.2)" CDS 1..597 /gene="Nfe2l2" /gene_synonym="Nrf2" /coded_by="NM_010902.5:109..1902" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS16150.1" /db_xref="GeneID:18024" /db_xref="MGI:MGI:108420" ORIGIN 1 mmdlelpppg lqsqqdmdli dilwrqdidl gvsrevfdfs qrqkdyelek qkklekerqe 61 qlqkeqekaf faqfqldeet geflpiqpaq hiqtdtsgsa sysqvahipk qdalyfedcm 121 qllaetfpfv ddheslaldi pshaessvft aphqaqslns sleaamtdls sieqdmeqvw 181 qelfsipelq clntenkqla dttavpspea tltemdsnyh fyssisslek evgncgphfl 241 hgfedsfssi lstddasqlt sldsnptlnt dfgdefysaf iaepsdggsm pssaaisqsl 301 selldgtieg cdlslckafn pkhaegtmef ndsdsgisln tspsraspeh svessiygdp 361 ppgfsdseme eldsapgsvk qngpkaqpah spgdtvqpls paqghsapmr esqcenttkk 421 evpvspghqk apftkdkhss rleahltrde lrakalhipf pvekiinlpv ddfnemmske 481 qfneaqlali rdirrrgknk vaaqncrkrk leniveleqd lghlkderek llrekgendr 541 nlhllkrrls tlylevfsml rdedgkpysp seyslqqtrd gnvflvpksk kpdtkkn // LOCUS NP_001152977 240 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor ligand superfamily member 13 isoform 2 [Mus musculus]. ACCESSION NP_001152977 VERSION NP_001152977.1 DBSOURCE REFSEQ: accession NM_001159505.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 240) AUTHORS Doll JR, Moreno-Fernandez ME, Stankiewicz TE, Wayland JL, Wilburn A, Weinhaus B, Chougnet CA, Giordano D, Cappelletti M, Presicce P, Kallapur SG, Salomonis N, Tilburgs T and Divanovic S. TITLE BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth JOURNAL Cell Rep 42 (4), 112352 (2023) PUBMED 37027297 REMARK GeneRIF: BAFF and APRIL counterregulate susceptibility to inflammation-induced preterm birth. REFERENCE 2 (residues 1 to 240) AUTHORS Sturm N, Roger-Margueritat M, Pierrel F, Lehours P, Genevay M and Huard B. TITLE Spatial heterogeneity for APRIL production by eosinophils in the small intestine JOURNAL J Leukoc Biol 113 (4), 376-382 (2023) PUBMED 36808499 REMARK GeneRIF: Spatial heterogeneity for APRIL production by eosinophils in the small intestine. REFERENCE 3 (residues 1 to 240) AUTHORS Tsiantoulas D, Eslami M, Obermayer G, Clement M, Smeets D, Mayer FJ, Kiss MG, Enders L, Weisser J, Goderle L, Lambert J, Frommlet F, Mueller A, Hendrikx T, Ozsvar-Kozma M, Porsch F, Willen L, Afonyushkin T, Murphy JE, Fogelstrand P, Donze O, Pasterkamp G, Hoke M, Kubicek S, Jorgensen HF, Danchin N, Simon T, Scharnagl H, Marz W, Boren J, Hess H, Mallat Z, Schneider P and Binder CJ. TITLE APRIL limits atherosclerosis by binding to heparan sulfate proteoglycans JOURNAL Nature 597 (7874), 92-96 (2021) PUBMED 34433968 REFERENCE 4 (residues 1 to 240) AUTHORS Chan CC, Harley ITW, Pfluger PT, Trompette A, Stankiewicz TE, Allen JL, Moreno-Fernandez ME, Damen MSMA, Oates JR, Alarcon PC, Doll JR, Flick MJ, Flick LM, Sanchez-Gurmaches J, Mukherjee R, Karns R, Helmrath M, Inge TH, Weisberg SP, Pamp SJ, Relman DA, Seeley RJ, Tschop MH, Karp CL and Divanovic S. TITLE A BAFF/APRIL axis regulates obesogenic diet-driven weight gain JOURNAL Nat Commun 12 (1), 2911 (2021) PUBMED 34006859 REMARK GeneRIF: A BAFF/APRIL axis regulates obesogenic diet-driven weight gain. Publication Status: Online-Only REFERENCE 5 (residues 1 to 240) AUTHORS Benet Z, Jing Z and Fooksman DR. TITLE Plasma cell dynamics in the bone marrow niche JOURNAL Cell Rep 34 (6), 108733 (2021) PUBMED 33567286 REFERENCE 6 (residues 1 to 240) AUTHORS Varfolomeev E, Kischkel F, Martin F, Seshasayee D, Wang H, Lawrence D, Olsson C, Tom L, Erickson S, French D, Schow P, Grewal IS and Ashkenazi A. TITLE APRIL-deficient mice have normal immune system development JOURNAL Mol Cell Biol 24 (3), 997-1006 (2004) PUBMED 14729948 REFERENCE 7 (residues 1 to 240) AUTHORS MacLennan I and Vinuesa C. TITLE Dendritic cells, BAFF, and APRIL: innate players in adaptive antibody responses JOURNAL Immunity 17 (3), 235-238 (2002) PUBMED 12354377 REMARK GeneRIF: Review. Dendritic cell-derived TNF-family ligand APRIL enhances plasmablast survival and differentiation to plasma cells. Review article REFERENCE 8 (residues 1 to 240) AUTHORS Stein JV, Lopez-Fraga M, Elustondo FA, Carvalho-Pinto CE, Rodriguez D, Gomez-Caro R, De Jong J, Martinez-A C, Medema JP and Hahne M. TITLE APRIL modulates B and T cell immunity JOURNAL J Clin Invest 109 (12), 1587-1598 (2002) PUBMED 12070306 REFERENCE 9 (residues 1 to 240) AUTHORS Locksley RM, Killeen N and Lenardo MJ. TITLE The TNF and TNF receptor superfamilies: integrating mammalian biology JOURNAL Cell 104 (4), 487-501 (2001) PUBMED 11239407 REMARK Review article REFERENCE 10 (residues 1 to 240) AUTHORS Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, McCabe S, Qiu WR, Kornuc M, Xia XZ, Guo J, Stolina M, Boyle WJ, Sarosi I, Hsu H, Senaldi G and Theill LE. TITLE APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity JOURNAL Nat Immunol 1 (3), 252-256 (2000) PUBMED 10973284 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK009514.1, AK134028.1 and AL603707.5. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks one internal aa, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK134028.1, AK170351.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..240 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 42.86 cM" Protein 1..240 /product="tumor necrosis factor ligand superfamily member 13 isoform 2" /note="a proliferation-inducing ligand; tumor necrosis factor ligand 7b" /calculated_mol_wt=26687 Site 95..96 /site_type="cleavage" /note="Cleavage, by furin. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q9D777.1)" Region 108..238 /region_name="TNF" /note="Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal...; cd00184" /db_xref="CDD:238108" Site order(110,154,156,202,207,234,238) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:238108" Site 115 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9D777.1)" Site order(129..130,135,169,176,181) /site_type="active" /note="receptor binding sites [active]" /db_xref="CDD:238108" CDS 1..240 /gene="Tnfsf13" /gene_synonym="2310026N09Rik; April; Tall2; Tnlg7b; Trdl1" /coded_by="NM_001159505.1:296..1018" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS48827.1" /db_xref="GeneID:69583" /db_xref="MGI:MGI:1916833" ORIGIN 1 mpasspghmg gsvrepalsv alwlswgavl gavtcavall iqqtelqslr revsrlqrsg 61 gpsqkqgerp wqslweqspd vleawkdgak srrrravltq khkkkhsvlh lvpvnitskd 121 sdvtevmwqp vlrrgrglea qgdivrvwdt giyllysqvl fhdvtftmgq vvsregqgrr 181 etlfrcirsm psdpdrayns cysagvfhlh qgdiitvkip ranaklslsp hgtflgfvkl // LOCUS NP_001349238 493 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 31 [Mus musculus]. ACCESSION NP_001349238 VERSION NP_001349238.1 DBSOURCE REFSEQ: accession NM_001362309.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 493) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 493) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 493) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 493) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 493) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 493) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 493) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 493) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 493) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 493) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660825.66861.1, SRR1660813.91201.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..493 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..493 /product="CUGBP Elav-like family member 4 isoform 31" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=52658 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 404..482 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..493 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362309.1:531..2012" /note="isoform 31 is encoded by transcript variant 35" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl liyhlpqefg 421 daelmqmflp fgnvisskvf vdratnqskc fgfvsfdnpa saqtaiqamn gfqigmkrlk 481 vqlkrpkdan rpy // LOCUS NP_001157701 531 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform d [Mus musculus]. ACCESSION NP_001157701 VERSION NP_001157701.1 DBSOURCE REFSEQ: accession NM_001164229.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 531) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 531) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 531) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 531) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 531) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 531) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 531) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 531) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 531) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 531) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, contains an alternate 5' coding exon, and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and longer C-terminus in isoform d, compared to isoform a. Variants 4 and 15 both encode the same isoform (d). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK135673.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..531 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..531 /product="nuclear respiratory factor 1 isoform d" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=56962 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..531 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001164229.2:651..2246" /note="isoform d is encoded by transcript variant 4" /db_xref="CCDS:CCDS51739.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglgspvlpe imasktrgyr 481 hscgrdlyrl fsffllyskn nerillapat sgspcfyvrn iitirvgils s // LOCUS NP_659168 347 aa linear ROD 09-OCT-2023 DEFINITION histone deacetylase 11 [Mus musculus]. ACCESSION NP_659168 VERSION NP_659168.1 DBSOURCE REFSEQ: accession NM_144919.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 347) AUTHORS Baek SY, Lee J, Kim T, Lee H, Choi HS, Park H, Koh M, Kim E, Jung ME, Iliopoulos D, Lee JY, Kim J and Lee S. TITLE Development of a novel histone deacetylase inhibitor unveils the role of HDAC11 in alleviating depression by inhibition of microglial activation JOURNAL Biomed Pharmacother 166, 115312 (2023) PUBMED 37567072 REMARK GeneRIF: Development of a novel histone deacetylase inhibitor unveils the role of HDAC11 in alleviating depression by inhibition of microglial activation. REFERENCE 2 (residues 1 to 347) AUTHORS Wu H, Yin X, Zhao X, Wu Z, Xiao Y, Di Q, Sun P, Tang H, Quan J and Chen W. TITLE HDAC11 negatively regulates antifungal immunity by inhibiting Nos2 expression via binding with transcriptional repressor STAT3 JOURNAL Redox Biol 56, 102461 (2022) PUBMED 36087429 REMARK GeneRIF: HDAC11 negatively regulates antifungal immunity by inhibiting Nos2 expression via binding with transcriptional repressor STAT3. REFERENCE 3 (residues 1 to 347) AUTHORS Bagchi RA, Robinson EL, Hu T, Cao J, Hong JY, Tharp CA, Qasim H, Gavin KM, Pires da Silva J, Major JL, McConnell BK, Seto E, Lin H and McKinsey TA. TITLE Reversible lysine fatty acylation of an anchoring protein mediates adipocyte adrenergic signaling JOURNAL Proc Natl Acad Sci U S A 119 (7) (2022) PUBMED 35149557 REFERENCE 4 (residues 1 to 347) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 347) AUTHORS Chen J, Cheng F, Sahakian E, Powers J, Wang Z, Tao J, Seto E, Pinilla-Ibarz J and Sotomayor EM. TITLE HDAC11 regulates expression of C/EBPbeta and immunosuppressive molecules in myeloid-derived suppressor cells JOURNAL J Leukoc Biol 109 (5), 891-900 (2021) PUBMED 33866588 REMARK GeneRIF: HDAC11 regulates expression of C/EBPbeta and immunosuppressive molecules in myeloid-derived suppressor cells. REFERENCE 6 (residues 1 to 347) AUTHORS Liu H, Hu Q, Kaufman A, D'Ercole AJ and Ye P. TITLE Developmental expression of histone deacetylase 11 in the murine brain JOURNAL J Neurosci Res 86 (3), 537-543 (2008) PUBMED 17893925 REMARK GeneRIF: Role for HDAC11 in central nervous system histone deacetylation and the development of oligodendrocytes and neurons during postnatal development. REFERENCE 7 (residues 1 to 347) AUTHORS Izzi L, Silvestri C, von Both I, Labbe E, Zakin L, Wrana JL and Attisano L. TITLE Foxh1 recruits Gsc to negatively regulate Mixl1 expression during early mouse development JOURNAL EMBO J 26 (13), 3132-3143 (2007) PUBMED 17568773 REFERENCE 8 (residues 1 to 347) AUTHORS Kuninger D, Kuzmickas R, Peng B, Pintar JE and Rotwein P. TITLE Gene discovery by microarray: identification of novel genes induced during growth factor-mediated muscle cell survival and differentiation JOURNAL Genomics 84 (5), 876-889 (2004) PUBMED 15475267 REFERENCE 9 (residues 1 to 347) AUTHORS Pang AL, Taylor HC, Johnson W, Alexander S, Chen Y, Su YA, Li X, Ravindranath N, Dym M, Rennert OM and Chan WY. TITLE Identification of differentially expressed genes in mouse spermatogenesis JOURNAL J Androl 24 (6), 899-911 (2003) PUBMED 14581517 REFERENCE 10 (residues 1 to 347) AUTHORS Verdin E, Dequiedt F and Kasler HG. TITLE Class II histone deacetylases: versatile regulators JOURNAL Trends Genet 19 (5), 286-293 (2003) PUBMED 12711221 REMARK Review article COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC110256.12 and AC131764.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016208.1, AK045994.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..347 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 40.38 cM" Protein 1..347 /product="histone deacetylase 11" /EC_number="3.5.1.98" /note="HD11" /calculated_mol_wt=39026 Region 14..318 /region_name="Histone deacetylase" /note="propagated from UniProtKB/Swiss-Prot (Q91WA3.1)" Region 35..319 /region_name="HDAC_classIV" /note="Histone deacetylase class IV also known as histone deacetylase 11; cd09993" /db_xref="CDD:212519" Site order(41,140..143,151..153,181,183,257,261,301..302,304) /site_type="active" /note="putative active site [active]" /db_xref="CDD:212519" CDS 1..347 /gene="Hdac11" /coded_by="NM_144919.2:32..1075" /db_xref="CCDS:CCDS20366.1" /db_xref="GeneID:232232" /db_xref="MGI:MGI:2385252" ORIGIN 1 mphatqlyqh vpekrwpivy sprynitfmg leklhpfdag kwgkvinflk eekllsdgml 61 veareaseed llvvhtrryl nelkwsfvva titeippvif lpnflvqrkv lrplrtqtgg 121 timagklave rgwainvggg fhhcssdrgg gfcayaditl aikflferve gisratiidl 181 dahqgngher dfmgdkrvyi mdvynrhiyp gdrfakeair rkvelewgte deeylekver 241 nvrrslqehl pdvvvynagt dvlegdrlgg lsispagivk rdevvfrvvr ahdipilmvt 301 sggyqkrtar iiadsilnlh dlgligpefp cvsaqnsgip llscavp // LOCUS NP_001351355 483 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 7 [Mus musculus]. ACCESSION NP_001351355 VERSION NP_001351355.1 DBSOURCE REFSEQ: accession NM_001364426.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 483) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 483) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 483) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 483) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 483) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 483) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 483) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 483) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 483) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 483) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK141037.1, SRR1660813.161391.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849377 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..483 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..483 /product="pro-neuregulin-1, membrane-bound isoform isoform 7" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=52346 Region 327..>483 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..483 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364426.1:641..2092" /note="isoform 7 is encoded by transcript variant 7" /db_xref="CCDS:CCDS90383.1" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfykhlgi efmeaeelyq 301 krvltitgic iallvvgimc vvaycktkkq rqklhdrlrq slrsernnmv niangphhpn 361 pppenvqlvn qyvsknviss ehiverevet sfstshytst ahhsttvtqt pshswsnght 421 esiiseshsv immssvensr hsspaggprg rlhglggpre cnsflrhare tpdsyrdsph 481 ser // LOCUS NP_001397164 479 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform k [Mus musculus]. ACCESSION NP_001397164 VERSION NP_001397164.1 DBSOURCE REFSEQ: accession NM_001410235.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 479) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 479) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 479) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 479) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 479) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 479) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 479) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 479) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 479) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 479) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422601.356247.1, ERR3363657.53708.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..479 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..479 /product="nuclear respiratory factor 1 isoform k" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=51067 Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..479 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410235.1:274..1713" /note="isoform k is encoded by transcript variant 25" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lfmadcggyk wilarrlqvg sslgregss // LOCUS NP_057888 624 aa linear ROD 09-OCT-2023 DEFINITION kelch-like ECH-associated protein 1 [Mus musculus]. ACCESSION NP_057888 VERSION NP_057888.1 DBSOURCE REFSEQ: accession NM_016679.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 624) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 624) AUTHORS Baird L, Taguchi K, Zhang A, Takahashi Y, Suzuki T, Kensler TW and Yamamoto M. TITLE A NRF2-induced secretory phenotype activates immune surveillance to remove irreparably damaged cells JOURNAL Redox Biol 66, 102845 (2023) PUBMED 37597423 REFERENCE 3 (residues 1 to 624) AUTHORS Zhang A, Suzuki T, Adachi S, Yoshida E, Sakaguchi S and Yamamoto M. TITLE Nrf2 activation improves experimental rheumatoid arthritis JOURNAL Free Radic Biol Med 207, 279-295 (2023) PUBMED 37494986 REMARK GeneRIF: Nrf2 activation improves experimental rheumatoid arthritis. REFERENCE 4 (residues 1 to 624) AUTHORS Ushimoto C, Sugiki S, Kunii K, Inoue S, Kuroda E, Akai R, Iwawaki T and Miyazawa K. TITLE Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation JOURNAL Free Radic Biol Med 207, 120-132 (2023) PUBMED 37451369 REMARK GeneRIF: Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation. REFERENCE 5 (residues 1 to 624) AUTHORS Zhou M, Barkema HW, Gao J, Yang J, Wang Y, Kastelic JP, Khan S, Liu G and Han B. TITLE MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands JOURNAL Vet Res 54 (1), 78 (2023) PUBMED 37710276 REMARK GeneRIF: MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands. Publication Status: Online-Only REFERENCE 6 (residues 1 to 624) AUTHORS Zipper LM and Mulcahy RT. TITLE The Keap1 BTB/POZ dimerization function is required to sequester Nrf2 in cytoplasm JOURNAL J Biol Chem 277 (39), 36544-36552 (2002) PUBMED 12145307 REFERENCE 7 (residues 1 to 624) AUTHORS Dinkova-Kostova AT, Holtzclaw WD, Cole RN, Itoh K, Wakabayashi N, Katoh Y, Yamamoto M and Talalay P. TITLE Direct evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants JOURNAL Proc Natl Acad Sci U S A 99 (18), 11908-11913 (2002) PUBMED 12193649 REMARK GeneRIF: evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants REFERENCE 8 (residues 1 to 624) AUTHORS Kotilinek LA, Bacskai B, Westerman M, Kawarabayashi T, Younkin L, Hyman BT, Younkin S and Ashe KH. TITLE Reversible memory loss in a mouse transgenic model of Alzheimer's disease JOURNAL J Neurosci 22 (15), 6331-6335 (2002) PUBMED 12151510 REFERENCE 9 (residues 1 to 624) AUTHORS Itoh K, Wakabayashi N, Katoh Y, Ishii T, Igarashi K, Engel JD and Yamamoto M. TITLE Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain JOURNAL Genes Dev 13 (1), 76-86 (1999) PUBMED 9887101 REFERENCE 10 (residues 1 to 624) AUTHORS Chu CC and Paul WE. TITLE Expressed genes in interleukin-4 treated B cells identified by cDNA representational difference analysis JOURNAL Mol Immunol 35 (8), 487-502 (1998) PUBMED 9798653 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC163637.4, AK076234.1 and BY586021.1. Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2, 3, and 4 all encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.234071.1, AK076234.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..624 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 7.74 cM" Protein 1..624 /product="kelch-like ECH-associated protein 1" /note="NRF2 cytosolic inhibitor; cytosolic inhibitor of Nrf2; ring canal protein" /calculated_mol_wt=69422 Region 56..180 /region_name="BTB_POZ_KLHL19_KEAP1" /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1); cd18248" /db_xref="CDD:349557" Region 95..596 /region_name="PHA03098" /note="kelch-like protein; Provisional" /db_xref="CDD:222983" Site order(106,109..110,115..117,125..126,157,161..162) /site_type="other" /note="cullin binding site [polypeptide binding]" /db_xref="CDD:349557" Site order(129,131..132,147..148,150..151,154) /site_type="other" /note="modulator binding site [chemical binding]" /db_xref="CDD:349557" Site 151 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:18268004, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 257 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000250|UniProtKB:Q14145; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 273 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 288 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 327..372 /region_name="Kelch 1" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 362..409 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 373..423 /region_name="Kelch 2" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 413..456 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 424..470 /region_name="Kelch 3" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 434 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:20498371; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 460..503 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 471..517 /region_name="Kelch 4" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 507..551 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 519..564 /region_name="Kelch 5" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 554..597 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 565..611 /region_name="Kelch 6" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" CDS 1..624 /gene="Keap1" /gene_synonym="INRF2; mKIAA0132" /coded_by="NM_016679.4:1624..3498" /db_xref="CCDS:CCDS22897.1" /db_xref="GeneID:50868" /db_xref="MGI:MGI:1858732" ORIGIN 1 mqpepklsga prssqflplw skcpegagda vmyastecka evtpsqdgnr tfsytledht 61 kqafgvmnel rlsqqlcdvt lqvkyedipa aqfmahkvvl assspvfkam ftnglreqgm 121 evvsiegihp kvmerliefa ytasisvgek cvlhvmngav myqidsvvra csdflvqqld 181 psnaigianf aeqigctelh qrareyiymh fgevakqeef fnlshcqlat lisrddlnvr 241 cesevfhaci dwvkydcpqr rfyvqallra vrchaltprf lqtqlqkcei lqadarckdy 301 lvqifqeltl hkptqavpcr apkvgrliyt aggyfrqsls yleaynpsng swlrladlqv 361 prsglagcvv ggllyavggr nnspdgntds saldcynpmt nqwspcasms vprnrigvgv 421 idghiyavgg shgcihhssv eryeperdew hlvapmltrr igvgvavlnr llyavggfdg 481 tnrlnsaecy ypernewrmi tpmntirsga gvcvlhnciy aaggydgqdq lnsverydve 541 tetwtfvapm rhhrsalgit vhqgkiyvlg gydghtflds vecydpdsdt wsevtrmtsg 601 rsgvgvavtm epcrkqidqq nctc // LOCUS NP_001349209 535 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 6 [Mus musculus]. ACCESSION NP_001349209 XP_017173275 VERSION NP_001349209.1 DBSOURCE REFSEQ: accession NM_001362280.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 535) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 535) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 535) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 535) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 535) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 535) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 535) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 535) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 535) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 535) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173275.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.210158.1, SRR7345562.3295548.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..535 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..535 /product="CUGBP Elav-like family member 4 isoform 6" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56935 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..>444 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..535 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362280.1:531..2138" /note="isoform 6 is encoded by transcript variant 12" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgrhpvps rcqapscqgg qcaisssarr lrelrqpgqr 481 tdrhpgherl pdrheeaqga aeaaqrrqsp vlsaggsvpr grpglaqgrm lnglh // LOCUS NP_062681 714 aa linear ROD 09-OCT-2023 DEFINITION cadherin-13 preproprotein [Mus musculus]. ACCESSION NP_062681 VERSION NP_062681.2 DBSOURCE REFSEQ: accession NM_019707.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 714) AUTHORS Popov VS, Brodsky IB, Balatskaya MN, Balatskiy AV, Ozhimalov ID, Kulebyakina MA, Semina EV, Arbatskiy MS, Isakova VS, Klimovich PS, Sysoeva VY, Kalinina NI, Tkachuk VA and Rubina KA. TITLE T-Cadherin Deficiency Is Associated with Increased Blood Pressure after Physical Activity JOURNAL Int J Mol Sci 24 (18), 14204 (2023) PUBMED 37762507 REMARK GeneRIF: T-Cadherin Deficiency Is Associated with Increased Blood Pressure after Physical Activity. Publication Status: Online-Only REFERENCE 2 (residues 1 to 714) AUTHORS Fukuoka K, Mineo R, Kita S, Fukuda S, Okita T, Kawada-Horitani E, Iioka M, Fujii K, Kawada K, Fujishima Y, Nishizawa H, Maeda N and Shimomura I. TITLE ER stress decreases exosome production through adiponectin/T-cadherin-dependent and -independent pathways JOURNAL J Biol Chem 299 (9), 105114 (2023) PUBMED 37524131 REMARK GeneRIF: ER stress decreases exosome production through adiponectin/T-cadherin-dependent and -independent pathways. REFERENCE 3 (residues 1 to 714) AUTHORS Guo Q, Wang Y, Wang Q, Qian Y, Jiang Y, Dong X, Chen H, Chen X, Liu X, Yu S, Zhu J, Shan S, Wu B, Zhou W and Wang H. TITLE In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes JOURNAL Pediatr Res 93 (6), 1519-1527 (2023) PUBMED 36028553 REFERENCE 4 (residues 1 to 714) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 714) AUTHORS Polanco J, Reyes-Vigil F, Weisberg SD, Dhimitruka I and Bruses JL. TITLE Differential Spatiotemporal Expression of Type I and Type II Cadherins Associated With the Segmentation of the Central Nervous System and Formation of Brain Nuclei in the Developing Mouse JOURNAL Front Mol Neurosci 14, 633719 (2021) PUBMED 33833667 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 714) AUTHORS Huang ZY, Wu Y, Hedrick N and Gutmann DH. TITLE T-cadherin-mediated cell growth regulation involves G2 phase arrest and requires p21(CIP1/WAF1) expression JOURNAL Mol Cell Biol 23 (2), 566-578 (2003) PUBMED 12509455 REMARK GeneRIF: T-cadherin has a role in growth regulation involving p21(CIP1/WAF1) expression and G2 arrest REFERENCE 7 (residues 1 to 714) AUTHORS Zhou S, Matsuyoshi N, Liang SB, Takeuchi T, Ohtsuki Y and Miyachi Y. TITLE Expression of T-cadherin in Basal keratinocytes of skin JOURNAL J Invest Dermatol 118 (6), 1080-1084 (2002) PUBMED 12060406 REMARK GeneRIF: Expression of T-cadherin in Basal keratinocytes of skin. REFERENCE 8 (residues 1 to 714) AUTHORS Takeuchi T, Misaki A, Liang SB, Tachibana A, Hayashi N, Sonobe H and Ohtsuki Y. TITLE Expression of T-cadherin (CDH13, H-Cadherin) in human brain and its characteristics as a negative growth regulator of epidermal growth factor in neuroblastoma cells JOURNAL J Neurochem 74 (4), 1489-1497 (2000) PUBMED 10737605 REFERENCE 9 (residues 1 to 714) AUTHORS Kido M, Obata S, Tanihara H, Rochelle JM, Seldin MF, Taketani S and Suzuki ST. TITLE Molecular properties and chromosomal location of cadherin-8 JOURNAL Genomics 48 (2), 186-194 (1998) PUBMED 9521872 REFERENCE 10 (residues 1 to 714) AUTHORS Munro SB, Duclos AJ, Jackson AR, Baines MG and Blaschuk OW. TITLE Characterization of cadherins expressed by murine thymocytes JOURNAL Cell Immunol 169 (2), 309-312 (1996) PUBMED 8620560 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM944611.1, AK048724.1, CX242668.1, CF735928.1, AV343697.2, AI550332.1 and BB075948.1. On Jul 23, 2006 this sequence version replaced NP_062681.1. Summary: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK134649.1, SRR1660811.189232.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..714 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 65.97 cM" Protein 1..714 /product="cadherin-13 preproprotein" /EC_number="3.6.1.3" /note="H-cadherin; heart cadherin; T-cadherin" /calculated_mol_wt=75891 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2313 Region 26..111 /region_name="Cadherin_pro" /note="Cadherin prodomain like; pfam08758" /db_xref="CDD:430196" mat_peptide 139..693 /product="Cadherin-13. /id=PRO_0000003797" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" /calculated_mol_wt=60584 Region 156..183 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Region 161..243 /region_name="CA" /note="Cadherin repeats; smart00112" /db_xref="CDD:214520" Region 249..359 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(256..257,318,320,355,357..358) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 368..469 /region_name="Cadherin" /note="Cadherin domain; pfam00028" /db_xref="CDD:394985" Site 382 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Region 488..581 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(488..489,540,542,577,579..580) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 489 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Site 500 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Site 530 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Region 589..680 /region_name="Cadherin" /note="Cadherin domain; pfam00028" /db_xref="CDD:394985" Site 598 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Site 638 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" Site 671 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9WTR5.2)" CDS 1..714 /gene="Cdh13" /gene_synonym="4932416G01Rik; Cdht; Tcad" /coded_by="NM_019707.5:244..2388" /db_xref="CCDS:CCDS52682.1" /db_xref="GeneID:12554" /db_xref="MGI:MGI:99551" ORIGIN 1 mqprtpltlc vllsqvllvt saddlectpg fqrkvlhihq paefiedqpv lnltfndckg 61 neklhyevss phfkvnsdgt lvalrnitav grtlfvhart phaedmaelv ivggkdiqgs 121 lqdifkfart spvprqkrsi vvspilipen qrqpfprdvg kvvdsdrpeg skfrltgkgv 181 dqdpkgtfri nentgsvsvt rtldretiat yqlyvettda sgktlegpvp levividqnd 241 nrpifregpy ighvmegspt gttvmrmtaf daddpatdna llrynirqqt pdkpspnmfy 301 idpekgdivt vvspalldre tlenpkyeli ieaqdmagld vgltgtatat ividdkndhs 361 pkftkkefqa tveegavgvi vnltvedkdd pttgawraay tiingnpgqs feihtnpqtn 421 egmlsvvkpl dyeisafhtl likvenedpl vpdvsygpss tatvhitvld vnegpvfypd 481 pmmvtkqeni svgsvlltvn atdpdslqhq tirysiykdp agwlsinpin gtvdttavld 541 respfvhnsv ytalflaids gnppatgtgt llitledind napviyptva evcddarnls 601 vvilgasdkd lhpntdpfkf eihkqtvpdk vwkiskinnt halvsllqnl nkanynlpim 661 vtdsgkppmt nitdlrvqvc scknskvdcn gagalhlsls llllfsllsl lsgl // LOCUS NP_001349206 543 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 3 [Mus musculus]. ACCESSION NP_001349206 VERSION NP_001349206.1 DBSOURCE REFSEQ: accession NM_001362277.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 543) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 543) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 543) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 543) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 543) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 543) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 543) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 543) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 543) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 543) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..543 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..543 /product="CUGBP Elav-like family member 4 isoform 3" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=57720 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..>443 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..543 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362277.1:531..2162" /note="isoform 3 is encoded by transcript variant 9" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal 301 nmnglaaapm tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi 361 hpypaqspta adplqqayag vqqyagpaay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt 481 drhpgherlp drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgqsn ppqsraelgi 541 kft // LOCUS NP_082716 81 aa linear ROD 09-OCT-2023 DEFINITION costars family protein ABRACL [Mus musculus]. ACCESSION NP_082716 XP_001473295 XP_918042 VERSION NP_082716.1 DBSOURCE REFSEQ: accession NM_028440.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 81) AUTHORS Troumpoukis D, Vasileiou AR, Siskos N, Stylianopoulou E, Ypsilantis P, Skavdis G and Grigoriou ME. TITLE Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon JOURNAL Biomolecules 13 (9), 1337 (2023) PUBMED 37759737 REMARK GeneRIF: Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon. Publication Status: Online-Only REFERENCE 2 (residues 1 to 81) AUTHORS Pensold D, Symmank J, Hahn A, Lingner T, Salinas-Riester G, Downie BR, Ludewig F, Rotzsch A, Haag N, Andreas N, Schubert K, Hubner CA, Pieler T and Zimmer G. TITLE The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral Cortex JOURNAL Cereb Cortex 27 (12), 5696-5714 (2017) PUBMED 29117290 REFERENCE 3 (residues 1 to 81) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 4 (residues 1 to 81) AUTHORS Nelson PS, Pritchard C, Abbott D and Clegg N. TITLE The human (PEDB) and mouse (mPEDB) Prostate Expression Databases JOURNAL Nucleic Acids Res 30 (1), 218-220 (2002) PUBMED 11752298 REFERENCE 5 (residues 1 to 81) AUTHORS Kagami Y and Furuichi T. TITLE Investigation of differentially expressed genes during the development of mouse cerebellum JOURNAL Brain Res Gene Expr Patterns 1 (1), 39-59 (2001) PUBMED 15018818 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DV053786.1 and BC098509.1. On or before Jul 26, 2007 this sequence version replaced XP_918042.2, XP_001473295.1. ##Evidence-Data-START## Transcript exon combination :: BC098509.1, DV046330.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849380, SAMN01164134 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..81 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 7.39 cM" Protein 1..81 /product="costars family protein ABRACL" /note="ABRA C-terminal-like protein" /calculated_mol_wt=8927 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9P1F3; propagated from UniProtKB/Swiss-Prot (Q4KML4.1)" Region 2..79 /region_name="Costars" /note="pfam14705" /db_xref="CDD:434145" CDS 1..81 /gene="Abracl" /gene_synonym="1700028I04Rik; 3110003A17Rik" /coded_by="NM_028440.1:193..438" /db_xref="CCDS:CCDS48506.1" /db_xref="GeneID:73112" /db_xref="MGI:MGI:1920362" ORIGIN 1 mnvehevnll veeihrlgsr nadgklsvkf gvlfqddrca nlfealvgtl kaakrrkivt 61 yagelllqgv hddvdivllq d // LOCUS NP_663412 221 aa linear ROD 09-OCT-2023 DEFINITION CMRF35-like molecule 5 precursor [Mus musculus]. ACCESSION NP_663412 XP_915016 VERSION NP_663412.1 DBSOURCE REFSEQ: accession NM_145437.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 221) AUTHORS Wang C, Zheng X, Zhang J, Jiang X, Wang J, Li Y, Li X, Shen G, Peng J, Zheng P, Gu Y, Chen J, Lin M, Deng C, Gao H, Lu Z, Zhao Y and Luo M. TITLE CD300ld on neutrophils is required for tumour-driven immune suppression JOURNAL Nature 621 (7980), 830-839 (2023) PUBMED 37674079 REMARK GeneRIF: CD300ld on neutrophils is required for tumour-driven immune suppression. REFERENCE 2 (residues 1 to 221) AUTHORS Haga K, Fujimoto A, Takai-Todaka R, Miki M, Doan YH, Murakami K, Yokoyama M, Murata K, Nakanishi A and Katayama K. TITLE Functional receptor molecules CD300lf and CD300ld within the CD300 family enable murine noroviruses to infect cells JOURNAL Proc Natl Acad Sci U S A 113 (41), E6248-E6255 (2016) PUBMED 27681626 REMARK GeneRIF: Our results indicate that direct interaction of MNV with two cell-surface molecules, CD300lf and CD300ld, dictates permissive noroviral infection. REFERENCE 3 (residues 1 to 221) AUTHORS Orchard RC, Wilen CB, Doench JG, Baldridge MT, McCune BT, Lee YC, Lee S, Pruett-Miller SM, Nelson CA, Fremont DH and Virgin HW. TITLE Discovery of a proteinaceous cellular receptor for a norovirus JOURNAL Science 353 (6302), 933-936 (2016) PUBMED 27540007 REFERENCE 4 (residues 1 to 221) AUTHORS Enomoto Y, Yamanishi Y, Izawa K, Kaitani A, Takahashi M, Maehara A, Oki T, Takamatsu R, Kajikawa M, Takai T, Kitamura T and Kitaura J. TITLE Characterization of leukocyte mono-immunoglobulin-like receptor 7 (LMIR7)/CLM-3 as an activating receptor: its similarities to and differences from LMIR4/CLM-5 JOURNAL J Biol Chem 285 (46), 35274-35283 (2010) PUBMED 20817736 REMARK GeneRIF: Data show that LMIR7/CLM-3 shares similarities with LMIR4/CLM-5, although they are differentially regulated in their distribution, expression, and function. REFERENCE 5 (residues 1 to 221) AUTHORS Nakano T, Tahara-Hanaoka S, Nakahashi C, Can I, Totsuka N, Honda S, Shibuya K and Shibuya A. TITLE Activation of neutrophils by a novel triggering immunoglobulin-like receptor MAIR-IV JOURNAL Mol Immunol 45 (1), 289-294 (2008) PUBMED 17543387 REMARK GeneRIF: MAIR-IV may regulate activation of neutrophils and play an important role for innate immunity. REFERENCE 6 (residues 1 to 221) AUTHORS Izawa K, Kitaura J, Yamanishi Y, Matsuoka T, Oki T, Shibata F, Kumagai H, Nakajima H, Maeda-Yamamoto M, Hauchins JP, Tybulewicz VLJ, Takai T and Kitamura T. TITLE Functional analysis of activating receptor LMIR4 as a counterpart of inhibitory receptor LMIR3 JOURNAL J Biol Chem 282 (25), 17997-18008 (2007) PUBMED 17438331 REMARK GeneRIF: the innate immune system is at least in part regulated by the qualitative and quantitative balance of the paired receptors LMIR3 and LMIR4 REFERENCE 7 (residues 1 to 221) AUTHORS Chung DH, Humphrey MB, Nakamura MC, Ginzinger DG, Seaman WE and Daws MR. TITLE CMRF-35-like molecule-1, a novel mouse myeloid receptor, can inhibit osteoclast formation JOURNAL J Immunol 171 (12), 6541-6548 (2003) PUBMED 14662855 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL607025.21. On Dec 7, 2005 this sequence version replaced XP_915016.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BC019814.1, AK028662.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..221 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 80.56 cM" Protein 1..221 /product="CMRF35-like molecule 5 precursor" /note="CMRF35-like molecule 5; leukocyte mono-Ig-like receptor 4; myeloid-associated immunoglobulin (Ig)-like receptor IV; novel immunoglobulin V-set protein (Clm5); MAIR-4; myeloid-associated immunoglobulin-like receptor 4; CD300 antigen like family member D" /calculated_mol_wt=22923 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2049 Region 23..124 /region_name="IgV_pIgR_like" /note="Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR) and similar proteins; cd05716" /db_xref="CDD:409381" Region 23..40 /region_name="FR1" /note="FR1 [structural motif]" /db_xref="CDD:409381" Region 27..32 /region_name="Ig strand A'" /note="Ig strand A' [structural motif]" /db_xref="CDD:409381" Region 34..41 /region_name="Ig strand B" /note="Ig strand B [structural motif]" /db_xref="CDD:409381" Region 38..48 /region_name="May play an important role in murine norovirus (MNV) binding. /evidence=ECO:0000269|PubMed:27681626" /note="propagated from UniProtKB/Swiss-Prot (Q8VCH2.1)" Region 41..49 /region_name="CDR1" /note="CDR1 [structural motif]" /db_xref="CDD:409381" Region 49..54 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409381" Site 49..51 /site_type="other" /note="CDR1-dIgA binding residues [polypeptide binding]" /db_xref="CDD:409381" Region 50..54 /region_name="FR2" /note="FR2 [structural motif]" /db_xref="CDD:409381" Region 55..76 /region_name="CDR2" /note="CDR2 [structural motif]" /db_xref="CDD:409381" Region 63..70 /region_name="Ig strand C'" /note="Ig strand C' [structural motif]" /db_xref="CDD:409381" Region 74..76 /region_name="Ig strand C'" /note="Ig strand C' [structural motif]" /db_xref="CDD:409381" Region 79..110 /region_name="FR3" /note="FR3 [structural motif]" /db_xref="CDD:409381" Region 79..85 /region_name="Ig strand D" /note="Ig strand D [structural motif]" /db_xref="CDD:409381" Region 89..97 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409381" Region 103..110 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409381" Region 111..118 /region_name="CDR3" /note="CDR3 [structural motif]" /db_xref="CDD:409381" Region 118..124 /region_name="FR4" /note="FR4 [structural motif]" /db_xref="CDD:409381" Region 118..124 /region_name="Ig strand G" /note="Ig strand G [structural motif]" /db_xref="CDD:409381" Region 165..170 /region_name="Important for maintaining surface expression and for interaction with FCER1G" /note="propagated from UniProtKB/Swiss-Prot (Q8VCH2.1)" Region 177..186 /region_name="Important for maintaining surface expression and for interaction with FCER1G" /note="propagated from UniProtKB/Swiss-Prot (Q8VCH2.1)" Site 178..198 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8VCH2.1)" CDS 1..221 /gene="Cd300ld" /gene_synonym="4732429D16Rik; Cd300ld1; clm-5; CLM5; LMIR4; MAIR-IV" /coded_by="NM_145437.2:77..742" /db_xref="CCDS:CCDS25615.1" /db_xref="GeneID:217305" /db_xref="MGI:MGI:2442358" ORIGIN 1 mwqfsalllf flpgcctaqd svtgpeevsg qeqgsltvqc ryssywkgyk kywcrgvpqr 61 scdilvetdk seqlvkknrv sirdnqrdfi ftvtmedlrm sdagiywcgi tkggpdpmfk 121 vnvnidqapk ssmmtttatv lksiqpsaen tgkeqvtqsk evtqsrphtr sllssiyfll 181 mvfvelplll smlsavlwvt rpqrcfgrge ndlvkthspv a // LOCUS NP_035790 105 aa linear ROD 09-OCT-2023 DEFINITION thioredoxin [Mus musculus]. ACCESSION NP_035790 VERSION NP_035790.1 DBSOURCE REFSEQ: accession NM_011660.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 105) AUTHORS Wu A, Fang D, Liu Y, Shi X, Zhong Z, Zhou B, Ye L, Sun X and Jiang L. TITLE Nuclear translocation of thioredoxin-1 promotes colorectal cancer development via modulation of the IL-6/STAT3 signaling axis through interaction with STAT3 JOURNAL Theranostics 13 (14), 4730-4744 (2023) PUBMED 37771783 REMARK GeneRIF: Nuclear translocation of thioredoxin-1 promotes colorectal cancer development via modulation of the IL-6/STAT3 signaling axis through interaction with STAT3. Publication Status: Online-Only REFERENCE 2 (residues 1 to 105) AUTHORS Shao R, Lou X, Xue J, Yang Y, Ning D, Chen G and Jiang L. TITLE Thioredoxin-1 regulates IRE1alpha to ameliorate sepsis-induced NLRP3 inflammasome activation and oxidative stress in Raw 264.7 cell JOURNAL Immunopharmacol Immunotoxicol 45 (3), 277-286 (2023) PUBMED 36263912 REMARK GeneRIF: Thioredoxin-1 regulates IRE1alpha to ameliorate sepsis-induced NLRP3 inflammasome activation and oxidative stress in Raw 264.7 cell. REFERENCE 3 (residues 1 to 105) AUTHORS Yu X, Teng Q, Bao K, Chudhary M, Qi H, Zhou W, Che H, Liu J, Ren X and Kong L. TITLE Thioredoxin 1 overexpression attenuated diabetes-induced endoplasmic reticulum stress in Muller cells via apoptosis signal-regulating kinase 1 JOURNAL J Cell Biochem 124 (3), 421-433 (2023) PUBMED 36780445 REMARK GeneRIF: Thioredoxin 1 overexpression attenuated diabetes-induced endoplasmic reticulum stress in Muller cells via apoptosis signal-regulating kinase 1. REFERENCE 4 (residues 1 to 105) AUTHORS Nagarajan N, Oka SI, Nah J, Wu C, Zhai P, Mukai R, Xu X, Kashyap S, Huang CY, Sung EA, Mizushima W, Titus AS, Takayama K, Mourad Y, Francisco J, Liu T, Chen T, Li H and Sadoshima J. TITLE Thioredoxin 1 promotes autophagy through transnitrosylation of Atg7 during myocardial ischemia JOURNAL J Clin Invest 133 (3), e162326 (2023) PUBMED 36480290 REMARK GeneRIF: Thioredoxin 1 promotes autophagy through transnitrosylation of Atg7 during myocardial ischemia. Publication Status: Online-Only REFERENCE 5 (residues 1 to 105) AUTHORS Yang Q, Cai W, Jin H, Shen T and Yu J. TITLE Downregulation of Inflammatory Response via Nrf2/Trx1/TXNIP Axis in Oxidative Stress-Induced ARPE-19 Cells and Mouse Model of AMD JOURNAL Oxid Med Cell Longev 2022, 1497813 (2022) PUBMED 35993020 REMARK GeneRIF: Downregulation of Inflammatory Response via Nrf2/Trx1/TXNIP Axis in Oxidative Stress-Induced ARPE-19 Cells and Mouse Model of AMD. Publication Status: Online-Only REFERENCE 6 (residues 1 to 105) AUTHORS Guthridge MA, Seldin M and Basilico C. TITLE Induction of expression of growth-related genes by FGF-4 in mouse fibroblasts JOURNAL Oncogene 12 (6), 1267-1278 (1996) PUBMED 8649829 REFERENCE 7 (residues 1 to 105) AUTHORS Matsui M, Taniguchi Y, Hirota K, Taketo M and Yodoi J. TITLE Structure of the mouse thioredoxin-encoding gene and its processed pseudogene JOURNAL Gene 152 (2), 165-171 (1995) PUBMED 7835695 REFERENCE 8 (residues 1 to 105) AUTHORS Tagaya,Y., Maeda,Y., Mitsui,A., Kondo,N., Matsui,H., Hamuro,J., Brown,N., Arai,K., Yokota,T., Wakasugi,H. et al. TITLE ATL-derived factor (ADF), an IL-2 receptor/Tac inducer homologous to thioredoxin; possible involvement of dithiol-reduction in the IL-2 receptor induction JOURNAL EMBO J 13 (9), 2244 (1994) PUBMED 8187776 REMARK Correction to:[EMBO J. 1989 Mar;8(3):757-64. PMID: 2785919] REFERENCE 9 (residues 1 to 105) AUTHORS Taketo M, Matsui M, Rochelle JM, Yodoi J and Seldin MF. TITLE Mouse thioredoxin gene maps on chromosome 4, whereas its pseudogene maps on chromosome 1 JOURNAL Genomics 21 (1), 251-253 (1994) PUBMED 8088797 REFERENCE 10 (residues 1 to 105) AUTHORS Tagaya Y, Maeda Y, Mitsui A, Kondo N, Matsui H, Hamuro J, Brown N, Arai K, Yokota T, Wakasugi H et al. TITLE ATL-derived factor (ADF), an IL-2 receptor/Tac inducer homologous to thioredoxin; possible involvement of dithiol-reduction in the IL-2 receptor induction JOURNAL EMBO J 8 (3), 757-764 (1989) PUBMED 2785919 REMARK Erratum:[EMBO J. 1994 May 1;13(9):2244. PMID: 8187776] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL929406.10 and AK007537.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK007537.1, BY707596.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..105 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 31.87 cM" Protein 1..105 /product="thioredoxin" /note="trx; ATL-derived factor" /calculated_mol_wt=11544 Region 2..103 /region_name="Thioredoxin" /note="pfam00085" /db_xref="CDD:395038" Site 3 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P10599; propagated from UniProtKB/Swiss-Prot (P10639.3)" Site 26 /site_type="other" /note="Deprotonates C-terminal active site Cys. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P10639.3)" Site order(32,35) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:239245" Site 33 /site_type="other" /note="Contributes to redox potential value. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P10639.3)" Site 34 /site_type="other" /note="Contributes to redox potential value. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P10639.3)" Site 39 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P10639.3)" Site 94 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P10639.3)" CDS 1..105 /gene="Txn1" /gene_synonym="ADF; Trx1; Txn" /coded_by="NM_011660.3:202..519" /db_xref="CCDS:CCDS18207.1" /db_xref="GeneID:22166" /db_xref="MGI:MGI:98874" ORIGIN 1 mvklieskea fqealaaagd klvvvdfsat wcgpckmikp ffhslcdkys nvvflevdvd 61 dcqdvaadce vkcmptfqfy kkgqkvgefs gankekleas iteya // LOCUS NP_001344264 750 aa linear ROD 09-OCT-2023 DEFINITION neprilysin [Mus musculus]. ACCESSION NP_001344264 XP_006501158 VERSION NP_001344264.1 DBSOURCE REFSEQ: accession NM_001357335.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 750) AUTHORS Esser N, Mongovin SM, Mundinger TO, Barrow BM and Zraika S. TITLE Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice JOURNAL Peptides 168, 171076 (2023) PUBMED 37572792 REMARK GeneRIF: Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice. REFERENCE 2 (residues 1 to 750) AUTHORS Esser N, Mundinger TO, Barrow BM and Zraika S. TITLE Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice JOURNAL Endocrinology 164 (5) (2023) PUBMED 36964914 REMARK GeneRIF: Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice. REFERENCE 3 (residues 1 to 750) AUTHORS Ortiz C, Klein S, Reul WH, Magdaleno F, Groschl S, Dietrich P, Schierwagen R, Uschner FE, Torres S, Hieber C, Meier C, Kraus N, Tyc O, Brol M, Zeuzem S, Welsch C, Poglitsch M, Hellerbrand C, Alfonso-Prieto M, Mira F, Keller UAD, Tetzner A, Moore A, Walther T and Trebicka J. TITLE Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1 JOURNAL Cell Rep 42 (2), 112059 (2023) PUBMED 36729833 REMARK GeneRIF: Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1. REFERENCE 4 (residues 1 to 750) AUTHORS Chen Y and Burnett JC Jr. TITLE Biochemistry, Therapeutics, and Biomarker Implications of Neprilysin in Cardiorenal Disease JOURNAL Clin Chem 63 (1), 108-115 (2017) PUBMED 28062615 REMARK Review article REFERENCE 5 (residues 1 to 750) AUTHORS Bayes-Genis A, Barallat J and Richards AM. TITLE A Test in Context: Neprilysin: Function, Inhibition, and Biomarker JOURNAL J Am Coll Cardiol 68 (6), 639-653 (2016) PUBMED 27491909 REMARK Review article REFERENCE 6 (residues 1 to 750) AUTHORS Turner AJ and Nalivaeva NN. TITLE Proteinase dysbalance in pathology: the neprilysin (NEP) and angiotensin-converting enzyme (ACE) families JOURNAL Cell Mol Biol (Noisy-le-grand) 52 (4), 40-48 (2006) PUBMED 17543197 REMARK Review article Publication Status: Online-Only REFERENCE 7 (residues 1 to 750) AUTHORS Weil M, Itin A and Keshet E. TITLE A role for mesenchyme-derived tachykinins in tooth and mammary gland morphogenesis JOURNAL Development 121 (8), 2419-2428 (1995) PUBMED 7545574 REFERENCE 8 (residues 1 to 750) AUTHORS Kalled SL, Siva N, Stein H and Reinherz EL. TITLE The distribution of CD10 (NEP 24.11, CALLA) in humans and mice is similar in non-lymphoid organs but differs within the hematopoietic system: absence on murine T and B lymphoid progenitors JOURNAL Eur J Immunol 25 (3), 677-687 (1995) PUBMED 7705396 REFERENCE 9 (residues 1 to 750) AUTHORS Watson ML, Rao JK, Gilkeson GS, Ruiz P, Eicher EM, Pisetsky DS, Matsuzawa A, Rochelle JM and Seldin MF. TITLE Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci JOURNAL J Exp Med 176 (6), 1645-1656 (1992) PUBMED 1460423 REFERENCE 10 (residues 1 to 750) AUTHORS Chen CY, Salles G, Seldin MF, Kister AE, Reinherz EL and Shipp MA. TITLE Murine common acute lymphoblastic leukemia antigen (CD10 neutral endopeptidase 24.11). Molecular characterization, chromosomal localization, and modeling of the active site JOURNAL J Immunol 148 (9), 2817-2825 (1992) PUBMED 1374101 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121993.2 and AC121840.3. On Oct 26, 2017 this sequence version replaced XP_006501158.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR10223971.3847.1, SRR10223969.3733.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..750 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 29.97 cM" Protein 1..750 /product="neprilysin" /EC_number="3.4.24.11" /note="common acute lymphoblastic leukemia antigen; enkephalinase; atriopeptidase; neutral endopeptidase 24.11; skin fibroblast elastase" /calculated_mol_wt=85571 Site 4 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 6 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 16..23 /region_name="Stop-transfer sequence. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 29..51 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 77..748 /region_name="M13" /note="Peptidase family M13 includes neprilysin and endothelin-converting enzyme I; cd08662" /db_xref="CDD:341056" Site order(107,537,542..545,564,580..581,584..585,588,647,690, 693..694,711..712,718) /site_type="active" /db_xref="CDD:341056" Site 145 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 211 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 285 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 325 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 628 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" CDS 1..750 /gene="Mme" /gene_synonym="6030454K05Rik; CALLA; CD10; NEP; SFE" /coded_by="NM_001357335.1:416..2668" /db_xref="CCDS:CCDS17381.1" /db_xref="GeneID:17380" /db_xref="MGI:MGI:97004" ORIGIN 1 mgrsesqmdi tdinapkpkk kqrwtpleis lsvlvlllti iavtmialya tyddgickss 61 dciksaarli qnmdasvepc tdffkyacgg wlkrnvipet ssrysnfdil rdelevilkd 121 vlqepktedi vavqkaktly rscinesaid srggqpllkl lpdiygwpva sdnwdqtygt 181 swtaeksiaq lnskygkkvl inffvgtddk nstqhiihfd qprlglpsrd yyectgiyke 241 actayvdfmi svarlirqeq slpidenqls lemnkvmele keianattkp edrndpmlly 301 nkmtlaklqn nfslevngks fswsnftnei mstvniniqn eeevvvyape yltklkpilt 361 kysprdlqnl mswrfimdlv sslsrnykes rnafrkalyg ttsetatwrr canyvngnme 421 navgrlyvea afageskhvv edliaqirev fiqtlddltw mdaetkkkae ekalaikeri 481 gypddiisne nklnneylel nyredeyfen iiqnlkfsqs kqlkklrekv dkdewisgaa 541 vvnafyssgr nqivfpagil qppffsaqqs nslnyggigm vigheithgf ddngrnfnkd 601 gdlvdwwtqq sannfkdqsq cmvyqygnfs wdlaggqhln gintlgenia dnggigqayr 661 ayqnyvkkng eekllpgldl nhkqlfflnf aqvwcgtyrp eyavnsiktd vhspgnfrii 721 gtlqnsaefa dafhcrknsy mnperkcrvw // LOCUS NP_032564 309 aa linear ROD 09-OCT-2023 DEFINITION myristoylated alanine-rich C-kinase substrate [Mus musculus]. ACCESSION NP_032564 VERSION NP_032564.1 DBSOURCE REFSEQ: accession NM_008538.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 309) AUTHORS Yang Y, Yang H and Yang C. TITLE Circ-AMOTL1 enhances cardiac fibrosis through binding with EIF4A3 and stabilizing MARCKS expression in diabetic cardiomyopathy JOURNAL Cell Signal 111, 110853 (2023) PUBMED 37586467 REMARK GeneRIF: Circ-AMOTL1 enhances cardiac fibrosis through binding with EIF4A3 and stabilizing MARCKS expression in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 309) AUTHORS Ji S, Yang Z, Gozali L, Kenney T, Kocabas A, Jinsook Park C and Hynes M. TITLE Distinct expression of select and transcriptome-wide isolated 3'UTRs suggests critical roles in development and transition states JOURNAL PLoS One 16 (5), e0250669 (2021) PUBMED 33951080 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 309) AUTHORS Yang P, Xu C, Reece EA, Chen X, Zhong J, Zhan M, Stumpo DJ, Blackshear PJ and Yang P. TITLE Tip60- and sirtuin 2-regulated MARCKS acetylation and phosphorylation are required for diabetic embryopathy JOURNAL Nat Commun 10 (1), 282 (2019) PUBMED 30655546 REMARK GeneRIF: Study in mice reports that Marcks is regulated by acetylation through Tip60 and Sirt2. Maternal diabetes-induced MARCKS acetylation is required for its phosphorylation, which disables the protective effects of MARCKS on mitochondria and the endoplasmic reticulum, leading to cellular organelle stress and neural tube defect formation. Publication Status: Online-Only REFERENCE 4 (residues 1 to 309) AUTHORS Brudvig JJ, Cain JT, Sears RM, Schmidt-Grimminger GG, Wittchen ES, Adler KB, Ghashghaei HT and Weimer JM. TITLE MARCKS regulates neuritogenesis and interacts with a CDC42 signaling network JOURNAL Sci Rep 8 (1), 13278 (2018) PUBMED 30185885 REMARK GeneRIF: While the presence of MARCKS does not affect whole brain levels of activated or total CDC42, authors propose that MARCKS is uniquely positioned to regulate CDC42 localization and interactions within specialized cellular compartments, such as nascent neurites. Publication Status: Online-Only REFERENCE 5 (residues 1 to 309) AUTHORS Ziemba BP and Falke JJ. TITLE A PKC-MARCKS-PI3K regulatory module links Ca2+ and PIP3 signals at the leading edge of polarized macrophages JOURNAL PLoS One 13 (5), e0196678 (2018) PUBMED 29715315 REMARK GeneRIF: Strongly support the existence of a PKC-MARCKS-PI3K regulatory module. Publication Status: Online-Only REFERENCE 6 (residues 1 to 309) AUTHORS Herget T, Brooks SF, Broad S and Rozengurt E. TITLE Relationship between the major protein kinase C substrates acidic 80-kDa protein-kinase-C substrate (80K) and myristoylated alanine-rich C-kinase substrate (MARCKS). Members of a gene family or equivalent genes in different species JOURNAL Eur J Biochem 209 (1), 7-14 (1992) PUBMED 1396720 REFERENCE 7 (residues 1 to 309) AUTHORS Li J and Aderem A. TITLE MacMARCKS, a novel member of the MARCKS family of protein kinase C substrates JOURNAL Cell 70 (5), 791-801 (1992) PUBMED 1516135 REFERENCE 8 (residues 1 to 309) AUTHORS Blackshear PJ, Tuttle JS, Oakey RJ, Seldin MF, Chery M, Philippe C and Stumpo DJ. TITLE Chromosomal mapping of the human (MACS) and mouse (Macs) genes encoding the MARCKS protein JOURNAL Genomics 14 (1), 168-174 (1992) PUBMED 1427822 REFERENCE 9 (residues 1 to 309) AUTHORS Blackshear PJ, Verghese GM, Johnson JD, Haupt DM and Stumpo DJ. TITLE Characteristics of the F52 protein, a MARCKS homologue JOURNAL J Biol Chem 267 (19), 13540-13546 (1992) PUBMED 1618855 REFERENCE 10 (residues 1 to 309) AUTHORS Brooks SF, Herget T, Erusalimsky JD and Rozengurt E. TITLE Protein kinase C activation potently down-regulates the expression of its major substrate, 80K, in Swiss 3T3 cells JOURNAL EMBO J 10 (9), 2497-2505 (1991) PUBMED 1868832 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB569984.1, M60474.1, BC046601.1 and AC133944.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M60474.1, BC046601.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..309 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 19.49 cM" Protein 1..309 /product="myristoylated alanine-rich C-kinase substrate" /note="80K protein" /calculated_mol_wt=29530 Region 1..309 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P26645.2)" Region 2..305 /region_name="MARCKS" /note="MARCKS family; pfam02063" /db_xref="CDD:366900" Site 15 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 26 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P29966; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 27 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 29 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P29966; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:15345747, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 63 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P29966; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 74 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P30009; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 79 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P30009; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 113 /site_type="phosphorylation" /note="Phosphoserine, by MAPK. /evidence=ECO:0000269|PubMed:8849678; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 122 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P30009; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 128 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P12624; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 138 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 140 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 141 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 143 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Region 145..169 /region_name="Calmodulin-binding (PSD)" /note="propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 152 /site_type="phosphorylation" /note="Phosphoserine, by PKC. /evidence=ECO:0000269|PubMed:7588787; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 156 /site_type="phosphorylation" /note="Phosphoserine, by PKC. /evidence=ECO:0000269|PubMed:7588787; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 160 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P12624; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 163 /site_type="phosphorylation" /note="Phosphoserine, by PKC. /evidence=ECO:0000269|PubMed:7588787, ECO:0007744|PubMed:19131326; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 171 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 246 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:15345747; propagated from UniProtKB/Swiss-Prot (P26645.2)" Site 291 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P29966; propagated from UniProtKB/Swiss-Prot (P26645.2)" CDS 1..309 /gene="Marcks" /gene_synonym="Macs; PKCSL" /coded_by="NM_008538.2:392..1321" /db_xref="CCDS:CCDS23784.1" /db_xref="GeneID:17118" /db_xref="MGI:MGI:96907" ORIGIN 1 mgaqfsktaa kgeataerpg eaavasspsk angqenghvk vngdaspaaa epgakeelqa 61 ngsapaadke epasgsaatp aaaekdeaaa atepgagaad keaaeaepae psspaaeaeg 121 asasstsspk aedgaapsps setpkkkkkr fsfkksfkls gfsfkkskke sgegaeaega 181 taegakdeaa aaaggegaaa pgeqaggaga egaaggepre aeaaepeqpe qpeqpaaeep 241 qaeeqseaag ekaeepapga tagdassaag peqeapaatd eaaasaapaa spepqpecsp 301 eappaptae // LOCUS NP_001351358 311 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 10 precursor [Mus musculus]. ACCESSION NP_001351358 VERSION NP_001351358.1 DBSOURCE REFSEQ: accession NM_001364429.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 311) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 311) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 311) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 311) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 311) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 311) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 311) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 311) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 311) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 311) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK170314.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849377 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..311 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..311 /product="pro-neuregulin-1, membrane-bound isoform isoform 10 precursor" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=31500 sig_peptide 1..26 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2841 Region <78..110 /region_name="EGF_CA" /note="Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the...; cd00054" /db_xref="CDD:238011" Region 155..>311 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..311 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364429.1:39..974" /note="isoform 10 precursor is encoded by transcript variant 10" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 mapapsllhy piivchllff adlttgmsas terpyvsses pirisvsteg antssststs 61 ttgtshlikc aekektfcvn ggecfmvkdl snpsrylckc qpgftgarct envpmkvqtq 121 ekaeelyqkr vltitgicia llvvgimcvv aycktkkqrq klhdrlrqsl rsernnmvni 181 angphhpnpp penvqlvnqy vsknvisseh iverevetsf stshytstah hsttvtqtps 241 hswsnghtes iiseshsvim mssvensrhs spaggprgrl hglggprecn sflrharetp 301 dsyrdsphse r // LOCUS NP_001349252 484 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 40 [Mus musculus]. ACCESSION NP_001349252 VERSION NP_001349252.1 DBSOURCE REFSEQ: accession NM_001362323.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 484) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 484) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 484) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 484) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 484) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 484) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 484) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 484) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 484) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 484) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.107381.1, SRR1660815.272887.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..484 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..484 /product="CUGBP Elav-like family member 4 isoform 40" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51582 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..473 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..484 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362323.1:531..1985" /note="isoform 40 is encoded by transcript variant 43" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal 301 nmnglaaapm tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi 361 hpypaqspta adplqqayag vqqyagpaay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda 481 nrpy // LOCUS NP_001124492 428 aa linear ROD 09-OCT-2023 DEFINITION glial fibrillary acidic protein isoform 1 [Mus musculus]. ACCESSION NP_001124492 VERSION NP_001124492.1 DBSOURCE REFSEQ: accession NM_001131020.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 428) AUTHORS Yammine SZ, Burns I, Gosio J, Peluso A, Merritt DM, Innes B, Coles BLK, Yan WR, Bader GD, Morshead CM and van der Kooy D. TITLE Fate Specification of GFAP-Negative Primitive Neural Stem Cells and Their Progeny at Clonal Resolution JOURNAL Stem Cells Dev 32 (19-20), 606-621 (2023) PUBMED 37551982 REMARK GeneRIF: Fate Specification of GFAP-Negative Primitive Neural Stem Cells and Their Progeny at Clonal Resolution. REFERENCE 2 (residues 1 to 428) AUTHORS Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC and Yalcin B. TITLE Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected JOURNAL Neurobiol Dis 185, 106259 (2023) PUBMED 37573958 REFERENCE 3 (residues 1 to 428) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 428) AUTHORS Hu M, Bodnar B, Zhang Y, Xie F, Li F, Li S, Zhao J, Zhao R, Gedupoori N, Mo Y, Lin L, Li X, Meng W, Yang X, Wang H, Barbe MF, Srinivasan S, Bethea JR, Mo X, Xu H and Hu W. TITLE Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice JOURNAL Int J Biol Sci 19 (10), 3226-3248 (2023) PUBMED 37416774 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 428) AUTHORS Li J, Jiang H, Mu Y, Wei Z, Ma A, Sun M, Zhao J, Zhu C and Chen X. TITLE SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex JOURNAL iScience 26 (7), 107042 (2023) PUBMED 37360696 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 428) AUTHORS Miragall F, Hwang TK, Traub O, Hertzberg EL and Dermietzel R. TITLE Expression of connexins in the developing olfactory system of the mouse JOURNAL J Comp Neurol 325 (3), 359-378 (1992) PUBMED 1332989 REFERENCE 7 (residues 1 to 428) AUTHORS Nonaka M, Matsuda Y, Shiroishi T, Moriwaki K, Nonaka M and Natsuume-Sakai S. TITLE Molecular cloning of mouse beta 2-glycoprotein I and mapping of the gene to chromosome 11 JOURNAL Genomics 13 (4), 1082-1087 (1992) PUBMED 1339387 REFERENCE 8 (residues 1 to 428) AUTHORS Dietrich W, Katz H, Lincoln SE, Shin HS, Friedman J, Dracopoli NC and Lander ES. TITLE A genetic map of the mouse suitable for typing intraspecific crosses JOURNAL Genetics 131 (2), 423-447 (1992) PUBMED 1353738 REFERENCE 9 (residues 1 to 428) AUTHORS Karolyi IJ, Guenet JL, Rey-Campos J and Camper SA. TITLE The gene coding for variant hepatic nuclear factor 1 (Tcf-2), maps between the Edp-1 and Erba genes on mouse chromosome 11 JOURNAL Mamm Genome 3 (3), 184-185 (1992) PUBMED 1352161 REFERENCE 10 (residues 1 to 428) AUTHORS Dyson PJ, de Smet C, Knight AM, Simon-Chazottes D, Guenet JL and Boon T. TITLE Mapping of the genes encoding tum- transplantation antigens P91A, P35B, and P198 JOURNAL Immunogenetics 35 (5), 316-323 (1992) PUBMED 1348494 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC139357.1, AK140151.1 and BU700210.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK140151.1, SRR7652917.688090.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..428 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 66.48 cM" Protein 1..428 /product="glial fibrillary acidic protein isoform 1" /note="intermediate filament protein" /calculated_mol_wt=49234 Region 4..63 /region_name="Filament_head" /note="Intermediate filament head (DNA binding) region; pfam04732" /db_xref="CDD:428095" Region 65..373 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:425436" CDS 1..428 /gene="Gfap" /coded_by="NM_001131020.1:84..1370" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS48950.1" /db_xref="GeneID:14580" /db_xref="MGI:MGI:95697" ORIGIN 1 merrritsar rsyasetvvr glgpsrqlgt mprfslsrmt pplparvdfs lagalnagfk 61 etraseraem melndrfasy iekvrfleqq nkalaaelnq lrakeptkla dvyqaelrel 121 rlrldqltan sarleverdn faqdlgtlrq klqdetnlrl eaennlaayr qeadeatlar 181 vdlerkvesl eeeiqflrki yeeevrelre qlaqqqvhve mdvakpdlta alreirtqye 241 avatsnmqet eewyrskfad ltdaasrnae llrqakhean dyrrqlqalt cdleslrgtn 301 eslerqmreq eerharesas yqealarlee egqslkeema rhlqeyqdll nvklaldiei 361 atyrkllege enritipvqt fsnlqirggk stkegegqkv trplkrltiq vvpiqahqie 421 ngalpalp // LOCUS NP_001390656 735 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 2 [Mus musculus]. ACCESSION NP_001390656 VERSION NP_001390656.1 DBSOURCE REFSEQ: accession NM_001403727.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 735) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 735) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 735) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 735) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 735) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 735) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 735) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 735) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 735) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 735) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422597.592058.1, SRR13422598.1180692.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..735 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..735 /product="transcriptional repressor CTCF isoform 2" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83486 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(268,271,284,288) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(469,472,485,489) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 698..725 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..735 /gene="Ctcf" /coded_by="NM_001403727.1:143..2350" /note="isoform 2 is encoded by transcript variant 7" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqptaiiq vedqntgaie niivevkkep daepaegeee eaqaattdap 721 ngdltpemil smmdr // LOCUS NP_001139765 485 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 35 [Mus musculus]. ACCESSION NP_001139765 XP_001473171 VERSION NP_001139765.1 DBSOURCE REFSEQ: accession NM_001146293.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 485) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 485) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 485) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 485) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 485) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 485) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 485) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 485) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 485) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 485) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8, AK048427.1, BC052744.1, AF515450.1, CX242398.1, AK038871.1 and AK078071.1. On May 1, 2009 this sequence version replaced XP_001473171.1. Transcript Variant: This variant (2) encodes isoform (37, also known as B). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052744.1, SRR1660825.48798.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..485 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..485 /product="CUGBP Elav-like family member 4 isoform 35" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51730 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..474 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..485 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001146293.2:531..1988" /note="isoform 35 is encoded by transcript variant 2" /db_xref="CCDS:CCDS89205.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd 481 anrpy // LOCUS NP_997564 140 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 2 [Mus musculus]. ACCESSION NP_997564 VERSION NP_997564.1 DBSOURCE REFSEQ: accession NM_207681.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 140) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 140) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 140) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 140) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 140) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 140) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 140) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 140) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 140) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 140) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK037885.1, AK050192.1, AK082613.1, CB521709.1, CA321725.1, AA881651.1 and BE136124.1. Transcript Variant: This variant (2) lacks an alternate in-frame segment in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK050192.1, BB653788.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..140 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..140 /product="bcl-2-like protein 11 isoform 2" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=16074 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 73..108 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..140 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_207681.2:229..651" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS16714.1" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa masirqsqee pedlrpeiri aqelrrigde fnetytrrvf andyreaedh 121 pqmvilqllr fifrlvwrrh // LOCUS NP_899133 895 aa linear ROD 09-OCT-2023 DEFINITION serine-rich coiled-coil domain-containing protein 1 [Mus musculus]. ACCESSION NP_899133 XP_913769 XP_993292 VERSION NP_899133.2 DBSOURCE REFSEQ: accession NM_183310.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 895) AUTHORS Chen K, Chen X, Lang C, Yuan X, Huang J, Li Z, Xu M, Wu K, Zhou C, Li Q, Zhu C, Liu L and Shang X. TITLE CircFam190a: a critical positive regulator of osteoclast differentiation via enhancement of the AKT1/HSP90beta complex JOURNAL Exp Mol Med 55 (9), 2051-2066 (2023) PUBMED 37653038 REMARK GeneRIF: CircFam190a: a critical positive regulator of osteoclast differentiation via enhancement of the AKT1/HSP90beta complex. REFERENCE 2 (residues 1 to 895) AUTHORS Okazaki N, F-Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S, Saga Y, Seino S, Nishimura M, Kaisho T, Hoshino K, Kitamura H, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 11 (3), 205-218 (2004) PUBMED 15368895 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB646598.1, BB634602.1, BC107398.2 and AK173231.1. On or before Aug 21, 2009 this sequence version replaced XP_913769.1, XP_993292.1, NP_899133.1. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..895 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 29.24 cM" Protein 1..895 /product="serine-rich coiled-coil domain-containing protein 1" /note="protein FAM190A; family with sequence similarity 190, member A; coiled-coil serine-rich protein 1" /calculated_mol_wt=98087 Region 1..142 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 154..177 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 332..394 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 459..497 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" Region 731..754 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8C0C4.2)" CDS 1..895 /gene="Ccser1" /gene_synonym="6230405M12Rik; C130092O11Rik; Fam190a" /coded_by="NM_183310.2:371..3058" /db_xref="CCDS:CCDS51800.1" /db_xref="GeneID:232035" /db_xref="MGI:MGI:3045354" ORIGIN 1 mgdsgsrrct lvsrlpifrk sinrrhdslp sspsssntag vhssspsstn sssgstgkrr 61 sifrapsisf hhkkgsepkp epteqnlsis ngaqpshsnm qklsleehvk trgrhsvgfs 121 ssrskkitrs ltedfereke pstnknvfin clssgrsegd dsgfteeqsr rsikqstkkl 181 lpksfsshyk fcksvpqsqs tsliqqpefs laiaqyqeqe aalgrpspsc svdvterags 241 slqspllsad lttaqtpsef laltedslse adafpksgst ashcdnfghn datsqptssl 301 tavsktkmef vgtapcvmsp gryrlegrcs telhsspetp agnrrevslq stelsvgngs 361 dpethlpahh qrgesplaha gepalrtgsp rtlgsydqhk alaerfkgvh pvsdsrvips 421 sgdhvfnkts ygyeasaakv lasslspyre gryierrlrs ssegtagssr mvlkpkdghv 481 easslrkhrt gsssskmnsl dvlnhlgsce ldeddlmldl efleeqnlqp pvcredschs 541 vmsctavlls pvdpgkevnm leepkcpeps kqnlslritk dtdqearcsh vscmpnspsa 601 dwpqqgveen ggidslpfrl mlqectavkt lllkmkrvlq esdvspssst tslpisplte 661 eplpfkditr decsmlrlql kdrdelisql qaelekvqhl qkafasrvdk stqtellgcd 721 glslkrleav qggretthrn rtmsqshstr drkaihtpte drfrystadq tspyknicql 781 pglclsnflk dkelggvmkh trgnheavts emtqnsrttm gqsflkaaak peglpmfsek 841 pkdpaalsrq hstftgrfgq pprgpislht ysrknvflhh nlhttefqtl gqqdg // LOCUS NP_001397162 481 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform j [Mus musculus]. ACCESSION NP_001397162 VERSION NP_001397162.1 DBSOURCE REFSEQ: accession NM_001410233.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 481) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 481) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 481) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 481) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 481) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 481) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 481) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 481) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 481) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 481) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17253012.10499231.1, SRR17253014.3266979.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..481 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..481 /product="nuclear respiratory factor 1 isoform j" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=51463 Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..481 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410233.1:271..1716" /note="isoform j is encoded by transcript variant 23" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lfmadcggyk wilarrlqaq mefmhgpsak 481 p // LOCUS NP_001349258 474 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 47 [Mus musculus]. ACCESSION NP_001349258 VERSION NP_001349258.1 DBSOURCE REFSEQ: accession NM_001362329.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 474) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 474) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 474) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 474) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 474) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 474) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 474) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 474) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 474) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 474) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.202000.1, SRR1660813.159558.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..474 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..474 /product="CUGBP Elav-like family member 4 isoform 47" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50605 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 141..221 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(143,145,147..148,151,170,172,174,182..184,186,216, 218) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..463 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..474 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362329.1:531..1955" /note="isoform 47 is encoded by transcript variant 49" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrge drklfvgmln kqqseddvrr lfeafgniee ctilrgpdgn 181 skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr mqqmagqmgm 241 fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda nrpy // LOCUS NP_001277687 1053 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 7 isoform b [Mus musculus]. ACCESSION NP_001277687 XP_006528775 VERSION NP_001277687.1 DBSOURCE REFSEQ: accession NM_001290758.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1053) AUTHORS Huang Y, Liu D, Chen M, Xu S, Peng Q, Zhu Y, Long J, Liu T, Deng Z, Xie H, Li J, Liu F and Xiao W. TITLE TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea JOURNAL PeerJ 11, e15976 (2023) PUBMED 37780385 REMARK GeneRIF: TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1053) AUTHORS Miles MA, Liong S, Liong F, Coward-Smith M, Trollope GS, Oseghale O, Erlich JR, Brooks RD, Logan JM, Hickey S, Wang H, Bozinovski S, O'Leary JJ, Brooks DA and Selemidis S. TITLE TLR7 promotes chronic airway disease in RSV-infected mice JOURNAL Front Immunol 14, 1240552 (2023) PUBMED 37795093 REMARK GeneRIF: TLR7 promotes chronic airway disease in RSV-infected mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1053) AUTHORS Cosgrove HA, Gingras S, Kim M, Bastacky S, Tilstra JS and Shlomchik MJ. TITLE B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice JOURNAL JCI Insight 8 (16), e172219 (2023) PUBMED 37606042 REMARK GeneRIF: B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1053) AUTHORS Kim J, Ha S, Son M, Kim D, Kim MJ, Kim B, Kim D, Chung HY and Chung KW. TITLE TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells JOURNAL Cell Commun Signal 21 (1), 215 (2023) PUBMED 37596656 REMARK GeneRIF: TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1053) AUTHORS Jackson WD, Giacomassi C, Ward S, Owen A, Luis TC, Spear S, Woollard KJ, Johansson C, Strid J and Botto M. TITLE TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity JOURNAL Elife 12, e85647 (2023) PUBMED 37566453 REMARK GeneRIF: TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1053) AUTHORS Heil F, Hemmi H, Hochrein H, Ampenberger F, Kirschning C, Akira S, Lipford G, Wagner H and Bauer S. TITLE Species-specific recognition of single-stranded RNA via toll-like receptor 7 and 8 JOURNAL Science 303 (5663), 1526-1529 (2004) PUBMED 14976262 REMARK GeneRIF: mediates species-specific recognition of GU-rich single-stranded RNA (ssRNA); data suggest that ssRNA represents a physiological ligand for TLR7 REFERENCE 7 (residues 1 to 1053) AUTHORS Diebold SS, Kaisho T, Hemmi H, Akira S and Reis e Sousa C. TITLE Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA JOURNAL Science 303 (5663), 1529-1531 (2004) PUBMED 14976261 REMARK GeneRIF: results identify ssRNA as a ligand for TLR7 and suggest that cells of the innate immune system sense endosomal ssRNA to detect infection by RNA viruses REFERENCE 8 (residues 1 to 1053) AUTHORS Pinhal-Enfield G, Ramanathan M, Hasko G, Vogel SN, Salzman AL, Boons GJ and Leibovich SJ. TITLE An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors JOURNAL Am J Pathol 163 (2), 711-721 (2003) PUBMED 12875990 REMARK GeneRIF: Results suggest novel signaling pathway in murine macrophages involving synergy between toll-like receptors 2, 4, 7, and 9 and adenosine A(2A)receptors, that up-regulates VEGF and down-regulates TNFalpha expression, thus acting as an angiogenic switch. REFERENCE 9 (residues 1 to 1053) AUTHORS Jurk,M., Heil,F., Vollmer,J., Schetter,C., Krieg,A.M., Wagner,H., Lipford,G. and Bauer,S. TITLE Human TLR7 or TLR8 independently confer responsiveness to the antiviral compound R-848 JOURNAL Nat Immunol 3 (6), 499 (2002) PUBMED 12032557 REFERENCE 10 (residues 1 to 1053) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL731735.14, BY204351.1, AJ812652.1, AK036549.1 and BY543663.1. On Mar 19, 2014 this sequence version replaced XP_006528775.1. Transcript Variant: This variant (5) lacks an alternate exon in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BY204351.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1053 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 78.31 cM" Protein 1..1053 /product="toll-like receptor 7 isoform b" /note="Toll like receptor 7" /calculated_mol_wt=122091 Region <35..>246 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 51..72 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 73..93 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 94..131 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 132..155 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 177..>789 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Region 177..208 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 209..229 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 230..253 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 254..294 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 295..318 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 319..344 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 345..401 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 402..425 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 500..522 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 523..547 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 548..571 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 572..601 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 602..624 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 625..655 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 656..680 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 681..704 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 705..728 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 753..778 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 757..>841 /region_name="PCC" /note="polycystin cation channel protein; TIGR00864" /db_xref="CDD:188093" Region 894..1039 /region_name="TIR" /note="Toll - interleukin 1 - resistance; smart00255" /db_xref="CDD:214587" CDS 1..1053 /gene="Tlr7" /coded_by="NM_001290758.1:304..3465" /note="isoform b is encoded by transcript variant 5" /db_xref="GeneID:170743" /db_xref="MGI:MGI:2176882" ORIGIN 1 maqwvfsmwt rkrqilifln mllvsrvfgf rwfpktlpce vkvnipeahv ivdctdkhlt 61 eipegiptnt tnltltinhi psispdsfrr lnhleeidlr cncvpvllgs kanvctkrlq 121 irpgsfsgls dlkalyldgn qlleipqdlp sslhllslea nnifsitken ltelvnietl 181 ylgqncyyrn pcnvsysiek daflvmrnlk vlslkdnnvt avpttlppnl lelylynnii 241 kkiqendfnn lnelqvldls gncprcynvp ypctpcenns plqihdnafn sltelkvlrl 301 hsnslqhvpp twfknmrnlq eldlsqnyla reieeakflh flpnlveldf sfnyelqvyh 361 asitlphsls slenlkilrv kgyvfkelkn sslsvlhklp rlevldlgtn fikiadlnif 421 khfenlklid lsvnkispse esrevgfcpn aqtsvdrhgp qvlealhyfr ydeyarscrf 481 knkeppsflp lnadchiygq tldlsrnnif fikpsdfqhl sflkclnlsg ntigqtlngs 541 elwplrelry ldfsnnrldl lystafeelq slevldlssn shyfqaegit hmlnftkklr 601 lldklmmndn distsasrtm esdslrilef rgnhldvlwr agdnryldff knlfnlevld 661 isrnslnslp pevfegmppn lknlslakng lksffwdrlq llkhleildl shnqltkvpe 721 rlancskslt tlilkhnqir qltkyfleda lqlryldiss nkiqviqkts fpenvlnnle 781 mlvlhhnrfl cncdavwfvw wvnhtdvtip ylatdvtcvg pgahkgqsvi sldlytceld 841 ltnlilfsvs issvlflmvv mttshlffwd mwyiyyfwka kikgyqhlqs mescydafiv 901 ydtknsavte wvlqelvakl edprekhfnl cleerdwlpg qpvlenlsqs iqlskktvfv 961 mtqkyaktes fkmafylshq rlldekvdvi iliflekplq kskflqlrkr lcrssvlewp 1021 anpqahpyfw qclknalttd nhvaysqmfk etv // LOCUS NP_001239406 254 aa linear ROD 09-OCT-2023 DEFINITION protein arginine N-methyltransferase 1 isoform 3 [Mus musculus]. ACCESSION NP_001239406 VERSION NP_001239406.1 DBSOURCE REFSEQ: accession NM_001252477.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 254) AUTHORS Ye H, Cao L, Jackson-Weaver O, Zheng L and Gou Y. TITLE PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling JOURNAL Bone 176, 116887 (2023) PUBMED 37634683 REMARK GeneRIF: PRMT1-mediated arginine methylation promotes postnatal calvaria bone formation through BMP-Smad signaling. REFERENCE 2 (residues 1 to 254) AUTHORS Zhu Y, Wang L, Liu R, Ding X, Yin S, Chen Y, Zhu C, Wang Z and Li W. TITLE Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways JOURNAL FEBS Open Bio 13 (10), 1859-1873 (2023) PUBMED 37525933 REMARK GeneRIF: Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways. REFERENCE 3 (residues 1 to 254) AUTHORS Litzler LC, Zahn A, Dionne KL, Sprumont A, Ferreira SR, Slattery MRF, Methot SP, Patenaude AM, Hebert S, Kabir N, Subramani PG, Jung S, Richard S, Kleinman CL and Di Noia JM. TITLE Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice JOURNAL J Exp Med 220 (9) (2023) PUBMED 37310381 REMARK GeneRIF: Protein arginine methyltransferase 1 regulates B cell fate after positive selection in the germinal center in mice. REFERENCE 4 (residues 1 to 254) AUTHORS Li Q, Jiao J, Heng Y, Lu Q, Zheng Y, Li H, Cai J, Mei M and Bao S. TITLE Prmt5 promotes ciliated cell specification of airway epithelial progenitors via transcriptional inhibition of Tp63 JOURNAL J Biol Chem 299 (8), 104964 (2023) PUBMED 37364687 REFERENCE 5 (residues 1 to 254) AUTHORS Liu J, Bu X, Chu C, Dai X, Asara JM, Sicinski P, Freeman GJ and Wei W. TITLE PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity JOURNAL Nat Commun 14 (1), 2806 (2023) PUBMED 37193698 REMARK GeneRIF: PRMT1 mediated methylation of cGAS suppresses anti-tumor immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 254) AUTHORS Cimato TR, Tang J, Xu Y, Guarnaccia C, Herschman HR, Pongor S and Aletta JM. TITLE Nerve growth factor-mediated increases in protein methylation occur predominantly at type I arginine methylation sites and involve protein arginine methyltransferase 1 JOURNAL J Neurosci Res 67 (4), 435-442 (2002) PUBMED 11835310 REMARK GeneRIF: Type I protein arginine methyltransferase (PRMT) activity produces asymmetric dimethylation of the terminal guanidinonitrogen of arginines in substrate proteins, particularly glycine and arginine-rich (GAR) segments of proteins REFERENCE 7 (residues 1 to 254) AUTHORS Pawlak MR, Scherer CA, Chen J, Roshon MJ and Ruley HE. TITLE Arginine N-methyltransferase 1 is required for early postimplantation mouse development, but cells deficient in the enzyme are viable JOURNAL Mol Cell Biol 20 (13), 4859-4869 (2000) PUBMED 10848611 REFERENCE 8 (residues 1 to 254) AUTHORS Brady KP, Rowe LB, Her H, Stevens TJ, Eppig J, Sussman DJ, Sikela J and Beier DR. TITLE Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis JOURNAL Genome Res 7 (11), 1085-1093 (1997) PUBMED 9371744 REFERENCE 9 (residues 1 to 254) AUTHORS Scherer CA, Chen J, Nachabeh A, Hopkins N and Ruley HE. TITLE Transcriptional specificity of the pluripotent embryonic stem cell JOURNAL Cell Growth Differ 7 (10), 1393-1401 (1996) PUBMED 8891343 REFERENCE 10 (residues 1 to 254) AUTHORS Lin WJ, Gary JD, Yang MC, Clarke S and Herschman HR. TITLE The mammalian immediate-early TIS21 protein and the leukemia-associated BTG1 protein interact with a protein-arginine N-methyltransferase JOURNAL J Biol Chem 271 (25), 15034-15044 (1996) PUBMED 8663146 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU524421.1, AK020120.1, W49313.1 and AI846916.1. Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK020120.1, SRR10662772.216097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164141 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..254 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 29.07 cM" Protein 1..254 /product="protein arginine N-methyltransferase 1 isoform 3" /EC_number="2.1.1.319" /note="arginine N-methyltransferase 1; histone-arginine N-methyltransferase PRMT1; heterogeneous nuclear ribonucleoproteins methyltransferase-like 2" /calculated_mol_wt=28778 Region <66..>140 /region_name="AdoMet_MTases" /note="S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy); cl17173" /db_xref="CDD:450167" Site order(77..83,100,104,126..128) /site_type="other" /note="S-adenosylmethionine binding site [chemical binding]" /db_xref="CDD:100107" CDS 1..254 /gene="Prmt1" /gene_synonym="6720434D09Rik; Hrmt1l2; Mrmt1" /coded_by="NM_001252477.1:103..867" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS85293.1" /db_xref="GeneID:15469" /db_xref="MGI:MGI:107846" ORIGIN 1 maaaeaanci mevscgqaes sekpnaedmt skdyyfdsya hfgiheemlk devrtltyrn 61 smfhnrhlfk dkvvldvgsg tgilcmfaak agarkvigie cssisdyavk ivkankldhv 121 vtiikgkvee velpvekvdi ytvkvedltf tspfclqvkr ndyvhalvay fnieftrchk 181 rtgfstspes pythwkqtvf ymedyltvkt geeifgtigm rpnaknnrdl dftidldfkg 241 qlcelscstd yrmr // LOCUS NP_001394505 440 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 8 [Mus musculus]. ACCESSION NP_001394505 VERSION NP_001394505.1 DBSOURCE REFSEQ: accession NM_001407576.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 440) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 440) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 440) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 440) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 440) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 440) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 440) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 440) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 440) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 440) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7652917.575432.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..440 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..440 /product="mitogen-activated protein kinase 10 isoform 8" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=49598 Region 63..374 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,337..338,340,343) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..440 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407576.1:517..1839" /note="isoform 8 is encoded by transcript variant 11" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kendidqwnk vieqlgtpcp efmkklqptv rnyvenrpky agltfpklfp dslfpadseh 301 nklkasqard llskmlvidp akrisvddal qhpyinvwyd paeveapppq iydkqldere 361 htieewkeli ykevmnseek tkngvvkgqp spsgaavnss eslppsssvn dissmstdqt 421 lasdtdssle asagplgccr // LOCUS NP_001103610 1044 aa linear ROD 09-OCT-2023 DEFINITION sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform b [Mus musculus]. ACCESSION NP_001103610 VERSION NP_001103610.1 DBSOURCE REFSEQ: accession NM_001110140.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1044) AUTHORS Iida H, Kono T, Lee CC, Krishnan P, Arvin MC, Weaver SA, Jarvela TS, Branco RCS, McLaughlin MR, Bone RN, Tong X, Arvan P, Lindberg I and Evans-Molina C. TITLE SERCA2 regulates proinsulin processing and processing enzyme maturation in pancreatic beta cells JOURNAL Diabetologia 66 (11), 2042-2061 (2023) PUBMED 37537395 REMARK GeneRIF: SERCA2 regulates proinsulin processing and processing enzyme maturation in pancreatic beta cells. REFERENCE 2 (residues 1 to 1044) AUTHORS Karatsai O, Lehka L, Wojton D, Grabowska AI, Duda MK, Lenartowski R and Redowicz MJ. TITLE Unconventional myosin VI in the heart: Involvement in cardiac dysfunction progressing with age JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (6), 166748 (2023) PUBMED 37169038 REFERENCE 3 (residues 1 to 1044) AUTHORS Chen HX, Wang XC, Hou HT, Wang J, Yang Q, Chen YL, Chen HZ and He GW. TITLE Lysine crotonylation of SERCA2a correlates to cardiac dysfunction and arrhythmia in Sirt1 cardiac-specific knockout mice JOURNAL Int J Biol Macromol 242 (Pt 4), 125151 (2023) PUBMED 37270127 REMARK GeneRIF: Lysine crotonylation of SERCA2a correlates to cardiac dysfunction and arrhythmia in Sirt1 cardiac-specific knockout mice. REFERENCE 4 (residues 1 to 1044) AUTHORS Skogestad J, Albert I, Hougen K, Lothe GB, Lunde M, Eken OS, Veras I, Huynh NTT, Borstad M, Marshall S, Shen X, Louch WE, Robinson EL, Cleveland JC Jr, Ambardekar AV, Schwisow JA, Jonas E, Calejo AI, Morth JP, Tasken K, Melleby AO, Lunde PK, Sjaastad I, Carlson CR and Aronsen JM. TITLE Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure JOURNAL Circulation 147 (16), 1221-1236 (2023) PUBMED 36876489 REMARK GeneRIF: Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure. REFERENCE 5 (residues 1 to 1044) AUTHORS Ye B, Zhou H, Chen Y, Luo W, Lin W, Zhao Y, Han J, Han X, Huang W, Wu G, Wang X and Liang G. TITLE USP25 Ameliorates Pathological Cardiac Hypertrophy by Stabilizing SERCA2a in Cardiomyocytes JOURNAL Circ Res 132 (4), 465-480 (2023) PUBMED 36722348 REMARK GeneRIF: USP25 Ameliorates Pathological Cardiac Hypertrophy by Stabilizing SERCA2a in Cardiomyocytes. REFERENCE 6 (residues 1 to 1044) AUTHORS Ko MS, Threat TA, Wang X, Horton JH, Cui Y, Wang X, Pryor E, Paris J, Wells-Smith J, Kitchen JR, Rowe LB, Eppig J, Satoh T, Brant L, Fujiwara H, Yotsumoto S and Nakashima H. TITLE Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome JOURNAL Hum Mol Genet 7 (12), 1967-1978 (1998) PUBMED 9811942 REFERENCE 7 (residues 1 to 1044) AUTHORS Ya J, Erdtsieck-Ernste EB, de Boer PA, van Kempen MJ, Jongsma H, Gros D, Moorman AF and Lamers WH. TITLE Heart defects in connexin43-deficient mice JOURNAL Circ Res 82 (3), 360-366 (1998) PUBMED 9486664 REMARK Review article REFERENCE 8 (residues 1 to 1044) AUTHORS Harrer JM, Haghighi K, Kim HW, Ferguson DG and Kranias EG. TITLE Coordinate regulation of SR Ca(2+)-ATPase and phospholamban expression in developing murine heart JOURNAL Am J Physiol 272 (1 Pt 2), H57-H66 (1997) PUBMED 9038922 REFERENCE 9 (residues 1 to 1044) AUTHORS Hawkins C, Xu A and Narayanan N. TITLE Sarcoplasmic reticulum calcium pump in cardiac and slow twitch skeletal muscle but not fast twitch skeletal muscle undergoes phosphorylation by endogenous and exogenous Ca2+/calmodulin-dependent protein kinase. Characterization of optimal conditions for calcium pump phosphorylation JOURNAL J Biol Chem 269 (49), 31198-31206 (1994) PUBMED 7983062 REFERENCE 10 (residues 1 to 1044) AUTHORS Hsu DK, Donohue PJ, Alberts GF and Winkles JA. TITLE Fibroblast growth factor-1 induces phosphofructokinase, fatty acid synthase and Ca(2+)-ATPase mRNA expression in NIH 3T3 cells JOURNAL Biochem Biophys Res Commun 197 (3), 1483-1491 (1993) PUBMED 7506544 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ162528.1, AK220538.1, AJ131821.1 and CF742600.1. Transcript Variant: This variant (1) encodes the longer isoform (b), also known as SERCA2B. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ131821.1, AK220538.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1044 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 62.38 cM" Protein 1..1044 /product="sarcoplasmic/endoplasmic reticulum calcium ATPase 2 isoform b" /EC_number="7.2.2.10" /note="sarcoplasmic/endoplasmic reticulum calcium ATPase 2; calcium pump 2; SR Ca(2+)-ATPase 2; endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarco/endoplasmic reticulum Ca2+-ATPase 2" /calculated_mol_wt=114728 Region 5..988 /region_name="P-type_ATPase_SERCA" /note="sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3; cd02083" /db_xref="CDD:319778" Site 38 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 49..69 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 90..110 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 254..273 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 296..313 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site order(309,795,799) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:319778" Site order(351..353,442,487,489,492,494,514..516,559,561, 624..626,677,683,702,705) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:319778" Site 441 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q64578; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 531 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Region 575..594 /region_name="Interaction with HAX1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 580 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P16615; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 661 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P11507; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 663 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 757..776 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site order(767,770,798..799,907) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:319778" Region 787..807 /region_name="Interaction with PLN. /evidence=ECO:0000250|UniProtKB:P04191" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 787..807 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Region 788..1044 /region_name="Interaction with TMEM64 and PDIA3. /evidence=ECO:0000269|PubMed:23395171" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 828..850 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 897..916 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 930..948 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Region 931..942 /region_name="Interaction with PLN. /evidence=ECO:0000250|UniProtKB:P04191" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" Site 964..984 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O55143.2)" CDS 1..1044 /gene="Atp2a2" /gene_synonym="9530097L16Rik; D5Wsu150e; mKIAA4195; SERCA2; Serca2a; SERCA2B" /coded_by="NM_001110140.3:541..3675" /note="isoform b is encoded by transcript variant 1" /db_xref="CCDS:CCDS57378.1" /db_xref="GeneID:11938" /db_xref="MGI:MGI:88110" ORIGIN 1 menahtktve evlghfgvne stglsleqvk klkerwgsne lpaeegktll elvieqfedl 61 lvrilllaac isfvlawfee geetitafve pfvillilva naivgvwqer naenaiealk 121 eyepemgkvy rqdrksvqri kakdivpgdi veiavgdkvp adirltsiks ttlrvdqsil 181 tgesvsvikh tdpvpdprav nqdkknmlfs gtniaagkam gvvvatgvnt eigkirdemv 241 ateqertplq qkldefgeql skvislicia vwiinighfn dpvhggswir gaiyyfkiav 301 alavaaipeg lpavittcla lgtrrmakkn aivrslpsve tlgctsvics dktgtlttnq 361 msvcrmfild kvegdtcsln efsitgstya pigevqkddk pvkchqydgl velaticalc 421 ndsaldynea kgvyekvgea tetaltclve kmnvfdtelk glskierana cnsvikqlmk 481 keftlefsrd rksmsvyctp nkpsrtsmsk mfvkgapegv idrcthirvg stkvpmtpgv 541 kqkimsvire wgsgsdtlrc lalathdnpl kreemhleds anfikyetnl tfvgcvgmld 601 pprievassv klcrqagirv imitgdnkgt avaicrrigi fgqdedvtsk aftgrefdel 661 spsaqrdacl narcfarvep shkskivefl qsfdeitamt gdgvndapal kkseigiamg 721 sgtavaktas emvladdnfs tivaaveegr aiynnmkqfi rylissnvge vvcifltaal 781 gfpealipvq llwvnlvtdg lpatalgfnp pdldimnkpp rnpkeplisg wlffrylaig 841 cyvgaatvga aawwfiaadg gprvsfyqls hflqckednp dfdgvdcaif espypmtmal 901 svlvtiemcn alnslsenqs llrmppweni wlvgsiclsm slhflilyve plplifqitp 961 lnltqwlmvl kislpvilmd etlkfvarny leqpgkecvq patksscsls actdgiswpf 1021 vllimplvvw vystdtnfsd mfws // LOCUS NP_001103776 624 aa linear ROD 09-OCT-2023 DEFINITION kelch-like ECH-associated protein 1 [Mus musculus]. ACCESSION NP_001103776 VERSION NP_001103776.1 DBSOURCE REFSEQ: accession NM_001110306.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 624) AUTHORS Li F, Huang H, Zhao P, Jiang J, Ding X, Lu D and Ji L. TITLE Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier JOURNAL Int J Mol Med 52 (5) (2023) PUBMED 37772380 REMARK GeneRIF: Curculigoside mitigates dextran sulfate sodium-induced colitis by activation of KEAP1-NRF2 interaction to inhibit oxidative damage and autophagy of intestinal epithelium barrier. REFERENCE 2 (residues 1 to 624) AUTHORS Baird L, Taguchi K, Zhang A, Takahashi Y, Suzuki T, Kensler TW and Yamamoto M. TITLE A NRF2-induced secretory phenotype activates immune surveillance to remove irreparably damaged cells JOURNAL Redox Biol 66, 102845 (2023) PUBMED 37597423 REFERENCE 3 (residues 1 to 624) AUTHORS Zhang A, Suzuki T, Adachi S, Yoshida E, Sakaguchi S and Yamamoto M. TITLE Nrf2 activation improves experimental rheumatoid arthritis JOURNAL Free Radic Biol Med 207, 279-295 (2023) PUBMED 37494986 REMARK GeneRIF: Nrf2 activation improves experimental rheumatoid arthritis. REFERENCE 4 (residues 1 to 624) AUTHORS Ushimoto C, Sugiki S, Kunii K, Inoue S, Kuroda E, Akai R, Iwawaki T and Miyazawa K. TITLE Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation JOURNAL Free Radic Biol Med 207, 120-132 (2023) PUBMED 37451369 REMARK GeneRIF: Dynamic change and preventive role of stress response via Keap1-Nrf2 during renal crystal formation. REFERENCE 5 (residues 1 to 624) AUTHORS Zhou M, Barkema HW, Gao J, Yang J, Wang Y, Kastelic JP, Khan S, Liu G and Han B. TITLE MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands JOURNAL Vet Res 54 (1), 78 (2023) PUBMED 37710276 REMARK GeneRIF: MicroRNA miR-223 modulates NLRP3 and Keap1, mitigating lipopolysaccharide-induced inflammation and oxidative stress in bovine mammary epithelial cells and murine mammary glands. Publication Status: Online-Only REFERENCE 6 (residues 1 to 624) AUTHORS Zipper LM and Mulcahy RT. TITLE The Keap1 BTB/POZ dimerization function is required to sequester Nrf2 in cytoplasm JOURNAL J Biol Chem 277 (39), 36544-36552 (2002) PUBMED 12145307 REFERENCE 7 (residues 1 to 624) AUTHORS Dinkova-Kostova AT, Holtzclaw WD, Cole RN, Itoh K, Wakabayashi N, Katoh Y, Yamamoto M and Talalay P. TITLE Direct evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants JOURNAL Proc Natl Acad Sci U S A 99 (18), 11908-11913 (2002) PUBMED 12193649 REMARK GeneRIF: evidence that sulfhydryl groups of Keap1 are the sensors regulating induction of phase 2 enzymes that protect against carcinogens and oxidants REFERENCE 8 (residues 1 to 624) AUTHORS Kotilinek LA, Bacskai B, Westerman M, Kawarabayashi T, Younkin L, Hyman BT, Younkin S and Ashe KH. TITLE Reversible memory loss in a mouse transgenic model of Alzheimer's disease JOURNAL J Neurosci 22 (15), 6331-6335 (2002) PUBMED 12151510 REFERENCE 9 (residues 1 to 624) AUTHORS Itoh K, Wakabayashi N, Katoh Y, Ishii T, Igarashi K, Engel JD and Yamamoto M. TITLE Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain JOURNAL Genes Dev 13 (1), 76-86 (1999) PUBMED 9887101 REFERENCE 10 (residues 1 to 624) AUTHORS Chu CC and Paul WE. TITLE Expressed genes in interleukin-4 treated B cells identified by cDNA representational difference analysis JOURNAL Mol Immunol 35 (8), 487-502 (1998) PUBMED 9798653 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC163637.4, CJ179527.1, AK004738.1 and BY586021.1. Transcript Variant: This variant (3) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 all encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.23849.1, SRR1660811.104923.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..624 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 7.74 cM" Protein 1..624 /product="kelch-like ECH-associated protein 1" /note="NRF2 cytosolic inhibitor; cytosolic inhibitor of Nrf2; ring canal protein" /calculated_mol_wt=69422 Region 56..180 /region_name="BTB_POZ_KLHL19_KEAP1" /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like ECH-associated protein 1 (KEAP1); cd18248" /db_xref="CDD:349557" Region 95..596 /region_name="PHA03098" /note="kelch-like protein; Provisional" /db_xref="CDD:222983" Site order(106,109..110,115..117,125..126,157,161..162) /site_type="other" /note="cullin binding site [polypeptide binding]" /db_xref="CDD:349557" Site order(129,131..132,147..148,150..151,154) /site_type="other" /note="modulator binding site [chemical binding]" /db_xref="CDD:349557" Site 151 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:18268004, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 257 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000250|UniProtKB:Q14145; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 273 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 288 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:14764894, ECO:0000269|PubMed:22014577, ECO:0000269|PubMed:26527616; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 327..372 /region_name="Kelch 1" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 362..409 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 373..423 /region_name="Kelch 2" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 413..456 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 424..470 /region_name="Kelch 3" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Site 434 /site_type="other" /note="Sensor for electrophilic agents. /evidence=ECO:0000269|PubMed:20498371; propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 460..503 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 471..517 /region_name="Kelch 4" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 507..551 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 519..564 /region_name="Kelch 5" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" Region 554..597 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 565..611 /region_name="Kelch 6" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2X8.1)" CDS 1..624 /gene="Keap1" /gene_synonym="INRF2; mKIAA0132" /coded_by="NM_001110306.1:473..2347" /db_xref="CCDS:CCDS22897.1" /db_xref="GeneID:50868" /db_xref="MGI:MGI:1858732" ORIGIN 1 mqpepklsga prssqflplw skcpegagda vmyastecka evtpsqdgnr tfsytledht 61 kqafgvmnel rlsqqlcdvt lqvkyedipa aqfmahkvvl assspvfkam ftnglreqgm 121 evvsiegihp kvmerliefa ytasisvgek cvlhvmngav myqidsvvra csdflvqqld 181 psnaigianf aeqigctelh qrareyiymh fgevakqeef fnlshcqlat lisrddlnvr 241 cesevfhaci dwvkydcpqr rfyvqallra vrchaltprf lqtqlqkcei lqadarckdy 301 lvqifqeltl hkptqavpcr apkvgrliyt aggyfrqsls yleaynpsng swlrladlqv 361 prsglagcvv ggllyavggr nnspdgntds saldcynpmt nqwspcasms vprnrigvgv 421 idghiyavgg shgcihhssv eryeperdew hlvapmltrr igvgvavlnr llyavggfdg 481 tnrlnsaecy ypernewrmi tpmntirsga gvcvlhnciy aaggydgqdq lnsverydve 541 tetwtfvapm rhhrsalgit vhqgkiyvlg gydghtflds vecydpdsdt wsevtrmtsg 601 rsgvgvavtm epcrkqidqq nctc // LOCUS NP_001371101 303 aa linear ROD 09-OCT-2023 DEFINITION F-box only protein 27 isoform 3 [Mus musculus]. ACCESSION NP_001371101 XP_006539927 VERSION NP_001371101.1 DBSOURCE REFSEQ: accession NM_001384172.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 303) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 303) AUTHORS Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and Harper,J.W. TITLE Systematic analysis and nomenclature of mammalian F-box proteins JOURNAL Genes Dev 18 (21), 2573-2580 (2004) PUBMED 15520277 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC109162.12. On Jun 2, 2020 this sequence version replaced XP_006539927.1. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.2821506.1, SRR17784650.806135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..303 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 16.89 cM" Protein 1..303 /product="F-box only protein 27 isoform 3" /note="F-box only protein 27" /calculated_mol_wt=33836 Region <60..93 /region_name="F-box_SF" /note="F-box domain superfamily; cl45894" /db_xref="CDD:459239" Region 125..298 /region_name="FBA" /note="F-box associated region; pfam04300" /db_xref="CDD:427850" CDS 1..303 /gene="Fbxo27" /gene_synonym="E130008B10Rik; FBG5; Gm161" /coded_by="NM_001384172.1:23..934" /note="isoform 3 is encoded by transcript variant 4" /db_xref="GeneID:233040" /db_xref="MGI:MGI:2685007" ORIGIN 1 mrssrprrga grgavpakrg agtmgawisr trvptpepdp qevldlsrlp pellllvlsh 61 vpprtllmhc rrvcrawral vdgqalwlll lardhsaagr alltlarrcl ppahedtpcp 121 lgqfcalrpl grnlisnpcg qeglrkwmvr hggdgwvvek nrkpvpgaps qtcfvtsfsw 181 crkkqvvdlv ekglwpelld sggveiavsd wwgarhdsgc kyrlfvtlld ahqnvidkfs 241 avpdpieqwn ndiylqvthv fsgirrgirf vsfehwgqdt qfwaghygar vtnssviirv 301 cqs // LOCUS NP_001277684 1050 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 7 isoform a precursor [Mus musculus]. ACCESSION NP_001277684 XP_006528778 VERSION NP_001277684.1 DBSOURCE REFSEQ: accession NM_001290755.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1050) AUTHORS Huang Y, Liu D, Chen M, Xu S, Peng Q, Zhu Y, Long J, Liu T, Deng Z, Xie H, Li J, Liu F and Xiao W. TITLE TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea JOURNAL PeerJ 11, e15976 (2023) PUBMED 37780385 REMARK GeneRIF: TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1050) AUTHORS Miles MA, Liong S, Liong F, Coward-Smith M, Trollope GS, Oseghale O, Erlich JR, Brooks RD, Logan JM, Hickey S, Wang H, Bozinovski S, O'Leary JJ, Brooks DA and Selemidis S. TITLE TLR7 promotes chronic airway disease in RSV-infected mice JOURNAL Front Immunol 14, 1240552 (2023) PUBMED 37795093 REMARK GeneRIF: TLR7 promotes chronic airway disease in RSV-infected mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1050) AUTHORS Cosgrove HA, Gingras S, Kim M, Bastacky S, Tilstra JS and Shlomchik MJ. TITLE B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice JOURNAL JCI Insight 8 (16), e172219 (2023) PUBMED 37606042 REMARK GeneRIF: B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1050) AUTHORS Kim J, Ha S, Son M, Kim D, Kim MJ, Kim B, Kim D, Chung HY and Chung KW. TITLE TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells JOURNAL Cell Commun Signal 21 (1), 215 (2023) PUBMED 37596656 REMARK GeneRIF: TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1050) AUTHORS Jackson WD, Giacomassi C, Ward S, Owen A, Luis TC, Spear S, Woollard KJ, Johansson C, Strid J and Botto M. TITLE TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity JOURNAL Elife 12, e85647 (2023) PUBMED 37566453 REMARK GeneRIF: TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1050) AUTHORS Heil F, Hemmi H, Hochrein H, Ampenberger F, Kirschning C, Akira S, Lipford G, Wagner H and Bauer S. TITLE Species-specific recognition of single-stranded RNA via toll-like receptor 7 and 8 JOURNAL Science 303 (5663), 1526-1529 (2004) PUBMED 14976262 REMARK GeneRIF: mediates species-specific recognition of GU-rich single-stranded RNA (ssRNA); data suggest that ssRNA represents a physiological ligand for TLR7 REFERENCE 7 (residues 1 to 1050) AUTHORS Diebold SS, Kaisho T, Hemmi H, Akira S and Reis e Sousa C. TITLE Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA JOURNAL Science 303 (5663), 1529-1531 (2004) PUBMED 14976261 REMARK GeneRIF: results identify ssRNA as a ligand for TLR7 and suggest that cells of the innate immune system sense endosomal ssRNA to detect infection by RNA viruses REFERENCE 8 (residues 1 to 1050) AUTHORS Pinhal-Enfield G, Ramanathan M, Hasko G, Vogel SN, Salzman AL, Boons GJ and Leibovich SJ. TITLE An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors JOURNAL Am J Pathol 163 (2), 711-721 (2003) PUBMED 12875990 REMARK GeneRIF: Results suggest novel signaling pathway in murine macrophages involving synergy between toll-like receptors 2, 4, 7, and 9 and adenosine A(2A)receptors, that up-regulates VEGF and down-regulates TNFalpha expression, thus acting as an angiogenic switch. REFERENCE 9 (residues 1 to 1050) AUTHORS Jurk,M., Heil,F., Vollmer,J., Schetter,C., Krieg,A.M., Wagner,H., Lipford,G. and Bauer,S. TITLE Human TLR7 or TLR8 independently confer responsiveness to the antiviral compound R-848 JOURNAL Nat Immunol 3 (6), 499 (2002) PUBMED 12032557 REFERENCE 10 (residues 1 to 1050) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL731735.14, AK036549.1, AJ812654.1 and BY543663.1. On Mar 19, 2014 this sequence version replaced XP_006528778.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (a). Variants 1, 2, 3, and 4 encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK154906.1, BY218724.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164142, SAMN02415133 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1050 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 78.31 cM" Protein 1..1050 /product="toll-like receptor 7 isoform a precursor" /note="Toll like receptor 7" /calculated_mol_wt=118668 sig_peptide 1..26 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" /calculated_mol_wt=3187 Region <32..>243 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 42..64 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 48..69 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 65..87 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 66 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 69 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 70..90 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 89..111 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 91..128 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 126..149 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 129..152 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 151..170 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 167 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 171..195 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 174..>786 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Region 174..205 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 203..226 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 206..226 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 215 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 227..250 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 228..247 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 248..273 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 251..291 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 275..289 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 290..312 /region_name="LRR 11" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 292..315 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 314..337 /region_name="LRR 12" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 316..341 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..364 /region_name="LRR 13" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 342..398 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 369..392 /region_name="LRR 14" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 387 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 396..419 /region_name="LRR 15" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 399..422 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 421..443 /region_name="LRR 16" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 493..516 /region_name="LRR 17" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 497..519 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 517..542 /region_name="LRR 18" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 520..544 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 524 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 535 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 543..565 /region_name="LRR 19" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 545..568 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 567..589 /region_name="LRR 20" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 569..598 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 591 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 596..619 /region_name="LRR 21" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 599..621 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 620..645 /region_name="LRR 22" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 622..652 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 650..673 /region_name="LRR 23" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 653..677 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 675..698 /region_name="LRR 24" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 678..701 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 680 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 699..722 /region_name="LRR 25" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 702..725 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 721 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 724..746 /region_name="LRR 26" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 747..770 /region_name="LRR 27" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 750..775 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 754..>838 /region_name="PCC" /note="polycystin cation channel protein; TIGR00864" /db_xref="CDD:188093" Region 773..796 /region_name="LRR 28" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 800 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 838..858 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 891..1036 /region_name="TIR" /note="Toll - interleukin 1 - resistance; smart00255" /db_xref="CDD:214587" CDS 1..1050 /gene="Tlr7" /coded_by="NM_001290755.1:381..3533" /note="isoform a precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS72469.1" /db_xref="GeneID:170743" /db_xref="MGI:MGI:2176882" ORIGIN 1 mvfsmwtrkr qiliflnmll vsrvfgfrwf pktlpcevkv nipeahvivd ctdkhlteip 61 egiptnttnl tltinhipsi spdsfrrlnh leeidlrcnc vpvllgskan vctkrlqirp 121 gsfsglsdlk alyldgnqll eipqdlpssl hllsleanni fsitkenlte lvnietlylg 181 qncyyrnpcn vsysiekdaf lvmrnlkvls lkdnnvtavp ttlppnllel ylynniikki 241 qendfnnlne lqvldlsgnc prcynvpypc tpcennsplq ihdnafnslt elkvlrlhsn 301 slqhvpptwf knmrnlqeld lsqnylarei eeakflhflp nlveldfsfn yelqvyhasi 361 tlphslssle nlkilrvkgy vfkelknssl svlhklprle vldlgtnfik iadlnifkhf 421 enlklidlsv nkispseesr evgfcpnaqt svdrhgpqvl ealhyfryde yarscrfknk 481 eppsflplna dchiygqtld lsrnniffik psdfqhlsfl kclnlsgnti gqtlngselw 541 plrelryldf snnrldllys tafeelqsle vldlssnshy fqaegithml nftkklrlld 601 klmmndndis tsasrtmesd slrilefrgn hldvlwragd nryldffknl fnlevldisr 661 nslnslppev fegmppnlkn lslaknglks ffwdrlqllk hleildlshn qltkvperla 721 ncskslttli lkhnqirqlt kyfledalql ryldissnki qviqktsfpe nvlnnlemlv 781 lhhnrflcnc davwfvwwvn htdvtipyla tdvtcvgpga hkgqsvisld lytceldltn 841 lilfsvsiss vlflmvvmtt shlffwdmwy iyyfwkakik gyqhlqsmes cydafivydt 901 knsavtewvl qelvakledp rekhfnlcle erdwlpgqpv lenlsqsiql skktvfvmtq 961 kyaktesfkm afylshqrll dekvdviili flekplqksk flqlrkrlcr ssvlewpanp 1021 qahpyfwqcl knalttdnhv aysqmfketv // LOCUS NP_766277 926 aa linear ROD 09-OCT-2023 DEFINITION antiviral innate immune response receptor RIG-I [Mus musculus]. ACCESSION NP_766277 XP_990501 VERSION NP_766277.3 DBSOURCE REFSEQ: accession NM_172689.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 926) AUTHORS Liu F, Zhuang W, Song B, Yang Y, Liu J, Zheng Y, Liu B, Zheng J, Zhao W and Gao C. TITLE MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade JOURNAL Cell Mol Immunol 20 (10), 1186-1202 (2023) PUBMED 37582970 REMARK GeneRIF: MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade. REFERENCE 2 (residues 1 to 926) AUTHORS Baris A, Fraile-Bethencourt E, Eubanks J, Khou S and Anand S. TITLE Thymidine phosphorylase facilitates retinoic acid inducible gene-I induced endothelial dysfunction JOURNAL Cell Death Dis 14 (4), 294 (2023) PUBMED 37100811 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 926) AUTHORS Dhillon P, Mulholland KA, Hu H, Park J, Sheng X, Abedini A, Liu H, Vassalotti A, Wu J and Susztak K. TITLE Increased levels of endogenous retroviruses trigger fibroinflammation and play a role in kidney disease development JOURNAL Nat Commun 14 (1), 559 (2023) PUBMED 36732547 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 926) AUTHORS Shi Q, Li G, Dou S, Tang L, Hou C, Wang Z, Gao Y, Gao Z, Hao Y, Mo R, Shen B, Wang R, Li Y and Han G. TITLE Negative Regulation of RIG-I by Tim-3 Promotes H1N1 Infection JOURNAL Immunol Invest 52 (1), 1-19 (2023) PUBMED 35997714 REMARK GeneRIF: Negative Regulation of RIG-I by Tim-3 Promotes H1N1 Infection. REFERENCE 5 (residues 1 to 926) AUTHORS Li Z, Zhou Y, Jia K, Yang Y, Zhang L, Wang S, Dong Y, Wang M, Li Y, Lu S, Zhang W, Zhang L, Fan Y, Zhang D, Li N, Yu Y, Cao X and Hou J. TITLE JMJD4-demethylated RIG-I prevents hepatic steatosis and carcinogenesis JOURNAL J Hematol Oncol 15 (1), 161 (2022) PUBMED 36333807 REMARK GeneRIF: JMJD4-demethylated RIG-I prevents hepatic steatosis and carcinogenesis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 926) AUTHORS Kato H, Takeuchi O, Sato S, Yoneyama M, Yamamoto M, Matsui K, Uematsu S, Jung A, Kawai T, Ishii KJ, Yamaguchi O, Otsu K, Tsujimura T, Koh CS, Reis e Sousa C, Matsuura Y, Fujita T and Akira S. TITLE Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses JOURNAL Nature 441 (7089), 101-105 (2006) PUBMED 16625202 REMARK GeneRIF: RIG-I is essential for the production of interferons in response to RNA viruses including paramyxoviruses, influenza virus and Japanese encephalitis virus, whereas MDA5 is critical for picornavirus detection REFERENCE 7 (residues 1 to 926) AUTHORS Ishii KJ, Coban C, Kato H, Takahashi K, Torii Y, Takeshita F, Ludwig H, Sutter G, Suzuki K, Hemmi H, Sato S, Yamamoto M, Uematsu S, Kawai T, Takeuchi O and Akira S. TITLE A Toll-like receptor-independent antiviral response induced by double-stranded B-form DNA JOURNAL Nat Immunol 7 (1), 40-48 (2006) PUBMED 16286919 REMARK Erratum:[Nat Immunol. 2006 Apr;7(4):427] REFERENCE 8 (residues 1 to 926) AUTHORS Rothenfusser S, Goutagny N, DiPerna G, Gong M, Monks BG, Schoenemeyer A, Yamamoto M, Akira S and Fitzgerald KA. TITLE The RNA helicase Lgp2 inhibits TLR-independent sensing of viral replication by retinoic acid-inducible gene-I JOURNAL J Immunol 175 (8), 5260-5268 (2005) PUBMED 16210631 REMARK GeneRIF: Lgp2 acts as a negative feedback regulator of antiviral signaling by sequestering double-stranded RNA from retinoic acid-inducible gene-I (RIG-I). REFERENCE 9 (residues 1 to 926) AUTHORS Yoneyama M, Kikuchi M, Matsumoto K, Imaizumi T, Miyagishi M, Taira K, Foy E, Loo YM, Gale M Jr, Akira S, Yonehara S, Kato A and Fujita T. TITLE Shared and unique functions of the DExD/H-box helicases RIG-I, MDA5, and LGP2 in antiviral innate immunity JOURNAL J Immunol 175 (5), 2851-2858 (2005) PUBMED 16116171 REMARK GeneRIF: Shared and unique functions of the DExD/H-box helicases RIG-I, MDA5, and LGP2 in antiviral innate immunity. REFERENCE 10 (residues 1 to 926) AUTHORS Kato H, Sato S, Yoneyama M, Yamamoto M, Uematsu S, Matsui K, Tsujimura T, Takeda K, Fujita T, Takeuchi O and Akira S. TITLE Cell type-specific involvement of RIG-I in antiviral response JOURNAL Immunity 23 (1), 19-28 (2005) PUBMED 16039576 REMARK GeneRIF: RIG-I is essential for induction of type I interferons (IFNs) after infection with RNA viruses in fibroblasts and conventional dendritic cells (DCs). COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK087261.1, BC127163.1 and AK049305.1. On Jul 26, 2007 this sequence version replaced NP_766277.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK128929.1, AY553221.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..926 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 20.24 cM" Protein 1..926 /product="antiviral innate immune response receptor RIG-I" /EC_number="3.6.4.13" /note="probable ATP-dependent RNA helicase DDX58; DEAD/H box helicase 58; DEAD/H box polypeptide RIG-I; retinoic acid-inducible gene-I; RIG-1; retinoic acid-inducible gene 1 protein; retinoic acid-inducible gene I protein; RIG-I-like receptor 1; DEAD box protein 58; DEAD (Asp-Glu-Ala-Asp) box polypeptide 58" /calculated_mol_wt=105845 Region 2..92 /region_name="CARD_RIG-I_r1" /note="Caspase activation and recruitment domain found in RIG-I, first repeat; cd08816" /db_xref="CDD:260075" Site order(17..20,23..24,50..51,80..85) /site_type="other" /note="CARD2 interaction site" /db_xref="CDD:260075" Region 100..188 /region_name="CARD_RIG-I_r2" /note="Caspase activation and recruitment domain found in RIG-I, second repeat; cd08817" /db_xref="CDD:260076" Site order(101,104,132..135,157,161,163..164) /site_type="other" /note="CARD1 interface" /db_xref="CDD:260076" Site order(102,105..106,108..109,111..113,115..116,141, 145..147,149..150,153,181,184..185,187) /site_type="other" /note="helical insert domain interface" /db_xref="CDD:260076" Region 219..926 /region_name="Interaction with ZC3HAV1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q6Q899.2)" Region 242..807 /region_name="MPH1" /note="ERCC4-related helicase [Replication, recombination and repair]; COG1111" /db_xref="CDD:224036" Region 242..443 /region_name="DEXHc_RIG-I_DDX58" /note="DEXH-box helicase domain of RIG-I; cd18073" /db_xref="CDD:350831" Site order(242..245,248,266..273,373) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350831" Site order(299..302,326..327,348,350,354,380..383) /site_type="other" /note="nucleic acid binding site [nucleotide binding]" /db_xref="CDD:350831" Region 373..376 /region_name="DECH box" /note="propagated from UniProtKB/Swiss-Prot (Q6Q899.2)" Region 736..926 /region_name="Mediates interaction with RNF135. /evidence=ECO:0000250|UniProtKB:O95786" /note="propagated from UniProtKB/Swiss-Prot (Q6Q899.2)" Site 771 /site_type="phosphorylation" /note="Phosphothreonine, by CK2. /evidence=ECO:0000250|UniProtKB:O95786; propagated from UniProtKB/Swiss-Prot (Q6Q899.2)" Region 806..919 /region_name="RIG-I_C" /note="C-terminal domain of Retinoic acid-inducible gene (RIG)-I protein, a cytoplasmic viral RNA receptor; cd15805" /db_xref="CDD:276943" Site order(831,854,875..876,887..889,909) /site_type="other" /note="dsRNA binding site [nucleotide binding]" /db_xref="CDD:276943" Site 859 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:O95786; propagated from UniProtKB/Swiss-Prot (Q6Q899.2)" CDS 1..926 /gene="Rigi" /gene_synonym="6430573D20Rik; C330021E21; Ddx58; RIG-I; RLR-1" /coded_by="NM_172689.3:130..2910" /db_xref="CCDS:CCDS18043.1" /db_xref="GeneID:230073" /db_xref="MGI:MGI:2442858" ORIGIN 1 mtaeqrqnlq afrdyikkil dptyilsyms swledeevqy iqaeknnkgp meaaslflqy 61 llklqsegwf qafldalyha gycglceaie swdfqkiekl eehrlllrrl epefkatvdp 121 ndilselsec linqeceeir qirdtkgrma gaekmaecli rsdkenwpkv lqlalekdns 181 kfselwivdk gfkraeskad eddgaeassi qifiqeepec qnlsqnpgpp seassnnlhs 241 plkprnyqle lalpakkgkn tiicaptgcg ktfvsllice hhlkkfpcgq kgkvvffanq 301 ipvyeqqatv fsryferlgy niasisgats dsvsvqhiie dndiiiltpq ilvnnlnnga 361 ipslsvftlm ifdechntsk nhpynqimfr yldhklgesr dplpqvvglt asvgvgdakt 421 aeeamqhick lcaaldasvi atvrdnvael eqvvykpqki srkvasrtsn tfkciisqlm 481 keteklakdv seelgklfqi qnrefgtqky eqwivgvhka csvfqmadke eesrvckalf 541 lytshlrkyn daliisedaq mtdalnylka ffhdvreaaf detereltrr feekleelek 601 vsrdpsnenp klrdlylvlq eeyhlkpetk tilfvktral vdalkkwiee npalsflkpg 661 iltgrgrtnr atgmtlpaqk cvleafrasg dnniliatsv adegidiaec nlvilyeyvg 721 nvikmiqtrg rgrardskcf lltssadvie kekanmikek imnesilrlq twdemkfgkt 781 vhriqvnekl lrdsqhkpqp vpdkenkkll cgkcknfacy tadirvvets hytvlgdafk 841 erfvckphpk pkiydnfekk akifcakqnc shdwgifvry ktfeipviki esfvvedivs 901 gvqnrhskwk dfhferiqfd paemsv // LOCUS NP_001032254 673 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform b [Mus musculus]. ACCESSION NP_001032254 VERSION NP_001032254.1 DBSOURCE REFSEQ: accession NM_001037177.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 673) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 673) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 673) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 673) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 673) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 673) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 673) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 673) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 673) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 673) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887600.1 and AW049827.1. Transcript Variant: This variant (2, also known as IB-IIL-VIIa) lacks four 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887600.1, AF289078.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..673 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..673 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform b" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=71831 Region 400..574 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(423,426,428..429,431..433,481,522,524..525,539..540, 542,573) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 579..>618 /region_name="IPT" /note="Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor...; cl15674" /db_xref="CDD:449574" CDS 1..673 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001037177.2:175..2196" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS17113.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mdvpepqpdp dggdgpghep ggspqdeldf silfdydyln pieeepiahk aisspsglay 61 pddvldyglk pcnplaslsg eppgrfgepd sigfqnflsp vkpagasgps prieitpshe 121 lmqaggalrg rdaglspeqp alalagvaas prftlpvpgy egyreplcls passgssasf 181 isdtfspyts pcvspnnagp ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv 241 prpasrsssp gakrrhscae alvaplpaas pqrsrspspq psphvalqdd sipagyppta 301 gsavlmdaln tlatdspcgi pskiwktspd ptpvstapsk aglarhiypt veflgpceqe 361 errnsapesi llvpptwpkq lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp 421 hhrahyeteg srgavkaptg ghpvvqlhgy menkplglqi figtaderil kphafyqvhr 481 itgktvttts yekivgntkv leiplepknn mratidcagi lklrnadiel rkgetdigrk 541 ntrvrlvfrv hvpepsgriv slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil 601 tgqnftaesk vvfmekttgp agtcetrplp islisadrls pwlsrlqrnp pgsvfrcsvl 661 lpapgsslvl lal // LOCUS NP_001394503 464 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 1 [Mus musculus]. ACCESSION NP_001394503 VERSION NP_001394503.1 DBSOURCE REFSEQ: accession NM_001407574.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 464) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 464) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 464) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 464) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 464) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 464) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 464) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 464) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784649.398993.1, SRR14995048.637328.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..464 /product="mitogen-activated protein kinase 10 isoform 1" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=52387 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Region 405..464 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..464 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407574.1:514..1908" /note="isoform 1 is encoded by transcript variant 9" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccr // LOCUS NP_112544 227 aa linear ROD 09-OCT-2023 DEFINITION triggering receptor expressed on myeloid cells 2 isoform 1 precursor [Mus musculus]. ACCESSION NP_112544 NP_067385 NP_112543 VERSION NP_112544.1 DBSOURCE REFSEQ: accession NM_031254.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 227) AUTHORS Chen X, Zhao Y, Huang Y, Zhu K, Zeng F, Zhao J, Zhang H, Zhu X, Kettenmann H and Xiang X. TITLE TREM2 promotes glioma progression and angiogenesis mediated by microglia/brain macrophages JOURNAL Glia 71 (11), 2679-2695 (2023) PUBMED 37641212 REMARK GeneRIF: TREM2 promotes glioma progression and angiogenesis mediated by microglia/brain macrophages. REFERENCE 2 (residues 1 to 227) AUTHORS Das M, Mao W, Voskobiynyk Y, Necula D, Lew I, Petersen C, Zahn A, Yu GQ, Yu X, Smith N, Sayed FA, Gan L, Paz JT and Mucke L. TITLE Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models JOURNAL Neurobiol Dis 186, 106263 (2023) PUBMED 37591465 REMARK GeneRIF: Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models. REFERENCE 3 (residues 1 to 227) AUTHORS Zhong L, Sheng X, Wang W, Li Y, Zhuo R, Wang K, Zhang L, Hu DD, Hong Y, Chen L, Rao H, Li T, Chen M, Lin Z, Zhang YW, Wang X, Yan XX, Chen X, Bu G and Chen XF. TITLE TREM2 receptor protects against complement-mediated synaptic loss by binding to complement C1q during neurodegeneration JOURNAL Immunity 56 (8), 1794-1808 (2023) PUBMED 37442133 REMARK GeneRIF: TREM2 receptor protects against complement-mediated synaptic loss by binding to complement C1q during neurodegeneration. REFERENCE 4 (residues 1 to 227) AUTHORS Yoo Y, Neumayer G, Shibuya Y, Mader MM and Wernig M. TITLE A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease JOURNAL Cell Stem Cell 30 (8), 1043-1053 (2023) PUBMED 37541210 REMARK Erratum:[Cell Stem Cell. 2023 Oct 5;30(10):1392. PMID: 37802040] REFERENCE 5 (residues 1 to 227) AUTHORS Correale C, Genua M, Vetrano S, Mazzini E, Martinoli C, Spinelli A, Arena V, Peyrin-Biroulet L, Caprioli F, Passini N, Panina-Bordignon P, Repici A, Malesci A, Rutella S, Rescigno M and Danese S. TITLE Bacterial sensor triggering receptor expressed on myeloid cells-2 regulates the mucosal inflammatory response JOURNAL Gastroenterology 144 (2), 346-356 (2013) PUBMED 23108068 REFERENCE 6 (residues 1 to 227) AUTHORS Daws MR, Sullam PM, Niemi EC, Chen TT, Tchao NK and Seaman WE. TITLE Pattern recognition by TREM-2: binding of anionic ligands JOURNAL J Immunol 171 (2), 594-599 (2003) PUBMED 12847223 REMARK GeneRIF: TREM-2a and TREM-2b binding to both Gram-positive and Gram-negative bacteria is disrupted by anionic bacterial products or other anionic carbohydrates and suggests that TREM-2 recognizes pathogens via charged carbohydrates expressed on pathogen surface. REFERENCE 7 (residues 1 to 227) AUTHORS Schmid CD, Sautkulis LN, Danielson PE, Cooper J, Hasel KW, Hilbush BS, Sutcliffe JG and Carson MJ. TITLE Heterogeneous expression of the triggering receptor expressed on myeloid cells-2 on adult murine microglia JOURNAL J Neurochem 83 (6), 1309-1320 (2002) PUBMED 12472885 REFERENCE 8 (residues 1 to 227) AUTHORS Chung DH, Seaman WE and Daws MR. TITLE Characterization of TREM-3, an activating receptor on mouse macrophages: definition of a family of single Ig domain receptors on mouse chromosome 17 JOURNAL Eur J Immunol 32 (1), 59-66 (2002) PUBMED 11754004 REFERENCE 9 (residues 1 to 227) AUTHORS Daws MR, Lanier LL, Seaman WE and Ryan JC. TITLE Cloning and characterization of a novel mouse myeloid DAP12-associated receptor family JOURNAL Eur J Immunol 31 (3), 783-791 (2001) PUBMED 11241283 REFERENCE 10 (residues 1 to 227) AUTHORS Bouchon A, Dietrich J and Colonna M. TITLE Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes JOURNAL J Immunol 164 (10), 4991-4995 (2000) PUBMED 10799849 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC166164.2, AK039477.1 and BY541740.1. On or before Jun 13, 2003 this sequence version replaced NP_067385.1, NP_112543.1. Summary: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and functions as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein associates with the adaptor protein Dap-12 and recruits several factors, such as kinases and phospholipase C-gamma, to form a receptor signaling complex that activates myeloid cells, including dendritic cells and microglia. In humans homozygous loss-of-function mutations in this gene cause Nasu-Hakola disease and mutations in this gene may be risk factors to the development of Alzheimer's disease. In mouse mutations of this gene serve as a pathophysiological model for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola disease) and for inflammatory bowel disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (1) encodes isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052784.1, AK039477.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..227 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 23.99 cM" Protein 1..227 /product="triggering receptor expressed on myeloid cells 2 isoform 1 precursor" /note="triggering receptor expressed on myeloid cells 2b; triggering receptor expressed on myeloid cells 2c; triggering receptor expressed on myeloid cells 2a; triggering receptor expressed on monocytes 2" /calculated_mol_wt=22579 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1966 mat_peptide 19..227 /product="Triggering receptor expressed on myeloid cells 2. /id=PRO_0000014988" /note="propagated from UniProtKB/Swiss-Prot (Q99NH8.1)" /calculated_mol_wt=22579 Site 20 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q99NH8.1)" Region 21..128 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:448366" Region 32..36 /region_name="Ig strand B" /note="Ig strand B [structural motif]" /db_xref="CDD:409353" Region 47..51 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409353" Site 79 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:Q9NZC2; propagated from UniProtKB/Swiss-Prot (Q99NH8.1)" Region 93..97 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409353" Region 107..112 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409353" Region 123..126 /region_name="Ig strand G" /note="Ig strand G [structural motif]" /db_xref="CDD:409353" Site 157..158 /site_type="cleavage" /note="Cleavage of ectodomain. /evidence=ECO:0000269|PubMed:28855301; propagated from UniProtKB/Swiss-Prot (Q99NH8.1)" Site 172..192 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99NH8.1)" CDS 1..227 /gene="Trem2" /gene_synonym="TREM-2; Trem2a; Trem2b; Trem2c" /coded_by="NM_031254.3:156..839" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS28865.1" /db_xref="GeneID:83433" /db_xref="MGI:MGI:1913150" ORIGIN 1 mgplhqflll litalsqaln ttvlqgmagq slrvsctyda lkhwgrrkaw crqlgeegpc 61 qrvvsthgvw llaflkkrng stviaddtla gtvtitlknl qagdaglyqc qslrgreaev 121 lqkvlvevle dplddqdagd lwvpeesssf egaqvehsts rnqetsfppt sillllacvl 181 lskflaasil wavargrqkp gtpvvrgldc gqdaghqlqi ltgpggt // LOCUS NP_001372640 470 aa linear ROD 09-OCT-2023 DEFINITION bile acid receptor isoform 4 [Mus musculus]. ACCESSION NP_001372640 XP_006513456 VERSION NP_001372640.1 DBSOURCE REFSEQ: accession NM_001385711.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 470) AUTHORS Xu Z, Huang Z, Zhang Y, Sun H, Hinz U, Heger U, Loos M, Gonzalez FJ, Hackert T, Bergmann F and Fortunato F. TITLE Farnesoid X receptor activation inhibits pancreatic carcinogenesis JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (7), 166811 (2023) PUBMED 37515840 REFERENCE 2 (residues 1 to 470) AUTHORS Qiu Y, Kang N, Wang X, Yao Y, Cui J, Zhang X and Zheng L. TITLE Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice JOURNAL PeerJ 11, e16155 (2023) PUBMED 37790634 REMARK GeneRIF: Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 470) AUTHORS Dean AE, Jungwirth E, Panzitt K, Wagner M and Anakk S. TITLE Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes JOURNAL Hepatol Commun 7 (10), e0213 (2023) PUBMED 37695073 REMARK GeneRIF: Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 470) AUTHORS Li Z, Dong H, Bian S, Wu H, Song W, Jia X, Chen J, Zhu X, Zhao L, Xuan Z, Jin C, Zhou M, Zheng S and Song P. TITLE FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases JOURNAL Int J Mol Sci 24 (17), 13494 (2023) PUBMED 37686300 REMARK GeneRIF: FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases. Publication Status: Online-Only REFERENCE 5 (residues 1 to 470) AUTHORS Song X, Zhang H, Zhang Y, Goh B, Bao B, Mello SS, Sun X, Zheng W, Gazzaniga FS, Wu M, Qu F, Yin Q, Gilmore MS, Oh SF and Kasper DL. TITLE Gut microbial fatty acid isomerization modulates intraepithelial T cells JOURNAL Nature 619 (7971), 837-843 (2023) PUBMED 37380774 REFERENCE 6 (residues 1 to 470) AUTHORS Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL and Stoffel M. TITLE Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism JOURNAL Nat Genet 27 (4), 375-382 (2001) PUBMED 11279518 REFERENCE 7 (residues 1 to 470) AUTHORS Lammert F, Carey MC and Paigen B. TITLE Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map JOURNAL Gastroenterology 120 (1), 221-238 (2001) PUBMED 11208732 REMARK Review article REFERENCE 8 (residues 1 to 470) AUTHORS Sinal CJ, Tohkin M, Miyata M, Ward JM, Lambert G and Gonzalez FJ. TITLE Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis JOURNAL Cell 102 (6), 731-744 (2000) PUBMED 11030617 REFERENCE 9 (residues 1 to 470) AUTHORS Kozak CA, Adamson MC and Weinberger C. TITLE Genetic mapping of gene encoding the farnesoid receptor, Fxr, to mouse Chromosome 10 JOURNAL Mamm Genome 7 (2), 164-165 (1996) PUBMED 8835541 REFERENCE 10 (residues 1 to 470) AUTHORS Seol W, Choi HS and Moore DD. TITLE Isolation of proteins that interact specifically with the retinoid X receptor: two novel orphan receptors JOURNAL Mol Endocrinol 9 (1), 72-85 (1995) PUBMED 7760852 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC152417.3. On Jul 27, 2020 this sequence version replaced XP_006513456.1. Transcript Variant: This variant (4), alternatively referred to as alpha 2, differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189685.193135.1, SRR5189682.114321.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..470 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 44.98 cM" Protein 1..470 /product="bile acid receptor isoform 4" /note="bile acid receptor; farnesoid X activated receptor; RXR-interacting protein 14; retinoid X receptor-interacting protein 14; farnesol receptor HRR-1" /calculated_mol_wt=53856 Region 121..204 /region_name="NR_DBD_FXR" /note="DNA-binding domain of Farnesoid X receptor (FXR) family is composed of two C4-type zinc fingers; cd06962" /db_xref="CDD:143520" Site order(124,127,141,144,160,166,176,179) /site_type="other" /note="zinc binding site [ion binding]" /db_xref="CDD:143520" Site order(129..130,170..171,174) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:143520" Site order(133..136,142..143,145,147,149..150,173..175,177,180, 194) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:143520" Region 246..465 /region_name="NR_LBD_Fxr" /note="The ligand binding domain of Farnesoid X receptor:a member of the nuclear receptor superfamily of ligand-activated transcription factors; cd06936" /db_xref="CDD:132734" Site order(263,282,285..286,288..289,292,326..327,329..330,333, 445,459) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:132734" Site order(294,297,301,311..312,315,318..319,462,465) /site_type="other" /note="coactivator recognition site [polypeptide binding]" /db_xref="CDD:132734" Site order(373,392,399,403,426,429..430,433..434,436,439..440, 443..444) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:132734" CDS 1..470 /gene="Nr1h4" /gene_synonym="Fxr; HRR1; RIP14; Rxrip14" /coded_by="NM_001385711.1:270..1682" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:20186" /db_xref="MGI:MGI:1352464" ORIGIN 1 mnlighshlq atdefslses lfgmltehaa gplgqnldle syspynnvpf pqvqpqisss 61 syysnlgfyp qqpedwyspg iyelrrmpae tgyqgetevs empvtkkprm aaasagrikg 121 delcvvcgdr asgyhynalt cegckgffrr sitknavykc knggncvmdm ymrrkcqecr 181 lrkckemgml aecllteiqc kskrlrknvk qhadqtaned dsegrdlrqv tsttkfcrek 241 teltadqqtl ldyimdsynk qrmpqeitnk ilkeefsaee nfliltemat shvqilveft 301 kklpgfqtld hedqiallkg saveamflrs aeifnkklpa ghadlleeri rksgisdeyi 361 tpmfsfyksv gelkmtqeey alltaivils pdrqyikdre aveklqepll dvlqklckmy 421 qpenpqhfac llgrltelrt fnhhhaemlm swrvndhkft pllceiwdvq // LOCUS NP_997122 2101 aa linear ROD 09-OCT-2023 DEFINITION general transcription factor 3C polypeptide 1 [Mus musculus]. ACCESSION NP_997122 XP_133826 VERSION NP_997122.1 DBSOURCE REFSEQ: accession NM_207239.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2101) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 2101) AUTHORS Thompson CL, Ng L, Menon V, Martinez S, Lee CK, Glattfelder K, Sunkin SM, Henry A, Lau C, Dang C, Garcia-Lopez R, Martinez-Ferre A, Pombero A, Rubenstein JLR, Wakeman WB, Hohmann J, Dee N, Sodt AJ, Young R, Smith K, Nguyen TN, Kidney J, Kuan L, Jeromin A, Kaykas A, Miller J, Page D, Orta G, Bernard A, Riley Z, Smith S, Wohnoutka P, Hawrylycz MJ, Puelles L and Jones AR. TITLE A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain JOURNAL Neuron 83 (2), 309-323 (2014) PUBMED 24952961 REFERENCE 3 (residues 1 to 2101) AUTHORS Crepaldi L, Policarpi C, Coatti A, Sherlock WT, Jongbloets BC, Down TA and Riccio A. TITLE Binding of TFIIIC to sine elements controls the relocation of activity-dependent neuronal genes to transcription factories JOURNAL PLoS Genet 9 (8), e1003699 (2013) PUBMED 23966877 REFERENCE 4 (residues 1 to 2101) AUTHORS Wiese CB, Ireland S, Fleming NL, Yu J, Valerius MT, Georgas K, Chiu HS, Brennan J, Armstrong J, Little MH, McMahon AP and Southard-Smith EM. TITLE A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract JOURNAL Front Neurosci 6, 130 (2012) PUBMED 22988430 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 2101) AUTHORS Yokoyama S, Ito Y, Ueno-Kudoh H, Shimizu H, Uchibe K, Albini S, Mitsuoka K, Miyaki S, Kiso M, Nagai A, Hikata T, Osada T, Fukuda N, Yamashita S, Harada D, Mezzano V, Kasai M, Puri PL, Hayashizaki Y, Okado H, Hashimoto M and Asahara H. TITLE A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58 JOURNAL Dev Cell 17 (6), 836-848 (2009) PUBMED 20059953 REFERENCE 6 (residues 1 to 2101) AUTHORS de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA and Mourelatos Z. TITLE Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery JOURNAL Hum Mol Genet 18 (12), 2115-2126 (2009) PUBMED 19299493 REFERENCE 7 (residues 1 to 2101) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 8 (residues 1 to 2101) AUTHORS Meissner W, Thomae R and Seifart KH. TITLE The activity of transcription factor IIIC1 is impaired during differentiation of F9 cells JOURNAL J Biol Chem 277 (9), 7148-7156 (2002) PUBMED 11741993 REMARK GeneRIF: The partial purification of pol III transcription factors from PE and EC cells revealed that TFIIIC2 activity could be purified from both cell types, whereas TFIIIC1 activity was dramatically reduced in extracts from PE cells. REFERENCE 9 (residues 1 to 2101) AUTHORS Brady KP, Rowe LB, Her H, Stevens TJ, Eppig J, Sussman DJ, Sikela J and Beier DR. TITLE Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis JOURNAL Genome Res 7 (11), 1085-1093 (1997) PUBMED 9371744 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from BC067041.1. On Aug 30, 2004 this sequence version replaced XP_133826.5. ##Evidence-Data-START## Transcript exon combination :: BC067041.1, AK147325.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2101 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 69.01 cM" Protein 1..2101 /product="general transcription factor 3C polypeptide 1" /note="TFIIIC220; TF3C-alpha; TFIIIC 220 kDa subunit; TFIIIC box B-binding subunit; transcription factor IIIC subunit alpha; transcription factor IIIC 220 kDa subunit" /calculated_mol_wt=237346 Region 174..250 /region_name="B-block_TFIIIC" /note="B-block binding subunit of TFIIIC; pfam04182" /db_xref="CDD:367858" Region 473..574 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 588..609 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 611..707 /region_name="Tau138_eWH" /note="extended winged-helix domain of tau138 and related proteins; cd16169" /db_xref="CDD:320085" Site 667 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q12789; propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 718..772 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 820..864 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Site 1063 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q12789; propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 1186..1239 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Site 1196 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 1598..1627 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Region 1822..1923 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Site 1854 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q12789; propagated from UniProtKB/Swiss-Prot (Q8K284.2)" Site 1890 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8K284.2)" CDS 1..2101 /gene="Gtf3c1" /coded_by="NM_207239.1:12..6317" /db_xref="CCDS:CCDS40122.1" /db_xref="GeneID:233863" /db_xref="MGI:MGI:107887" ORIGIN 1 mdalesllde valegldglc lpalwsrles rspafplple pytqeflwra lathpgisfy 61 eeprerpdlq lqdryeeidl etgilesrrd pvtledvypi hmilenkdgi qgscryfker 121 kditssirsk clqprctmve afsrwgkkli ivasqdmryr aliglegdpd lklpdfsyci 181 lerlgrsrwq gelqrdlhtt afkvdagklh yhrkilnkng litmqshvir lptgaqqhsi 241 llllnrfhvd rrskydilme klsmmlstrs nqietlgklr eelglcertf krlyqymlna 301 glakvvslpl qeihpecgpc ktkkgtdvmv rclkllkefk rkmeddhddd ddeeviskgv 361 ppvdivferd mltqtyelie rrgtkgisqa eirvamnvgk learmlcrll qrfkvvkgfm 421 edegrqrttk yiscvfaees dlsrqyarek argellttvs lasvqdeslm pegeeaflsd 481 seseeesscs ggkrrgrgsr gharasgdag sgsrphhstp akggwkvlnl hplkkpkaaa 541 eersrrssac rdgldtssss elnapfdphs mdshsgdiav ieevrldnpk egggsqkggr 601 hgssqdkphk tyrllkrrnl iieavtnlrl ieslftiqkm imdqekqegv stkcckksii 661 rlvrnlseeg llrlyrttvi qdgikkkvdl vvhpsmdqnd plvrsaieqv rfrisnssta 721 nrvkvppapa pqeeaeeenq epevpsrsan sdpntsskpe strvkktdek mgitplknyk 781 pvivpglgrs igflpkmprl kamhlflwyl vyghpaghtg eqpalhserk tgkqessrpg 841 aqpssgddwd tseaknntes sswesemels teivyvdeis wmryvppipi hrdfgfgwal 901 vsdillclpl sifvqlvqvs ykvdnledfl ndplkkhtli rflprhirqq llykrryifs 961 vvenlqrlcy mgllqfgpte kfqdkdqvfv flkknavivd tticdphynl ahssrpferr 1021 lyvldsmqdv ecywfdlqci clntplgvvr cpcaqkicpd pgsdpegslr keqesamdkh 1081 nlerkcamle yttgsrevvd eglvpgdglg aagldssfya hlkrnwvwts yiinkarknn 1141 tsengltgrl qtflskrpmp lgsggsgrlp lwsegradae lcadkeeqfe ldreptpgrn 1201 rkvrggksqk rkrlkkepir ktkrrrrgeh peakskklry qdeadqnalr mmtrlrvsws 1261 mqedgllmlc riasnvlntk vkgpfvtwqv vrdilhatfe esldktshsv grraryivkn 1321 pqafmnykvc laevyqdkal vgdfmsrkgn yedpkvcake fkefveklke kfssglrnpn 1381 leipntlqel fakyrvlaig dekdrvrked elnsvedihf lvlqnliqst lslsnsqsns 1441 cqsfqifrly refrepvlvr afmecqkrsl vnrrrvshsq gpkknravpf vpmsyqlsqs 1501 yyklftwrfp ttictesfqf ydrlrtngml dqpdhfsfkd ldssdpsndl vafsldspgg 1561 hcvtalalfs lgllsvdvri peqivvvdss mvesevmksl gkdgglddde eeedldegsg 1621 tkrqgvevka hqashtkyll mrgyytvpgm vstrnlnpnd sivvnscqvk frlrntpast 1681 qlgptgftat pleelqagls clpasftslv dpqlrthcpe efahqmaqsg yspedvaasl 1741 eilqavaaad cfgidkekls rqfsalekia drrtrtfldy iqdlleqeqv mevggntvrl 1801 vtmasaqpwl lhsmrlrdme vdtkasgdds qsrlpegpsi edhtsegaav ppvsshstkk 1861 rphcpetdae eatrlpakkp tlqdvrvaas prpgaeeqae aqapaqlaap edadaggprq 1921 enqenvgvsg leqlgcefql pegsedprgl tesnmaqaaw esgcervcfv grpwrgvdgh 1981 lnmpvckgml eavlyhimsr pgvpescllq yyqgvlqpva vlellrgles lgciqkrtlr 2041 kpasvslfsr pvveglgqas eaealsches tvtfyeptld ctirlgrvfp hdinwnkwih 2101 l // LOCUS NP_034540 130 aa linear ROD 09-OCT-2023 DEFINITION hypocretin neuropeptide precursor precursor [Mus musculus]. ACCESSION NP_034540 VERSION NP_034540.1 DBSOURCE REFSEQ: accession NM_010410.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 130) AUTHORS Somach RT, Jean ID, Farrugia AM and Cohen AS. TITLE Mild Traumatic Brain Injury Affects Orexin/Hypocretin Physiology Differently in Male and Female Mice JOURNAL J Neurotrauma 40 (19-20), 2146-2163 (2023) PUBMED 37476962 REMARK GeneRIF: Mild Traumatic Brain Injury Affects Orexin/Hypocretin Physiology Differently in Male and Female Mice. REFERENCE 2 (residues 1 to 130) AUTHORS Hung C and Yamanaka A. TITLE The role of orexin neuron activity in sleep/wakefulness regulation JOURNAL Peptides 165, 171007 (2023) PUBMED 37030519 REMARK GeneRIF: The role of orexin neuron activity in sleep/wakefulness regulation. REFERENCE 3 (residues 1 to 130) AUTHORS Luo F, Deng JY, Sun X, Zhen J and Luo XD. TITLE Anterior cingulate cortex orexin signaling mediates early-life stress-induced social impairment in females JOURNAL Proc Natl Acad Sci U S A 120 (20), e2220353120 (2023) PUBMED 37155875 REMARK GeneRIF: Anterior cingulate cortex orexin signaling mediates early-life stress-induced social impairment in females. REFERENCE 4 (residues 1 to 130) AUTHORS Pintwala SK, Fraigne JJ, Belsham DD and Peever JH. TITLE Immortal orexin cell transplants restore motor-arousal synchrony during cataplexy JOURNAL Curr Biol 33 (8), 1550-1564 (2023) PUBMED 37044089 REFERENCE 5 (residues 1 to 130) AUTHORS Lu C, Zhang J, Wang B, Gao Q, Ma K, Pei S, Li J and Cui S. TITLE Casein kinase 1alpha is required to maintain murine hypothalamic pro-opiomelanocortin expression JOURNAL iScience 26 (5), 106670 (2023) PUBMED 37168577 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 130) AUTHORS Chemelli RM, Willie JT, Sinton CM, Elmquist JK, Scammell T, Lee C, Richardson JA, Williams SC, Xiong Y, Kisanuki Y, Fitch TE, Nakazato M, Hammer RE, Saper CB and Yanagisawa M. TITLE Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation JOURNAL Cell 98 (4), 437-451 (1999) PUBMED 10481909 REFERENCE 7 (residues 1 to 130) AUTHORS Siegel JM. TITLE Narcolepsy: a key role for hypocretins (orexins) JOURNAL Cell 98 (4), 409-412 (1999) PUBMED 10481905 REMARK Review article REFERENCE 8 (residues 1 to 130) AUTHORS Yamamoto Y, Ueta Y, Date Y, Nakazato M, Hara Y, Serino R, Nomura M, Shibuya I, Matsukura S and Yamashita H. TITLE Down regulation of the prepro-orexin gene expression in genetically obese mice JOURNAL Brain Res Mol Brain Res 65 (1), 14-22 (1999) PUBMED 10036303 REFERENCE 9 (residues 1 to 130) AUTHORS Sakurai T, Amemiya A, Ishii M, Matsuzaki I, Chemelli RM, Tanaka H, Williams SC, Richardson JA, Kozlowski GP, Wilson S, Arch JR, Buckingham RE, Haynes AC, Carr SA, Annan RS, McNulty DE, Liu WS, Terrett JA, Elshourbagy NA, Bergsma DJ and Yanagisawa M. TITLE Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior JOURNAL Cell 92 (4), 573-585 (1998) PUBMED 9491897 REFERENCE 10 (residues 1 to 130) AUTHORS de Lecea L, Kilduff TS, Peyron C, Gao X, Foye PE, Danielson PE, Fukuhara C, Battenberg EL, Gautvik VT, Bartlett FS 2nd, Frankel WN, van den Pol AN, Bloom FE, Gautvik KM and Sutcliffe JG. TITLE The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity JOURNAL Proc Natl Acad Sci U S A 95 (1), 322-327 (1998) PUBMED 9419374 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF019566.1. Summary: This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors Hcrtr1 and Hcrtr2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF019566.1, CD769124.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..130 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 63.6 cM" Protein 1..130 /product="hypocretin neuropeptide precursor precursor" /note="prepro-orexin; orexin A; orexin B; preprohypocretin; hypocretin neuropeptide" /calculated_mol_wt=10146 Region 1..129 /region_name="Orexin" /note="Prepro-orexin; pfam02072" /db_xref="CDD:426587" sig_peptide 1..32 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3375 mat_peptide 33..65 /product="Orexin-A. /id=PRO_0000020264" /note="propagated from UniProtKB/Swiss-Prot (O55241.1)" /calculated_mol_wt=3583 Site 33 /site_type="pyrrolidone-carboxylic-acid" /note="Pyrrolidone carboxylic acid. /evidence=ECO:0000250|UniProtKB:O55232; propagated from UniProtKB/Swiss-Prot (O55241.1)" Site 65 /site_type="amidation" /note="Leucine amide. /evidence=ECO:0000250|UniProtKB:O55232; propagated from UniProtKB/Swiss-Prot (O55241.1)" mat_peptide 69..96 /product="Orexin-B. /id=PRO_0000020265" /note="propagated from UniProtKB/Swiss-Prot (O55241.1)" /calculated_mol_wt=2937 Site 96 /site_type="amidation" /note="Methionine amide. /evidence=ECO:0000250|UniProtKB:O55232; propagated from UniProtKB/Swiss-Prot (O55241.1)" CDS 1..130 /gene="Hcrt" /gene_synonym="PPOX" /coded_by="NM_010410.2:91..483" /db_xref="CCDS:CCDS25436.1" /db_xref="GeneID:15171" /db_xref="MGI:MGI:1202306" ORIGIN 1 mnfpstkvpw aavtllllll lppallslgv daqplpdccr qktcscrlye llhgagnhaa 61 giltlgkrrp gppglqgrlq rllqangnha agiltmgrra gaelephpcs grgcptvttt 121 alaprggsgv // LOCUS NP_851839 736 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 1 [Mus musculus]. ACCESSION NP_851839 NP_031820 VERSION NP_851839.1 DBSOURCE REFSEQ: accession NM_181322.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 736) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 736) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 736) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 736) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 736) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 736) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 736) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 736) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 736) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 736) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. On Jan 18, 2008 this sequence version replaced NP_031820.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049131.1, U51037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..736 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..736 /product="transcriptional repressor CTCF isoform 1" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83615 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 573..686 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 699..726 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..736 /gene="Ctcf" /coded_by="NM_181322.4:327..2537" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS22606.1" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqptaii qvedqntgai eniivevkke pdaepaegee eeaqaattda 721 pngdltpemi lsmmdr // LOCUS NP_001278097 907 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform e [Mus musculus]. ACCESSION NP_001278097 XP_006498952 VERSION NP_001278097.1 DBSOURCE REFSEQ: accession NM_001291168.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 907) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 907) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 907) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 907) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 907) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 907) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 907) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 907) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 907) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 907) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887587.1, EU887585.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498952.1. Transcript Variant: This variant (5, also known as IA-IIL-deltaXa) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887587.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..907 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..907 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform e" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=97864 Region 380..554 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(403,406,408..409,411..413,461,502,504..505,519..520, 522,553) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 559..659 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(583,647) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..907 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291168.1:120..2843" /note="isoform e is encoded by transcript variant 5" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mqrpalrrpg prqplrtmgs adreepiahk aisspsglay pddvldyglk pcnplaslsg 61 eppgrfgepd sigfqnflsp vkpagasgps prieitpshe lmqaggalrg rdaglspeqp 121 alalagvaas prftlpvpgy egyreplcls passgssasf isdtfspyts pcvspnnagp 181 ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv prpasrsssp gakrrhscae 241 alvaplpaas pqrsrspspq psphvalqdd sipagyppta gsavlmdaln tlatdspcgi 301 pskiwktspd ptpvstapsk aglarhiypt veflgpceqe errnsapesi llvpptwpkq 361 lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp hhrahyeteg srgavkaptg 421 ghpvvqlhgy menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv 481 leiplepknn mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv 541 slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg 601 qqiwemeatv dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv 661 paiktepsde yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp 721 daryqqqspa aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst 781 lphtssasqq aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls 841 pgayptviqq qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtylddv neiirkefsg 901 ppsrnqt // LOCUS NP_001165676 590 aa linear ROD 09-OCT-2023 DEFINITION AT-rich interactive domain-containing protein 5A isoform 1 [Mus musculus]. ACCESSION NP_001165676 VERSION NP_001165676.1 DBSOURCE REFSEQ: accession NM_001172205.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 590) AUTHORS Li X, Hua S, Fang D, Fei X, Tan Z, Zheng F, Wang W and Fang M. TITLE RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice JOURNAL Clin Exp Med 23 (6), 2167-2179 (2023) PUBMED 36454447 REMARK GeneRIF: RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice. REFERENCE 2 (residues 1 to 590) AUTHORS Taylor TC, Li Y, Li DD, Majumder S, McGeachy MJ, Biswas PS, Gingras S and Gaffen SL. TITLE Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense JOURNAL J Immunol 209 (6), 1138-1145 (2022) PUBMED 35940634 REMARK GeneRIF: Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense. REFERENCE 3 (residues 1 to 590) AUTHORS Catela C, Chen Y, Weng Y, Wen K and Kratsios P. TITLE Control of spinal motor neuron terminal differentiation through sustained Hoxc8 gene activity JOURNAL Elife 11, e70766 (2022) PUBMED 35315772 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 590) AUTHORS Nyati KK, Hashimoto S, Singh SK, Tekguc M, Metwally H, Liu YC, Okuzaki D, Gemechu Y, Kang S and Kishimoto T. TITLE The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway JOURNAL Cancer Lett 520, 295-306 (2021) PUBMED 34389433 REMARK GeneRIF: The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway. REFERENCE 5 (residues 1 to 590) AUTHORS Chalise JP, Hashimoto S, Parajuli G, Kang S, Singh SK, Gemechu Y, Metwally H, Nyati KK, Dubey PK, Zaman MM, Nagahama Y, Hamza H, Masuda K and Kishimoto T. TITLE Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis JOURNAL Proc Natl Acad Sci U S A 116 (30), 15128-15133 (2019) PUBMED 31289228 REMARK GeneRIF: Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis. REFERENCE 6 (residues 1 to 590) AUTHORS Zaman MM, Masuda K, Nyati KK, Dubey PK, Ripley B, Wang K, Chalise JP, Higa M, Hanieh H and Kishimoto T. TITLE Arid5a exacerbates IFN-gamma-mediated septic shock by stabilizing T-bet mRNA JOURNAL Proc Natl Acad Sci U S A 113 (41), 11543-11548 (2016) PUBMED 27671645 REMARK GeneRIF: Arid5a deficiency resulted in decreased levels of IFN-gamma under Th1 cell conditions, in which T-box expressed in T cells (T-bet) mRNA expression was inhibited. REFERENCE 7 (residues 1 to 590) AUTHORS Masuda K, Ripley B, Nyati KK, Dubey PK, Zaman MM, Hanieh H, Higa M, Yamashita K, Standley DM, Mashima T, Katahira M, Okamoto T, Matsuura Y, Takeuchi O and Kishimoto T. TITLE Arid5a regulates naive CD4+ T cell fate through selective stabilization of Stat3 mRNA JOURNAL J Exp Med 213 (4), 605-619 (2016) PUBMED 27022145 REMARK GeneRIF: T cell-intrinsic role of Arid5a on fate decisions of naive CD4(+)T cells through selective stabilization of Stat3 mRNA. REFERENCE 8 (residues 1 to 590) AUTHORS Masuda K, Ripley B, Nishimura R, Mino T, Takeuchi O, Shioi G, Kiyonari H and Kishimoto T. TITLE Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo JOURNAL Proc Natl Acad Sci U S A 110 (23), 9409-9414 (2013) PUBMED 23676272 REMARK GeneRIF: Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo. REFERENCE 9 (residues 1 to 590) AUTHORS Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R and Yoneda T. TITLE Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription JOURNAL Mol Biol Cell 22 (8), 1300-1311 (2011) PUBMED 21346191 REMARK GeneRIF: AT-rich interactive domain-containing protein 5a (Arid5a) cooperates with Sox9 to stimulate chondrocyte-specific transcription. REFERENCE 10 (residues 1 to 590) AUTHORS Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E. TITLE Nomenclature of the ARID family of DNA-binding proteins JOURNAL Genomics 86 (2), 242-251 (2005) PUBMED 15922553 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY196834.1, AK149839.1 and AK029237.1. Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK156376.1, AK149839.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..590 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 15.2 cM" Protein 1..590 /product="AT-rich interactive domain-containing protein 5A isoform 1" /note="AT rich interactive domain 5A (Mrf1 like); modulator recognition factor I; AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like)" /calculated_mol_wt=63768 Region 1..294 /region_name="Interaction with SOX9. /evidence=ECO:0000269|PubMed:21346191" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Region 1..52 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Site 24 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Region 56..138 /region_name="ARID_ARID5A" /note="ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 5A (ARID5A) and similar proteins; cd16884" /db_xref="CDD:350648" Site order(73..79,104,106..107,110,121,123..125,127) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:350648" Region 141..229 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Site 253 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:28168301; propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Region 275..323 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Site 283 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Region 367..402 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Region 419..443 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Site 433 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:28168301; propagated from UniProtKB/Swiss-Prot (Q3U108.1)" Site 458 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:28168301; propagated from UniProtKB/Swiss-Prot (Q3U108.1)" CDS 1..590 /gene="Arid5a" /gene_synonym="D430024K22Rik; Mrf1" /coded_by="NM_001172205.1:101..1873" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS48239.1" /db_xref="GeneID:214855" /db_xref="MGI:MGI:2443039" ORIGIN 1 maappakgnt eqseegdlpq lpvspkpdde qsrsqsptql qdspeaggeq eeeqaflvsl 61 ykfmkerhtp iervphlgfk qinlwkiyka veklgayelv tgrrlwknvy delggspgst 121 saatctrrhy erlvlpyvrh lkgeddkplp ptkprkqykm akelrgddgt teklkkakds 181 eerrveqttp gktksdatgq tqlpcqgssr dsteqlgpvs gpsppltgas scpeaykrll 241 ssfyckgahg imsplakkkl laqvskaeal qcqeegcrhg arspnkdiqd spqnlrgpae 301 nsehqltpre glqapggstr meaqvgpcpt apmfsgcfha yptevlkpvs qhprdffsgl 361 kdrvllgppg keegpttkes hlvwggdanh psafhkgstr krsfypkpka cwvspmakvp 421 terpgapsph psspglgskr gleeegfahg gkklravspf lkevdsketg gkpaapglav 481 scllgptpgp tppeayrgtm lrcplnftgs adplkgqasl pfsplvipaf pahllattgs 541 spmaaslmhf pptpydavlr nrlgpassaw hmppvttyaa phffhlntkl // LOCUS NP_001394507 426 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 3 [Mus musculus]. ACCESSION NP_001394507 VERSION NP_001394507.1 DBSOURCE REFSEQ: accession NM_001407578.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 426) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 426) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 426) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 426) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 426) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 426) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 426) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 426) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 426) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 426) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.4887842.1, SRR10662773.1399596.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..426 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..426 /product="mitogen-activated protein kinase 10 isoform 3" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=47997 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..426 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407578.1:662..1942" /note="isoform 3 is encoded by transcript variant 13" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsg aavnsseslp psssvndiss mstdqtlasd tdssleasag 421 plgccr // LOCUS NP_033320 298 aa linear ROD 09-OCT-2023 DEFINITION syntaxin-4 isoform 1 [Mus musculus]. ACCESSION NP_033320 VERSION NP_033320.1 DBSOURCE REFSEQ: accession NM_009294.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 298) AUTHORS Tondeur EGM, Voerman JSA, Geleijnse MAA, van Hofwegen LS, van Krimpen A, Koerner J, Mishra G, Song Z and Schliehe C. TITLE Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro JOURNAL J Immunol 211 (8), 1203-1215 (2023) PUBMED 37638825 REMARK GeneRIF: Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro. REFERENCE 2 (residues 1 to 298) AUTHORS Black HL, Livingstone R, Mastick CC, Al Tobi M, Taylor H, Geiser A, Stirrat L, Kioumourtzoglou D, Petrie JR, Boyle JG, Bryant NJ and Gould GW. TITLE Knockout of syntaxin-4 in 3T3-L1 adipocytes reveals new insight into GLUT4 trafficking and adiponectin secretion JOURNAL J Cell Sci 135 (1) (2022) PUBMED 34859814 REMARK GeneRIF: Knockout of syntaxin-4 in 3T3-L1 adipocytes reveals new insight into GLUT4 trafficking and adiponectin secretion. REFERENCE 3 (residues 1 to 298) AUTHORS Merz KE, Hwang J, Zhou C, Veluthakal R, McCown EM, Hamilton A, Oh E, Dai W, Fueger PT, Jiang L, Huss JM and Thurmond DC. TITLE Enrichment of the exocytosis protein STX4 in skeletal muscle remediates peripheral insulin resistance and alters mitochondrial dynamics via Drp1 JOURNAL Nat Commun 13 (1), 424 (2022) PUBMED 35058456 REMARK GeneRIF: Enrichment of the exocytosis protein STX4 in skeletal muscle remediates peripheral insulin resistance and alters mitochondrial dynamics via Drp1. Publication Status: Online-Only REFERENCE 4 (residues 1 to 298) AUTHORS Oh E, McCown EM, Ahn M, Garcia PA, Branciamore S, Tang S, Zeng DF, Roep BO and Thurmond DC. TITLE Syntaxin 4 Enrichment in beta-Cells Prevents Conversion to Autoimmune Diabetes in Non-Obese Diabetic (NOD) Mice JOURNAL Diabetes 70 (12), 2837-2849 (2021) PUBMED 34556496 REMARK GeneRIF: Syntaxin 4 Enrichment in beta-Cells Prevents Conversion to Autoimmune Diabetes in Non-Obese Diabetic (NOD) Mice. REFERENCE 5 (residues 1 to 298) AUTHORS Sanchez E, Gonzalez EA, Moreno DS, Cardenas RA, Ramos MA, Davalos AJ, Manllo J, Rodarte AI, Petrova Y, Moreira DC, Chavez MA, Tortoriello A, Lara A, Gutierrez BA, Burns AR, Heidelberger R and Adachi R. TITLE Syntaxin 3, but not syntaxin 4, is required for mast cell-regulated exocytosis, where it plays a primary role mediating compound exocytosis JOURNAL J Biol Chem 294 (9), 3012-3023 (2019) PUBMED 30563839 REMARK GeneRIF: the residual exocytic function of Stx3-deficient MCs was sufficient to drive a full anaphylactic response in mice REFERENCE 6 (residues 1 to 298) AUTHORS Lehtonen S, Riento K, Olkkonen VM and Lehtonen E. TITLE Syntaxin 3 and Munc-18-2 in epithelial cells during kidney development JOURNAL Kidney Int 56 (3), 815-826 (1999) PUBMED 10469351 REFERENCE 7 (residues 1 to 298) AUTHORS Min J, Okada S, Kanzaki M, Elmendorf JS, Coker KJ, Ceresa BP, Syu LJ, Noda Y, Saltiel AR and Pessin JE. TITLE Synip: a novel insulin-regulated syntaxin 4-binding protein mediating GLUT4 translocation in adipocytes JOURNAL Mol Cell 3 (6), 751-760 (1999) PUBMED 10394363 REMARK Erratum:[Mol Cell 1999 Jul;4(1):following 142] REFERENCE 8 (residues 1 to 298) AUTHORS Gerst JE. TITLE SNAREs and SNARE regulators in membrane fusion and exocytosis JOURNAL Cell Mol Life Sci 55 (5), 707-734 (1999) PUBMED 10379359 REMARK Review article REFERENCE 9 (residues 1 to 298) AUTHORS Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW and James DE. TITLE Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4 JOURNAL J Biol Chem 272 (10), 6179-6186 (1997) PUBMED 9045631 REFERENCE 10 (residues 1 to 298) AUTHORS Katagiri H, Terasaki J, Murata T, Ishihara H, Ogihara T, Inukai K, Fukushima Y, Anai M, Kikuchi M, Miyazaki J et al. TITLE A novel isoform of syntaxin-binding protein homologous to yeast Sec1 expressed ubiquitously in mammalian cells JOURNAL J Biol Chem 270 (10), 4963-4966 (1995) PUBMED 7890599 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC149222.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011491.1, AK145909.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..298 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 69.77 cM" Protein 1..298 /product="syntaxin-4 isoform 1" /note="syntaxin-4" /calculated_mol_wt=34034 Site 15 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70452.1)" Site 29 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P70452.1)" Site 36 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q12846; propagated from UniProtKB/Swiss-Prot (P70452.1)" Region 39..189 /region_name="SynN" /note="Syntaxin N-terminus domain; syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane; they are a family of receptors for intracellular transport vesicles; each target membrane may...; cd00179" /db_xref="CDD:238105" Site order(42,49,121..122,125..126,129,132..133,139,142,174) /site_type="active" /note="nSec1 interaction sites [active]" /db_xref="CDD:238105" Site order(69,80,83..84,91,95,98,105,127,132,135,141,148..149, 152..153,155..156,159,186) /site_type="active" /note="interdomain interaction site [active]" /db_xref="CDD:238105" Site 117 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70452.1)" Region 154..298 /region_name="Interaction with CENPF. /evidence=ECO:0000269|PubMed:18827011" /note="propagated from UniProtKB/Swiss-Prot (P70452.1)" Site order(166..176,185..189) /site_type="active" /note="linker region [active]" /db_xref="CDD:238105" Region 199..260 /region_name="SNARE" /note="SNARE motif; cl22856" /db_xref="CDD:451431" Site 208 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P70452.1)" Site order(231,238,241) /site_type="other" /note="flanking leucine-zipper layers" /db_xref="CDD:277192" Site 234 /site_type="active" /note="zero layer [active]" /db_xref="CDD:277192" Region 236..287 /region_name="SNARE" /note="SNARE domain; pfam05739" /db_xref="CDD:428611" Site 248 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P70452.1)" Site 275..295 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P70452.1)" Site 290 /site_type="other" /note="Required for neurite tip localization. /evidence=ECO:0000250|UniProtKB:Q08850; propagated from UniProtKB/Swiss-Prot (P70452.1)" CDS 1..298 /gene="Stx4a" /gene_synonym="Stx4; Syn-4; Syn4" /coded_by="NM_009294.4:276..1172" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS21880.1" /db_xref="GeneID:20909" /db_xref="MGI:MGI:893577" ORIGIN 1 mrdrthelrq gdnisddede vrvalvvhsg aarlgspdde ffqkvqtirq tmakleskvr 61 elekqqvtil atplpeesmk qglqnlreei kqlgrevraq lkaiepqkee adenynsvnt 121 rmkktqhgvl sqqfvelink cnsmqseyre knverirrql kitnagmvsd eeleqmldsg 181 qsevfvsnil kdtqvtrqal neisarhsei qqlersirel heiftflate vemqgeminr 241 ieknilssad yvergqehvk ialenqkkar kkkvmiaicv svtvlilavi igititvg // LOCUS NP_001349226 505 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 21 [Mus musculus]. ACCESSION NP_001349226 XP_006525575 VERSION NP_001349226.1 DBSOURCE REFSEQ: accession NM_001362297.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 505) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 505) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 505) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 505) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 505) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 505) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 505) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 505) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 505) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 505) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_006525575.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.63569.1, SRR1660819.73300.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..505 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..505 /product="CUGBP Elav-like family member 4 isoform 21" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53913 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 416..494 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..505 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362297.1:531..2048" /note="isoform 21 is encoded by transcript variant 27" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgnvissk vfvdratnqs kcfgfvsfdn pasaqtaiqa 481 mngfqigmkr lkvqlkrpkd anrpy // LOCUS NP_032196 1464 aa linear ROD 09-OCT-2023 DEFINITION glutamate receptor ionotropic, NMDA 2A precursor [Mus musculus]. ACCESSION NP_032196 XP_006521857 XP_358759 VERSION NP_032196.2 DBSOURCE REFSEQ: accession NM_008170.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1464) AUTHORS Su T, Lu Y, Fu C, Geng Y and Chen Y. TITLE GluN2A mediates ketamine-induced rapid antidepressant-like responses JOURNAL Nat Neurosci 26 (10), 1751-1761 (2023) PUBMED 37709995 REMARK GeneRIF: GluN2A mediates ketamine-induced rapid antidepressant-like responses. REFERENCE 2 (residues 1 to 1464) AUTHORS Camp CR, Vlachos A, Klockner C, Krey I, Banke TG, Shariatzadeh N, Ruggiero SM, Galer P, Park KL, Caccavano A, Kimmel S, Yuan X, Yuan H, Helbig I, Benke TA, Lemke JR, Pelkey KA, McBain CJ and Traynelis SF. TITLE Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons JOURNAL Commun Biol 6 (1), 952 (2023) PUBMED 37723282 REMARK GeneRIF: Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1464) AUTHORS Herzog LE, Wang L, Yu E, Choi S, Farsi Z, Song BJ, Pan JQ and Sheng M. TITLE Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients JOURNAL Transl Psychiatry 13 (1), 92 (2023) PUBMED 36914641 REMARK GeneRIF: Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1464) AUTHORS Wischhof L, Lee HM, Tutas J, Overkott C, Tedt E, Stork M, Peitz M, Brustle O, Ulas T, Handler K, Schultze JL, Ehninger D, Nicotera P, Salomoni P and Bano D. TITLE BCL7A-containing SWI/SNF/BAF complexes modulate mitochondrial bioenergetics during neural progenitor differentiation JOURNAL EMBO J 41 (23), e110595 (2022) PUBMED 36305367 REFERENCE 5 (residues 1 to 1464) AUTHORS Haddow K, Kind PC and Hardingham GE. TITLE NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease JOURNAL Int J Mol Sci 23 (19), 11392 (2022) PUBMED 36232696 REMARK GeneRIF: NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease. Review article Publication Status: Online-Only REFERENCE 6 (residues 1 to 1464) AUTHORS Watanabe M, Mishina M and Inoue Y. TITLE Differential distributions of the NMDA receptor channel subunit mRNAs in the mouse retina JOURNAL Brain Res 634 (2), 328-332 (1994) PUBMED 7510577 REFERENCE 7 (residues 1 to 1464) AUTHORS Watanabe M, Inoue Y, Sakimura K and Mishina M. TITLE Developmental changes in distribution of NMDA receptor channel subunit mRNAs JOURNAL Neuroreport 3 (12), 1138-1140 (1992) PUBMED 1493227 REFERENCE 8 (residues 1 to 1464) AUTHORS Ikeda K, Nagasawa M, Mori H, Araki K, Sakimura K, Watanabe M, Inoue Y and Mishina M. TITLE Cloning and expression of the epsilon 4 subunit of the NMDA receptor channel JOURNAL FEBS Lett 313 (1), 34-38 (1992) PUBMED 1385220 REFERENCE 9 (residues 1 to 1464) AUTHORS Kutsuwada T, Kashiwabuchi N, Mori H, Sakimura K, Kushiya E, Araki K, Meguro H, Masaki H, Kumanishi T, Arakawa M et al. TITLE Molecular diversity of the NMDA receptor channel JOURNAL Nature 358 (6381), 36-41 (1992) PUBMED 1377365 REFERENCE 10 (residues 1 to 1464) AUTHORS Meguro H, Mori H, Araki K, Kushiya E, Kutsuwada T, Yamazaki M, Kumanishi T, Arakawa M, Sakimura K and Mishina M. TITLE Functional characterization of a heteromeric NMDA receptor channel expressed from cloned cDNAs JOURNAL Nature 357 (6373), 70-74 (1992) PUBMED 1374164 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC164163.2, AC154190.2, AC121974.3 and AC126022.4. On or before Apr 18, 2018 this sequence version replaced XP_006521857.1, XP_358759.2, NP_032196.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219381.176123.1, ERR3363660.655756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="16" /map="16 5.28 cM" Protein 1..1464 /product="glutamate receptor ionotropic, NMDA 2A precursor" /note="glutamate [NMDA] receptor subunit epsilon-1; N-methyl D-aspartate receptor subtype 2A; glutamate receptor ionotropic, NMDA 2A" /calculated_mol_wt=162521 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2919 Region 32..387 /region_name="PBP1_iGluR_NMDA_NR2" /note="N-terminal leucine-isoleucine-valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family; cd06378" /db_xref="CDD:380601" Site order(32,78..80,115,136,176,178,193,208..209,310..311) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:380601" Site order(76..81,83..84,119..120,176,180,207,209,310..316, 320..322,333) /site_type="other" /note="heterodimer interface [polypeptide binding]" /db_xref="CDD:380601" Region 403..802 /region_name="PBP2_iGluR_NMDA_Nr2" /note="The ligand-binding domain of the NR2 subunit of ionotropic NMDA (N-methyl-D-aspartate) glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily; cd13718" /db_xref="CDD:270436" Site order(511..514,516,518..520,666,688..689,693,731,756..758, 761,767,783..786,789) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:270436" Site order(511..513,518,688..690,730..731) /site_type="other" /note="peptide binding site [polypeptide binding]" /db_xref="CDD:270436" Region 839..1464 /region_name="NMDAR2_C" /note="N-methyl D-aspartate receptor 2B3 C-terminus; pfam10565" /db_xref="CDD:431361" CDS 1..1464 /gene="Grin2a" /gene_synonym="GluN2A; GluRepsilon1; NMDAR2A; NR2A" /coded_by="NM_008170.4:1201..5595" /db_xref="CCDS:CCDS27943.1" /db_xref="GeneID:14811" /db_xref="MGI:MGI:95820" ORIGIN 1 mgrlgywtll vlpallvwhg paqnaaaekg tpalniavll ghshdvtere lrnlwgpeqa 61 tglpldvnvv allmnrtdpk slithvcdlm sgarihglvf gddtdqeava qmldfissqt 121 fipilgihgg asmimadkdp tstffqfgas iqqqatvmlk imqdydwhvf slvttifpgy 181 rdfisfiktt vdnsfvgwdm qnvitldtsf edaktqvqlk kihssvilly cskdeavlil 241 searslgltg ydffwivpsl vsgntelipk efpsglisvs yddwdyslea rvrdglgilt 301 taassmlekf syipeakasc ygqtekpetp lhtlhqfmvn vtwdgkdlsf teegyqvhpr 361 lvvivlnkdr ewekvgkwen qtlslrhavw pryksfsdce pddnhlsivt leeapfvive 421 didpltetcv rntvpcrkfv kinnstnegm nvkkcckgfc idilkklsrt vkftydlylv 481 tngkhgkkvn nvwngmigev vyqravmavg sltineerse vvdfsvpfve tgisvmvsrs 541 ngtvspsafl epfsasvwvm mfvmllivsa iavfvfeyfs pvgynrnlak gkaphgpsft 601 igkaiwllwg lvfnnsvpvq npkgttskim vsvwaffavi flasytanla afmiqeefvd 661 qvtglsdkkf qrphdysppf rfgtvpngst ernirnnypy mhqymtkfnq rgvedalvsl 721 ktgkldafiy daavlnykag rdegcklvti gsgyifattg ygialqkgsp wkrqidlall 781 qfvgdgemee letlwltgic hneknevmss qldidnmagv fymlaaamal slitfiwehl 841 fywklrfcft gvcsdrpgll fsisrgiysc ihgvhieekk kspdfnltgs qsnmlkllrs 901 aknisnmsnm nssrmdspkr aadfiqrgsl ivdmvsdkgn liysdnrsfq gkdsifgenm 961 nelqtfvanr hkdslsnyvf qgqhpltlne snpntvevav steskgnsrp rqlwkksmes 1021 lrqdslnqnp vsqrdektae nrthslkspr ylpeevahsd isetssratc hrepdnnknh 1081 ktkdnfkrsm askypkdcse vertyvktka ssprdkiyti dgekepsfhl dppqfieniv 1141 lpenvdfpdt yqdhnenfrk gdstlpmnrn plhnedglpn ndqyklyakh ftlkdkgsph 1201 segsdryrqn sthcrsclsn lptysghftm rspfkcdacl rmgnlydide dqmlqetgnp 1261 atreeayqqd wsqnnalqfq knklkinrqh sydnildkpr eidlsrpsrs islkdrerll 1321 egnlygslfs vpsskllgnk sslfpqgled skrsksllpd htsdnpflht ygddqrlvig 1381 rcpsdpykhs lpsqavndsy lrsslrstas ycsrdsrghs dvyisehvmp yaanknnmys 1441 tprvlnscsn rrvykkmpsi esdv // LOCUS NP_001349265 446 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 54 [Mus musculus]. ACCESSION NP_001349265 XP_017173290 VERSION NP_001349265.1 DBSOURCE REFSEQ: accession NM_001362336.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 446) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 446) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 446) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 446) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 446) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 446) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 446) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 446) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 446) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 446) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173290.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219381.60563.1, SRR9219382.92318.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..446 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..446 /product="CUGBP Elav-like family member 4 isoform 54" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=47396 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 56..442 /region_name="ELAV_HUD_SF" /note="ELAV/HuD family splicing factor; TIGR01661" /db_xref="CDD:273741" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" CDS 1..446 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362336.1:531..1871" /note="isoform 54 is encoded by transcript variant 55" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregfvsfd npasaqtaiq 421 amngfqigmk rlkvqlkrpk danrpy // LOCUS NP_001002011 665 aa linear ROD 09-OCT-2023 DEFINITION prelamin-A/C isoform A precursor [Mus musculus]. ACCESSION NP_001002011 VERSION NP_001002011.2 DBSOURCE REFSEQ: accession NM_001002011.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 665) AUTHORS Kim JR, Kim PH, Presnell A, Tu Y and Young SG. TITLE Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice JOURNAL Nucleus 14 (1), 2262308 (2023) PUBMED 37754663 REMARK GeneRIF: Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice. REFERENCE 2 (residues 1 to 665) AUTHORS Chang L, Huang R, Chen J, Li G, Shi G, Xu B and Wang L. TITLE An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration JOURNAL BMC Med Genomics 16 (1), 229 (2023) PUBMED 37784143 REMARK GeneRIF: An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration. Publication Status: Online-Only REFERENCE 3 (residues 1 to 665) AUTHORS Pruvost M, Patzig J, Yattah C, Selcen I, Hernandez M, Park HJ, Moyon S, Liu S, Morioka MS, Shopland L, Al-Dalahmah O, Bendl J, Fullard JF, Roussos P, Goldman J, He Y, Dupree JL and Casaccia P. TITLE The stability of the myelinating oligodendrocyte transcriptome is regulated by the nuclear lamina JOURNAL Cell Rep 42 (8), 112848 (2023) PUBMED 37515770 REFERENCE 4 (residues 1 to 665) AUTHORS Jahn D, Schramm S, Benavente R and Alsheimer M. TITLE Dynamic properties of meiosis-specific lamin C2 and its impact on nuclear envelope integrity JOURNAL Nucleus 1 (3), 273-283 (2010) PUBMED 21327075 REMARK GeneRIF: lamin C2 as a 'natural lamin deletion mutant' that confers unique properties to the nuclear envelope which would be essential for dynamic telomere repositioning during meiotic prophase I REFERENCE 5 (residues 1 to 665) AUTHORS Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bhat N, Nagashima K, Stewart CL and Burke B. TITLE Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy JOURNAL J Cell Biol 147 (5), 913-920 (1999) PUBMED 10579712 REFERENCE 6 (residues 1 to 665) AUTHORS Eggert M, Radomski N, Tripier D, Traub P and Jost E. TITLE Identification of phosphorylation sites on murine nuclear lamin C by RP-HPLC and microsequencing JOURNAL FEBS Lett 292 (1-2), 205-209 (1991) PUBMED 1959608 REFERENCE 7 (residues 1 to 665) AUTHORS Weber K, Plessmann U and Traub P. TITLE Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina JOURNAL FEBS Lett 257 (2), 411-414 (1989) PUBMED 2583287 REFERENCE 8 (residues 1 to 665) AUTHORS Riedel W and Werner D. TITLE Nucleotide sequence of the full-length mouse lamin C cDNA and its deduced amino-acid sequence JOURNAL Biochim Biophys Acta 1008 (1), 119-122 (1989) PUBMED 2719959 REFERENCE 9 (residues 1 to 665) AUTHORS Rober RA, Weber K and Osborn M. TITLE Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study JOURNAL Development 105 (2), 365-378 (1989) PUBMED 2680424 REFERENCE 10 (residues 1 to 665) AUTHORS Houliston E, Guilly MN, Courvalin JC and Maro B. TITLE Expression of nuclear lamins during mouse preimplantation development JOURNAL Development 102 (2), 271-278 (1988) PUBMED 3046911 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC145168.5, AK147150.1, AK004619.2 and AW047412.1. On Dec 11, 2007 this sequence version replaced NP_001002011.1. Summary: This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK004619.2, AK147150.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..665 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 38.84 cM" Protein 1..665 /product="prelamin-A/C isoform A precursor" /note="prelamin-A/C; lamin-A/C; lamin C" /calculated_mol_wt=74107 mat_peptide 1..662 /product="Prelamin-A/C. /id=PRO_0000398837" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" /calculated_mol_wt=73906 mat_peptide 1..647 /product="Lamin-A/C. /id=PRO_0000063811" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" /calculated_mol_wt=72347 Region 1..130 /region_name="Interaction with MLIP. /evidence=ECO:0000250|UniProtKB:P02545" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 1..33 /region_name="Head" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 1..25 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 3 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 12 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 18 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 19 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 22 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 30..386 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:425436" Site 32 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 34..70 /region_name="Coil 1A" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 51 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 66 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 71..80 /region_name="Linker 1" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 71 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 81..218 /region_name="Coil 1B" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 107 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 108 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 123 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 135 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 155 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 171 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 201 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 212 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 219..242 /region_name="Linker 2" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 243..383 /region_name="Coil 2" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 260 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 266 /site_type="other" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 270 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 277 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 301 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 307 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 311 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 325 /site_type="other" /note="Stutter. /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 330 /site_type="other" /note="Heptad change of phase; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 384..665 /region_name="Tail" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 384..442 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 390 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 392 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; Phosphoserine, by CDK1. /evidence=ECO:0000269|PubMed:1959608, ECO:0007744|PubMed:19131326, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 395 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 398 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 403 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 404 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 407 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 409 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:1959608; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 414 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 417..422 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 429 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 431 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 434..541 /region_name="LTD" /note="Lamin Tail Domain; pfam00932" /db_xref="CDD:425951" Site 450 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 457 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 458 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 460 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 463 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 496 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 500 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 505 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 510 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P48679; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 533 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 546 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 548 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Region 553..577 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 570 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 572 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 573 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 613 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 614 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 617 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 620 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 629 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 633 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 637 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 647..648 /site_type="cleavage" /note="Cleavage, by endoprotease. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 653 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P48678.2)" Site 662 /site_type="methylation" /note="Cysteine methyl ester. /evidence=ECO:0000250|UniProtKB:P02545; propagated from UniProtKB/Swiss-Prot (P48678.2)" CDS 1..665 /gene="Lmna" /gene_synonym="Dhe" /coded_by="NM_001002011.3:250..2247" /note="isoform A precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS38482.1" /db_xref="GeneID:16905" /db_xref="MGI:MGI:96794" ORIGIN 1 metpsqrrat rsgaqasstp lsptritrlq ekedlqelnd rlavyidrvr sletenaglr 61 lriteseevv srevsgikaa yeaelgdark tldsvakera rlqlelskvr eefkelkarn 121 tkkegdllaa qarlkdleal lnskeaalst alsekrtleg elhdlrgqva kleaalgeak 181 kqlqdemlrr vdaenrlqtl keeldfqkni yseelretkr rhetrlveid ngkqrefesr 241 ladalqelra qhedqveqyk kelektysak ldnarqsaer nsnlvgaahe elqqsririd 301 slsaqlsqlq kqlaakeakl rdledslare rdtsrrllae keremaemra rmqqqldeyq 361 elldiklald meihayrkll egeeerlrls psptsqrsrg rasshssqsq gggsvtkkrk 421 lessesrssf sqhartsgrv aveevdeegk fvrlrnksne dqsmgnwqir rqngddplmt 481 yrfppkftlk agqvvtiwas gagathsppt dlvwkaqntw gcgsslrtal instgeevam 541 rklvrsltmv ednedddedg eellhhhrgs hcsgsgdpae ynlrsrtvlc gtcgqpadka 601 aggagaqvgg sissgssass vtvtrsfrsv ggsgggsfgd nlvtrsyllg nssprsqssq 661 ncsim // LOCUS NP_001349256 475 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 45 [Mus musculus]. ACCESSION NP_001349256 XP_017173287 VERSION NP_001349256.1 DBSOURCE REFSEQ: accession NM_001362327.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 475) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 475) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 475) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 475) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 475) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 475) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 475) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 475) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 475) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 475) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173287.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR6116558.125402.1, SRR1660813.160546.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..475 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..475 /product="CUGBP Elav-like family member 4 isoform 45" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50718 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 141..221 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(143,145,147..148,151,170,172,174,182..184,186,216, 218) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 406..464 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..475 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362327.1:531..1958" /note="isoform 45 is encoded by transcript variant 47" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrge drklfvgmln kqqseddvrr lfeafgniee ctilrgpdgn 181 skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr mqqmagqmgm 241 fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma alnmnglaaa 301 pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan gihpypaqsp 361 taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc nlliyhlpqe 421 fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd anrpy // LOCUS NP_001409072 822 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 6 [Mus musculus]. ACCESSION NP_001409072 XP_017170450 VERSION NP_001409072.1 DBSOURCE REFSEQ: accession NM_001422143.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 822) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 822) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 822) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 822) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 822) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 822) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 822) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 822) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 822) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 822) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Jun 6, 2023 this sequence version replaced XP_017170450.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219381.212955.1, SRR9219380.13661.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..822 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..822 /product="hypoxia-inducible factor 1-alpha isoform 6" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=91744 Region 1..401 /region_name="Interaction with TSGA10. /evidence=ECO:0000269|PubMed:16777103" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 1..30 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 13..83 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(18..19,21..23,26..27,29..30,55..56) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Region 21..30 /region_name="DNA-binding. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site order(32..33,35..36,39..40,43..44,55..57,60..61,64,67..68, 71) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 93..148 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 170..191 /region_name="Required for heterodimer formation with ARNT. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 247 /site_type="phosphorylation" /note="Phosphoserine, by CK1. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 254..339 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(255,259,265,278..281,307,312) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(275,279,287,290..291,319,321) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 380..417 /region_name="N-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 402 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 492..511 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 530..574 /region_name="NTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 531 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 550..579 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:431874" Site 550 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 554 /site_type="phosphorylation" /note="Phosphothreonine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 555..571 /region_name="C-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 563 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 575..781 /region_name="ID" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 575 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 579..670 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 588 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 654 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 693..720 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 705 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 714..717 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 782..822 /region_name="CTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 785..821 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:430212" Site 799 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" CDS 1..822 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_001422143.1:290..2758" /note="isoform 6 is encoded by transcript variant 6" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 megaggenek kkmsserrke ksrdaarsrr skesevfyel ahqlplphnv sshldkasvm 61 rltisylrvr klldagglds edemkaqmdc fylkaldgfv mvltddgdmv yisdnvnkym 121 gltqfeltgh svfdfthpcd heemremlth rngpvrkgke lntqrsfflr mkctltsrgr 181 tmniksatwk vlhctghihv ydtnsnqpqc gykkppmtcl vlicepiphp snieipldsk 241 tflsrhsldm kfsycderit elmgyepeel lgrsiyeyyh aldsdhltkt hhdmftkgqv 301 ttgqyrmlak rggyvwvetq atviyntkns qpqcivcvny vvsgiiqhdl ifslqqtesv 361 lkpvessdmk mtqlftkves edtsclfdkl kkepdaltll apaagdtiis ldfgsddtet 421 edqqledvpl yndvmfpssn eklninlams plpssetpkp lrssadpaln qevalkless 481 peslglsftm pqiqdqpasp sdgstrqssp epnspseycf dvdsdmvnvf klelveklfa 541 edteaknpfs tqdtdldlem lapyipmddd fqlrsfdqls plesnspspp smstvtgfqq 601 tqlqkptita tatttattde sktetkdnke dikiliasps stqvpqettt akasaysgth 661 srtaspdrag krvieqtdka hprslnlsat lnqrntvpee elnpktiasq naqrkrkmeh 721 dgslfqaagi gtllqqpgdc aptmslswkr vkgfisseqn gteqktiili psdlacrllg 781 qsmdesglpq ltsydcevna piqgsrnllq geellraldq vn // LOCUS NP_001263341 2266 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform f precursor [Mus musculus]. ACCESSION NP_001263341 VERSION NP_001263341.1 DBSOURCE REFSEQ: accession NM_001276412.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2266) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2266) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2266) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2266) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2266) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2266) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2266) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2266) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2266) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2266) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, AK147639.1, AK147315.1 and AC124821.5. Transcript Variant: This variant (6) lacks an in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (f) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK147639.1, SRR17253014.2205874.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164142 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2266 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2266 /product="fibronectin isoform f precursor" /calculated_mol_wt=246774 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1722..1802 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1799..1800,1802..1803) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1814..1893 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1890..1891,1893..1894) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1903..1983 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1999..2054 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2085..2129 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2130..2171 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2173..2212 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2266 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276412.1:253..7053" /note="isoform f precursor is encoded by transcript variant 6" /db_xref="CCDS:CCDS78610.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtn idrpkglaft dvdvdsikia wespqgqvsr yrvtyssped girelfpapd 1681 geddtaelqg lrpgseytvs vvalhddmes qpligiqsta ipaptnlkfs qvtptsftaq 1741 wiapsvqltg yrvrvnpkek tgpmkeinls pdsssvivsg lmvatkyevs vyalkdtlts 1801 rpaqgvittl envspprrar vtdatettit iswrtkteti tgfqvdaipa ngqtpvqrsi 1861 spdvrsytit glqpgtdyki hlytlndnar sspviidast aidapsnlrf ltttpnsllv 1921 swqaprarit gyiikyekpg spprevvprp rpgvteatit glepgteyti yvialknnqk 1981 sepligrkkt gqealsqtti swtpfqesse yiiscqpvgt deeplqfqvp gtstsatltg 2041 ltrgvtynii vealqnqrrh kvreevvtvg navseglnqp tddscfdpyt vshyaigeew 2101 erlsdagfkl tcqclgfgsg hfrcdsskwc hdngvnykig ekwdrqgeng qrmsctclgn 2161 gkgefkcdph eatcyddgkt yhvgeqwqke ylgaicsctc fggqrgwrcd ncrrpgaaep 2221 spdgttghty nqytqrynqr tntnvncpie cfmpldvqad rddsre // LOCUS NP_001276391 750 aa linear ROD 09-OCT-2023 DEFINITION neprilysin [Mus musculus]. ACCESSION NP_001276391 XP_006501160 VERSION NP_001276391.1 DBSOURCE REFSEQ: accession NM_001289462.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 750) AUTHORS Esser N, Mongovin SM, Mundinger TO, Barrow BM and Zraika S. TITLE Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice JOURNAL Peptides 168, 171076 (2023) PUBMED 37572792 REMARK GeneRIF: Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice. REFERENCE 2 (residues 1 to 750) AUTHORS Esser N, Mundinger TO, Barrow BM and Zraika S. TITLE Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice JOURNAL Endocrinology 164 (5) (2023) PUBMED 36964914 REMARK GeneRIF: Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice. REFERENCE 3 (residues 1 to 750) AUTHORS Ortiz C, Klein S, Reul WH, Magdaleno F, Groschl S, Dietrich P, Schierwagen R, Uschner FE, Torres S, Hieber C, Meier C, Kraus N, Tyc O, Brol M, Zeuzem S, Welsch C, Poglitsch M, Hellerbrand C, Alfonso-Prieto M, Mira F, Keller UAD, Tetzner A, Moore A, Walther T and Trebicka J. TITLE Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1 JOURNAL Cell Rep 42 (2), 112059 (2023) PUBMED 36729833 REMARK GeneRIF: Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1. REFERENCE 4 (residues 1 to 750) AUTHORS Chen Y and Burnett JC Jr. TITLE Biochemistry, Therapeutics, and Biomarker Implications of Neprilysin in Cardiorenal Disease JOURNAL Clin Chem 63 (1), 108-115 (2017) PUBMED 28062615 REMARK Review article REFERENCE 5 (residues 1 to 750) AUTHORS Bayes-Genis A, Barallat J and Richards AM. TITLE A Test in Context: Neprilysin: Function, Inhibition, and Biomarker JOURNAL J Am Coll Cardiol 68 (6), 639-653 (2016) PUBMED 27491909 REMARK Review article REFERENCE 6 (residues 1 to 750) AUTHORS Turner AJ and Nalivaeva NN. TITLE Proteinase dysbalance in pathology: the neprilysin (NEP) and angiotensin-converting enzyme (ACE) families JOURNAL Cell Mol Biol (Noisy-le-grand) 52 (4), 40-48 (2006) PUBMED 17543197 REMARK Review article Publication Status: Online-Only REFERENCE 7 (residues 1 to 750) AUTHORS Weil M, Itin A and Keshet E. TITLE A role for mesenchyme-derived tachykinins in tooth and mammary gland morphogenesis JOURNAL Development 121 (8), 2419-2428 (1995) PUBMED 7545574 REFERENCE 8 (residues 1 to 750) AUTHORS Kalled SL, Siva N, Stein H and Reinherz EL. TITLE The distribution of CD10 (NEP 24.11, CALLA) in humans and mice is similar in non-lymphoid organs but differs within the hematopoietic system: absence on murine T and B lymphoid progenitors JOURNAL Eur J Immunol 25 (3), 677-687 (1995) PUBMED 7705396 REFERENCE 9 (residues 1 to 750) AUTHORS Watson ML, Rao JK, Gilkeson GS, Ruiz P, Eicher EM, Pisetsky DS, Matsuzawa A, Rochelle JM and Seldin MF. TITLE Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci JOURNAL J Exp Med 176 (6), 1645-1656 (1992) PUBMED 1460423 REFERENCE 10 (residues 1 to 750) AUTHORS Chen CY, Salles G, Seldin MF, Kister AE, Reinherz EL and Shipp MA. TITLE Murine common acute lymphoblastic leukemia antigen (CD10 neutral endopeptidase 24.11). Molecular characterization, chromosomal localization, and modeling of the active site JOURNAL J Immunol 148 (9), 2817-2825 (1992) PUBMED 1374101 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY145991.1, AK076908.1, AK031446.1 and AC121840.3. On Jan 22, 2014 this sequence version replaced XP_006501160.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK076908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..750 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 29.97 cM" Protein 1..750 /product="neprilysin" /EC_number="3.4.24.11" /note="common acute lymphoblastic leukemia antigen; enkephalinase; atriopeptidase; neutral endopeptidase 24.11; skin fibroblast elastase" /calculated_mol_wt=85571 Site 4 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 6 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 16..23 /region_name="Stop-transfer sequence. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 29..51 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 77..748 /region_name="M13" /note="Peptidase family M13 includes neprilysin and endothelin-converting enzyme I; cd08662" /db_xref="CDD:341056" Site order(107,537,542..545,564,580..581,584..585,588,647,690, 693..694,711..712,718) /site_type="active" /db_xref="CDD:341056" Site 145 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 211 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 285 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 325 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 628 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" CDS 1..750 /gene="Mme" /gene_synonym="6030454K05Rik; CALLA; CD10; NEP; SFE" /coded_by="NM_001289462.1:455..2707" /db_xref="CCDS:CCDS17381.1" /db_xref="GeneID:17380" /db_xref="MGI:MGI:97004" ORIGIN 1 mgrsesqmdi tdinapkpkk kqrwtpleis lsvlvlllti iavtmialya tyddgickss 61 dciksaarli qnmdasvepc tdffkyacgg wlkrnvipet ssrysnfdil rdelevilkd 121 vlqepktedi vavqkaktly rscinesaid srggqpllkl lpdiygwpva sdnwdqtygt 181 swtaeksiaq lnskygkkvl inffvgtddk nstqhiihfd qprlglpsrd yyectgiyke 241 actayvdfmi svarlirqeq slpidenqls lemnkvmele keianattkp edrndpmlly 301 nkmtlaklqn nfslevngks fswsnftnei mstvniniqn eeevvvyape yltklkpilt 361 kysprdlqnl mswrfimdlv sslsrnykes rnafrkalyg ttsetatwrr canyvngnme 421 navgrlyvea afageskhvv edliaqirev fiqtlddltw mdaetkkkae ekalaikeri 481 gypddiisne nklnneylel nyredeyfen iiqnlkfsqs kqlkklrekv dkdewisgaa 541 vvnafyssgr nqivfpagil qppffsaqqs nslnyggigm vigheithgf ddngrnfnkd 601 gdlvdwwtqq sannfkdqsq cmvyqygnfs wdlaggqhln gintlgenia dnggigqayr 661 ayqnyvkkng eekllpgldl nhkqlfflnf aqvwcgtyrp eyavnsiktd vhspgnfrii 721 gtlqnsaefa dafhcrknsy mnperkcrvw // LOCUS NP_001263338 2361 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform c precursor [Mus musculus]. ACCESSION NP_001263338 VERSION NP_001263338.1 DBSOURCE REFSEQ: accession NM_001276409.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2361) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2361) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2361) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2361) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2361) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2361) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2361) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2361) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2361) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2361) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, AK147315.1 and AC124821.5. Transcript Variant: This variant (3) lacks an in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK147315.1, SRR17253011.3494721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164142 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2361 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2361 /product="fibronectin isoform c precursor" /calculated_mol_wt=257350 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1722..1802 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1799..1800,1802..1803) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1814..1893 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1890..1891,1893..1894) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1903..1983 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 2094..2149 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2180..2224 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2225..2266 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2268..2307 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2361 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276409.1:253..7338" /note="isoform c precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS78611.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtn idrpkglaft dvdvdsikia wespqgqvsr yrvtyssped girelfpapd 1681 geddtaelqg lrpgseytvs vvalhddmes qpligiqsta ipaptnlkfs qvtptsftaq 1741 wiapsvqltg yrvrvnpkek tgpmkeinls pdsssvivsg lmvatkyevs vyalkdtlts 1801 rpaqgvittl envspprrar vtdatettit iswrtkteti tgfqvdaipa ngqtpvqrsi 1861 spdvrsytit glqpgtdyki hlytlndnar sspviidast aidapsnlrf ltttpnsllv 1921 swqaprarit gyiikyekpg spprevvprp rpgvteatit glepgteyti yvialknnqk 1981 sepligrkkt vqktpfitnp gydtengiql pgtthqqpsv gqqmifeehg frrttpptaa 2041 tpvrlrprpy lpnvdeevqi ghvprgdvdy hlyphvpgln pnastgqeal sqttiswtpf 2101 qesseyiisc qpvgtdeepl qfqvpgtsts atltgltrgv tyniivealq nqrrhkvree 2161 vvtvgnavse glnqptddsc fdpytvshya igeewerlsd agfkltcqcl gfgsghfrcd 2221 sskwchdngv nykigekwdr qgengqrmsc tclgngkgef kcdpheatcy ddgktyhvge 2281 qwqkeylgai csctcfggqr gwrcdncrrp gaaepspdgt tghtynqytq rynqrtntnv 2341 ncpiecfmpl dvqadrddsr e // LOCUS NP_001192242 755 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 1 isoform 1 [Mus musculus]. ACCESSION NP_001192242 VERSION NP_001192242.1 DBSOURCE REFSEQ: accession NM_001205313.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 755) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 755) AUTHORS Clark DN, O'Neil SM, Xu L, Steppe JT, Savage JT, Raghunathan K and Filiano AJ. TITLE Prolonged STAT1 activation in neurons drives a pathological transcriptional response JOURNAL J Neuroimmunol 382, 578168 (2023) PUBMED 37556887 REMARK GeneRIF: Prolonged STAT1 activation in neurons drives a pathological transcriptional response. REFERENCE 3 (residues 1 to 755) AUTHORS Imitola J, Hollingsworth EW, Watanabe F, Olah M, Elyaman W, Starossom S, Kivisakk P and Khoury SJ. TITLE Stat1 is an inducible transcriptional repressor of neural stem cells self-renewal program during neuroinflammation JOURNAL Front Cell Neurosci 17, 1156802 (2023) PUBMED 37663126 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 755) AUTHORS Han W, Pu H, Li S, Liu Y, Zhao Y, Xu M, Chen C, Wu Y, Yang T, Ye Q, Wang H, Stetler RA, Chen J and Shi Y. TITLE Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke JOURNAL J Neuroinflammation 20 (1), 178 (2023) PUBMED 37516843 REMARK GeneRIF: Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke. Publication Status: Online-Only REFERENCE 5 (residues 1 to 755) AUTHORS Largent AD, Lambert K, Chiang K, Shumlak N, Liggitt D, Oukka M, Torgerson TR, Buckner JH, Allenspach EJ, Rawlings DJ and Jackson SW. TITLE Dysregulated IFN-gamma signals promote autoimmunity in STAT1 gain-of-function syndrome JOURNAL Sci Transl Med 15 (703), eade7028 (2023) PUBMED 37406138 REFERENCE 6 (residues 1 to 755) AUTHORS Novak U, Harpur AG, Paradiso L, Kanagasundaram V, Jaworowski A, Wilks AF and Hamilton JA. TITLE Colony-stimulating factor 1-induced STAT1 and STAT3 activation is accompanied by phosphorylation of Tyk2 in macrophages and Tyk2 and JAK1 in fibroblasts JOURNAL Blood 86 (8), 2948-2956 (1995) PUBMED 7579387 REFERENCE 7 (residues 1 to 755) AUTHORS Finidori J and Kelly PA. TITLE Cytokine receptor signalling through two novel families of transducer molecules: Janus kinases, and signal transducers and activators of transcription JOURNAL J Endocrinol 147 (1), 11-23 (1995) PUBMED 7490523 REMARK Review article REFERENCE 8 (residues 1 to 755) AUTHORS Harroch S, Gothelf Y, Revel M and Chebath J. TITLE 5' upstream sequences of MyD88, an IL-6 primary response gene in M1 cells: detection of functional IRF-1 and Stat factors binding sites JOURNAL Nucleic Acids Res 23 (17), 3539-3546 (1995) PUBMED 7567467 REFERENCE 9 (residues 1 to 755) AUTHORS Matsuda T and Hirano T. TITLE Association of p72 tyrosine kinase with Stat factors and its activation by interleukin-3, interleukin-6, and granulocyte colony-stimulating factor JOURNAL Blood 83 (12), 3457-3461 (1994) PUBMED 7515712 REFERENCE 10 (residues 1 to 755) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK046517.1, AC123752.8, BC042551.1 and BX513160.1. Transcript Variant: This variant (1) encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK046517.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164133 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..755 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.81 cM" Protein 1..755 /product="signal transducer and activator of transcription 1 isoform 1" /calculated_mol_wt=87902 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Region 138..313 /region_name="STAT1_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16851" /db_xref="CDD:341076" Site order(164..165,168..169,172,175..176,179,232,236,239..241, 243..244,256..257,259..260,263..264,267,271,274,306, 309..311) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:341076" Site order(239..241,243..244,256..257,260,263..264,267,271,274, 302,306,309..310) /site_type="other" /note="CCD-DBD interface [polypeptide binding]" /db_xref="CDD:341076" Region 317..483 /region_name="STAT1_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16845" /db_xref="CDD:341083" Site order(336,340,378,411,413,426..427,465..466,469) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341083" Region 563..713 /region_name="SH2_STAT1" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins; cd10372" /db_xref="CDD:198235" Site order(590,608,636,638) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site order(637,653) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site order(647..648,712) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198235" Region 721..745 /region_name="STAT1_TAZ2bind" /note="STAT1 TAZ2 binding domain; pfam12162" /db_xref="CDD:432372" CDS 1..755 /gene="Stat1" /gene_synonym="2010005J02Rik" /coded_by="NM_001205313.1:300..2567" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS78581.1" /db_xref="GeneID:20846" /db_xref="MGI:MGI:103063" ORIGIN 1 msqwfelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaaydv sfatirfhdl 61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpvq msmiiynclk eerkilenaq 121 rfnqaqegni qntvmldkqk eldskvrnvk dqvmcieqei ktleelqdey dfkcktsqnr 181 egeangvaks dqkqeqlllh kmflmldnkr keiihkirel lnsieltqnt lindelvewk 241 rrqqsacigg ppnacldqlq swftivaetl qqirqqlkkl eeleqkftye pdpitknkqv 301 lsdrtfllfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv 361 kvsfdkdvne kntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagnrtn 421 egplivteel hslsfetqlc qpglvidlev fvpfqttslp vvvisnvsql psgwasilwy 481 nmlvteprnl sfflnppcaw wsqlsevlsw qfssvtkrgl nadqlsmlge kllgpnagpd 541 glipwtrfck enindknfsf wpwidtilel ikkhllclwn dgcimgfisk ererallkdq 601 qpgtfllrfs essregaitf twversqngg epdfhavepy tkkelsavtf pdiirnykvm 661 aaenipenpl kylypnidkd hafgkyysrp keapepmeld dpkrtgyikt elisvsevhp 721 srlqttdnll pmspeefdem srivgpefds mmstv // LOCUS NP_001368856 657 aa linear ROD 09-OCT-2023 DEFINITION broad substrate specificity ATP-binding cassette transporter ABCG2 [Mus musculus]. ACCESSION NP_001368856 XP_006506211 VERSION NP_001368856.1 DBSOURCE REFSEQ: accession NM_001381927.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 657) AUTHORS Notsu T, Kurata Y, Ninomiya H, Taufiq F, Komatsu K, Miake J, Sawano T, Tsuneto M, Shirayoshi Y and Hisatome I. TITLE Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells JOURNAL Hypertens Res 46 (10), 2368-2377 (2023) PUBMED 37592041 REMARK GeneRIF: Inhibition of the uric acid efflux transporter ABCG2 enhances stimulating effect of soluble uric acid on IL-1beta production in murine macrophage-like J774.1 cells. REFERENCE 2 (residues 1 to 657) AUTHORS Harby SA, Khalil NA, El-Sayed NS, Thabet EH, Saleh SR and Fathelbab MH. TITLE Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine JOURNAL Naunyn Schmiedebergs Arch Pharmacol 396 (10), 2627-2636 (2023) PUBMED 37067582 REMARK GeneRIF: Implications of BCRP modulation on PTZ-induced seizures in mice: Role of ko143 and metformin as adjuvants to lamotrigine. REFERENCE 3 (residues 1 to 657) AUTHORS Blanco-Paniagua E, Alvarez-Fernandez L, Rodriguez-Alonso A, Millan-Garcia A, Alvarez AI and Merino G. TITLE Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin JOURNAL Antimicrob Agents Chemother 67 (5), e0009523 (2023) PUBMED 37078871 REMARK GeneRIF: Role of the Abcg2 Transporter in Secretion into Milk of the Anthelmintic Clorsulon: Interaction with Ivermectin. REFERENCE 4 (residues 1 to 657) AUTHORS Wu C, Xiao Y, Wu C, Xie D, Luo M, Yao D, Chen M and Lu D. TITLE Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha JOURNAL Xenobiotica 53 (3), 215-222 (2023) PUBMED 37039301 REMARK GeneRIF: Regulation of BCRP expression and sulfasalazine pharmacokinetics by the nuclear receptor REV-ERBalpha. REFERENCE 5 (residues 1 to 657) AUTHORS Alvarez-Fernandez L, Gomez-Gomez A, Haro N, Garcia-Lino AM, Alvarez AI, Pozo OJ and Merino G. TITLE ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites JOURNAL J Pineal Res 74 (2), e12849 (2023) PUBMED 36562106 REMARK GeneRIF: ABCG2 transporter plays a key role in the biodistribution of melatonin and its main metabolites. REFERENCE 6 (residues 1 to 657) AUTHORS Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF and Kornblum HI. TITLE A genetic analysis of neural progenitor differentiation JOURNAL Neuron 29 (2), 325-339 (2001) PUBMED 11239426 REFERENCE 7 (residues 1 to 657) AUTHORS Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH and Schinkel AH. TITLE Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan JOURNAL J Natl Cancer Inst 92 (20), 1651-1656 (2000) PUBMED 11036110 REFERENCE 8 (residues 1 to 657) AUTHORS Schriml LM and Dean M. TITLE Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus JOURNAL Genomics 64 (1), 24-31 (2000) PUBMED 10708515 REFERENCE 9 (residues 1 to 657) AUTHORS Allen JD, Brinkhuis RF, Wijnholds J and Schinkel AH. TITLE The mouse Bcrp1/Mxr/Abcp gene: amplification and overexpression in cell lines selected for resistance to topotecan, mitoxantrone, or doxorubicin JOURNAL Cancer Res 59 (17), 4237-4241 (1999) PUBMED 10485464 REFERENCE 10 (residues 1 to 657) AUTHORS Allikmets R, Schriml LM, Hutchinson A, Romano-Spica V and Dean M. TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance JOURNAL Cancer Res 58 (23), 5337-5339 (1998) PUBMED 9850061 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121859.2. On Apr 20, 2020 this sequence version replaced XP_006506211.1. Summary: The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189679.67132.1, SRR5189682.105299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..657 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 27.82 cM" Protein 1..657 /product="broad substrate specificity ATP-binding cassette transporter ABCG2" /EC_number="7.6.2.2" /note="mitoxantrone resistance protein 1; ATP-binding cassette sub-family G member 2; breast cancer resistance protein 1 homolog; urate exporter; ATP-binding cassette, sub-family G (WHITE), member 2" /calculated_mol_wt=72891 Region 1..24 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Region 46..651 /region_name="3a01204" /note="The Eye Pigment Precursor Transporter (EPP) Family protein; TIGR00955" /db_xref="CDD:273361" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 429..449 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 478..498 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 507..527 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 536..556 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 596 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" Site 633..653 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7TMS5.1)" CDS 1..657 /gene="Abcg2" /gene_synonym="ABC15; ABCP; BCRP; Bcrp1; MXR; MXR1" /coded_by="NM_001381927.1:102..2075" /db_xref="GeneID:26357" /db_xref="MGI:MGI:1347061" ORIGIN 1 msssndhvlv pmsqrnnngl prmnsravrt laegdvlsfh hityrvkvks gflvrktvek 61 eilsdingim kpglnailgp tgggksslld vlaarkdpkg lsgdvlinga pqpahfkccs 121 gyvvqddvvm gtltvrenlq fsaalrlptt mknhekneri ntiikelgle kvadskvgtq 181 firgisgger krtsigmeli tdpsilflde pttgldssta navllllkrm skqgrtiifs 241 ihqprysifk lfdsltllas gklvfhgpaq kaleyfasag yhcepynnpa dffldvingd 301 ssavmlnree qdneanktee pskgekpvie nlsefyinsa iygetkaeld qlpgaqekkg 361 tsafkepvyv tsfchqlrwi arrsfknllg npqasvaqli vtvilgliig aiyfdlkyda 421 agmqnragvl fflttnqcfs svsavelfvv ekklfiheyi sgyyrvssyf fgkvmsdllp 481 mrflpsvift cilyfmlglk ktvdaffimm ftlimvayta ssmalaiatg qsvvsvatll 541 mtiafvfmml fsgllvnlrt igpwlswlqy fsiprygfta lqyneflgqe fcpgfnvtdn 601 stcvnsyaic tgneylinqg ielspwglwk nhvalacmii ifltiaylkl lflkkys // LOCUS NP_035068 503 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform a [Mus musculus]. ACCESSION NP_035068 VERSION NP_035068.3 DBSOURCE REFSEQ: accession NM_010938.5 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 503) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 503) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 503) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 503) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 503) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 503) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 503) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 15, 2009 this sequence version replaced NP_035068.2. Transcript Variant: This variant (6) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 6, 9, and 10 all encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7974084.23908.1, SRR13422597.361757.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..503 /product="nuclear respiratory factor 1 isoform a" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=53440 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 301..476 /region_name="Required for transcriptional activation. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..502 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..503 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_010938.5:271..1782" /note="isoform a is encoded by transcript variant 6" /db_xref="CCDS:CCDS19968.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lvqipvsmyq tvvtslaqgn gpvqvamapv 481 ttrisdsavt mdgqavevvt leq // LOCUS NP_001077405 591 aa linear ROD 09-OCT-2023 DEFINITION parathyroid hormone/parathyroid hormone-related peptide receptor precursor [Mus musculus]. ACCESSION NP_001077405 VERSION NP_001077405.1 DBSOURCE REFSEQ: accession NM_001083936.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 591) AUTHORS Amano K, Kitaoka Y, Kato S, Fujiwara M, Okuzaki D, Aikawa T, Kogo M and Iida S. TITLE Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis JOURNAL J Dent Res 102 (11), 1241-1251 (2023) PUBMED 37575041 REMARK GeneRIF: Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis. REFERENCE 2 (residues 1 to 591) AUTHORS Liu H, Wada A, Le I, Le PT, Lee AWF, Zhou J, Gori F, Baron R and Rosen CJ. TITLE PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner JOURNAL Elife 12, e83345 (2023) PUBMED 37159501 REMARK GeneRIF: PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner. Publication Status: Online-Only REFERENCE 3 (residues 1 to 591) AUTHORS Chu TL, Chen P, Yu AX, Kong M, Tan Z, Tsang KY, Zhou Z and Cheah KSE. TITLE MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism JOURNAL Elife 12, e82142 (2023) PUBMED 36892459 REMARK GeneRIF: MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism. Publication Status: Online-Only REFERENCE 4 (residues 1 to 591) AUTHORS Wang F, Rummukainen P, Pehkonen M, Saamanen AM, Heino TJ and Kiviranta R. TITLE Mesenchymal cell-derived Wnt1 signaling regulates subchondral bone remodeling but has no effects on the development of growth plate or articular cartilage in mice JOURNAL Bone 163, 116497 (2022) PUBMED 35863746 REFERENCE 5 (residues 1 to 591) AUTHORS Kimura T, Panaroni C, Rankin EB, Purton LE and Wu JY. TITLE Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow JOURNAL J Bone Miner Res 37 (7), 1321-1334 (2022) PUBMED 35490308 REMARK GeneRIF: Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow. REFERENCE 6 (residues 1 to 591) AUTHORS McCuaig KA, Lee HS, Clarke JC, Assar H, Horsford J and White JH. TITLE Parathyroid hormone/parathyroid hormone related peptide receptor gene transcripts are expressed from tissue-specific and ubiquitous promoters JOURNAL Nucleic Acids Res 23 (11), 1948-1955 (1995) PUBMED 7596823 REMARK Erratum:[Nucleic Acids Res 1995 Aug 11;23(15):3082] REFERENCE 7 (residues 1 to 591) AUTHORS Karperien M, van Dijk TB, Hoeijmakers T, Cremers F, Abou-Samra AB, Boonstra J, de Laat SW and Defize LH. TITLE Expression pattern of parathyroid hormone/parathyroid hormone related peptide receptor mRNA in mouse postimplantation embryos indicates involvement in multiple developmental processes JOURNAL Mech Dev 47 (1), 29-42 (1994) PUBMED 7524627 REFERENCE 8 (residues 1 to 591) AUTHORS Kong XF, Schipani E, Lanske B, Joun H, Karperien M, Defize LH, Juppner H, Potts JT Jr, Segre GV, Kronenberg HM et al. TITLE The rat, mouse and human genes encoding the receptor for parathyroid hormone and parathyroid hormone-related peptide are highly homologous JOURNAL Biochem Biophys Res Commun 200 (3), 1290-1299 (1994) PUBMED 8185578 REMARK Erratum:[Biochem Biophys Res Commun. 1994 Jun 15;201(2):1058. PMID: 8002976] REFERENCE 9 (residues 1 to 591) AUTHORS Pausova Z, Bourdon J, Clayton D, Mattei MG, Seldin MF, Janicic N, Riviere M, Szpirer J, Levan G, Szpirer C et al. TITLE Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes JOURNAL Genomics 20 (1), 20-26 (1994) PUBMED 8020952 REFERENCE 10 (residues 1 to 591) AUTHORS Seldin MF, Mattei MG and Hendy GN. TITLE Localization of mouse parathyroid hormone-like peptide gene (Pthlh) to distal chromosome 6 using interspecific backcross mice and in situ hybridization JOURNAL Cytogenet Cell Genet 60 (3-4), 252-254 (1992) PUBMED 1354597 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB614354.1, BC051981.1 and AI607947.1. Transcript Variant: This variant (3) represents the longest transcript. Variants 1, 2, and 3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051981.1, SRR7345562.3290190.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..591 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 60.56 cM" Protein 1..591 /product="parathyroid hormone/parathyroid hormone-related peptide receptor precursor" /note="parathyroid hormone receptor 1; parathyroid hormone/parathyroid hormone-related peptide receptor; PTH1 receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH-related peptide receptor; PTH/PTHrP receptor" /calculated_mol_wt=63570 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2820 Region 67..104 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 105..170 /region_name="HRM" /note="Hormone receptor domain; pfam02793" /db_xref="CDD:397086" Site 151 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 161 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 176 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 184..476 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Region 187..211 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:410628" Site 189..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 220..241 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Site 220..239 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 282..304 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 283..306 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 321..342 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 323..339 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Region 356..379 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 362..382 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 407..429 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 410..428 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 438..463 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 441..463 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 474..477 /region_name="Important for interaction with G proteins. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" CDS 1..591 /gene="Pth1r" /gene_synonym="PPR; Pthr; Pthr1" /coded_by="NM_001083936.1:311..2086" /db_xref="CCDS:CCDS52940.1" /db_xref="GeneID:19228" /db_xref="MGI:MGI:97801" ORIGIN 1 mgtariapsl alllccpvls sayalvdadd vftkeeqifl lhraqaqcdk llkevlhtaa 61 nimesdkgwt pastsgkprk ekapgkfype skenkdvptg srrrgrpclp ewdnivcwpl 121 gapgevvavp cpdyiydfnh kghayrrcdr ngswevvpgh nrtwanysec lkfmtnetre 181 revfdrlgmi ytvgysmsla sltvavlila yfrrlhctrn yihmhmflsf mlraasifvk 241 davlysgftl deaerlteee lhiiaqvppp paaaavgyag crvavtffly flatnyywil 301 veglylhsli fmaffsekky lwgftifgwg lpavfvavwv gvratlantg cwdlssghkk 361 wiiqvpilas vvlnfilfin iirvlatklr etnagrcdtr qqyrkllrst lvlvplfgvh 421 ytvfmalpyt evsgtlwqiq mhyemlfnsf qgffvaiiyc fcngevqaei rkswsrwtla 481 ldfkrkarsg sssysygpmv shtsvtnvgp raglslplsp rllpattngh sqlpghakpg 541 apaienetip vtmtvpkddg flngscsgld eeasgsarpp pllqeewetv m // LOCUS NP_001349232 500 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 27 [Mus musculus]. ACCESSION NP_001349232 VERSION NP_001349232.1 DBSOURCE REFSEQ: accession NM_001362303.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 500) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 500) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 500) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 500) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 500) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 500) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 500) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 500) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 500) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 500) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.123141.1, SRR6116558.98916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..500 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..500 /product="CUGBP Elav-like family member 4 isoform 27" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53371 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 415..489 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..500 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362303.1:531..2033" /note="isoform 27 is encoded by transcript variant 32" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgnvisskv fvdratnqsf vsfdnpasaq taiqamngfq 481 igmkrlkvql krpkdanrpy // LOCUS NP_032363 155 aa linear ROD 09-OCT-2023 DEFINITION interferon gamma precursor [Mus musculus]. ACCESSION NP_032363 VERSION NP_032363.1 DBSOURCE REFSEQ: accession NM_008337.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 155) AUTHORS Xiao H, Zhao Q, Yuan J, Liang W, Wu R, Wen Y, Du S, Wang Y, Zhao S, Lang Y, Yan Q, Huang X and Cao S. TITLE IFN-gamma promotes PANoptosis in Pasteurella multocida toxin-induced pneumonia in mice JOURNAL Vet Microbiol 285, 109848 (2023) PUBMED 37722207 REMARK GeneRIF: IFN-gamma promotes PANoptosis in Pasteurella multocida toxin-induced pneumonia in mice. REFERENCE 2 (residues 1 to 155) AUTHORS Clark DN, O'Neil SM, Xu L, Steppe JT, Savage JT, Raghunathan K and Filiano AJ. TITLE Prolonged STAT1 activation in neurons drives a pathological transcriptional response JOURNAL J Neuroimmunol 382, 578168 (2023) PUBMED 37556887 REMARK GeneRIF: Prolonged STAT1 activation in neurons drives a pathological transcriptional response. REFERENCE 3 (residues 1 to 155) AUTHORS Centofanti E, Wang C, Iyer S, Krichevsky O, Oyler-Yaniv A and Oyler-Yaniv J. TITLE The spread of interferon-gamma in melanomas is highly spatially confined, driving nongenetic variability in tumor cells JOURNAL Proc Natl Acad Sci U S A 120 (35), e2304190120 (2023) PUBMED 37603742 REMARK GeneRIF: The spread of interferon-gamma in melanomas is highly spatially confined, driving nongenetic variability in tumor cells. REFERENCE 4 (residues 1 to 155) AUTHORS Emami S, Rojas Converso T, Persson JJ and Johansson-Lindbom B. TITLE Insertion of an immunodominant T helper cell epitope within the Group A Streptococcus M protein promotes an IFN-gamma-dependent shift from a non-protective to a protective immune response JOURNAL Front Immunol 14, 1241485 (2023) PUBMED 37654501 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 155) AUTHORS Dalton DK, Pitts-Meek S, Keshav S, Figari IS, Bradley A and Stewart TA. TITLE Multiple defects of immune cell function in mice with disrupted interferon-gamma genes JOURNAL Science 259 (5102), 1739-1742 (1993) PUBMED 8456300 REFERENCE 6 (residues 1 to 155) AUTHORS Beier DR, Dushkin H and Sussman DJ. TITLE Mapping genes in the mouse using single-strand conformation polymorphism analysis of recombinant inbred strains and interspecific crosses JOURNAL Proc Natl Acad Sci U S A 89 (19), 9102-9106 (1992) PUBMED 1409609 REFERENCE 7 (residues 1 to 155) AUTHORS Shimizu A, Sakai Y, Ohno K, Masaki S, Kuwano R, Takahashi Y, Miyashita N and Watanabe T. TITLE A molecular genetic linkage map of mouse chromosome 10, including the Myb, S100b, Pah, Sl, and Ifg genes JOURNAL Biochem Genet 30 (9-10), 529-535 (1992) PUBMED 1359872 REFERENCE 8 (residues 1 to 155) AUTHORS Crnic LS and Segall MA. TITLE Behavioral effects of mouse interferons-alpha and -gamma and human interferon-alpha in mice JOURNAL Brain Res 590 (1-2), 277-284 (1992) PUBMED 1422836 REFERENCE 9 (residues 1 to 155) AUTHORS Salkowski CA and Vogel SN. TITLE IFN-gamma mediates increased glucocorticoid receptor expression in murine macrophages JOURNAL J Immunol 148 (9), 2770-2777 (1992) PUBMED 1315358 REFERENCE 10 (residues 1 to 155) AUTHORS Hamilton TA, Bredon N, Ohmori Y and Tannenbaum CS. TITLE IFN-gamma and IFN-beta independently stimulate the expression of lipopolysaccharide-inducible genes in murine peritoneal macrophages JOURNAL J Immunol 142 (7), 2325-2331 (1989) PUBMED 2494257 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC153498.17. Summary: This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mice deficient in this gene have increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M28621.1, K00083.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..155 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 66.75 cM" Protein 1..155 /product="interferon gamma precursor" /note="IFN-gamma; gamma interferon; interferon 2f" /calculated_mol_wt=15522 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2403 Region 14..150 /region_name="IFN-gamma" /note="Interferon gamma; pfam00714" /db_xref="CDD:395581" mat_peptide 23..155 /product="Interferon gamma. /id=PRO_0000016453" /note="propagated from UniProtKB/Swiss-Prot (P01580.1)" /calculated_mol_wt=15522 Site 38 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P01580.1)" Site 90 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P01580.1)" CDS 1..155 /gene="Ifng" /gene_synonym="If2f; Ifg; IFN-g" /coded_by="NM_008337.4:110..577" /db_xref="CCDS:CCDS24200.1" /db_xref="GeneID:15978" /db_xref="MGI:MGI:107656" ORIGIN 1 mnathcilal qlflmavsgc ychgtviesl eslnnyfnss gidveekslf ldiwrnwqkd 61 gdmkilqsqi isfylrlfev lkdnqaisnn isvieshlit tffsnskakk dafmsiakfe 121 vnnpqvqrqa fnelirvvhq llpesslrkr krsrc // LOCUS NP_033884 110 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 3 [Mus musculus]. ACCESSION NP_033884 VERSION NP_033884.1 DBSOURCE REFSEQ: accession NM_009754.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 110) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 110) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 110) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 110) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 110) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 110) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 110) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 110) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 110) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 110) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK037885.1, AF032461.1, AK082613.1, CB521709.1, CA321725.1, AA881651.1 and BE136124.1. Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150464.1, AK153542.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849376 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..110 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..110 /product="bcl-2-like protein 11 isoform 3" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=12823 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 43..78 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..110 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_009754.3:229..561" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS16712.1" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qasirqsqee pedlrpeiri 61 aqelrrigde fnetytrrvf andyreaedh pqmvilqllr fifrlvwrrh // LOCUS NP_001349259 473 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 48 [Mus musculus]. ACCESSION NP_001349259 VERSION NP_001349259.1 DBSOURCE REFSEQ: accession NM_001362330.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 473) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 473) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 473) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 473) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 473) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 473) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 473) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 473) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 473) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 473) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.155916.1, SRR1660813.153469.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..473 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..473 /product="CUGBP Elav-like family member 4 isoform 48" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50476 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 404..462 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..473 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362330.1:531..1952" /note="isoform 48 is encoded by transcript variant 50" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl liyhlpqefg 421 daelmqmflp fgfvsfdnpa saqtaiqamn gfqigmkrlk vqlkrpkdan rpy // LOCUS NP_001349204 554 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 1 [Mus musculus]. ACCESSION NP_001349204 VERSION NP_001349204.1 DBSOURCE REFSEQ: accession NM_001362275.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 554) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 554) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 554) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 554) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 554) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 554) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 554) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 554) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 554) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 554) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.141098.1, SRR17784643.231175.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..554 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..554 /product="CUGBP Elav-like family member 4 isoform 1" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=59011 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..>463 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..554 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362275.1:531..2195" /note="isoform 1 is encoded by transcript variant 7" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgnvisskv fvdratnqsk cfgrhpvpsr cqapscqggq 481 caisssarrl relrqpgqrt drhpgherlp drheeaqgaa eaaqrrqspv lsaggsvprg 541 rpglaqgrml nglh // LOCUS NP_573458 484 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 38 [Mus musculus]. ACCESSION NP_573458 NP_001349248 XP_911731 XP_924980 XP_924996 XP_925007 XP_925015 XP_925023 XP_925036 XP_925049 XP_925072 XP_925081 XP_925093 XP_925104 XP_925118 XP_925132 VERSION NP_573458.2 DBSOURCE REFSEQ: accession NM_133195.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 484) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 484) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 484) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 484) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 484) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 484) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 484) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 484) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 484) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 484) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8, AK048427.1, AF515450.1, CX242398.1, AK038871.1 and AK078071.1. On or before Aug 8, 2019 this sequence version replaced NP_001349248.1, NP_573458.1. Transcript Variant: This variant (4) encodes isoform (41, also known as D). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK048427.1, SRR1660815.35317.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..484 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..484 /product="CUGBP Elav-like family member 4 isoform 38" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51624 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..473 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..484 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_133195.4:531..1985" /note="isoform 38 is encoded by transcript variant 4" /db_xref="CCDS:CCDS29106.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda 481 nrpy // LOCUS NP_001349260 457 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 49 [Mus musculus]. ACCESSION NP_001349260 XP_006525579 VERSION NP_001349260.1 DBSOURCE REFSEQ: accession NM_001362331.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 457) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 457) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 457) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 457) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 457) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 457) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 457) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 457) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 457) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 457) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_006525579.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.184792.1, SRR1660817.87104.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..457 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..457 /product="CUGBP Elav-like family member 4 isoform 49" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=48538 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region <416..456 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..457 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362331.1:531..1904" /note="isoform 49 is encoded by transcript variant 51" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregfvsf 421 dnpasaqtai qamngfqigm krlkvqlkrp kdanrpy // LOCUS NP_001397150 546 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform g [Mus musculus]. ACCESSION NP_001397150 XP_006505068 VERSION NP_001397150.1 DBSOURCE REFSEQ: accession NM_001410221.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 546) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 546) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 546) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 546) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 546) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 546) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 546) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 546) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 546) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 546) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_006505068.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422601.2370566.1, SRR13422597.1325606.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..546 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..546 /product="nuclear respiratory factor 1 isoform g" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=58438 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 462..537 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" Site 519 /site_type="other" /note="key conserved lysine K48" /db_xref="CDD:340516" CDS 1..546 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410221.1:271..1911" /note="isoform g is encoded by transcript variant 11" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda ngpdgvhawt iskavtapqa 481 agkihtdfgk gfimaevmkd edlkeessen aakaagkykq qgrayvvedg diiffkfnsp 541 qqlkkk // LOCUS NP_033268 302 aa linear ROD 09-OCT-2023 DEFINITION SPARC precursor [Mus musculus]. ACCESSION NP_033268 XP_916834 VERSION NP_033268.1 DBSOURCE REFSEQ: accession NM_009242.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 302) AUTHORS Ryu S, Spadaro O, Sidorov S, Lee AH, Caprio S, Morrison C, Smith SR, Ravussin E, Shchukina I, Artyomov MN, Youm YH and Dixit VD. TITLE Reduction of SPARC protects mice against NLRP3 inflammasome activation and obesity JOURNAL J Clin Invest 133 (19), e169173 (2023) PUBMED 37781916 REMARK GeneRIF: Reduction of SPARC protects mice against NLRP3 inflammasome activation and obesity. Publication Status: Online-Only REFERENCE 2 (residues 1 to 302) AUTHORS Pina JO, Raju R, Roth DM, Winchester EW, Chattaraj P, Kidwai F, Faucz FR, Iben J, Mitra A, Campbell K, Fridell G, Esnault C, Cotney JL, Dale RK and D'Souza RN. TITLE Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis JOURNAL Nat Commun 14 (1), 5687 (2023) PUBMED 37709732 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 302) AUTHORS Feldt J, Garriz A, Rodriguez Benavente MC, Woodward AM, Zoukhri D and Argueso P. TITLE The Matricellular Protein SPARC Decreases in the Lacrimal Gland At Adulthood and During Inflammation JOURNAL Invest Ophthalmol Vis Sci 63 (13), 8 (2022) PUBMED 36479944 REMARK GeneRIF: The Matricellular Protein SPARC Decreases in the Lacrimal Gland At Adulthood and During Inflammation. REFERENCE 4 (residues 1 to 302) AUTHORS Mathes S, Fahrner A, Luca E and Krutzfeldt J. TITLE Growth hormone/IGF-I-dependent signaling restores decreased expression of the myokine SPARC in aged skeletal muscle JOURNAL J Mol Med (Berl) 100 (11), 1647-1658 (2022) PUBMED 36178526 REMARK GeneRIF: Growth hormone/IGF-I-dependent signaling restores decreased expression of the myokine SPARC in aged skeletal muscle. REFERENCE 5 (residues 1 to 302) AUTHORS Ryu S, Sidorov S, Ravussin E, Artyomov M, Iwasaki A, Wang A and Dixit VD. TITLE The matricellular protein SPARC induces inflammatory interferon-response in macrophages during aging JOURNAL Immunity 55 (9), 1609-1626 (2022) PUBMED 35963236 REFERENCE 6 (residues 1 to 302) AUTHORS Baron B, Poirier C, Simon-Chazottes D, Barnier C and Guenet JL. TITLE A new strategy useful for rapid identification of microsatellites from DNA libraries with large size inserts JOURNAL Nucleic Acids Res 20 (14), 3665-3669 (1992) PUBMED 1386425 REFERENCE 7 (residues 1 to 302) AUTHORS Bloom ML, Lee BK, Birkenmeier CS, Ma Y, Zimmer WE, Goodman SR, Eicher EM and Barker JE. TITLE Brain beta spectrin isoform 235 (Spnb-2) maps to mouse chromosome 11 JOURNAL Mamm Genome 3 (5), 293-295 (1992) PUBMED 1638088 REFERENCE 8 (residues 1 to 302) AUTHORS Le Roy H, Simon-Chazottes D, Montagutelli X and Guenet JL. TITLE A set of anonymous DNA clones as markers for mouse gene mapping JOURNAL Mamm Genome 3 (4), 244-246 (1992) PUBMED 1351769 REFERENCE 9 (residues 1 to 302) AUTHORS Baldacci PA, Richoux V, Renard JP, Guenet JL and Babinet C. TITLE The locus Om, responsible for the DDK syndrome, maps close to Sigje on mouse chromosome 11 JOURNAL Mamm Genome 2 (2), 100-105 (1992) PUBMED 1347470 REFERENCE 10 (residues 1 to 302) AUTHORS Buckwalter MS, Katz RW and Camper SA. TITLE Localization of the panhypopituitary dwarf mutation (df) on mouse chromosome 11 in an intersubspecific backcross JOURNAL Genomics 10 (3), 515-526 (1991) PUBMED 1889803 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY781653.1, BB857564.1, AK161229.1, AA798908.1, CJ132527.1 and BE655213.1. On Dec 7, 2005 this sequence version replaced XP_916834.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.15933.1, SRR1660811.202887.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..302 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 33.04 cM" Protein 1..302 /product="SPARC precursor" /note="basement-membrane protein 40; secreted protein acidic and rich in cysteine; osteonectin" /calculated_mol_wt=32516 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1952 Region 70..151 /region_name="FSL_SPARC" /note="Follistatin-like SPARC (secreted protein, acidic, and rich in cysteines) domain; SPARC/BM-40/osteonectin is a multifunctional glycoprotein which modulates cellular interaction with the extracellular matrix by its binding to structural matrix proteins...; cd01328" /db_xref="CDD:238649" Site 115 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238649" Site 115 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000305|PubMed:3427055; propagated from UniProtKB/Swiss-Prot (P07214.1)" Region 154..293 /region_name="EFh_SPARC_SPARC" /note="EF-hand, extracellular calcium-binding (EC) motif, found in secreted protein acidic and rich in cysteine (SPARC); cd16235" /db_xref="CDD:320014" Site order(161..162,165..166,168..169,172..173,176,180,258, 261..262) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:320014" Region 226..259 /region_name="EF-hand motif" /note="EF-hand motif [structural motif]" /db_xref="CDD:320014" Site order(238,243,250,273,275,277,284) /site_type="other" /note="Ca binding site [ion binding]" /db_xref="CDD:320014" Site order(248..249,263) /site_type="other" /note="EC/FS-domain interface" /db_xref="CDD:320014" Region 261..293 /region_name="EF-hand motif" /note="EF-hand motif [structural motif]" /db_xref="CDD:320014" CDS 1..302 /gene="Sparc" /gene_synonym="BM-40; ON" /coded_by="NM_009242.5:307..1215" /db_xref="CCDS:CCDS24712.1" /db_xref="GeneID:20692" /db_xref="MGI:MGI:98373" ORIGIN 1 mrawiffllc lagralaapq qtevaeeive eetvveetgv pvganpvqve mgefedgaee 61 tveevvadnp cqnhhckhgk vceldesntp mcvcqdptsc papigefekv csndnktfds 121 schffatkct legtkkghkl hldyigpcky iapcldselt efplrmrdwl knvlvtlyer 181 degnnlltek qklrvkkihe nekrleagdh pvellardfe knynmyifpv hwqfgqldqh 241 pidgylshte laplraplip mehcttrffe tcdldndkyi aleewagcfg ikeqdinkdl 301 vi // LOCUS NP_001349218 524 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 14 [Mus musculus]. ACCESSION NP_001349218 XP_017173279 VERSION NP_001349218.1 DBSOURCE REFSEQ: accession NM_001362289.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 524) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 524) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 524) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 524) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 524) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 524) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 524) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 524) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 524) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 524) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173279.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.174716.1, SRR7652917.344998.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..524 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..524 /product="CUGBP Elav-like family member 4 isoform 14" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=55794 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..>433 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..524 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362289.1:531..2105" /note="isoform 14 is encoded by transcript variant 20" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt drhpgherlp 481 drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgrml nglh // LOCUS NP_001157702 519 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform e [Mus musculus]. ACCESSION NP_001157702 VERSION NP_001157702.1 DBSOURCE REFSEQ: accession NM_001164230.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 519) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 519) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 519) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 519) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 519) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 519) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 519) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 519) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 519) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 519) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and shorter C-terminus in isoform e, compared to isoform a. Variants 5 and 16 both encode the same isoform (e). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17253011.3125907.1, SRR17253012.1140558.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..519 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..519 /product="nuclear respiratory factor 1 isoform e" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=55677 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" CDS 1..519 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001164230.2:271..1830" /note="isoform e is encoded by transcript variant 5" /db_xref="CCDS:CCDS51740.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lgspvlpeim asktrgyrhs cgrdlyrlfs 481 ffllysknne rillapatsg spcfyvrnii tirvgilss // LOCUS NP_001277685 1050 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 7 isoform a precursor [Mus musculus]. ACCESSION NP_001277685 XP_006528779 VERSION NP_001277685.1 DBSOURCE REFSEQ: accession NM_001290756.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1050) AUTHORS Huang Y, Liu D, Chen M, Xu S, Peng Q, Zhu Y, Long J, Liu T, Deng Z, Xie H, Li J, Liu F and Xiao W. TITLE TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea JOURNAL PeerJ 11, e15976 (2023) PUBMED 37780385 REMARK GeneRIF: TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1050) AUTHORS Miles MA, Liong S, Liong F, Coward-Smith M, Trollope GS, Oseghale O, Erlich JR, Brooks RD, Logan JM, Hickey S, Wang H, Bozinovski S, O'Leary JJ, Brooks DA and Selemidis S. TITLE TLR7 promotes chronic airway disease in RSV-infected mice JOURNAL Front Immunol 14, 1240552 (2023) PUBMED 37795093 REMARK GeneRIF: TLR7 promotes chronic airway disease in RSV-infected mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1050) AUTHORS Cosgrove HA, Gingras S, Kim M, Bastacky S, Tilstra JS and Shlomchik MJ. TITLE B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice JOURNAL JCI Insight 8 (16), e172219 (2023) PUBMED 37606042 REMARK GeneRIF: B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1050) AUTHORS Kim J, Ha S, Son M, Kim D, Kim MJ, Kim B, Kim D, Chung HY and Chung KW. TITLE TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells JOURNAL Cell Commun Signal 21 (1), 215 (2023) PUBMED 37596656 REMARK GeneRIF: TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1050) AUTHORS Jackson WD, Giacomassi C, Ward S, Owen A, Luis TC, Spear S, Woollard KJ, Johansson C, Strid J and Botto M. TITLE TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity JOURNAL Elife 12, e85647 (2023) PUBMED 37566453 REMARK GeneRIF: TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1050) AUTHORS Heil F, Hemmi H, Hochrein H, Ampenberger F, Kirschning C, Akira S, Lipford G, Wagner H and Bauer S. TITLE Species-specific recognition of single-stranded RNA via toll-like receptor 7 and 8 JOURNAL Science 303 (5663), 1526-1529 (2004) PUBMED 14976262 REMARK GeneRIF: mediates species-specific recognition of GU-rich single-stranded RNA (ssRNA); data suggest that ssRNA represents a physiological ligand for TLR7 REFERENCE 7 (residues 1 to 1050) AUTHORS Diebold SS, Kaisho T, Hemmi H, Akira S and Reis e Sousa C. TITLE Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA JOURNAL Science 303 (5663), 1529-1531 (2004) PUBMED 14976261 REMARK GeneRIF: results identify ssRNA as a ligand for TLR7 and suggest that cells of the innate immune system sense endosomal ssRNA to detect infection by RNA viruses REFERENCE 8 (residues 1 to 1050) AUTHORS Pinhal-Enfield G, Ramanathan M, Hasko G, Vogel SN, Salzman AL, Boons GJ and Leibovich SJ. TITLE An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors JOURNAL Am J Pathol 163 (2), 711-721 (2003) PUBMED 12875990 REMARK GeneRIF: Results suggest novel signaling pathway in murine macrophages involving synergy between toll-like receptors 2, 4, 7, and 9 and adenosine A(2A)receptors, that up-regulates VEGF and down-regulates TNFalpha expression, thus acting as an angiogenic switch. REFERENCE 9 (residues 1 to 1050) AUTHORS Jurk,M., Heil,F., Vollmer,J., Schetter,C., Krieg,A.M., Wagner,H., Lipford,G. and Bauer,S. TITLE Human TLR7 or TLR8 independently confer responsiveness to the antiviral compound R-848 JOURNAL Nat Immunol 3 (6), 499 (2002) PUBMED 12032557 REFERENCE 10 (residues 1 to 1050) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL731735.14, AK036549.1, AJ812654.1 and BY543663.1. On Mar 19, 2014 this sequence version replaced XP_006528779.1. Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219382.9711.1, SRR13861859.2517504.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1050 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 78.31 cM" Protein 1..1050 /product="toll-like receptor 7 isoform a precursor" /note="Toll like receptor 7" /calculated_mol_wt=118668 sig_peptide 1..26 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" /calculated_mol_wt=3187 Region <32..>243 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 42..64 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 48..69 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 65..87 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 66 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 69 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 70..90 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 89..111 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 91..128 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 126..149 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 129..152 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 151..170 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 167 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 171..195 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 174..>786 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Region 174..205 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 203..226 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 206..226 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 215 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 227..250 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 228..247 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 248..273 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 251..291 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 275..289 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 290..312 /region_name="LRR 11" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 292..315 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 314..337 /region_name="LRR 12" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 316..341 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..364 /region_name="LRR 13" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 342..398 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 369..392 /region_name="LRR 14" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 387 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 396..419 /region_name="LRR 15" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 399..422 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 421..443 /region_name="LRR 16" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 493..516 /region_name="LRR 17" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 497..519 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 517..542 /region_name="LRR 18" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 520..544 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 524 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 535 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 543..565 /region_name="LRR 19" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 545..568 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 567..589 /region_name="LRR 20" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 569..598 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 591 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 596..619 /region_name="LRR 21" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 599..621 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 620..645 /region_name="LRR 22" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 622..652 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 650..673 /region_name="LRR 23" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 653..677 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 675..698 /region_name="LRR 24" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 678..701 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 680 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 699..722 /region_name="LRR 25" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 702..725 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 721 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 724..746 /region_name="LRR 26" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 747..770 /region_name="LRR 27" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 750..775 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 754..>838 /region_name="PCC" /note="polycystin cation channel protein; TIGR00864" /db_xref="CDD:188093" Region 773..796 /region_name="LRR 28" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 800 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 838..858 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 891..1036 /region_name="TIR" /note="Toll - interleukin 1 - resistance; smart00255" /db_xref="CDD:214587" CDS 1..1050 /gene="Tlr7" /coded_by="NM_001290756.1:300..3452" /note="isoform a precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS72469.1" /db_xref="GeneID:170743" /db_xref="MGI:MGI:2176882" ORIGIN 1 mvfsmwtrkr qiliflnmll vsrvfgfrwf pktlpcevkv nipeahvivd ctdkhlteip 61 egiptnttnl tltinhipsi spdsfrrlnh leeidlrcnc vpvllgskan vctkrlqirp 121 gsfsglsdlk alyldgnqll eipqdlpssl hllsleanni fsitkenlte lvnietlylg 181 qncyyrnpcn vsysiekdaf lvmrnlkvls lkdnnvtavp ttlppnllel ylynniikki 241 qendfnnlne lqvldlsgnc prcynvpypc tpcennsplq ihdnafnslt elkvlrlhsn 301 slqhvpptwf knmrnlqeld lsqnylarei eeakflhflp nlveldfsfn yelqvyhasi 361 tlphslssle nlkilrvkgy vfkelknssl svlhklprle vldlgtnfik iadlnifkhf 421 enlklidlsv nkispseesr evgfcpnaqt svdrhgpqvl ealhyfryde yarscrfknk 481 eppsflplna dchiygqtld lsrnniffik psdfqhlsfl kclnlsgnti gqtlngselw 541 plrelryldf snnrldllys tafeelqsle vldlssnshy fqaegithml nftkklrlld 601 klmmndndis tsasrtmesd slrilefrgn hldvlwragd nryldffknl fnlevldisr 661 nslnslppev fegmppnlkn lslaknglks ffwdrlqllk hleildlshn qltkvperla 721 ncskslttli lkhnqirqlt kyfledalql ryldissnki qviqktsfpe nvlnnlemlv 781 lhhnrflcnc davwfvwwvn htdvtipyla tdvtcvgpga hkgqsvisld lytceldltn 841 lilfsvsiss vlflmvvmtt shlffwdmwy iyyfwkakik gyqhlqsmes cydafivydt 901 knsavtewvl qelvakledp rekhfnlcle erdwlpgqpv lenlsqsiql skktvfvmtq 961 kyaktesfkm afylshqrll dekvdviili flekplqksk flqlrkrlcr ssvlewpanp 1021 qahpyfwqcl knalttdnhv aysqmfketv // LOCUS NP_001313223 1104 aa linear ROD 09-OCT-2023 DEFINITION A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 3 [Mus musculus]. ACCESSION NP_001313223 XP_006510826 VERSION NP_001313223.1 DBSOURCE REFSEQ: accession NM_001326294.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1104) AUTHORS Sharifi MA, Wierer M, Dang TA, Milic J, Moggio A, Sachs N, von Scheidt M, Hinterdobler J, Muller P, Werner J, Stiller B, Aherrahrou Z, Erdmann J, Zaliani A, Graettinger M, Reinshagen J, Gul S, Gribbon P, Maegdefessel L, Bernhagen J, Sager HB, Mann M, Schunkert H and Kessler T. TITLE ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1 JOURNAL Circ Res 133 (8), 674-686 (2023) PUBMED 37675562 REMARK GeneRIF: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1. REFERENCE 2 (residues 1 to 1104) AUTHORS Gong Z, Huang J, Wang D, Yang S, Ma Z, Fu Y, Ma Q and Kong W. TITLE ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice JOURNAL J Mol Med (Berl) 101 (3), 237-248 (2023) PUBMED 36662289 REMARK GeneRIF: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice. REFERENCE 3 (residues 1 to 1104) AUTHORS Ma Z, Mao C, Jia Y, Yu F, Xu P, Tan Y, Zou QH, Zhou XJ, Kong W and Fu Y. TITLE ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries JOURNAL J Am Soc Nephrol 34 (2), 291-308 (2023) PUBMED 36735376 REMARK GeneRIF: ADAMTS7-Mediated Complement Factor H Degradation Potentiates Complement Activation to Contributing to Renal Injuries. REFERENCE 4 (residues 1 to 1104) AUTHORS Jaiswal AK and Mishra A. TITLE ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses JOURNAL Lung 200 (3), 305-313 (2022) PUBMED 35503474 REMARK GeneRIF: ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses. REFERENCE 5 (residues 1 to 1104) AUTHORS Mizoguchi T, MacDonald BT, Bhandary B, Popp NR, Laprise D, Arduini A, Lai D, Zhu QM, Xing Y, Kaushik VK, Kathiresan S and Ellinor PT. TITLE Coronary Disease Association With ADAMTS7 Is Due to Protease Activity JOURNAL Circ Res 129 (4), 458-470 (2021) PUBMED 34176299 REFERENCE 6 (residues 1 to 1104) AUTHORS Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP and Liu CJ. TITLE ADAMTS-7 forms a positive feedback loop with TNF-alpha in the pathogenesis of osteoarthritis JOURNAL Ann Rheum Dis 73 (8), 1575-1584 (2014) PUBMED 23928557 REMARK GeneRIF: ADAMTS-7 and TNF-alpha form a positive feedback loop in the regulation of cartilage degradation and osteoarthritis progression. REFERENCE 7 (residues 1 to 1104) AUTHORS Du J, Takeuchi H, Leonhard-Melief C, Shroyer KR, Dlugosz M, Haltiwanger RS and Holdener BC. TITLE O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation JOURNAL Dev Biol 346 (1), 25-38 (2010) PUBMED 20637190 REFERENCE 8 (residues 1 to 1104) AUTHORS Bai XH, Wang DW, Kong L, Zhang Y, Luan Y, Kobayashi T, Kronenberg HM, Yu XP and Liu CJ. TITLE ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor JOURNAL Mol Cell Biol 29 (15), 4201-4219 (2009) PUBMED 19487464 REMARK GeneRIF: Findings demonstrate that ADAMTS-7, a direct target of PTHrP signaling, negatively regulates endochondral bone formation by associating with and inactivating GEP chondrogenic growth factor. REFERENCE 9 (residues 1 to 1104) AUTHORS Somerville RP, Longpre JM, Apel ED, Lewis RM, Wang LW, Sanes JR, Leduc R and Apte SS. TITLE ADAMTS7B, the full-length product of the ADAMTS7 gene, is a chondroitin sulfate proteoglycan containing a mucin domain JOURNAL J Biol Chem 279 (34), 35159-35175 (2004) PUBMED 15192113 REMARK GeneRIF: ADAMTS7B has a domain organization with a total of eight thrombospondin type 1 repeats in its ancillary domain. Of these, seven are arranged in two distinct clusters that are separated by a mucin domain REFERENCE 10 (residues 1 to 1104) AUTHORS Hurskainen TL, Hirohata S, Seldin MF and Apte SS. TITLE ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family JOURNAL J Biol Chem 274 (36), 25555-25563 (1999) PUBMED 10464288 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BY347798.1, BC076575.1 and BC058991.1. On May 13, 2016 this sequence version replaced XP_006510826.1. Summary: This gene encodes a member of 'a disintegrin and metalloproteinase with thrombospondin motifs' (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC076575.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1104 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="9" /map="9 47.46 cM" Protein 1..1104 /product="A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform 3" /EC_number="3.4.24.-" /note="a disintegrin and metalloproteinase with thrombospondin motifs 7; COMPase; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7; a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7" /calculated_mol_wt=121056 Region 73..171 /region_name="ADAM_CR_3" /note="ADAM cysteine-rich domain; pfam19236" /db_xref="CDD:437068" Region 173..282 /region_name="ADAM_spacer1" /note="ADAM-TS Spacer 1; pfam05986" /db_xref="CDD:428708" Region 297..351 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 355..411 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region <512..850 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 833..881 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 884..939 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 942..988 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" Region 991..1046 /region_name="TSP1_ADAMTS" /note="Thrombospondin type 1 domain; pfam19030" /db_xref="CDD:408800" CDS 1..1104 /gene="Adamts7" /gene_synonym="ADAM-TS7; ADAMTS7B" /coded_by="NM_001326294.1:1655..4969" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:108153" /db_xref="MGI:MGI:1347346" ORIGIN 1 mgltlptvrt wmmsathyga lwgppvtpsw mrlwmaravg rirpknrgky cvgerkrsql 61 cnlpacppdr psfrhtqcsq fdgmlykgkl hkwvpvpndd npcelhcrps nssnteklrd 121 avvdgtpcyq srisrdicln gicknvgcdf vidsgaeedr cgvcrgdgst cqtvsrtfke 181 tegqgyvdig lipagareil ieevaeaanf lalrsedpdk yflnggwtiq wngdyrvagt 241 tftyarkgnw enltspgpts epvwiqllfq eknpgvhyqy tiqrdshdqv rppefswhyg 301 pwskctvtcg tgvqrqslyc merqagvvae eycntlnrpd erqrkcseep cpprwwagew 361 qpcsrscgpe glsrravfci rsmgldeqra lelsacehlp rplaetpcnr hvicpstwgv 421 gnwsqypmyi vdtgasgsgs sspelfnevd fipnqlaprp spasspkpvs isnaideeel 481 dppgpvfvdd fyydynfinf hedlsygsfe ephpdlvdng gwtapphirp tespsdtpvp 541 tagalgaeae diqgswspsp llseasyspp gleqtsinpl anflteedtp mgapelgfps 601 lpwppasvdd mmtpvgpgnp dellvkedeq sppstpwsdr nklstdgnpl ghtspalpqs 661 piptqpspps isptqaspsp dvvevstgwn aawdpvlead lkpghgelps tvevasppll 721 pmatvpgiwg rdsplepgtp tfsspelssq hlktltmpgt llltvptdlr spgpsgqpqt 781 pnlegtqspg llptparetq tnsskdpevq plqpsleedg dpadplparn aswqvgnwsq 841 csttcglgai wrlvscssgn dedctlasrp qparhchlrp caawrtgnws kcsrncgggs 901 strdvqcvdt rdlrplrpfh cqpgptkppn rqlcgtqpcl pwytsswrec seacgggeqq 961 rlvtcpepgl ceeslrpnns rpcnthpctq wvvgpwgqcs apcgggvqrr lvrcvntqtg 1021 laeedsdlcs heawpessrp catedcelve pprcerdrls fnfcetlrll grcqlptira 1081 qccrscppls rgvpsrghqr varr // LOCUS NP_031420 509 aa linear ROD 09-OCT-2023 DEFINITION activin receptor type-1 precursor [Mus musculus]. ACCESSION NP_031420 VERSION NP_031420.2 DBSOURCE REFSEQ: accession NM_007394.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 509) AUTHORS Yang YS, Lin C, Ma H, Xie J, Kaplan FS, Gao G and Shim JH. TITLE AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva JOURNAL Biomolecules 13 (9), 1364 (2023) PUBMED 37759764 REMARK GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only REFERENCE 2 (residues 1 to 509) AUTHORS Yamaguchi H, Shen J, Little DR, Li M, Sozen S, Suzuki K, Mishina Y and Komatsu Y. TITLE Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation JOURNAL Biochem Biophys Res Commun 629, 101-105 (2022) PUBMED 36116371 REMARK GeneRIF: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation. REFERENCE 3 (residues 1 to 509) AUTHORS Yamamoto M, Stoessel SJ, Yamamoto S and Goldhamer DJ. TITLE Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification JOURNAL J Bone Miner Res 37 (11), 2077-2093 (2022) PUBMED 35637634 REMARK GeneRIF: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification. REFERENCE 4 (residues 1 to 509) AUTHORS Lees-Shepard JB, Stoessel SJ, Chandler JT, Bouchard K, Bento P, Apuzzo LN, Devarakonda PM, Hunter JW and Goldhamer DJ. TITLE An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice JOURNAL J Clin Invest 132 (12) (2022) PUBMED 35503416 REFERENCE 5 (residues 1 to 509) AUTHORS Chen HY, Hu Y, Xu XB, Zhou YA, Li NS, He C, Xie C, Lu NH and Zhu Y. TITLE Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2 JOURNAL Helicobacter 26 (6), e12849 (2021) PUBMED 34490965 REMARK GeneRIF: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2. REFERENCE 6 (residues 1 to 509) AUTHORS Schmitt J, Mielke R and Schrewe H. TITLE Genomic organization of a mouse type I activin receptor JOURNAL Biochem Biophys Res Commun 213 (1), 211-217 (1995) PUBMED 7639738 REFERENCE 7 (residues 1 to 509) AUTHORS Verschueren K, Dewulf N, Goumans MJ, Lonnoy O, Feijen A, Grimsby S, Vandi Spiegle K, ten Dijke P, Moren A, Vanscheeuwijck P, Heldin CH, Miyazono K, Mummery C, Van Den Eijnden-Van Raaij J and Huylebroeck D. TITLE Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis JOURNAL Mech Dev 52 (1), 109-123 (1995) PUBMED 7577669 REFERENCE 8 (residues 1 to 509) AUTHORS Roelen BA, Lin HY, Knezevic V, Freund E and Mummery CL. TITLE Expression of TGF-beta s and their receptors during implantation and organogenesis of the mouse embryo JOURNAL Dev Biol 166 (2), 716-728 (1994) PUBMED 7813789 REFERENCE 9 (residues 1 to 509) AUTHORS Nakamura T, Sugino K, Kurosawa N, Sawai M, Takio K, Eto Y, Iwashita S, Muramatsu M, Titani K and Sugino H. TITLE Isolation and characterization of activin receptor from mouse embryonal carcinoma cells. Identification of its serine/threonine/tyrosine protein kinase activity JOURNAL J Biol Chem 267 (26), 18924-18928 (1992) PUBMED 1326537 REFERENCE 10 (residues 1 to 509) AUTHORS Mathews LS and Vale WW. TITLE Expression cloning of an activin receptor, a predicted transmembrane serine kinase JOURNAL Cell 65 (6), 973-982 (1991) PUBMED 1646080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK150014.1, BC058718.1 and BQ030975.1. On Dec 20, 2003 this sequence version replaced NP_031420.1. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150014.1, AK150075.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..509 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 33.05 cM" Protein 1..509 /product="activin receptor type-1 precursor" /EC_number="2.7.11.30" /note="activin receptor type-1; TSR-I; TSK-7L; activin receptor type I; TGF-B superfamily receptor type I; serine/threonine-protein kinase receptor R1" /calculated_mol_wt=55077 sig_peptide 1..20 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=2167 mat_peptide 21..509 /product="Activin receptor type-1. /id=PRO_0000024395" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=55077 Region 33..103 /region_name="Activin_recp" /note="Activin types I and II receptor domain; pfam01064" /db_xref="CDD:426025" Site 102 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P37172.2)" Site 124..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" Region 179..206 /region_name="TGF_beta_GS" /note="Transforming growth factor beta type I GS-motif; pfam08515" /db_xref="CDD:430045" Region 202..499 /region_name="STKc_ACVR1_ALK1" /note="Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1; cd14142" /db_xref="CDD:271044" Site order(202..203,206..207,245..246,249..250,253..254,268, 270) /site_type="other" /note="FKBP12 binding site [polypeptide binding]" /db_xref="CDD:271044" Site order(214..218,222,233,235,263,283..286,290,292,336,338, 340..341,343,354,357,377..380) /site_type="active" /db_xref="CDD:271044" Site order(214..220,222,233,235,283..284,286,290,340..341,343, 354) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271044" Site order(218,290,292,336,338,340,357,377..380) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271044" Site 353..380 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271044" Site 501 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q04771; propagated from UniProtKB/Swiss-Prot (P37172.2)" CDS 1..509 /gene="Acvr1" /gene_synonym="ActR-I; ActRIA; Acvr; Acvr1a; Acvrlk2; Alk-2; ALK2; Alk8; D330013D15Rik; SKR1; Tsk7L" /coded_by="NM_007394.3:423..1952" /db_xref="CCDS:CCDS16050.1" /db_xref="GeneID:11477" /db_xref="MGI:MGI:87911" ORIGIN 1 mvdgvmilpv lmmmafpsps vedekpkvnq klymcvcegl scgnedhceg qqcfsslsin 61 dgfhvyqkgc fqvyeqgkmt cktppspgqa veccqgdwcn rnitaqlptk gksfpgtqnf 121 hlevgliils vvfavcllac ilgvalrkfk rrnqerlnpr dveygtiegl ittnvgdstl 181 aelldhscts gsgsglpflv qrtvarqitl lecvgkgryg evwrgswqge nvavkifssr 241 dekswfrete lyntvmlrhe nilgfiasdm tsrhsstqlw lithyhemgs lydylqlttl 301 dtvsclrivl siasglahlh ieifgtqgks aiahrdlksk nilvkkngqc ciadlglavm 361 hsqstnqldv gnnprvgtkr ymapevldet iqvdcfdsyk rvdiwafglv lwevarrmvs 421 ngivedykpp fydvvpndps fedmrkvvcv dqqrpnipnr wfsdptltsl aklmkecwyq 481 npsarltalr ikktltkidn sldklktdc // LOCUS NP_001167021 351 aa linear ROD 09-OCT-2023 DEFINITION C5a anaphylatoxin chemotactic receptor 1 [Mus musculus]. ACCESSION NP_001167021 VERSION NP_001167021.1 DBSOURCE REFSEQ: accession NM_001173550.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 351) AUTHORS Petrisko TJ, Gargus M, Chu SH, Selvan P, Whiteson KL and Tenner AJ. TITLE Influence of complement protein C1q or complement receptor C5aR1 on gut microbiota composition in wildtype and Alzheimer's mouse models JOURNAL J Neuroinflammation 20 (1), 211 (2023) PUBMED 37726739 REMARK GeneRIF: Influence of complement protein C1q or complement receptor C5aR1 on gut microbiota composition in wildtype and Alzheimer's mouse models. Publication Status: Online-Only REFERENCE 2 (residues 1 to 351) AUTHORS Wiese AV, Duhn J, Korkmaz RU, Quell KM, Osman I, Ender F, Schroder T, Lewkowich I, Hogan S, Huber-Lang M, Gumprecht F, Konig P, Kohl J and Laumonnier Y. TITLE C5aR1 activation in mice controls inflammatory eosinophil recruitment and functions in allergic asthma JOURNAL Allergy 78 (7), 1893-1908 (2023) PUBMED 36757006 REMARK GeneRIF: C5aR1 activation in mice controls inflammatory eosinophil recruitment and functions in allergic asthma. REFERENCE 3 (residues 1 to 351) AUTHORS Silva BM, Gomes GF, Veras FP, Cambier S, Silva GV, Quadros AU, Caetite DB, Nascimento DC, Silva CM, Silva JC, Damasceno S, Schneider AH, Beretta F, Batah SS, Castro IM, Paiva IM, Rodrigues T, Salina A, Martins R, Cebinelli GC, Bibo NL, Jorge DM, Nakaya HI, Zamboni DS, Leiria LO, Fabro AT, Alves-Filho JC, Arruda E, Louzada-Junior P, Oliveira RD, Cunha LD, Van Mol P, Vanderbeke L, Feys S, Wauters E, Brandolini L, Aramini A, Cunha FQ, Kohl J, Allegretti M, Lambrechts D, Wauters J, Proost P and Cunha TM. TITLE C5aR1 signaling triggers lung immunopathology in COVID-19 through neutrophil extracellular traps JOURNAL J Clin Invest 133 (12), e163105 (2023) PUBMED 37104043 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 351) AUTHORS Ratajczak MZ, Adamiak M, Abdelbaset-Ismail A, Bujko K, Thapa A, Chumak V, Franczak S, Brzezniakiewicz-Janus K, Ratajczak J and Kucia M. TITLE Intracellular complement (complosome) is expressed in hematopoietic stem/progenitor cells (HSPCs) and regulates cell trafficking, metabolism and proliferation in an intracrine Nlrp3 inflammasome-dependent manner JOURNAL Leukemia 37 (6), 1401-1405 (2023) PUBMED 37055506 REFERENCE 5 (residues 1 to 351) AUTHORS Kong LR, Chen XH, Sun Q, Zhang KY, Xu L, Ding L, Zhou YP, Zhang ZB, Lin JR and Gao PJ. TITLE Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway JOURNAL Cell Rep 42 (2), 112078 (2023) PUBMED 36735535 REMARK GeneRIF: Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway. REFERENCE 6 (residues 1 to 351) AUTHORS Clynes R, Maizes JS, Guinamard R, Ono M, Takai T and Ravetch JV. TITLE Modulation of immune complex-induced inflammation in vivo by the coordinate expression of activation and inhibitory Fc receptors JOURNAL J Exp Med 189 (1), 179-185 (1999) PUBMED 9874574 REFERENCE 7 (residues 1 to 351) AUTHORS Hopken UE, Lu B, Gerard NP and Gerard C. TITLE Impaired inflammatory responses in the reverse arthus reaction through genetic deletion of the C5a receptor JOURNAL J Exp Med 186 (5), 749-756 (1997) PUBMED 9271590 REFERENCE 8 (residues 1 to 351) AUTHORS Bozic CR, Lu B, Hopken UE, Gerard C and Gerard NP. TITLE Neurogenic amplification of immune complex inflammation JOURNAL Science 273 (5282), 1722-1725 (1996) PUBMED 8781237 REFERENCE 9 (residues 1 to 351) AUTHORS Hopken UE, Lu B, Gerard NP and Gerard C. TITLE The C5a chemoattractant receptor mediates mucosal defence to infection JOURNAL Nature 383 (6595), 86-89 (1996) PUBMED 8779720 REFERENCE 10 (residues 1 to 351) AUTHORS Gerard C, Bao L, Orozco O, Pearson M, Kunz D and Gerard NP. TITLE Structural diversity in the extracellular faces of peptidergic G-protein-coupled receptors. Molecular cloning of the mouse C5a anaphylatoxin receptor JOURNAL J Immunol 149 (8), 2600-2606 (1992) PUBMED 1401897 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156630.6. Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK158027.1, BC125641.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..351 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 8.77 cM" Protein 1..351 /product="C5a anaphylatoxin chemotactic receptor 1" /note="C5a anaphylatoxin receptor; C5a-R; complement component 5, receptor 1; C5a ligand" /calculated_mol_wt=38892 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 13 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 16 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 38..312 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Site 38..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 40..64 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:410628" Site 70..93 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 72..93 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Region 110..132 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 111..132 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 154..174 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 155..171 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Region 201..224 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 202..227 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 242..264 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 244..266 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 280..305 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 284..304 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 315 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 318 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 325 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 328 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" Region 329..351 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 333 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (P30993.2)" Site 339 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P21730; propagated from UniProtKB/Swiss-Prot (P30993.2)" CDS 1..351 /gene="C5ar1" /gene_synonym="C5aR; C5r1; Cd88; D7Msu1" /coded_by="NM_001173550.1:192..1247" /db_xref="CCDS:CCDS20846.1" /db_xref="GeneID:12273" /db_xref="MGI:MGI:88232" ORIGIN 1 mdpidnssfe inydhygtmd pnipadgihl pkrqpgdvaa liiysvvflv gvpgnalvvw 61 vtafearrav naiwflnlav adllsclalp vlfttvlnhn ywyfdataci vlpslillnm 121 yasilllati sadrfllvfk piwcqkvrgt glawmacgva wvlallltip sfvyreaykd 181 fysehtvcgi nygggsfpke kavailrlmv gfvlplltln icytflllrt wsrkatrstk 241 tlkvvmavvi cffifwlpyq vtgvmiawlp pssptlkrve klnslcvsla yinccvnpii 301 yvmagqgfhg rllrslpsii rnalsedsvg rdsktftpst tdtstrksqa v // LOCUS NP_001396720 73 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3 [Mus musculus]. ACCESSION NP_001396720 VERSION NP_001396720.1 DBSOURCE REFSEQ: accession NM_001409791.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 73) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 73) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 73) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 73) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 73) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 73) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 73) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 73) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 73) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 73) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR14777531.545913.1, SRR17253011.1303612.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..73 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..73 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 3" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=7806 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 54 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 57 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" CDS 1..73 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001409791.1:335..556" /note="isoform 3 is encoded by transcript variant 7" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mnlfnldrfr fekrskieea peaapqpsqa rpsspislsa eeenaegegs rantpdsdvt 61 ektgsdfval alv // LOCUS NP_001300848 837 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 1 [Mus musculus]. ACCESSION NP_001300848 XP_006515540 VERSION NP_001300848.1 DBSOURCE REFSEQ: accession NM_001313919.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 837) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 837) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 837) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 837) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 837) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 837) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 837) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 837) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 837) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 837) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Sep 11, 2015 this sequence version replaced XP_006515540.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK034087.1, SRR9219383.41849.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..837 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..837 /product="hypoxia-inducible factor 1-alpha isoform 1" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=93528 Region 14..84 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(19..20,22..24,27..28,30..31,56..57) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Region 22..31 /region_name="DNA-binding. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site order(33..34,36..37,40..41,44..45,56..58,61..62,65,68..69, 72) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 94..149 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 171..192 /region_name="Required for heterodimer formation with ARNT. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 248 /site_type="phosphorylation" /note="Phosphoserine, by CK1. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 255..340 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(256,260,266,279..282,308,313) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(276,280,288,291..292,320,322) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 381..418 /region_name="N-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 402..614 /region_name="ODD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 403 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 493..512 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 545..589 /region_name="NTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 546 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 565..594 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:431874" Site 565 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 569 /site_type="phosphorylation" /note="Phosphothreonine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 570..586 /region_name="C-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 578 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 590..796 /region_name="ID" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 590 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 594..685 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 603 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 669 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 708..735 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 720 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 729..732 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 797..837 /region_name="CTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 800..836 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:430212" Site 814 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" CDS 1..837 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_001313919.2:290..2803" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 megaggenek knrmsserrk eksrdaarsr rskesevfye lahqlplphn vsshldkasv 61 mrltisylrv rklldaggld sedemkaqmd cfylkaldgf vmvltddgdm vyisdnvnky 121 mgltqfeltg hsvfdfthpc dheemremlt hrngpvrkgk elntqrsffl rmkctltsrg 181 rtmniksatw kvlhctghih vydtnsnqpq cgykkppmtc lvlicepiph psnieiplds 241 ktflsrhsld mkfsycderi telmgyepee llgrsiyeyy haldsdhltk thhdmftkgq 301 vttgqyrmla krggyvwvet qatviyntkn sqpqcivcvn yvvsgiiqhd lifslqqtes 361 vlkpvessdm kmtqlftkve sedtsclfdk lkkepdaltl lapaagdtii sldfgsddte 421 tedqqledvp lyndvmfpss neklninlam splpssetpk plrssadpal nqevalkles 481 speslglsft mpqiqdqpas psdgstrqss perllqenvn tpnfsqpnsp seycfdvdsd 541 mvnvfklelv eklfaedtea knpfstqdtd ldlemlapyi pmdddfqlrs fdqlsplesn 601 spsppsmstv tgfqqtqlqk ptitatattt attdesktet kdnkedikil iaspsstqvp 661 qetttakasa ysgthsrtas pdragkrvie qtdkahprsl nlsatlnqrn tvpeeelnpk 721 tiasqnaqrk rkmehdgslf qaagigtllq qpgdcaptms lswkrvkgfi sseqngteqk 781 tiilipsdla crllgqsmde sglpqltsyd cevnapiqgs rnllqgeell raldqvn // LOCUS NP_001343356 115 aa linear ROD 09-OCT-2023 DEFINITION pancreatic progenitor cell differentiation and proliferation factor isoform a [Mus musculus]. ACCESSION NP_001343356 XP_006500766 VERSION NP_001343356.1 DBSOURCE REFSEQ: accession NM_001356427.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 115) AUTHORS Wang YK, Ma N, Xu S, Huang JY, Ni QZ, Cao HJ, Zheng QW, Zhu B, Xia J, Zhang FK, Ding XF, Qiu XS, Chen TW, Wang K, Chen W, Li ZG, Cheng SQ, Xie D and Li JJ. TITLE PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1 JOURNAL Cell Rep 42 (4), 112340 (2023) PUBMED 37027301 REMARK GeneRIF: PPDPF suppresses the development of hepatocellular carcinoma through TRIM21-mediated ubiquitination of RIPK1. REFERENCE 2 (residues 1 to 115) AUTHORS Ni QZ, Zhu B, Ji Y, Zheng QW, Liang X, Ma N, Jiang H, Zhang FK, Shang YR, Wang YK, Xu S, Zhang EB, Yuan YM, Chen TW, Yin FF, Cao HJ, Huang JY, Xia J, Ding XF, Qiu XS, Ding K, Song C, Zhou WT, Wu M, Wang K, Lui R, Lin Q, Chen W, Li ZG, Cheng SQ, Wang XF, Xie D and Li JJ. TITLE PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1 JOURNAL Adv Sci (Weinh) 10 (2), e2202448 (2023) PUBMED 36453576 REMARK GeneRIF: PPDPF Promotes the Development of Mutant KRAS-Driven Pancreatic Ductal Adenocarcinoma by Regulating the GEF Activity of SOS1. REFERENCE 3 (residues 1 to 115) AUTHORS Zheng QW, Ni QZ, Zhu B, Liang X, Ma N, Wang YK, Xu S, Cao HJ, Xia J, Zhang FK, Zhang EB, Qiu XS, Ding XF, Qiu L, Zhang XL, Dong ZH, Li ZG, Zhang XL, Xie D and Li JJ. TITLE PPDPF promotes lung adenocarcinoma progression via inhibiting apoptosis and NK cell-mediated cytotoxicity through STAT3 JOURNAL Oncogene 41 (36), 4244-4256 (2022) PUBMED 35906391 REMARK Erratum:[Oncogene. 2023 Aug;42(35):2655-2656. PMID: 37491607] REFERENCE 4 (residues 1 to 115) AUTHORS Ma N, Wang YK, Xu S, Ni QZ, Zheng QW, Zhu B, Cao HJ, Jiang H, Zhang FK, Yuan YM, Zhang EB, Chen TW, Xia J, Ding XF, Chen ZH, Zhang XP, Wang K, Cheng SQ, Qiu L, Li ZG, Yu YC, Wang XF, Zhou B, Li JJ and Xie D. TITLE PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling JOURNAL Nat Commun 12 (1), 3059 (2021) PUBMED 34031390 REMARK GeneRIF: PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling. Publication Status: Online-Only REFERENCE 5 (residues 1 to 115) AUTHORS Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray SA. CONSRTM International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center TITLE High-throughput discovery of novel developmental phenotypes JOURNAL Nature 537 (7621), 508-514 (2016) PUBMED 27626380 REMARK Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450] REFERENCE 6 (residues 1 to 115) AUTHORS Lewandowski JP, Du F, Zhang S, Powell MB, Falkenstein KN, Ji H and Vokes SA. TITLE Spatiotemporal regulation of GLI target genes in the mammalian limb bud JOURNAL Dev Biol 406 (1), 92-103 (2015) PUBMED 26238476 REFERENCE 7 (residues 1 to 115) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL450341.10 and CB202960.1. On Oct 4, 2017 this sequence version replaced XP_006500766.1. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC100439.1, CK791036.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..115 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 103.62 cM" Protein 1..115 /product="pancreatic progenitor cell differentiation and proliferation factor isoform a" /note="exocrine differentiation and proliferation factor" /calculated_mol_wt=12129 Region 1..111 /region_name="PPDFL" /note="Differentiation and proliferation regulator; pfam15060" /db_xref="CDD:434428" Site 9 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H3Y8; propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" Region 21..46 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" Region 73..115 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9CR37.1)" CDS 1..115 /gene="Ppdpf" /gene_synonym="0610012G23Rik; 2610317A05Rik; 2700038C09Rik; 3110053G12Rik" /coded_by="NM_001356427.1:226..573" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS17202.1" /db_xref="GeneID:66496" /db_xref="MGI:MGI:1913746" ORIGIN 1 maaipssgsl vathdyyrrr lgsssssssg gsaeypgdav lqspglpkad pghwwasfff 61 gkstlpfmtt vlespersae spqvsrspmt cgltpetmkq qpvihsgqtn prdls // LOCUS NP_001390657 735 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 2 [Mus musculus]. ACCESSION NP_001390657 VERSION NP_001390657.1 DBSOURCE REFSEQ: accession NM_001403728.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 735) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 735) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 735) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 735) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 735) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 735) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 735) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 735) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 735) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 735) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422597.916665.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..735 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..735 /product="transcriptional repressor CTCF isoform 2" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83486 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(268,271,284,288) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(469,472,485,489) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 698..725 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..735 /gene="Ctcf" /coded_by="NM_001403728.1:743..2950" /note="isoform 2 is encoded by transcript variant 8" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dsenaepdld dneeeeepav eiepepepqp qpppppqpva papppakkrr 661 grppgrtnqp kqnqptaiiq vedqntgaie niivevkkep daepaegeee eaqaattdap 721 ngdltpemil smmdr // LOCUS NP_036120 502 aa linear ROD 09-OCT-2023 DEFINITION cystine/glutamate transporter [Mus musculus]. ACCESSION NP_036120 VERSION NP_036120.1 DBSOURCE REFSEQ: accession NM_011990.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 502) AUTHORS de Baat A, Meier DT, Rachid L, Fontana A, Boni-Schnetzler M and Donath MY. TITLE Cystine/glutamate antiporter System xc- deficiency impairs insulin secretion in mice JOURNAL Diabetologia 66 (11), 2062-2074 (2023) PUBMED 37650924 REFERENCE 2 (residues 1 to 502) AUTHORS Ruiu R, Cossu C, Iacoviello A, Conti L, Bolli E, Ponzone L, Magri J, Rumandla A, Calautti E and Cavallo F. TITLE Cystine/glutamate antiporter xCT deficiency reduces metastasis without impairing immune system function in breast cancer mouse models JOURNAL J Exp Clin Cancer Res 42 (1), 254 (2023) PUBMED 37770957 REMARK GeneRIF: Cystine/glutamate antiporter xCT deficiency reduces metastasis without impairing immune system function in breast cancer mouse models. Publication Status: Online-Only REFERENCE 3 (residues 1 to 502) AUTHORS Frare C, Pitt SK and Hewett SJ. TITLE Sex- and age-dependent contribution of System xc- to cognitive, sensory, and social behaviors revealed by comprehensive behavioral analyses of System xc- null mice JOURNAL Front Behav Neurosci 17, 1238349 (2023) PUBMED 37649973 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 502) AUTHORS Orlowska,K., Fling,R.R., Nault,R., Schilmiller,A.L. and Zacharewski,T.R. TITLE Cystine/Glutamate Xc- Antiporter Induction Compensates for Transsulfuration Pathway Repression by 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) to Ensure Cysteine for Hepatic Glutathione Biosynthesis JOURNAL Chem Res Toxicol 36 (6), 900-915 (2023) PUBMED 37184393 REMARK GeneRIF: Cystine/Glutamate Xc[-] Antiporter Induction Compensates for Transsulfuration Pathway Repression by 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) to Ensure Cysteine for Hepatic Glutathione Biosynthesis. REFERENCE 5 (residues 1 to 502) AUTHORS Zhang X, Zheng X, Ying X, Xie W, Yin Y and Wang X. TITLE CEBPG suppresses ferroptosis through transcriptional control of SLC7A11 in ovarian cancer JOURNAL J Transl Med 21 (1), 334 (2023) PUBMED 37210575 REMARK GeneRIF: CEBPG suppresses ferroptosis through transcriptional control of SLC7A11 in ovarian cancer. Publication Status: Online-Only REFERENCE 6 (residues 1 to 502) AUTHORS Sato H, Kuriyama-Matsumura K, Hashimoto T, Sasaki H, Wang H, Ishii T, Mann GE and Bannai S. TITLE Effect of oxygen on induction of the cystine transporter by bacterial lipopolysaccharide in mouse peritoneal macrophages JOURNAL J Biol Chem 276 (13), 10407-10412 (2001) PUBMED 11136724 REFERENCE 7 (residues 1 to 502) AUTHORS Sato H, Tamba M, Ishii T and Bannai S. TITLE Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins JOURNAL J Biol Chem 274 (17), 11455-11458 (1999) PUBMED 10206947 REFERENCE 8 (residues 1 to 502) AUTHORS Odorizzi G, Cowles CR and Emr SD. TITLE The AP-3 complex: a coat of many colours JOURNAL Trends Cell Biol 8 (7), 282-288 (1998) PUBMED 9714600 REMARK Review article REFERENCE 9 (residues 1 to 502) AUTHORS Swank RT, Novak EK, McGarry MP, Rusiniak ME and Feng L. TITLE Mouse models of Hermansky Pudlak syndrome: a review JOURNAL Pigment Cell Res 11 (2), 60-80 (1998) PUBMED 9585243 REMARK Review article REFERENCE 10 (residues 1 to 502) AUTHORS Swank RT, Reddington M and Novak EK. TITLE Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse JOURNAL Lab Anim Sci 46 (1), 56-60 (1996) PUBMED 8699821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB630675.1, AB022345.1 and AC101992.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY766236.1, BC141408.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..502 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="3" /map="3 21.72 cM" Protein 1..502 /product="cystine/glutamate transporter" /note="sodium independent anionic amino acid transport system; amino acid transport system xc-; cysteine/glutamate transporter; solute carrier family 7 member 11; subtle gray protein" /calculated_mol_wt=55325 Region 1..498 /region_name="2A0308" /note="L-type amino acid transporter; TIGR00911" /db_xref="CDD:273332" Site 26 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 44..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 75..95 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 131..150 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 164..179 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 194..210 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 235..255 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 266..286 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 318..338 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 365..385 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 388..408 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 423..443 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" Site 450..470 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9WTR6.1)" CDS 1..502 /gene="Slc7a11" /gene_synonym="9930009M05Rik; sut; xCT" /coded_by="NM_011990.2:353..1861" /db_xref="CCDS:CCDS17335.1" /db_xref="GeneID:26570" /db_xref="MGI:MGI:1347355" ORIGIN 1 mvrkpvvati skggylqgnm sgrlpsmgdq eppgqekvvl kkkitllrgv siiigtvigs 61 gifispkgil qntgsvgmsl vfwsacgvls lfgalsyael gtsikksggh ytyilevfgp 121 llafvrvwve llvirpgata vislafgryi lepffiqcei pelaiklvta vgitvvmvln 181 stsvswsari qifltfcklt ailiiivpgv iqlikgqthh fkdafsgrdt slmglplafy 241 ygmyayagwf ylnfiteevd npektiplai cismaiitvg yvltnvayft tisaeellqs 301 savavtfser llgkfslavp ifvalscfgs mnggvfavsr lfyvasregh lpeilsmihv 361 hkhtplpavi vlhpltmvml fsgdlyslln flsfarwlfm glavagliyl rykrpdmhrp 421 fkvplfipal fsftclfmvv lslysdpfst gvgflitltg vpayylfivw dkkpkwfrrl 481 sdritrtlqi ilevvpedsk el // LOCUS NP_059095 127 aa linear ROD 09-OCT-2023 DEFINITION fatty acid-binding protein, liver [Mus musculus]. ACCESSION NP_059095 VERSION NP_059095.1 DBSOURCE REFSEQ: accession NM_017399.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 127) AUTHORS You H, Wen X, Wang X, Zhu C, Chen H, Bu L, Zhang J and Qu S. TITLE Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1 JOURNAL Free Radic Biol Med 207, 260-271 (2023) PUBMED 37499886 REMARK GeneRIF: Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1. REFERENCE 2 (residues 1 to 127) AUTHORS Zinina VV, Sauer M, Nigmatullina L, Kreim N and Soshnikova N. TITLE TCF7L1 Controls the Differentiation of Tuft Cells in Mouse Small Intestine JOURNAL Cells 12 (11), 1452 (2023) PUBMED 37296573 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 127) AUTHORS Gajda AM, Tawfeeq HR, Lackey AI, Zhou YX, Kanaan H, Pappas A, Xu H, Kodukula S and Storch J. TITLE The proximal intestinal Fatty Acid-Binding Proteins liver FABP (LFABP) and intestinal FABP (IFABP) differentially modulate whole body energy homeostasis but are not centrally involved in net dietary lipid absorption: Studies of the LFABP/IFABP double knockout mouse JOURNAL Biochim Biophys Acta Mol Cell Biol Lipids 1868 (1), 159238 (2023) PUBMED 36206853 REMARK GeneRIF: The proximal intestinal Fatty Acid-Binding Proteins liver FABP (LFABP) and intestinal FABP (IFABP) differentially modulate whole body energy homeostasis but are not centrally involved in net dietary lipid absorption: Studies of the LFABP/IFABP double knockout mouse. REFERENCE 4 (residues 1 to 127) AUTHORS Salazar-Petres E, Pereira-Carvalho D, Lopez-Tello J and Sferruzzi-Perri AN. TITLE Placental structure, function, and mitochondrial phenotype relate to fetal size in each fetal sex in micedagger JOURNAL Biol Reprod 106 (6), 1292-1311 (2022) PUBMED 35293971 REFERENCE 5 (residues 1 to 127) AUTHORS Kawakami R, Matsui M, Konno A, Kaneko R, Shrestha S, Shrestha S, Sunaga H, Hanaoka H, Goto S, Hosojima M, Kabasawa H, Obokata M, Koitabashi N, Matsui H, Sasaki T, Saito A, Yanagita M, Hirai H, Kurabayashi M and Iso T. TITLE Urinary FABP1 is a biomarker for impaired proximal tubular protein reabsorption and is synergistically enhanced by concurrent liver injury JOURNAL J Pathol 255 (4), 362-373 (2021) PUBMED 34370295 REFERENCE 6 (residues 1 to 127) AUTHORS Mallordy A, Poirier H, Besnard P, Niot I and Carlier H. TITLE Evidence for transcriptional induction of the liver fatty-acid-binding-protein gene by bezafibrate in the small intestine JOURNAL Eur J Biochem 227 (3), 801-807 (1995) PUBMED 7867641 REFERENCE 7 (residues 1 to 127) AUTHORS Serikawa T, Kuramoto T, Hilbert P, Mori M, Yamada J, Dubay CJ, Lindpainter K, Ganten D, Guenet JL, Lathrop GM et al. TITLE Rat gene mapping using PCR-analyzed microsatellites JOURNAL Genetics 131 (3), 701-721 (1992) PUBMED 1628813 REFERENCE 8 (residues 1 to 127) AUTHORS Norman DJ, Fletcher C and Heintz N. TITLE Genetic mapping of the lurcher locus on mouse chromosome 6 using an intersubspecific backcross JOURNAL Genomics 9 (1), 147-153 (1991) PUBMED 1672287 REFERENCE 9 (residues 1 to 127) AUTHORS Bansal MP, Cook RG, Danielson KG and Medina D. TITLE A 14-kilodalton selenium-binding protein in mouse liver is fatty acid-binding protein JOURNAL J Biol Chem 264 (23), 13780-13784 (1989) PUBMED 2760043 REFERENCE 10 (residues 1 to 127) AUTHORS Sweetser DA, Birkenmeier EH, Klisak IJ, Zollman S, Sparkes RS, Mohandas T, Lusis AJ and Gordon JI. TITLE The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships JOURNAL J Biol Chem 262 (33), 16060-16071 (1987) PUBMED 2824476 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK131868.1 and AW113370.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BY105254.1, CD297710.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..127 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 32.14 cM" Protein 1..127 /product="fatty acid-binding protein, liver" /note="fatty acid-binding protein 1; 14 kDa selenium-binding protein; liver-type fatty acid-binding protein" /calculated_mol_wt=14114 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P80425; propagated from UniProtKB/Swiss-Prot (P12710.2)" Region 2..127 /region_name="FABP1" /note="fatty acid-binding protein 1; cd19444" /db_xref="CDD:381219" Site order(3,15,18..19,22,28..29,31..32,35,37,39,41,48,50,52, 54..57,59,61,63,71..74,91,93,100,102,109,111,113,122,124) /site_type="other" /note="ligand binding cavity [chemical binding]" /db_xref="CDD:381219" Site 11 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P12710.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P02692; propagated from UniProtKB/Swiss-Prot (P12710.2)" Site 51 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P07148; propagated from UniProtKB/Swiss-Prot (P12710.2)" Site 84 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P12710.2)" Site 100 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P12710.2)" CDS 1..127 /gene="Fabp1" /gene_synonym="Fabpl; L-FABP" /coded_by="NM_017399.5:49..432" /db_xref="CCDS:CCDS20226.1" /db_xref="GeneID:14080" /db_xref="MGI:MGI:95479" ORIGIN 1 mnfsgkyqlq sqenfepfmk aiglpedliq kgkdikgvse ivhegkkikl titygpkvvr 61 neftlgeece letmtgekvk avvklegdnk mvttfkgiks vtelngdtit ntmtlgdivy 121 krvskri // LOCUS NP_001277312 680 aa linear ROD 09-OCT-2023 DEFINITION epithelial splicing regulatory protein 1 isoform 2 [Mus musculus]. ACCESSION NP_001277312 XP_006537777 VERSION NP_001277312.1 DBSOURCE REFSEQ: accession NM_001290383.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 680) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 2 (residues 1 to 680) AUTHORS Zhao Y, Li M, Wu W, Miao W and Liu H. TITLE Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization JOURNAL Front Immunol 14, 1161273 (2023) PUBMED 37090731 REMARK GeneRIF: Downregulated ESRP1/2 promotes lung metastasis of bladder carcinoma through altering FGFR2 splicing and macrophage polarization. Publication Status: Online-Only REFERENCE 3 (residues 1 to 680) AUTHORS Peart NJ, Hwang JY, Quesnel-Vallieres M, Sears MJ, Yang Y, Stoilov P, Barash Y, Park JW, Lynch KW and Carstens RP. TITLE The global Protein-RNA interaction map of ESRP1 defines a post-transcriptional program that is essential for epithelial cell function JOURNAL iScience 25 (10), 105205 (2022) PUBMED 36238894 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 680) AUTHORS Spruce T, Plass M, Gohr A, Ray D, Martinez de Lagran M, Rot G, Novoa A, Burguera D, Permanyer J, Miret M, Zheng H, Swanson MS, Morris Q, Mallo M, Dierssen M, Hughes TR, Pernaute B and Irimia M. TITLE The X-linked splicing regulator MBNL3 has been co-opted to restrict placental growth in eutherians JOURNAL PLoS Biol 20 (4), e3001615 (2022) PUBMED 35476669 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 680) AUTHORS Yu L, Zhang H, Guan X, Qin D, Zhou J and Wu X. TITLE Loss of ESRP1 blocks mouse oocyte development and leads to female infertility JOURNAL Development 148 (2) (2021) PUBMED 33318146 REMARK GeneRIF: Loss of ESRP1 blocks mouse oocyte development and leads to female infertility. Publication Status: Online-Only REFERENCE 6 (residues 1 to 680) AUTHORS Warzecha CC, Sato TK, Nabet B, Hogenesch JB and Carstens RP. TITLE ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing JOURNAL Mol Cell 33 (5), 591-601 (2009) PUBMED 19285943 REMARK GeneRIF: Epithelial splicing regulatory proteins 1/2 (ESRP1/2) are epithelial cell-type-specific regulators of FGFR2 splicing. REFERENCE 7 (residues 1 to 680) AUTHORS Sherwood RI, Jitianu C, Cleaver O, Shaywitz DA, Lamenzo JO, Chen AE, Golub TR and Melton DA. TITLE Prospective isolation and global gene expression analysis of definitive and visceral endoderm JOURNAL Dev Biol 304 (2), 541-555 (2007) PUBMED 17328885 REFERENCE 8 (residues 1 to 680) AUTHORS Evsikov AV, Graber JH, Brockman JM, Hampl A, Holbrook AE, Singh P, Eppig JJ, Solter D and Knowles BB. TITLE Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo JOURNAL Genes Dev 20 (19), 2713-2727 (2006) PUBMED 17015433 REFERENCE 9 (residues 1 to 680) AUTHORS McKee AE, Minet E, Stern C, Riahi S, Stiles CD and Silver PA. TITLE A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain JOURNAL BMC Dev Biol 5, 14 (2005) PUBMED 16033648 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 680) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK140848.1, CJ081693.1, DV654302.1, DV657411.1, DV648780.1 and AA647208.1. On Mar 12, 2014 this sequence version replaced XP_006537777.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK140848.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..680 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 5.11 cM" Protein 1..680 /product="epithelial splicing regulatory protein 1 isoform 2" /note="RNA binding motif protein 35A" /calculated_mol_wt=75419 Region 29..>145 /region_name="DnaQ_like_exo" /note="DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily; cl10012" /db_xref="CDD:447876" Region 216..307 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" Region 309..418 /region_name="RRM2_ESRP1" /note="RNA recognition motif 2 (RRM2) found in epithelial splicing regulatory protein 1 (ESRP1) and similar proteins; cd12739" /db_xref="CDD:410136" Region 443..523 /region_name="RRM3_ESRP1_ESRP2" /note="RNA recognition motif 3 (RRM3) found in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins; cd12742" /db_xref="CDD:410138" Site 542 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H6T0; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" Site 581 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0000250|UniProtKB:Q6NXG1; propagated from UniProtKB/Swiss-Prot (Q3US41.2)" Region 632..>671 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..680 /gene="Esrp1" /gene_synonym="2210008M09Rik; A630065D16; Rbm35a" /coded_by="NM_001290383.1:348..2390" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:207920" /db_xref="MGI:MGI:1917326" ORIGIN 1 mtaspdylvv lfgitagatg aklgsdekel illlwkvvdl ankkvgqlhe vlvrpdqlel 61 tedckeetki daenlssapq ldqalrqfnq svsnelnigv gtsfclctdg qlhirqilhp 121 easkknvllp ecfysffdlr kefkkccpgs pdidkldvaa mteslnfeks dsvsrygasq 181 vedmgniila misepynhrf sdpervnykf esgtckmeli ddstvvrarg lpwqssdqdi 241 arffkglnia kggaalclna qgrrngealv rfvseehrdl alqrhkhhmg tryievykat 301 gedflkiagg tsnevaqfls kenqvivrmr glpftataee vvaffgqhcp itggkegilf 361 vtypdgrptg dafvlfacee yaqnalrkhk ellgkryiel frstaaevqq vlnrfssapl 421 iplptppiip vlpqqfvppt nvrdcirlrg lpyaatiedi ldflgefstd irthgvhmvl 481 nhqgrpsgda fiqmkstdra fmaaqkyhkk tmkdryvevf qcsaeemnfv lmggtlnrng 541 lspppcklpc lsppsytfpa ptavipteaa iyqpslllnp ralqpstayy pagtqlfmny 601 tayypsppgs pnslgyfpta anlssvppqp gtvvrmqgla yntgvkeiln ffqgyqyate 661 dglvhtndqa rtlpkewvci // LOCUS NP_001157103 764 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 1 [Mus musculus]. ACCESSION NP_001157103 VERSION NP_001157103.1 DBSOURCE REFSEQ: accession NM_001163631.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 764) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 764) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 764) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 764) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 764) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 764) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 764) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 764) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 764) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 764) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB611616.1, AK134040.1, AK037740.1, AK081385.1, AC131975.28 and AW045567.1. Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.150381.1, SRR7974084.10596.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..764 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..764 /product="DNA-binding protein SATB1 isoform 1" /note="DNA-binding protein Satb1" /calculated_mol_wt=85749 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 591..650 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 638 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 645..702 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(647..650,652,670,676,689,691..692,695..696,698..700, 702..703) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(648,651,692,695..696,699) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..764 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001163631.1:190..2484" /note="isoform 1 is encoded by transcript variant 3" /db_xref="CCDS:CCDS28876.1" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqqppp pppqpqpqpq agprlpprqp tvassaesde enrqktrprt kisvealgil 661 qsfiqdvgly pdeeaiqtls aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey 721 kdeellkdle esvqdknant lfsvkleeel svegstdvna dlkd // LOCUS NP_082742 317 aa linear ROD 09-OCT-2023 DEFINITION guanine nucleotide exchange factor C9orf72 homolog isoform 2 [Mus musculus]. ACCESSION NP_082742 VERSION NP_082742.2 DBSOURCE REFSEQ: accession NM_028466.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 317) AUTHORS Hendricks E, Quihuis AM, Hung ST, Chang J, Dorjsuren N, Der B, Staats KA, Shi Y, Sta Maria NS, Jacobs RE and Ichida JK. TITLE The C9ORF72 repeat expansion alters neurodevelopment JOURNAL Cell Rep 42 (8), 112983 (2023) PUBMED 37590144 REMARK GeneRIF: The C9ORF72 repeat expansion alters neurodevelopment. REFERENCE 2 (residues 1 to 317) AUTHORS Pang W and Hu F. TITLE C9ORF72 suppresses JAK-STAT mediated inflammation JOURNAL iScience 26 (5), 106579 (2023) PUBMED 37250330 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 317) AUTHORS He L, Liang J, Chen C, Chen J, Shen Y, Sun S and Li L. TITLE C9orf72 functions in the nucleus to regulate DNA damage repair JOURNAL Cell Death Differ 30 (3), 716-730 (2023) PUBMED 36220889 REMARK GeneRIF: C9orf72 functions in the nucleus to regulate DNA damage repair. REFERENCE 4 (residues 1 to 317) AUTHORS Shu X, Wei C, Tu WY, Zhong K, Qi S, Wang A, Bai L, Zhang SX, Luo B, Xu ZZ, Zhang K and Shen C. TITLE Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome JOURNAL Cell Rep 42 (2), 112133 (2023) PUBMED 36800288 REMARK GeneRIF: Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome. REFERENCE 5 (residues 1 to 317) AUTHORS Liu Y, Xing H, Ernst AF, Liu C, Maugee C, Yokoi F, Lakshmana M and Li Y. TITLE Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice JOURNAL Mol Cell Neurosci 121, 103756 (2022) PUBMED 35843530 REMARK GeneRIF: Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice. REFERENCE 6 (residues 1 to 317) AUTHORS Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD and Petrucelli L. TITLE Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits JOURNAL Science 348 (6239), 1151-1154 (2015) PUBMED 25977373 REFERENCE 7 (residues 1 to 317) AUTHORS Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE and Atkin JD. TITLE C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking JOURNAL Hum Mol Genet 23 (13), 3579-3595 (2014) PUBMED 24549040 REMARK Erratum:[Hum Mol Genet. 2017 Oct 15;26(20):4093-4094. PMID: 28973528] REFERENCE 8 (residues 1 to 317) AUTHORS Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R, Davis-Dusenbery BN and Eggan K. TITLE The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD JOURNAL Nat Neurosci 16 (12), 1725-1727 (2013) PUBMED 24185425 REFERENCE 9 (residues 1 to 317) AUTHORS Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW and Ravits J. TITLE Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration JOURNAL Proc Natl Acad Sci U S A 110 (47), E4530-E4539 (2013) PUBMED 24170860 REFERENCE 10 (residues 1 to 317) AUTHORS Panda SK, Wefers B, Ortiz O, Floss T, Schmid B, Haass C, Wurst W and Kuhn R. TITLE Highly efficient targeted mutagenesis in mice using TALENs JOURNAL Genetics 195 (3), 703-713 (2013) PUBMED 23979585 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL831776.3, AK014175.1 and BQ177018.1. On May 4, 2018 this sequence version replaced NP_082742.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK014175.1, BY713146.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN00849381, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..317 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 17.13 cM" Protein 1..317 /product="guanine nucleotide exchange factor C9orf72 homolog isoform 2" /note="protein C9orf72 homolog; guanine nucleotide exchange C9orf72 homolog; guanine nucleotide exchange factor C9orf72 homolog" /calculated_mol_wt=35759 Region <12..160 /region_name="C9orf72-like" /note="C9orf72-like protein family; pfam15019" /db_xref="CDD:434396" CDS 1..317 /gene="C9orf72" /gene_synonym="3110043O21Rik; Dennd9" /coded_by="NM_028466.2:98..1051" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS89726.1" /db_xref="GeneID:73205" /db_xref="MGI:MGI:1920455" ORIGIN 1 medqgqsiip mltgevipvm ellasmkshs vpedidiadt vlndddigds chegfllnai 61 sshlqtcgcs vvvgssaekv nkivrtlclf ltpaerkcsr lceaessfky esglfvqgll 121 kdatgsfvlp frqvmyapyp tthidvdvnt vkqmppcheh iynqrrymrs eltafwrats 181 eedmaqdtii ytdesftpdl nifqdvlhrd tlvkafldqv fhlkpglslr stflaqflli 241 lhrkaltlik yieddtqkgk kpfkslrnlk idldltaegd lniimalaek ikpglhsfif 301 grpfytsvqe rdvlmtf // LOCUS NP_444346 364 aa linear ROD 09-OCT-2023 DEFINITION protein Wnt-16 precursor [Mus musculus]. ACCESSION NP_444346 VERSION NP_444346.3 DBSOURCE REFSEQ: accession NM_053116.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 364) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 2 (residues 1 to 364) AUTHORS Cai S, Si N, Wang Y and Yin N. TITLE Transcriptomic analysis of the upper lip and primary palate development in mice JOURNAL Front Genet 13, 1039850 (2023) PUBMED 36685938 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 364) AUTHORS Simonson L, Oldham E and Chang H. TITLE Overactive Wnt5a signaling disrupts hair follicle polarity during mouse skin development JOURNAL Development 149 (22) (2022) PUBMED 36305473 REFERENCE 4 (residues 1 to 364) AUTHORS Tornqvist AE, Nilsson KH, Li L, Ohlsson C and Moverare-Skrtic S. TITLE Induced inactivation of Wnt16 in young adult mice has no impact on osteoarthritis development JOURNAL PLoS One 17 (11), e0277495 (2022) PUBMED 36367882 REMARK GeneRIF: Induced inactivation of Wnt16 in young adult mice has no impact on osteoarthritis development. Publication Status: Online-Only REFERENCE 5 (residues 1 to 364) AUTHORS Murphy P, Armit C, Hill B, Venkataraman S, Frankel P, Baldock RA and Davidson DR. TITLE Integrated analysis of Wnt signalling system component gene expression JOURNAL Development 149 (16) (2022) PUBMED 35831952 REFERENCE 6 (residues 1 to 364) AUTHORS Chu EY, Hens J, Andl T, Kairo A, Yamaguchi TP, Brisken C, Glick A, Wysolmerski JJ and Millar SE. TITLE Canonical WNT signaling promotes mammary placode development and is essential for initiation of mammary gland morphogenesis JOURNAL Development 131 (19), 4819-4829 (2004) PUBMED 15342465 REFERENCE 7 (residues 1 to 364) AUTHORS Heller RS, Dichmann DS, Jensen J, Miller C, Wong G, Madsen OD and Serup P. TITLE Expression patterns of Wnts, Frizzleds, sFRPs, and misexpression in transgenic mice suggesting a role for Wnts in pancreas and foregut pattern formation JOURNAL Dev Dyn 225 (3), 260-270 (2002) PUBMED 12412008 REFERENCE 8 (residues 1 to 364) AUTHORS Weidenfeld J, Shu W, Zhang L, Millar SE and Morrisey EE. TITLE The WNT7b promoter is regulated by TTF-1, GATA6, and Foxa2 in lung epithelium JOURNAL J Biol Chem 277 (23), 21061-21070 (2002) PUBMED 11914369 REFERENCE 9 (residues 1 to 364) AUTHORS Reddy S, Andl T, Bagasra A, Lu MM, Epstein DJ, Morrisey EE and Millar SE. TITLE Characterization of Wnt gene expression in developing and postnatal hair follicles and identification of Wnt5a as a target of Sonic hedgehog in hair follicle morphogenesis JOURNAL Mech Dev 107 (1-2), 69-82 (2001) PUBMED 11520664 REFERENCE 10 (residues 1 to 364) AUTHORS McWhirter JR, Neuteboom ST, Wancewicz EV, Monia BP, Downing JR and Murre C. TITLE Oncogenic homeodomain transcription factor E2A-Pbx1 activates a novel WNT gene in pre-B acute lymphoblastoid leukemia JOURNAL Proc Natl Acad Sci U S A 96 (20), 11464-11469 (1999) PUBMED 10500199 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK053805.1, BC115925.1 and AK054110.1. On Aug 8, 2009 this sequence version replaced NP_444346.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK054110.1, BC115811.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..364 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 9.22 cM" Protein 1..364 /product="protein Wnt-16 precursor" /note="protein Wnt-16; wingless-related MMTV integration site 16" /calculated_mol_wt=37790 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2956 Region 52..364 /region_name="Wnt_Wnt16" /note="Wnt domain found in protein Wnt-16 and similar proteins; cd19344" /db_xref="CDD:381718" Site 142 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9QYS1.2)" Site 188 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9QYS1.2)" Site order(221..222,225..227,235,343,345,347,349) /site_type="other" /note="Frizzled receptor binding site [polypeptide binding]" /db_xref="CDD:381718" Site 310 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9QYS1.2)" CDS 1..364 /gene="Wnt16" /gene_synonym="E130309I19Rik" /coded_by="NM_053116.4:281..1375" /db_xref="CCDS:CCDS19936.1" /db_xref="GeneID:93735" /db_xref="MGI:MGI:2136018" ORIGIN 1 mdraallalp slcalwaavl sllpcgtqgn wmwlgiasfg vpeklgcadl plnsrqkelc 61 krkpyllpsi regarlgiqe crsqfrherw ncmvatttst qlataplfgy elssgtketa 121 fiyaimaagl vhsvtrscsa gnmtecscdt tlqnggspse gwhwggcsdd vqygmwfsrk 181 fldlpirntt gkesrvllam nlhnneagrq avaklmsvdc rchgvsgsca vktcwktmss 241 fekighflkd kyensiqisd ktkrkmrrre kdqrqtpilk ddllyvhksp nycvenkklg 301 ipgtqgrecn rtsggadgcn llccgrgynt hvvrhverce ckfiwccyvr crrcesmtdv 361 htck // LOCUS NP_001390652 736 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 1 [Mus musculus]. ACCESSION NP_001390652 VERSION NP_001390652.1 DBSOURCE REFSEQ: accession NM_001403723.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 736) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 736) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 736) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 736) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 736) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 736) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 736) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 736) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 736) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 736) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.2015337.1, SRR10662773.396646.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..736 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..736 /product="transcriptional repressor CTCF isoform 1" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83615 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 573..686 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 699..726 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..736 /gene="Ctcf" /coded_by="NM_001403723.1:496..2706" /note="isoform 1 is encoded by transcript variant 3" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqptaii qvedqntgai eniivevkke pdaepaegee eeaqaattda 721 pngdltpemi lsmmdr // LOCUS NP_001278105 473 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform h [Mus musculus]. ACCESSION NP_001278105 VERSION NP_001278105.1 DBSOURCE REFSEQ: accession NM_001291176.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 473) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 473) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 473) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 473) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 473) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 473) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 473) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 473) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 473) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 473) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887586.1 and BP757417.1. Transcript Variant: This variant (13, also known as IB-deltaII-Xa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (h) is shorter at at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 8 and 13 encode isoform h. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887586.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..473 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..473 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform h" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=52180 Region <1..124 /region_name="RHD-n" /note="N-terminal sub-domain of the Rel homology domain (RHD); cl08275" /db_xref="CDD:447596" Region 129..229 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(153,217) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..473 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291176.1:489..1910" /note="isoform h is encoded by transcript variant 13" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv leiplepknn 61 mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv slqaasnpie 121 csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg qqiwemeatv 181 dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv paiktepsde 241 yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp daryqqqspa 301 aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst lphtssasqq 361 aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls pgayptviqq 421 qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtyldde lidthlswiq nil // LOCUS NP_001341978 509 aa linear ROD 09-OCT-2023 DEFINITION activin receptor type-1 precursor [Mus musculus]. ACCESSION NP_001341978 XP_017170494 VERSION NP_001341978.1 DBSOURCE REFSEQ: accession NM_001355049.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 509) AUTHORS Yang YS, Lin C, Ma H, Xie J, Kaplan FS, Gao G and Shim JH. TITLE AAV-Mediated Targeting of the Activin A-ACVR1R206H Signaling in Fibrodysplasia Ossificans Progressiva JOURNAL Biomolecules 13 (9), 1364 (2023) PUBMED 37759764 REMARK GeneRIF: AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva. Publication Status: Online-Only REFERENCE 2 (residues 1 to 509) AUTHORS Yamaguchi H, Shen J, Little DR, Li M, Sozen S, Suzuki K, Mishina Y and Komatsu Y. TITLE Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation JOURNAL Biochem Biophys Res Commun 629, 101-105 (2022) PUBMED 36116371 REMARK GeneRIF: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation. REFERENCE 3 (residues 1 to 509) AUTHORS Yamamoto M, Stoessel SJ, Yamamoto S and Goldhamer DJ. TITLE Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification JOURNAL J Bone Miner Res 37 (11), 2077-2093 (2022) PUBMED 35637634 REMARK GeneRIF: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification. REFERENCE 4 (residues 1 to 509) AUTHORS Lees-Shepard JB, Stoessel SJ, Chandler JT, Bouchard K, Bento P, Apuzzo LN, Devarakonda PM, Hunter JW and Goldhamer DJ. TITLE An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice JOURNAL J Clin Invest 132 (12) (2022) PUBMED 35503416 REFERENCE 5 (residues 1 to 509) AUTHORS Chen HY, Hu Y, Xu XB, Zhou YA, Li NS, He C, Xie C, Lu NH and Zhu Y. TITLE Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2 JOURNAL Helicobacter 26 (6), e12849 (2021) PUBMED 34490965 REMARK GeneRIF: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2. REFERENCE 6 (residues 1 to 509) AUTHORS Schmitt J, Mielke R and Schrewe H. TITLE Genomic organization of a mouse type I activin receptor JOURNAL Biochem Biophys Res Commun 213 (1), 211-217 (1995) PUBMED 7639738 REFERENCE 7 (residues 1 to 509) AUTHORS Verschueren K, Dewulf N, Goumans MJ, Lonnoy O, Feijen A, Grimsby S, Vandi Spiegle K, ten Dijke P, Moren A, Vanscheeuwijck P, Heldin CH, Miyazono K, Mummery C, Van Den Eijnden-Van Raaij J and Huylebroeck D. TITLE Expression of type I and type IB receptors for activin in midgestation mouse embryos suggests distinct functions in organogenesis JOURNAL Mech Dev 52 (1), 109-123 (1995) PUBMED 7577669 REFERENCE 8 (residues 1 to 509) AUTHORS Roelen BA, Lin HY, Knezevic V, Freund E and Mummery CL. TITLE Expression of TGF-beta s and their receptors during implantation and organogenesis of the mouse embryo JOURNAL Dev Biol 166 (2), 716-728 (1994) PUBMED 7813789 REFERENCE 9 (residues 1 to 509) AUTHORS Nakamura T, Sugino K, Kurosawa N, Sawai M, Takio K, Eto Y, Iwashita S, Muramatsu M, Titani K and Sugino H. TITLE Isolation and characterization of activin receptor from mouse embryonal carcinoma cells. Identification of its serine/threonine/tyrosine protein kinase activity JOURNAL J Biol Chem 267 (26), 18924-18928 (1992) PUBMED 1326537 REFERENCE 10 (residues 1 to 509) AUTHORS Mathews LS and Vale WW. TITLE Expression cloning of an activin receptor, a predicted transmembrane serine kinase JOURNAL Cell 65 (6), 973-982 (1991) PUBMED 1646080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL732468.10 and AL807788.9. On Sep 6, 2017 this sequence version replaced XP_017170494.1. Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.68366.1, SRR1660811.243143.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..509 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 33.05 cM" Protein 1..509 /product="activin receptor type-1 precursor" /EC_number="2.7.11.30" /note="activin receptor type-1; TSR-I; TSK-7L; activin receptor type I; TGF-B superfamily receptor type I; serine/threonine-protein kinase receptor R1" /calculated_mol_wt=55077 sig_peptide 1..20 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=2167 mat_peptide 21..509 /product="Activin receptor type-1. /id=PRO_0000024395" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" /calculated_mol_wt=55077 Region 33..103 /region_name="Activin_recp" /note="Activin types I and II receptor domain; pfam01064" /db_xref="CDD:426025" Site 102 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P37172.2)" Site 124..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P37172.2)" Region 179..206 /region_name="TGF_beta_GS" /note="Transforming growth factor beta type I GS-motif; pfam08515" /db_xref="CDD:430045" Region 202..499 /region_name="STKc_ACVR1_ALK1" /note="Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1; cd14142" /db_xref="CDD:271044" Site order(202..203,206..207,245..246,249..250,253..254,268, 270) /site_type="other" /note="FKBP12 binding site [polypeptide binding]" /db_xref="CDD:271044" Site order(214..218,222,233,235,263,283..286,290,292,336,338, 340..341,343,354,357,377..380) /site_type="active" /db_xref="CDD:271044" Site order(214..220,222,233,235,283..284,286,290,340..341,343, 354) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271044" Site order(218,290,292,336,338,340,357,377..380) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271044" Site 353..380 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271044" Site 501 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q04771; propagated from UniProtKB/Swiss-Prot (P37172.2)" CDS 1..509 /gene="Acvr1" /gene_synonym="ActR-I; ActRIA; Acvr; Acvr1a; Acvrlk2; Alk-2; ALK2; Alk8; D330013D15Rik; SKR1; Tsk7L" /coded_by="NM_001355049.1:515..2044" /db_xref="CCDS:CCDS16050.1" /db_xref="GeneID:11477" /db_xref="MGI:MGI:87911" ORIGIN 1 mvdgvmilpv lmmmafpsps vedekpkvnq klymcvcegl scgnedhceg qqcfsslsin 61 dgfhvyqkgc fqvyeqgkmt cktppspgqa veccqgdwcn rnitaqlptk gksfpgtqnf 121 hlevgliils vvfavcllac ilgvalrkfk rrnqerlnpr dveygtiegl ittnvgdstl 181 aelldhscts gsgsglpflv qrtvarqitl lecvgkgryg evwrgswqge nvavkifssr 241 dekswfrete lyntvmlrhe nilgfiasdm tsrhsstqlw lithyhemgs lydylqlttl 301 dtvsclrivl siasglahlh ieifgtqgks aiahrdlksk nilvkkngqc ciadlglavm 361 hsqstnqldv gnnprvgtkr ymapevldet iqvdcfdsyk rvdiwafglv lwevarrmvs 421 ngivedykpp fydvvpndps fedmrkvvcv dqqrpnipnr wfsdptltsl aklmkecwyq 481 npsarltalr ikktltkidn sldklktdc // LOCUS NP_001342179 1021 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1 [Mus musculus]. ACCESSION NP_001342179 XP_006505572 VERSION NP_001342179.1 DBSOURCE REFSEQ: accession NM_001355250.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1021) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1021) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1021) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 1021) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1021) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1021) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 1021) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 1021) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 1021) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 1021) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4 and AC143330.4. On Sep 13, 2017 this sequence version replaced XP_006505572.1. Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 5 encode the same protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13948564.3258052.1, SRR17253012.4251560.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1021 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..1021 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=116321 Region 1..82 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 54 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 57 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 79 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 124..151 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 124 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 127 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 132 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 144 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 145 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 151 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 201..246 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 210 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 213 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 235 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 238 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 298 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 329..366 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 471..>993 /region_name="PLN03142" /note="Probable chromatin-remodeling complex ATPase chain; Provisional" /db_xref="CDD:215601" Region 492..674 /region_name="DEXHc_SMARCAD1" /note="DEXH-box helicase domain of SMARCAD1; cd17998" /db_xref="CDD:350756" Site order(519..525,558,623..624) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350756" Region 623..626 /region_name="DEGH box" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 716..733 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 1000..1003 /region_name="DEAD box" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" CDS 1..1021 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001355250.2:176..3241" /note="isoform 1 is encoded by transcript variant 5" /db_xref="CCDS:CCDS20204.1" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mnlfnldrfr fekrskieea peaapqpsqa rpsspislsa eeenaegegs rantpdsdvt 61 ektedssvpe ppdnerkasl scfqnqraiq eyidlssdte dvspncsstv qekkfskdtv 121 iivsepsede eshdlpsvtr rndsseledl seledlkdak lqtlkelfpq rsdsdllkli 181 eststmdgai aaallmfgda gggprkrkls ssseeddvnd dqsvkqprgd rgeesnesae 241 assnwekqes ivlklqkefp nfdkqelrev lkehewmyte aleslkvfae dqdvqcasqs 301 evtngkevar nqnysknatk ikmkqkisvk pqngfnkkrk knvfnpkkav edseydsgsd 361 agssldedys sceevmedgy kgkilhflqv ssiaeltlip kcsqkkaqki telrpfnnwe 421 alftkmskin glsedliwnc ktviqerdvv irlmnkcedi snkltkqvtm ltgngggwnr 481 eqpsllnqsl slkpyqkvgl nwlalvhkhg lngilademg lgktiqaiaf laylfqegnk 541 gphlivvpas tidnwlrevn lwcpslnvlc yygsqeerkq irfnihnkye dynvivttyn 601 caisssddrs lfrrlklnya ifdeghmlkn mgsiryqhlm tinarnrlll tgtpvqnnll 661 elmsllnfvm phmfssstse irrmfssktk padeqsiyek eriahakqii kpfilrrvke 721 evlkllppkk drielcamse kqeqlysglf nrlkksinnl ekntemcnvm mqlrkmanhp 781 llhrqyytpe klkemsqlml kepthceanp dlifedmevm tdfelhvlck qyqhinsyql 841 dmdlildsgk fralgcilse lkqkgdrvvl fsqftmmldi levllkhhqh rylrldgktq 901 iserihlide fntdmdifvf llstkagglg inltsanvvi lhdidcnpyn dkqaedrchr 961 vgqtkevlvi klisqgtiee smlkinqqkl kleqdmttvd eadegsmpad iatllktsmg 1021 l // LOCUS NP_001348430 147 aa linear ROD 09-OCT-2023 DEFINITION allograft inflammatory factor 1 isoform a [Mus musculus]. ACCESSION NP_001348430 XP_006523567 VERSION NP_001348430.1 DBSOURCE REFSEQ: accession NM_001361501.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 147) AUTHORS Altounian M, Bellon A and Mann F. TITLE Neuronal miR-17-5p contributes to interhemispheric cortical connectivity defects induced by prenatal alcohol exposure JOURNAL Cell Rep 42 (9), 113020 (2023) PUBMED 37610874 REFERENCE 2 (residues 1 to 147) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 3 (residues 1 to 147) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 147) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 147) AUTHORS Waldhauser V, Baroti T, Frob F and Wegner M. TITLE PBAF Subunit Pbrm1 Selectively Influences the Transition from Progenitors to Pre-Myelinating Cells during Oligodendrocyte Development JOURNAL Cells 12 (12), 1556 (2023) PUBMED 37371026 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 147) AUTHORS Sasaki Y, Ohsawa K, Kanazawa H, Kohsaka S and Imai Y. TITLE Iba1 is an actin-cross-linking protein in macrophages/microglia JOURNAL Biochem Biophys Res Commun 286 (2), 292-297 (2001) PUBMED 11500035 REFERENCE 7 (residues 1 to 147) AUTHORS Ohsawa K, Imai Y, Kanazawa H, Sasaki Y and Kohsaka S. TITLE Involvement of Iba1 in membrane ruffling and phagocytosis of macrophages/microglia JOURNAL J Cell Sci 113 (Pt 17), 3073-3084 (2000) PUBMED 10934045 REFERENCE 8 (residues 1 to 147) AUTHORS Allcock RJ, Martin AM and Price P. TITLE The mouse as a model for the effects of MHC genes on human disease JOURNAL Immunol Today 21 (7), 328-332 (2000) PUBMED 10871872 REMARK Review article REFERENCE 9 (residues 1 to 147) AUTHORS Handel-Fernandez ME, Kurimoto I, Streilein JW and Vincek V. TITLE Genetic mapping and physical cloning of UVB susceptibility region in mice JOURNAL J Invest Dermatol 113 (2), 224-229 (1999) PUBMED 10469308 REFERENCE 10 (residues 1 to 147) AUTHORS Lund T, Shaikh S, Kendall E, Campbell RD, Hattori M, Makino S and Cooke A. TITLE RFLP analysis of the MHC class III region defines unique haplotypes for the non-obese diabetic, cataract Shionogi and the non-obese non-diabetic mouse strains JOURNAL Diabetologia 36 (8), 727-733 (1993) PUBMED 8104833 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR974444.18. On Mar 28, 2018 this sequence version replaced XP_006523567.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189685.275043.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..147 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 18.59 cM" Protein 1..147 /product="allograft inflammatory factor 1 isoform a" /note="testis specific; ionized calcium binding adapter molecule 1" /calculated_mol_wt=16779 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P81076; propagated from UniProtKB/Swiss-Prot (O70200.1)" Site 11 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P55008; propagated from UniProtKB/Swiss-Prot (O70200.1)" Region <48..113 /region_name="PTZ00184" /note="calmodulin; Provisional" /db_xref="CDD:185504" Region 128..147 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O70200.1)" CDS 1..147 /gene="Aif1" /gene_synonym="AIF-1; D17H6S50E; G1; Iba1" /coded_by="NM_001361501.2:318..761" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS28689.1" /db_xref="GeneID:11629" /db_xref="MGI:MGI:1343098" ORIGIN 1 msqsrdlqgg kafgllkaqq eerleginkq flddpkysnd edlpskleaf kvkymefdln 61 gngdidimsl krmleklgvp kthlelkrli revssgseet fsysdflrmm lgkrsailrm 121 ilmyeeknke hkrptgppak kaiselp // LOCUS NP_001300849 810 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 3 [Mus musculus]. ACCESSION NP_001300849 XP_011242299 VERSION NP_001300849.1 DBSOURCE REFSEQ: accession NM_001313920.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 810) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 810) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 810) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 810) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 810) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 810) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 810) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 810) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 810) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 810) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Sep 11, 2015 this sequence version replaced XP_011242299.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (3) has an alternate 5' structure, which results in the use of a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X95580.1, SRR17253013.247521.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..810 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..810 /product="hypoxia-inducible factor 1-alpha isoform 3" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=90484 Region 1..71 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(6..7,9..11,14..15,17..18,43..44) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Site order(20..21,23..24,27..28,31..32,43..45,48..49,52,55..56, 59) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 81..136 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 242..327 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:369881" Site order(243,247,253,266..269,295,300) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(263,267,275,278..279,307,309) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 541..567 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:402842" Region 774..809 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:400914" CDS 1..810 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_001313920.2:89..2521" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS83968.1" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 msserrkeks rdaarsrrsk esevfyelah qlplphnvss hldkasvmrl tisylrvrkl 61 ldaggldsed emkaqmdcfy lkaldgfvmv ltddgdmvyi sdnvnkymgl tqfeltghsv 121 fdfthpcdhe emremlthrn gpvrkgkeln tqrsfflrmk ctltsrgrtm niksatwkvl 181 hctghihvyd tnsnqpqcgy kkppmtclvl icepiphpsn ieipldsktf lsrhsldmkf 241 sycderitel mgyepeellg rsiyeyyhal dsdhltkthh dmftkgqvtt gqyrmlakrg 301 gyvwvetqat viyntknsqp qcivcvnyvv sgiiqhdlif slqqtesvlk pvessdmkmt 361 qlftkvesed tsclfdklkk epdaltllap aagdtiisld fgsddteted qqledvplyn 421 dvmfpssnek lninlamspl pssetpkplr ssadpalnqe valklesspe slglsftmpq 481 iqdqpaspsd gstrqsspep nspseycfdv dsdmvnvfkl elveklfaed teaknpfstq 541 dtdldlemla pyipmdddfq lrsfdqlspl esnspsppsm stvtgfqqtq lqkptitata 601 tttattdesk tetkdnkedi kiliaspsst qvpqetttak asaysgthsr taspdragkr 661 vieqtdkahp rslnlsatln qrntvpeeel npktiasqna qrkrkmehdg slfqaagigt 721 llqqpgdcap tmslswkrvk gfisseqngt eqktiilips dlacrllgqs mdesglpqlt 781 sydcevnapi qgsrnllqge ellraldqvn // LOCUS NP_001349229 504 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 24 [Mus musculus]. ACCESSION NP_001349229 VERSION NP_001349229.1 DBSOURCE REFSEQ: accession NM_001362300.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 504) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 504) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 504) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 504) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 504) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 504) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 504) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 504) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 504) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 504) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..504 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..504 /product="CUGBP Elav-like family member 4 isoform 24" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53765 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 415..493 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..504 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362300.1:531..2045" /note="isoform 24 is encoded by transcript variant 29" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal 301 nmnglaaapm tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi 361 hpypaqspta adplqqayag vqqyagpaay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgnvisskv fvdratnqsk cfgfvsfdnp asaqtaiqam 481 ngfqigmkrl kvqlkrpkda nrpy // LOCUS NP_001139766 495 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 29 [Mus musculus]. ACCESSION NP_001139766 VERSION NP_001139766.1 DBSOURCE REFSEQ: accession NM_001146294.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 495) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 495) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 495) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 495) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 495) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 495) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 495) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 495) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 495) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 495) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8, AK048427.1, AF515450.1, BE861427.1, CX242398.1, AK038871.1 and AK078071.1. Transcript Variant: This variant (3) encodes isoform (29, also known as C). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF515450.1, SRR1660811.50378.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..495 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..495 /product="CUGBP Elav-like family member 4 isoform 29" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=52843 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 406..484 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..495 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001146294.2:531..2018" /note="isoform 29 is encoded by transcript variant 3" /db_xref="CCDS:CCDS89206.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc nlliyhlpqe 421 fgdaelmqmf lpfgnvissk vfvdratnqs kcfgfvsfdn pasaqtaiqa mngfqigmkr 481 lkvqlkrpkd anrpy // LOCUS NP_001152868 329 aa linear ROD 09-OCT-2023 DEFINITION interferon regulatory factor 1 isoform a [Mus musculus]. ACCESSION NP_001152868 VERSION NP_001152868.1 DBSOURCE REFSEQ: accession NM_001159396.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 329) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 329) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 329) AUTHORS Gungabeesoon J, Gort-Freitas NA, Kiss M, Bolli E, Messemaker M, Siwicki M, Hicham M, Bill R, Koch P, Cianciaruso C, Duval F, Pfirschke C, Mazzola M, Peters S, Homicsko K, Garris C, Weissleder R, Klein AM and Pittet MJ. TITLE A neutrophil response linked to tumor control in immunotherapy JOURNAL Cell 186 (7), 1448-1464 (2023) PUBMED 37001504 REFERENCE 4 (residues 1 to 329) AUTHORS Chen X, Qi D, Fan S, He Y, Jing H and Wang D. TITLE Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury JOURNAL Clin Sci (Lond) 137 (5), 367-383 (2023) PUBMED 36857175 REMARK GeneRIF: Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury. REFERENCE 5 (residues 1 to 329) AUTHORS Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Turel O, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guerin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudee C, Paz MEJ, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martinez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Levy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Beziat V, Lachmann N, Langlais D, Casanova JL, Gros P and Bustamante J. TITLE Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria JOURNAL Cell 186 (3), 621-645 (2023) PUBMED 36736301 REFERENCE 6 (residues 1 to 329) AUTHORS Gribaudo G, Caliendo A, Lembo D, Cavallo R and Landolfo S. TITLE Molecular cloning of interferon-gamma inducible genes from a murine pre-B cell leukemia JOURNAL J Biol Regul Homeost Agents 6 (4), 137-141 (1992) PUBMED 1296455 REFERENCE 7 (residues 1 to 329) AUTHORS Tanaka N and Taniguchi T. TITLE Cytokine gene regulation: regulatory cis-elements and DNA binding factors involved in the interferon system JOURNAL Adv Immunol 52, 263-281 (1992) PUBMED 1442307 REMARK Review article REFERENCE 8 (residues 1 to 329) AUTHORS Buckwalter MS, Lossie AC, Scarlett LM and Camper SA. TITLE Localization of the human chromosome 5q genes Gabra-1, Gabrg-2, Il-4, Il-5, and Irf-1 on mouse chromosome 11 JOURNAL Mamm Genome 3 (10), 604-607 (1992) PUBMED 1358285 REFERENCE 9 (residues 1 to 329) AUTHORS Driggers PH, Ennist DL, Gleason SL, Mak WH, Marks MS, Levi BZ, Flanagan JR, Appella E and Ozato K. TITLE An interferon gamma-regulated protein that binds the interferon-inducible enhancer element of major histocompatibility complex class I genes JOURNAL Proc Natl Acad Sci U S A 87 (10), 3743-3747 (1990) PUBMED 2111015 REFERENCE 10 (residues 1 to 329) AUTHORS Harada H, Fujita T, Miyamoto M, Kimura Y, Maruyama M, Furia A, Miyata T and Taniguchi T. TITLE Structurally similar but functionally distinct factors, IRF-1 and IRF-2, bind to the same regulatory elements of IFN and IFN-inducible genes JOURNAL Cell 58 (4), 729-739 (1989) PUBMED 2475256 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY328342.1, AK152005.1 and BE950981.1. Transcript Variant: This variant (2) represents use of an alternate promoter and 5' non-coding exon, compared to variant 1, and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003821.1, SRR11927937.5004821.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..329 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 32.0 cM" Protein 1..329 /product="interferon regulatory factor 1 isoform a" /calculated_mol_wt=37188 Region 7..112 /region_name="IRF" /note="Interferon regulatory factor transcription factor; pfam00605" /db_xref="CDD:425772" Site order(40,80,82..83,86) /site_type="other" /note="DNA sequence recognition sites [nucleotide binding]" /db_xref="CDD:238051" Site 78 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P10914; propagated from UniProtKB/Swiss-Prot (P15314.1)" Site order(85..86,88,91) /site_type="metal-binding" /db_xref="CDD:238051" Region 93..166 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P15314.1)" CDS 1..329 /gene="Irf1" /gene_synonym="Irf-1" /coded_by="NM_001159396.1:225..1214" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS24686.1" /db_xref="GeneID:16362" /db_xref="MGI:MGI:96590" ORIGIN 1 mpitrmrmrp wlemqinsnq ipgliwinke emifqipwkh aakhgwdink daclfrswai 61 htgrykagek epdpktwkan frcamnslpd ieevkdqsrn kgssavrvyr mlppltrnqr 121 kerkskssrd tksktkrklc gdvspdtfsd glssstlpdd hssyttqgyl gqdldmerdi 181 tpalspcvvs sslsewhmqm diipdsttdl ynlqvspmps tseaatdede egkiaedlmk 241 lfeqsewqpt hidgkgylln epgtqlssvy gdfsckeepe idsprgdigi giqhvftemk 301 nmdsimwmds llgnsvrlpp siqaipcap // LOCUS NP_001349207 543 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 4 [Mus musculus]. ACCESSION NP_001349207 VERSION NP_001349207.1 DBSOURCE REFSEQ: accession NM_001362278.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 543) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 543) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 543) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 543) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 543) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 543) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 543) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 543) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 543) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 543) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..543 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..543 /product="CUGBP Elav-like family member 4 isoform 4" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=57863 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 404..>452 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..543 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362278.1:531..2162" /note="isoform 4 is encoded by transcript variant 10" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl liyhlpqefg 421 daelmqmflp fgnvisskvf vdratnqskc fgrhpvpsrc qapscqggqc aisssarrlr 481 elrqpgqrtd rhpgherlpd rheeaqgaae aaqrrqspvl saggsvprgr pglaqgrmln 541 glh // LOCUS NP_036066 502 aa linear ROD 09-OCT-2023 DEFINITION alpha-ketoglutarate-dependent dioxygenase FTO [Mus musculus]. ACCESSION NP_036066 VERSION NP_036066.2 DBSOURCE REFSEQ: accession NM_011936.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 502) AUTHORS Zhou C, She X, Gu C, Hu Y, Ma M, Qiu Q, Sun T, Xu X, Chen H and Zheng Z. TITLE FTO fuels diabetes-induced vascular endothelial dysfunction associated with inflammation by erasing m6A methylation of TNIP1 JOURNAL J Clin Invest 133 (19), e160517 (2023) PUBMED 37781923 REMARK GeneRIF: FTO fuels diabetes-induced vascular endothelial dysfunction associated with inflammation by erasing m6A methylation of TNIP1. Publication Status: Online-Only REFERENCE 2 (residues 1 to 502) AUTHORS Zhang J, Wei J, Sun R, Sheng H, Yin K, Pan Y, Jimenez R, Chen S, Cui XL, Zou Z, Yue Z, Emch MJ, Hawse JR, Wang L, He HH, Xia S, Han B, He C and Huang H. TITLE A lncRNA from the FTO locus acts as a suppressor of the m6A writer complex and p53 tumor suppression signaling JOURNAL Mol Cell 83 (15), 2692-2708 (2023) PUBMED 37478845 REMARK GeneRIF: A lncRNA from the FTO locus acts as a suppressor of the m[6]A writer complex and p53 tumor suppression signaling. REFERENCE 3 (residues 1 to 502) AUTHORS Wang W, Du X, Luo M and Yang N. TITLE FTO-dependent m6A regulates muscle fiber remodeling in an NFATC1-YTHDF2 dependent manner JOURNAL Clin Epigenetics 15 (1), 109 (2023) PUBMED 37408034 REMARK GeneRIF: FTO-dependent m[6]A regulates muscle fiber remodeling in an NFATC1-YTHDF2 dependent manner. Publication Status: Online-Only REFERENCE 4 (residues 1 to 502) AUTHORS Li L, Sun Y, Davis AE, Shah SH, Hamed LK, Wu MR, Lin CH, Ding JB and Wang S. TITLE Mettl14-mediated m6A modification ensures the cell-cycle progression of late-born retinal progenitor cells JOURNAL Cell Rep 42 (6), 112596 (2023) PUBMED 37269288 REFERENCE 5 (residues 1 to 502) AUTHORS Zhou SM, Li JZ, Chen HQ, Zeng Y, Yuan WB, Shi Y, Wang N, Fan J, Zhang Z, Xu Y, Cao J and Liu WB. TITLE FTO-Nrf2 axis regulates bisphenol F-induced leydig cell toxicity in an m6A-YTHDF2-dependent manner JOURNAL Environ Pollut 325, 121393 (2023) PUBMED 36878272 REMARK GeneRIF: FTO-Nrf2 axis regulates bisphenol F-induced leydig cell toxicity in an m6A-YTHDF2-dependent manner. REFERENCE 6 (residues 1 to 502) AUTHORS Okazaki N, Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S, Saga Y, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 10 (4), 167-180 (2003) PUBMED 14621295 REFERENCE 7 (residues 1 to 502) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 8 (residues 1 to 502) AUTHORS Peters T, Ausmeier K, Dildrop R and Ruther U. TITLE The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster JOURNAL Mamm Genome 13 (4), 186-188 (2002) PUBMED 11956760 REFERENCE 9 (residues 1 to 502) AUTHORS Peters T, Ausmeier K and Ruther U. TITLE Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation JOURNAL Mamm Genome 10 (10), 983-986 (1999) PUBMED 10501967 REFERENCE 10 (residues 1 to 502) AUTHORS Araki K, Imaizumi T, Sekimoto T, Yoshinobu K, Yoshimuta J, Akizuki M, Miura K, Araki M and Yamamura K. TITLE Exchangeable gene trap using the Cre/mutated lox system JOURNAL Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999) PUBMED 10512203 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY290198.1, BC057008.1 and CA321822.1. On Feb 5, 2008 this sequence version replaced NP_036066.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC057008.1, AJ237917.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..502 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 44.34 cM" Protein 1..502 /product="alpha-ketoglutarate-dependent dioxygenase FTO" /EC_number="1.14.11.53" /note="protein fatso; fat mass and obesity-associated protein; m6A(m)-demethylase FTO; tRNA N1-methyl adenine demethylase FTO; mRNA N(6)-methyladenosine demethylase FTO; mRNA (2'-O-methyladenosine-N(6)-)-demethylase FTO; U6 small nuclear RNA N(6)-methyladenosine-demethylase FTO; fat mass and obesity associated; U6 small nuclear RNA (2'-O-methyladenosine-N(6)-)-demethylase FTO" /calculated_mol_wt=57876 Region 32..324 /region_name="Fe2OG dioxygenase domain. /evidence=ECO:0000250|UniProtKB:Q9C0B1" /note="propagated from UniProtKB/Swiss-Prot (Q8BGW1.1)" Region 36..322 /region_name="FTO_NTD" /note="FTO catalytic domain; pfam12933" /db_xref="CDD:432886" Region 210..221 /region_name="Loop L1, predicted to block binding of double-stranded DNA or RNA. /evidence=ECO:0000250|UniProtKB:Q9C0B1" /note="propagated from UniProtKB/Swiss-Prot (Q8BGW1.1)" Site 213 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q9C0B1; propagated from UniProtKB/Swiss-Prot (Q8BGW1.1)" Region 326..495 /region_name="FTO_CTD" /note="FTO C-terminal domain; pfam12934" /db_xref="CDD:432887" CDS 1..502 /gene="Fto" /gene_synonym="mKIAA1752" /coded_by="NM_011936.2:52..1560" /db_xref="CCDS:CCDS22521.1" /db_xref="GeneID:26383" /db_xref="MGI:MGI:1347093" ORIGIN 1 mkrvqtaeer ereakklrll eeledtwlpy ltpkddefyq qwqlkypklv freagsipee 61 lhkevpeafl tlhkhgclfr dvvriqgkdv ltpvsrilig dpgctykyln trlftvpwpv 121 kgctvkytea eiaaacqtfl klndylqvet iqaleelavr ekanedavpl cmaefpragv 181 gpscddevdl ksraaynvtl lnfmdpqkmp ylkeepyfgm gkmavswhhd enlvdrsava 241 vysyscegse desedessfe grdpdtwhvg fkiswdietp gltiplhqgd cyfmlddlna 301 thqhcvlags qprfssthrv aecstgtldy ilercqlalq nvlndsddgd vslksfdpav 361 lkqgeeihne vefewlrqfw fqgnryklct dwwcepmthl eglwkkmesm tnavlrevkr 421 eglpveqrse ilsailvplt vrqnlrkewh arcqsrvvrt lpvqqkpdcr pywekddpsm 481 plpfdltdvv selrgqllea rs // LOCUS NP_001349208 536 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 5 [Mus musculus]. ACCESSION NP_001349208 XP_017173274 VERSION NP_001349208.1 DBSOURCE REFSEQ: accession NM_001362279.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 536) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 536) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 536) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 536) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 536) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 536) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 536) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 536) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 536) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 536) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173274.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.265626.1, SRR10662772.82830.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..536 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..536 /product="CUGBP Elav-like family member 4 isoform 5" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=57006 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 417..>445 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..536 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362279.1:531..2141" /note="isoform 5 is encoded by transcript variant 11" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregpeg 421 cnlliyhlpq efgdaelmqm flpfgrhpvp srcqapscqg gqcaisssar rlrelrqpgq 481 rtdrhpgher lpdrheeaqg aaeaaqrrqs pvlsaggsvp rgrpglaqgr mlnglh // LOCUS NP_001334161 433 aa linear ROD 09-OCT-2023 DEFINITION glycogen synthase kinase-3 beta isoform 2 [Mus musculus]. ACCESSION NP_001334161 XP_006522488 VERSION NP_001334161.1 DBSOURCE REFSEQ: accession NM_001347232.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 433) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 433) AUTHORS Brishti MA, Raghavan S, Lamar K, Singh UP, Collier DM and Leo MD. TITLE Diabetic Endothelial Cell Glycogen Synthase Kinase 3beta Activation Induces VCAM1 Ectodomain Shedding JOURNAL Int J Mol Sci 24 (18), 14105 (2023) PUBMED 37762417 REMARK GeneRIF: Diabetic Endothelial Cell Glycogen Synthase Kinase 3beta Activation Induces VCAM1 Ectodomain Shedding. Publication Status: Online-Only REFERENCE 3 (residues 1 to 433) AUTHORS Sunilkumar S, VanCleave AM, McCurry CM, Toro AL, Stevens SA, Kimball SR and Dennis MD. TITLE REDD1-dependent GSK3beta dephosphorylation promotes NF-kappaB activation and macrophage infiltration in the retina of diabetic mice JOURNAL J Biol Chem 299 (8), 104991 (2023) PUBMED 37392853 REMARK GeneRIF: REDD1-dependent GSK3beta dephosphorylation promotes NF-kappaB activation and macrophage infiltration in the retina of diabetic mice. REFERENCE 4 (residues 1 to 433) AUTHORS Cai X, Zhao Y, Yang Y, Wu X, Zhang L, Ma JA, Ji J, Bostrom KI and Yao Y. TITLE GSK3beta Inhibition Ameliorates Atherosclerotic Calcification JOURNAL Int J Mol Sci 24 (14), 11638 (2023) PUBMED 37511396 REMARK GeneRIF: GSK3beta Inhibition Ameliorates Atherosclerotic Calcification. Publication Status: Online-Only REFERENCE 5 (residues 1 to 433) AUTHORS Sun L, Zhang X, Wu S, Liu Y, Guerrero-Juarez CF, Liu W, Huang J, Yao Q, Yin M, Li J, Ramos R, Liao Y, Wu R, Xia T, Zhang X, Yang Y, Li F, Heng S, Zhang W, Yang M, Tzeng CM, Ji C, Plikus MV, Gallo RL and Zhang LJ. TITLE Dynamic interplay between IL-1 and WNT pathways in regulating dermal adipocyte lineage cells during skin development and wound regeneration JOURNAL Cell Rep 42 (6), 112647 (2023) PUBMED 37330908 REFERENCE 6 (residues 1 to 433) AUTHORS Sakanaka C and Williams LT. TITLE Functional domains of axin. Importance of the C terminus as an oligomerization domain JOURNAL J Biol Chem 274 (20), 14090-14093 (1999) PUBMED 10318824 REFERENCE 7 (residues 1 to 433) AUTHORS Diehl JA, Cheng M, Roussel MF and Sherr CJ. TITLE Glycogen synthase kinase-3beta regulates cyclin D1 proteolysis and subcellular localization JOURNAL Genes Dev 12 (22), 3499-3511 (1998) PUBMED 9832503 REFERENCE 8 (residues 1 to 433) AUTHORS Hart MJ, de los Santos R, Albert IN, Rubinfeld B and Polakis P. TITLE Downregulation of beta-catenin by human Axin and its association with the APC tumor suppressor, beta-catenin and GSK3 beta JOURNAL Curr Biol 8 (10), 573-581 (1998) PUBMED 9601641 REFERENCE 9 (residues 1 to 433) AUTHORS Behrens J, Jerchow BA, Wurtele M, Grimm J, Asbrand C, Wirtz R, Kuhl M, Wedlich D and Birchmeier W. TITLE Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta JOURNAL Science 280 (5363), 596-599 (1998) PUBMED 9554852 REFERENCE 10 (residues 1 to 433) AUTHORS Cohen,J.S. TITLE Provide fluoxetine information vital to clinicians JOURNAL J Clin Psychiatry 56 (12), 591 (1995) PUBMED 8530339 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC120020.9 and AC154284.1. On Nov 18, 2016 this sequence version replaced XP_006522488.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219380.3497.1, SRR7652917.564182.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..433 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="16" /map="16 26.54 cM" Protein 1..433 /product="glycogen synthase kinase-3 beta isoform 2" /EC_number="2.7.11.1" /EC_number="2.7.11.26" /note="serine/threonine-protein kinase GSK3B" /calculated_mol_wt=47859 Region 51..356 /region_name="STKc_GSK3" /note="The catalytic domain of the Serine/Threonine Kinase, Glycogen Synthase Kinase 3; cd14137" /db_xref="CDD:271039" Site order(62..66,70,83,85,96,110,132..135,138,140..141,181, 183,185..186,188,200,203,214,216..219,221,259) /site_type="active" /db_xref="CDD:271039" Site order(62..65,70,83,85,110,132..135,138,183,185..186,188, 200) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271039" Site order(66..67,212..220,228..229,260..264,266..267,271, 291..294) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:271039" Site order(96,140,181,183,203,214,216..219,221,259) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271039" Site order(199..209,211..221) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271039" Site order(228,263..264,266..267,270..271,291..296) /site_type="other" /note="axin binding site [polypeptide binding]" /db_xref="CDD:271039" CDS 1..433 /gene="Gsk3b" /gene_synonym="7330414F15Rik; 8430431H08Rik; GSK-3; GSK-3beta; GSK3" /coded_by="NM_001347232.1:1526..2827" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS84232.1" /db_xref="GeneID:56637" /db_xref="MGI:MGI:1861437" ORIGIN 1 msgrprttsf aesckpvqqp safgsmkvsr dkdgskvttv vatpgqgpdr pqevsytdtk 61 vigngsfgvv yqaklcdsge lvaikkvlqd krfknrelqi mrkldhcniv rlryffyssg 121 ekkdevylnl vldyvpetvy rvarhysrak qtlpviyvkl ymyqlfrsla yihsfgichr 181 dikpqnllld pdtavlklcd fgsakqlvrg epnvsyicsr yyrapelifg atdytssidv 241 wsagcvlael llgqpifpgd sgvdqlveii kvlgtptreq iremnpnyte fkfpqikahp 301 wtkdspgagh ftpgvrvfrp rtppeaialc srlleytpta rltpleacah sffdelrdpn 361 vklpngrdtp alfnfttqel ssnpplatil ipphariqaa asppanataa sdtnagdrgq 421 tnnaasasas nst // LOCUS NP_035329 591 aa linear ROD 09-OCT-2023 DEFINITION parathyroid hormone/parathyroid hormone-related peptide receptor precursor [Mus musculus]. ACCESSION NP_035329 VERSION NP_035329.2 DBSOURCE REFSEQ: accession NM_011199.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 591) AUTHORS Amano K, Kitaoka Y, Kato S, Fujiwara M, Okuzaki D, Aikawa T, Kogo M and Iida S. TITLE Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis JOURNAL J Dent Res 102 (11), 1241-1251 (2023) PUBMED 37575041 REMARK GeneRIF: Pth1r Signal in Gli1+ Cells Maintains Postnatal Cranial Base Synchondrosis. REFERENCE 2 (residues 1 to 591) AUTHORS Liu H, Wada A, Le I, Le PT, Lee AWF, Zhou J, Gori F, Baron R and Rosen CJ. TITLE PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner JOURNAL Elife 12, e83345 (2023) PUBMED 37159501 REMARK GeneRIF: PTH regulates osteogenesis and suppresses adipogenesis through Zfp467 in a feed-forward, PTH1R-cyclic AMP-dependent manner. Publication Status: Online-Only REFERENCE 3 (residues 1 to 591) AUTHORS Chu TL, Chen P, Yu AX, Kong M, Tan Z, Tsang KY, Zhou Z and Cheah KSE. TITLE MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism JOURNAL Elife 12, e82142 (2023) PUBMED 36892459 REMARK GeneRIF: MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism. Publication Status: Online-Only REFERENCE 4 (residues 1 to 591) AUTHORS Wang F, Rummukainen P, Pehkonen M, Saamanen AM, Heino TJ and Kiviranta R. TITLE Mesenchymal cell-derived Wnt1 signaling regulates subchondral bone remodeling but has no effects on the development of growth plate or articular cartilage in mice JOURNAL Bone 163, 116497 (2022) PUBMED 35863746 REFERENCE 5 (residues 1 to 591) AUTHORS Kimura T, Panaroni C, Rankin EB, Purton LE and Wu JY. TITLE Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow JOURNAL J Bone Miner Res 37 (7), 1321-1334 (2022) PUBMED 35490308 REMARK GeneRIF: Loss of Parathyroid Hormone Receptor Signaling in Osteoprogenitors Is Associated With Accumulation of Multiple Hematopoietic Lineages in the Bone Marrow. REFERENCE 6 (residues 1 to 591) AUTHORS McCuaig KA, Lee HS, Clarke JC, Assar H, Horsford J and White JH. TITLE Parathyroid hormone/parathyroid hormone related peptide receptor gene transcripts are expressed from tissue-specific and ubiquitous promoters JOURNAL Nucleic Acids Res 23 (11), 1948-1955 (1995) PUBMED 7596823 REMARK Erratum:[Nucleic Acids Res 1995 Aug 11;23(15):3082] REFERENCE 7 (residues 1 to 591) AUTHORS Karperien M, van Dijk TB, Hoeijmakers T, Cremers F, Abou-Samra AB, Boonstra J, de Laat SW and Defize LH. TITLE Expression pattern of parathyroid hormone/parathyroid hormone related peptide receptor mRNA in mouse postimplantation embryos indicates involvement in multiple developmental processes JOURNAL Mech Dev 47 (1), 29-42 (1994) PUBMED 7524627 REFERENCE 8 (residues 1 to 591) AUTHORS Kong XF, Schipani E, Lanske B, Joun H, Karperien M, Defize LH, Juppner H, Potts JT Jr, Segre GV, Kronenberg HM et al. TITLE The rat, mouse and human genes encoding the receptor for parathyroid hormone and parathyroid hormone-related peptide are highly homologous JOURNAL Biochem Biophys Res Commun 200 (3), 1290-1299 (1994) PUBMED 8185578 REMARK Erratum:[Biochem Biophys Res Commun. 1994 Jun 15;201(2):1058. PMID: 8002976] REFERENCE 9 (residues 1 to 591) AUTHORS Pausova Z, Bourdon J, Clayton D, Mattei MG, Seldin MF, Janicic N, Riviere M, Szpirer J, Levan G, Szpirer C et al. TITLE Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes JOURNAL Genomics 20 (1), 20-26 (1994) PUBMED 8020952 REFERENCE 10 (residues 1 to 591) AUTHORS Seldin MF, Mattei MG and Hendy GN. TITLE Localization of mouse parathyroid hormone-like peptide gene (Pthlh) to distal chromosome 6 using interspecific backcross mice and in situ hybridization JOURNAL Cytogenet Cell Genet 60 (3-4), 252-254 (1992) PUBMED 1354597 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC139378.4, BY005592.1, BC051981.1 and AI607947.1. On Apr 14, 2007 this sequence version replaced NP_035329.1. Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013446.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..591 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 60.56 cM" Protein 1..591 /product="parathyroid hormone/parathyroid hormone-related peptide receptor precursor" /note="parathyroid hormone receptor 1; parathyroid hormone/parathyroid hormone-related peptide receptor; PTH1 receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH-related peptide receptor; PTH/PTHrP receptor" /calculated_mol_wt=63570 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2820 Region 67..104 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 105..170 /region_name="HRM" /note="Hormone receptor domain; pfam02793" /db_xref="CDD:397086" Site 151 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 161 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 176 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 184..476 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Region 187..211 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:410628" Site 189..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 220..241 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Site 220..239 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 282..304 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 283..306 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Site 321..342 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 323..339 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Region 356..379 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 362..382 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 407..429 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 410..428 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 438..463 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 441..463 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" Region 474..477 /region_name="Important for interaction with G proteins. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P41593.2)" CDS 1..591 /gene="Pth1r" /gene_synonym="PPR; Pthr; Pthr1" /coded_by="NM_011199.2:280..2055" /db_xref="CCDS:CCDS52940.1" /db_xref="GeneID:19228" /db_xref="MGI:MGI:97801" ORIGIN 1 mgtariapsl alllccpvls sayalvdadd vftkeeqifl lhraqaqcdk llkevlhtaa 61 nimesdkgwt pastsgkprk ekapgkfype skenkdvptg srrrgrpclp ewdnivcwpl 121 gapgevvavp cpdyiydfnh kghayrrcdr ngswevvpgh nrtwanysec lkfmtnetre 181 revfdrlgmi ytvgysmsla sltvavlila yfrrlhctrn yihmhmflsf mlraasifvk 241 davlysgftl deaerlteee lhiiaqvppp paaaavgyag crvavtffly flatnyywil 301 veglylhsli fmaffsekky lwgftifgwg lpavfvavwv gvratlantg cwdlssghkk 361 wiiqvpilas vvlnfilfin iirvlatklr etnagrcdtr qqyrkllrst lvlvplfgvh 421 ytvfmalpyt evsgtlwqiq mhyemlfnsf qgffvaiiyc fcngevqaei rkswsrwtla 481 ldfkrkarsg sssysygpmv shtsvtnvgp raglslplsp rllpattngh sqlpghakpg 541 apaienetip vtmtvpkddg flngscsgld eeasgsarpp pllqeewetv m // LOCUS NP_619610 411 aa linear ROD 09-OCT-2023 DEFINITION eukaryotic initiation factor 4A-III [Mus musculus]. ACCESSION NP_619610 VERSION NP_619610.1 DBSOURCE REFSEQ: accession NM_138669.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 411) AUTHORS Yang Y, Yang H and Yang C. TITLE Circ-AMOTL1 enhances cardiac fibrosis through binding with EIF4A3 and stabilizing MARCKS expression in diabetic cardiomyopathy JOURNAL Cell Signal 111, 110853 (2023) PUBMED 37586467 REMARK GeneRIF: Circ-AMOTL1 enhances cardiac fibrosis through binding with EIF4A3 and stabilizing MARCKS expression in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 411) AUTHORS Luo P, Gong Y, Weng J, Wen F, Luo J, Hu C, Xiao J and Shu J. TITLE CircKIF4A combines EIF4A3 to stabilize SDC1 expression to activate c-src/FAK and promotes TNBC progression JOURNAL Cell Signal 108, 110690 (2023) PUBMED 37121557 REMARK GeneRIF: CircKIF4A combines EIF4A3 to stabilize SDC1 expression to activate c-src/FAK and promotes TNBC progression. REFERENCE 3 (residues 1 to 411) AUTHORS Lupan BM, Solecki RA, Musso CM, Alsina FC and Silver DL. TITLE The exon junction complex component EIF4A3 is essential for mouse and human cortical progenitor mitosis and neurogenesis JOURNAL Development 150 (10) (2023) PUBMED 37139782 REMARK GeneRIF: The exon junction complex component EIF4A3 is essential for mouse and human cortical progenitor mitosis and neurogenesis. REFERENCE 4 (residues 1 to 411) AUTHORS Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, de Caires LC Jr, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR and Silver DL. TITLE EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome JOURNAL Hum Mol Genet 26 (12), 2177-2191 (2017) PUBMED 28334780 REFERENCE 5 (residues 1 to 411) AUTHORS Mao H, McMahon JJ, Tsai YH, Wang Z and Silver DL. TITLE Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly JOURNAL PLoS Genet 12 (9), e1006282 (2016) PUBMED 27618312 REMARK GeneRIF: we first show that Eif4a3 haploinsufficiency phenocopies aberrant neurogenesis and microcephaly of Magoh and Rbm8a mutant mice.we show that genetic ablation of one downstream pathway, p53, significantly rescues microcephaly of all 3 EJC mutant Publication Status: Online-Only REFERENCE 6 (residues 1 to 411) AUTHORS Hutchins JR, Toyoda Y, Hegemann B, Poser I, Heriche JK, Sykora MM, Augsburg M, Hudecz O, Buschhorn BA, Bulkescher J, Conrad C, Comartin D, Schleiffer A, Sarov M, Pozniakovsky A, Slabicki MM, Schloissnig S, Steinmacher I, Leuschner M, Ssykor A, Lawo S, Pelletier L, Stark H, Nasmyth K, Ellenberg J, Durbin R, Buchholz F, Mechtler K, Hyman AA and Peters JM. TITLE Systematic analysis of human protein complexes identifies chromosome segregation proteins JOURNAL Science 328 (5978), 593-599 (2010) PUBMED 20360068 REFERENCE 7 (residues 1 to 411) AUTHORS Koroleva OA, Calder G, Pendle AF, Kim SH, Lewandowska D, Simpson CG, Jones IM, Brown JW and Shaw PJ. TITLE Dynamic behavior of Arabidopsis eIF4A-III, putative core protein of exon junction complex: fast relocation to nucleolus and splicing speckles under hypoxia JOURNAL Plant Cell 21 (5), 1592-1606 (2009) PUBMED 19435936 REFERENCE 8 (residues 1 to 411) AUTHORS Feng J, Lawson MA and Melamed P. TITLE A proteomic comparison of immature and mature mouse gonadotrophs reveals novel differentially expressed nuclear proteins that regulate gonadotropin gene transcription and RNA splicing JOURNAL Biol Reprod 79 (3), 546-561 (2008) PUBMED 18480465 REMARK GeneRIF: The knockdown of PRPF19 or EIF4A3 decreased splicing of Lhb, or of both beta subunit transcripts, respectively. REFERENCE 9 (residues 1 to 411) AUTHORS Okazaki N, Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S, Saga Y, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 10 (4), 167-180 (2003) PUBMED 14621295 REFERENCE 10 (residues 1 to 411) AUTHORS Le Hir H, Gatfield D, Izaurralde E and Moore MJ. TITLE The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay JOURNAL EMBO J 20 (17), 4987-4997 (2001) PUBMED 11532962 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from BC008132.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008132.1, AK167107.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..411 /organism="Mus musculus" /strain="FVB/N" /db_xref="taxon:10090" /chromosome="11" /map="11 83.35 cM" Protein 1..411 /product="eukaryotic initiation factor 4A-III" /EC_number="3.6.4.13" /note="DEAD (Asp-Glu-Ala-Asp) box polypeptide 48; DEAD box protein 48; ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; eIF-4A-III" /calculated_mol_wt=46709 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 2 /site_type="acetylation" /note="N-acetylalanine, in Eukaryotic initiation factor 4A-III, N-terminally processed. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 10 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P60842; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 12 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Region 35..411 /region_name="DEAD-like_helicase_N" /note="N-terminal helicase domain of the DEAD-box helicase superfamily; cl28899" /db_xref="CDD:452890" Region 38..66 /region_name="Q motif" /note="propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site order(40,56,58..62,65,83..90,187..188) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350803" Site order(63,67,83,86,222..224,227) /site_type="other" /note="Mago interface [polypeptide binding]" /db_xref="CDD:350803" Site order(106,150..151,154..155,174,177..179,201..202, 205..210,230..234) /site_type="other" /note="Barentsz interface [polypeptide binding]" /db_xref="CDD:350803" Site order(114..116,142..143,163..166,169,172,197,200) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:350803" Site 124 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P60842; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 163 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Region 187..190 /region_name="DEAD box. /evidence=ECO:0000305" /note="propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 198 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P60843; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 296 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" Site 321 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P38919; propagated from UniProtKB/Swiss-Prot (Q91VC3.3)" CDS 1..411 /gene="Eif4a3" /gene_synonym="2400003O03Rik; Ddx48; eIF4A-III; mKIAA0111" /coded_by="NM_138669.1:48..1283" /db_xref="CCDS:CCDS25714.1" /db_xref="GeneID:192170" /db_xref="MGI:MGI:1923731" ORIGIN 1 maanatmats gsarkrllke edmtkvefet seevdvtptf dtmglredll rgiyaygfek 61 psaiqqraik qiikgrdvia qsqsgtgkta tfsvsvlqcl diqvretqal ilaptrelav 121 qiqkgllalg dymnvqchac iggtnvgedi rkldygqhvv agtpgrvfdm irrrslrtra 181 ikmlvldead emlnkgfkeq iydvyrylpp atqvvlisat lpheilemtn kfmtdpiril 241 vkrdeltleg ikqffvaver eewkfdtlcd lydtltitqa vifcntkrkv dwltekmrea 301 nftvssmhgd mpqkeresim kefrsgasrv listdvwarg ldvpqvslii nydlpnnrel 361 yihrigrsgr ygrkgvainf vknddirilr dieqyystqi dempmnvadl i // LOCUS NP_033909 477 aa linear ROD 09-OCT-2023 DEFINITION C3a anaphylatoxin chemotactic receptor [Mus musculus]. ACCESSION NP_033909 VERSION NP_033909.1 DBSOURCE REFSEQ: accession NM_009779.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 477) AUTHORS Gedam M, Comerota MM, Propson NE, Chen T, Jin F, Wang MC and Zheng H. TITLE Complement C3aR depletion reverses HIF-1alpha-induced metabolic impairment and enhances microglial response to Abeta pathology JOURNAL J Clin Invest 133 (12), e167501 (2023) PUBMED 37317973 REMARK GeneRIF: Complement C3aR depletion reverses HIF-1alpha-induced metabolic impairment and enhances microglial response to Abeta pathology. Publication Status: Online-Only REFERENCE 2 (residues 1 to 477) AUTHORS Kong LR, Chen XH, Sun Q, Zhang KY, Xu L, Ding L, Zhou YP, Zhang ZB, Lin JR and Gao PJ. TITLE Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway JOURNAL Cell Rep 42 (2), 112078 (2023) PUBMED 36735535 REMARK GeneRIF: Loss of C3a and C5a receptors promotes adipocyte browning and attenuates diet-induced obesity via activating inosine/A2aR pathway. REFERENCE 3 (residues 1 to 477) AUTHORS Cumpelik A, Cody E, Yu SM, Grasset EK, Dominguez-Sola D, Cerutti A and Heeger PS. TITLE Cutting Edge: Neutrophil Complement Receptor Signaling Is Required for BAFF-Dependent Humoral Responses in Mice JOURNAL J Immunol 210 (1), 19-23 (2023) PUBMED 36454023 REFERENCE 4 (residues 1 to 477) AUTHORS Zhao SJ, Wu KY, Min XY, Wang CX, Cao B, Ma N, Yang XL, Zhu ZR, Fu RG, Zhou W, Yang JR and Li K. TITLE Protective role for C3aR in experimental chronic pyelonephritis JOURNAL FASEB J 36 (11), e22599 (2022) PUBMED 36250902 REMARK GeneRIF: Protective role for C3aR in experimental chronic pyelonephritis. REFERENCE 5 (residues 1 to 477) AUTHORS Cohen A, Jeng EE, Voorhies M, Symington J, Ali N, Rodriguez RA, Bassik MC and Sil A. TITLE Genome-scale CRISPR screening reveals that C3aR signaling is critical for rapid capture of fungi by macrophages JOURNAL PLoS Pathog 18 (9), e1010237 (2022) PUBMED 36174103 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 477) AUTHORS Humbles AA, Lu B, Nilsson CA, Lilly C, Israel E, Fujiwara Y, Gerard NP and Gerard C. TITLE A role for the C3a anaphylatoxin receptor in the effector phase of asthma JOURNAL Nature 406 (6799), 998-1001 (2000) PUBMED 10984054 REFERENCE 7 (residues 1 to 477) AUTHORS Lawson PR and Reid KB. TITLE A novel PCR-based technique using expressed sequence tags and gene homology for murine genetic mapping: localization of the complement genes JOURNAL Int Immunol 12 (3), 231-240 (2000) PUBMED 10700458 REFERENCE 8 (residues 1 to 477) AUTHORS Hollmann TJ, Haviland DL, Kildsgaard J, Watts K and Wetsel RA. TITLE Cloning, expression, sequence determination, and chromosome localization of the mouse complement C3a anaphylatoxin receptor gene JOURNAL Mol Immunol 35 (3), 137-148 (1998) PUBMED 9694514 REFERENCE 9 (residues 1 to 477) AUTHORS Tornetta MA, Foley JJ, Sarau HM and Ames RS. TITLE The mouse anaphylatoxin C3a receptor: molecular cloning, genomic organization, and functional expression JOURNAL J Immunol 158 (11), 5277-5282 (1997) PUBMED 9164946 REFERENCE 10 (residues 1 to 477) AUTHORS Hsu MH, Ember JA, Wang M, Prossnitz ER, Hugli TE and Ye RD. TITLE Cloning and functional characterization of the mouse C3a anaphylatoxin receptor gene JOURNAL Immunogenetics 47 (1), 64-72 (1997) PUBMED 9382922 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB665738.1, U77460.1 and AK080984.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BB665738.1, U77460.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..477 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 57.93 cM" Protein 1..477 /product="C3a anaphylatoxin chemotactic receptor" /note="C3a-R; anaphylatoxin C3a receptor" /calculated_mol_wt=53445 Site 9 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 24..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 46..439 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:452889" Site 58..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 58..79 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:410628" Region 96..118 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:410628" Site 97..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 141..157 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:410628" Site 168 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 174 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 184 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 197 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 201 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 312 /site_type="sulfatation" /note="Sulfotyrosine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 327..350 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:410628" Site 334..353 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 369..391 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:410628" Site 371..393 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Region 407..432 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:410628" Site 411..431 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 452 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O09047.1)" Site 456 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O09047.1)" CDS 1..477 /gene="C3ar1" /gene_synonym="AZ3B; C3AR; HNFAG09" /coded_by="NM_009779.2:183..1616" /db_xref="CCDS:CCDS20504.1" /db_xref="GeneID:12267" /db_xref="MGI:MGI:1097680" ORIGIN 1 mesfdadtns tdlhsrplfq pqdiasmvil gltcllgllg nglvlwvagv kmkttvntvw 61 flhltladfl cclslpfsla hlilqghwpy glflcklips iiilnmfasv flltaisldr 121 clivhkpiwc qnhrnvrtaf aicgcvwvva fvmcvpvfvy rdlfimdnrs icrynfdssr 181 sydywdyvyk lslpesnstd nstaqltghm ndrsapssvq ardyfwtvtt alqsqpflts 241 pedsfsldsa nqqphyggkp pnvltaavps gfpvedrksn tlnadaflsa htelfptass 301 ghlypydfqg dyvdqftydn hvptplmait itrlvvgflv pffimvicys livfrmrktn 361 ftksrnktfr vavavvtvff icwtpyhlvg vlllitdpes slgeavmswd hmsialasan 421 scfnpflyal lgkdfrkkar qsikgileaa fseelthstn ctqdkasskr nnmstdv // LOCUS NP_001342086 280 aa linear ROD 09-OCT-2023 DEFINITION F-box only protein 27 isoform 1 [Mus musculus]. ACCESSION NP_001342086 XP_006539929 VERSION NP_001342086.1 DBSOURCE REFSEQ: accession NM_001355157.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 280) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 280) AUTHORS Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and Harper,J.W. TITLE Systematic analysis and nomenclature of mammalian F-box proteins JOURNAL Genes Dev 18 (21), 2573-2580 (2004) PUBMED 15520277 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC109162.12. On Sep 9, 2017 this sequence version replaced XP_006539929.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.1428375.1, ERR3363660.470314.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..280 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 16.89 cM" Protein 1..280 /product="F-box only protein 27 isoform 1" /note="F-box only protein 27" /calculated_mol_wt=31502 Region <37..70 /region_name="F-box_SF" /note="F-box domain superfamily; cl45894" /db_xref="CDD:459239" Region 102..275 /region_name="FBA" /note="F-box associated region; pfam04300" /db_xref="CDD:427850" CDS 1..280 /gene="Fbxo27" /gene_synonym="E130008B10Rik; FBG5; Gm161" /coded_by="NM_001355157.1:84..926" /note="isoform 1 is encoded by transcript variant 3" /db_xref="CCDS:CCDS52164.1" /db_xref="GeneID:233040" /db_xref="MGI:MGI:2685007" ORIGIN 1 mgawisrtrv ptpepdpqev ldlsrlppel lllvlshvpp rtllmhcrrv crawralvdg 61 qalwllllar dhsaagrall tlarrclppa hedtpcplgq fcalrplgrn lisnpcgqeg 121 lrkwmvrhgg dgwvveknrk pvpgapsqtc fvtsfswcrk kqvvdlvekg lwpelldsgg 181 veiavsdwwg arhdsgckyr lfvtlldahq nvidkfsavp dpieqwnndi ylqvthvfsg 241 irrgirfvsf ehwgqdtqfw aghygarvtn ssviirvcqs // LOCUS NP_062801 420 aa linear ROD 09-OCT-2023 DEFINITION glycogen synthase kinase-3 beta isoform 1 [Mus musculus]. ACCESSION NP_062801 XP_358795 VERSION NP_062801.1 DBSOURCE REFSEQ: accession NM_019827.7 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 420) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 420) AUTHORS Brishti MA, Raghavan S, Lamar K, Singh UP, Collier DM and Leo MD. TITLE Diabetic Endothelial Cell Glycogen Synthase Kinase 3beta Activation Induces VCAM1 Ectodomain Shedding JOURNAL Int J Mol Sci 24 (18), 14105 (2023) PUBMED 37762417 REMARK GeneRIF: Diabetic Endothelial Cell Glycogen Synthase Kinase 3beta Activation Induces VCAM1 Ectodomain Shedding. Publication Status: Online-Only REFERENCE 3 (residues 1 to 420) AUTHORS Sunilkumar S, VanCleave AM, McCurry CM, Toro AL, Stevens SA, Kimball SR and Dennis MD. TITLE REDD1-dependent GSK3beta dephosphorylation promotes NF-kappaB activation and macrophage infiltration in the retina of diabetic mice JOURNAL J Biol Chem 299 (8), 104991 (2023) PUBMED 37392853 REMARK GeneRIF: REDD1-dependent GSK3beta dephosphorylation promotes NF-kappaB activation and macrophage infiltration in the retina of diabetic mice. REFERENCE 4 (residues 1 to 420) AUTHORS Cai X, Zhao Y, Yang Y, Wu X, Zhang L, Ma JA, Ji J, Bostrom KI and Yao Y. TITLE GSK3beta Inhibition Ameliorates Atherosclerotic Calcification JOURNAL Int J Mol Sci 24 (14), 11638 (2023) PUBMED 37511396 REMARK GeneRIF: GSK3beta Inhibition Ameliorates Atherosclerotic Calcification. Publication Status: Online-Only REFERENCE 5 (residues 1 to 420) AUTHORS Sun L, Zhang X, Wu S, Liu Y, Guerrero-Juarez CF, Liu W, Huang J, Yao Q, Yin M, Li J, Ramos R, Liao Y, Wu R, Xia T, Zhang X, Yang Y, Li F, Heng S, Zhang W, Yang M, Tzeng CM, Ji C, Plikus MV, Gallo RL and Zhang LJ. TITLE Dynamic interplay between IL-1 and WNT pathways in regulating dermal adipocyte lineage cells during skin development and wound regeneration JOURNAL Cell Rep 42 (6), 112647 (2023) PUBMED 37330908 REFERENCE 6 (residues 1 to 420) AUTHORS Sakanaka C and Williams LT. TITLE Functional domains of axin. Importance of the C terminus as an oligomerization domain JOURNAL J Biol Chem 274 (20), 14090-14093 (1999) PUBMED 10318824 REFERENCE 7 (residues 1 to 420) AUTHORS Diehl JA, Cheng M, Roussel MF and Sherr CJ. TITLE Glycogen synthase kinase-3beta regulates cyclin D1 proteolysis and subcellular localization JOURNAL Genes Dev 12 (22), 3499-3511 (1998) PUBMED 9832503 REFERENCE 8 (residues 1 to 420) AUTHORS Hart MJ, de los Santos R, Albert IN, Rubinfeld B and Polakis P. TITLE Downregulation of beta-catenin by human Axin and its association with the APC tumor suppressor, beta-catenin and GSK3 beta JOURNAL Curr Biol 8 (10), 573-581 (1998) PUBMED 9601641 REFERENCE 9 (residues 1 to 420) AUTHORS Behrens J, Jerchow BA, Wurtele M, Grimm J, Asbrand C, Wirtz R, Kuhl M, Wedlich D and Birchmeier W. TITLE Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta JOURNAL Science 280 (5363), 596-599 (1998) PUBMED 9554852 REFERENCE 10 (residues 1 to 420) AUTHORS Cohen,J.S. TITLE Provide fluoxetine information vital to clinicians JOURNAL J Clin Psychiatry 56 (12), 591 (1995) PUBMED 8530339 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC120020.9 and AC154284.1. On Dec 17, 2003 this sequence version replaced XP_358795.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB066114.1, AK154293.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..420 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="16" /map="16 26.54 cM" Protein 1..420 /product="glycogen synthase kinase-3 beta isoform 1" /EC_number="2.7.11.1" /EC_number="2.7.11.26" /note="serine/threonine-protein kinase GSK3B" /calculated_mol_wt=46579 Region 1..53 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WV60.2)" Site 9 /site_type="phosphorylation" /note="Phosphoserine, by PKB/AKT1, RPS6KA3 and SGK3. /evidence=ECO:0000269|PubMed:22057101, ECO:0000269|PubMed:23395175, ECO:0000269|PubMed:27827363; propagated from UniProtKB/Swiss-Prot (Q9WV60.2)" Region 51..343 /region_name="STKc_GSK3" /note="The catalytic domain of the Serine/Threonine Kinase, Glycogen Synthase Kinase 3; cd14137" /db_xref="CDD:271039" Site order(62..66,70,83,85,96,110,132..135,138,140..141,181, 183,185..186,188,200,203,214,216..219,221,259) /site_type="active" /db_xref="CDD:271039" Site order(62..65,70,83,85,110,132..135,138,183,185..186,188, 200) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271039" Site order(66..67,212..220,228..229,260..264,266..267,271, 291..294) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:271039" Site order(96,140,181,183,203,214,216..219,221,259) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271039" Site order(199..209,211..221) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271039" Site 216 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:P49841; propagated from UniProtKB/Swiss-Prot (Q9WV60.2)" Site order(228,263..264,266..267,270..271,291..296) /site_type="other" /note="axin binding site [polypeptide binding]" /db_xref="CDD:271039" Region 385..420 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WV60.2)" Site 389 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:15345747; propagated from UniProtKB/Swiss-Prot (Q9WV60.2)" CDS 1..420 /gene="Gsk3b" /gene_synonym="7330414F15Rik; 8430431H08Rik; GSK-3; GSK-3beta; GSK3" /coded_by="NM_019827.7:1526..2788" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS28163.1" /db_xref="GeneID:56637" /db_xref="MGI:MGI:1861437" ORIGIN 1 msgrprttsf aesckpvqqp safgsmkvsr dkdgskvttv vatpgqgpdr pqevsytdtk 61 vigngsfgvv yqaklcdsge lvaikkvlqd krfknrelqi mrkldhcniv rlryffyssg 121 ekkdevylnl vldyvpetvy rvarhysrak qtlpviyvkl ymyqlfrsla yihsfgichr 181 dikpqnllld pdtavlklcd fgsakqlvrg epnvsyicsr yyrapelifg atdytssidv 241 wsagcvlael llgqpifpgd sgvdqlveii kvlgtptreq iremnpnyte fkfpqikahp 301 wtkvfrprtp peaialcsrl leytptarlt pleacahsff delrdpnvkl pngrdtpalf 361 nfttqelssn pplatilipp hariqaaasp panataasdt nagdrgqtnn aasasasnst // LOCUS NP_001349213 533 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 10 [Mus musculus]. ACCESSION NP_001349213 XP_017173278 VERSION NP_001349213.1 DBSOURCE REFSEQ: accession NM_001362284.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 533) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 533) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 533) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 533) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 533) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 533) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 533) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 533) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 533) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 533) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173278.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.205175.1, SRR7345562.1523646.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..533 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..533 /product="CUGBP Elav-like family member 4 isoform 10" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56727 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..>433 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..533 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362284.1:531..2132" /note="isoform 10 is encoded by transcript variant 16" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt drhpgherlp 481 drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgqsn ppqsraelgi kft // LOCUS NP_001349228 504 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 23 [Mus musculus]. ACCESSION NP_001349228 VERSION NP_001349228.1 DBSOURCE REFSEQ: accession NM_001362299.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 504) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 504) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 504) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 504) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 504) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 504) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 504) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 504) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 504) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 504) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.60217.1, SRR1660819.115783.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..504 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..504 /product="CUGBP Elav-like family member 4 isoform 23" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53800 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 415..493 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..504 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362299.1:531..2045" /note="isoform 23 is encoded by transcript variant 28" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgnvisskv fvdratnqsk cfgfvsfdnp asaqtaiqam 481 ngfqigmkrl kvqlkrpkda nrpy // LOCUS NP_001193312 333 aa linear ROD 09-OCT-2023 DEFINITION mitochondrial antiviral-signaling protein isoform 2 [Mus musculus]. ACCESSION NP_001193312 VERSION NP_001193312.1 DBSOURCE REFSEQ: accession NM_001206383.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 333) AUTHORS Liu F, Zhuang W, Song B, Yang Y, Liu J, Zheng Y, Liu B, Zheng J, Zhao W and Gao C. TITLE MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade JOURNAL Cell Mol Immunol 20 (10), 1186-1202 (2023) PUBMED 37582970 REMARK GeneRIF: MAVS-loaded unanchored Lys63-linked polyubiquitin chains activate the RIG-I-MAVS signaling cascade. REFERENCE 2 (residues 1 to 333) AUTHORS Ingle H, Makimaa H, Aggarwal S, Deng H, Foster L, Li Y, Kennedy EA, Peterson ST, Wilen CB, Lee S, Suthar MS and Baldridge MT. TITLE IFN-lambda derived from nonsusceptible enterocytes acts on tuft cells to limit persistent norovirus JOURNAL Sci Adv 9 (37), eadi2562 (2023) PUBMED 37703370 REFERENCE 3 (residues 1 to 333) AUTHORS He QQ, Huang Y, Nie L, Ren S, Xu G, Deng F, Cheng Z, Zuo Q, Zhang L, Cai H, Wang Q, Wang F, Ren H, Yan H, Xu K, Zhou L, Lu M, Lu Z, Zhu Y and Liu S. TITLE MAVS integrates glucose metabolism and RIG-I-like receptor signaling JOURNAL Nat Commun 14 (1), 5343 (2023) PUBMED 37660168 REMARK GeneRIF: MAVS integrates glucose metabolism and RIG-I-like receptor signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 333) AUTHORS Li J, Zhang R, Wang C, Zhu J, Ren M, Jiang Y, Hou X, Du Y, Wu Q, Qi S, Li L, Chen S, Yang H and Hou F. TITLE WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response JOURNAL Nat Commun 14 (1), 4824 (2023) PUBMED 37563140 REMARK GeneRIF: WDR77 inhibits prion-like aggregation of MAVS to limit antiviral innate immune response. Erratum:[Nat Commun. 2023 Sep 25;14(1):5960. PMID: 37749076] Publication Status: Online-Only REFERENCE 5 (residues 1 to 333) AUTHORS Wang H, Sun W, Traba J, Wu J, Qi CF, Amo L, Kole HK, Scott B, Singh K, Sack MN and Bolland S. TITLE MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells JOURNAL Immunohorizons 7 (8), 587-599 (2023) PUBMED 37610299 REMARK GeneRIF: MAVS Positively Regulates Mitochondrial Integrity and Metabolic Fitness in B Cells. REFERENCE 6 (residues 1 to 333) AUTHORS Kumar H, Kawai T, Kato H, Sato S, Takahashi K, Coban C, Yamamoto M, Uematsu S, Ishii KJ, Takeuchi O and Akira S. TITLE Essential role of IPS-1 in innate immune responses against RNA viruses JOURNAL J Exp Med 203 (7), 1795-1803 (2006) PUBMED 16785313 REMARK GeneRIF: IPS-1 is the sole adapter in both retinoic acid-inducible gene (RIG-I) and melanoma differentiation-associated gene 5 (Mda5) signaling that mediates effective responses against a variety of RNA viruses. REFERENCE 7 (residues 1 to 333) AUTHORS Sun Q, Sun L, Liu HH, Chen X, Seth RB, Forman J and Chen ZJ. TITLE The specific and essential role of MAVS in antiviral innate immune responses JOURNAL Immunity 24 (5), 633-642 (2006) PUBMED 16713980 REFERENCE 8 (residues 1 to 333) AUTHORS Meylan E, Curran J, Hofmann K, Moradpour D, Binder M, Bartenschlager R and Tschopp J. TITLE Cardif is an adaptor protein in the RIG-I antiviral pathway and is targeted by hepatitis C virus JOURNAL Nature 437 (7062), 1167-1172 (2005) PUBMED 16177806 REFERENCE 9 (residues 1 to 333) AUTHORS Xu LG, Wang YY, Han KJ, Li LY, Zhai Z and Shu HB. TITLE VISA is an adapter protein required for virus-triggered IFN-beta signaling JOURNAL Mol Cell 19 (6), 727-740 (2005) PUBMED 16153868 REMARK GeneRIF: Data suggest that VISA is critically involved in both virus-triggered TLR3-independent and TLR3-mediated antiviral interferon signaling. REFERENCE 10 (residues 1 to 333) AUTHORS Seth RB, Sun L, Ea CK and Chen ZJ. TITLE Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-kappaB and IRF 3 JOURNAL Cell 122 (5), 669-682 (2005) PUBMED 16125763 REMARK GeneRIF: The overexpression of mitochondrial antiviral signaling(MAVS)induces the expression of IFN-beta through activation of NF-kappaB and IRF 3, thus boosting antiviral immunity. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL808128.4. Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which has a shorter N-terminus, compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784646.730832.1, SRR17253014.2900316.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 16125763; reported by MitoCarta ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..333 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.3 cM" Protein 1..333 /product="mitochondrial antiviral-signaling protein isoform 2" /note="IFN-beta promoter stimulator-1; mitochondrial anti-viral signaling protein; virus-induced signaling adapter; CARD adapter inducing interferon beta; interferon beta promoter stimulator protein 1" /calculated_mol_wt=34258 CDS 1..333 /gene="Mavs" /gene_synonym="cardif; D430028G21Rik; IPS-1; Visa" /coded_by="NM_001206383.1:459..1460" /note="isoform 2 is encoded by transcript variant 4" /db_xref="GeneID:228607" /db_xref="MGI:MGI:2444773" ORIGIN 1 msggslipsp nqqalspqps rehqeqepel ggahaanvas vpiatygpvs ptvsfqplpr 61 talrtnllsg vtvsalsadt slsssstgsa fakgagdqak aatcfsttlt nsvttssvps 121 prlvpvktms sklplsskst aamtstvltn tapsklpsns vyagtvpsrv pasvakapan 181 tippernskq aketpegpat kvttggnqtg pnssirslhs gpemskpgvl vsqldepfsa 241 csvdlaisps sslvsepnhg peeneyssfr iqvdespsad llgspeplat qqpqeeeehc 301 assmpwakwl gatsallavf lavmlyrsrr laq // LOCUS NP_001394502 464 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 1 [Mus musculus]. ACCESSION NP_001394502 XP_030110376 VERSION NP_001394502.1 DBSOURCE REFSEQ: accession NM_001407573.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 464) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 464) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 464) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 464) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 464) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 464) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 464) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 464) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_030110376.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.3686377.1, SRR14995047.2033824.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..464 /product="mitogen-activated protein kinase 10 isoform 1" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=52387 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Region 405..464 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..464 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407573.1:810..2204" /note="isoform 1 is encoded by transcript variant 8" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccr // LOCUS NP_001346166 687 aa linear ROD 09-OCT-2023 DEFINITION carbohydrate-responsive element-binding protein isoform 2 [Mus musculus]. ACCESSION NP_001346166 XP_006504546 VERSION NP_001346166.1 DBSOURCE REFSEQ: accession NM_001359237.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 687) AUTHORS Li L, Long J, Mise K, Poungavrin N, Lorenzi PL, Mahmud I, Tan L, Saha PK, Kanwar YS, Chang BH and Danesh FR. TITLE The transcription factor ChREBP links mitochondrial lipidomes to mitochondrial morphology and progression of diabetic kidney disease JOURNAL J Biol Chem 299 (9), 105185 (2023) PUBMED 37611830 REMARK GeneRIF: The transcription factor ChREBP links mitochondrial lipidomes to mitochondrial morphology and progression of diabetic kidney disease. REFERENCE 2 (residues 1 to 687) AUTHORS Sargsyan A, Doridot L, Hannou SA, Tong W, Srinivasan H, Ivison R, Monn R, Kou HH, Haldeman JM, Arlotto M, White PJ, Grimsrud PA, Astapova I, Tsai LT and Herman MA. TITLE HGFAC is a ChREBP-regulated hepatokine that enhances glucose and lipid homeostasis JOURNAL JCI Insight 8 (1), e153740 (2023) PUBMED 36413406 REMARK GeneRIF: HGFAC is a ChREBP-regulated hepatokine that enhances glucose and lipid homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 687) AUTHORS Seo E, Nam H and Jun HS. TITLE Reactive oxygen species induce HNF-4alpha expression via the ASK1-CREB pathway, promoting ChREBP expression and lipogenesis in hepatocytes JOURNAL Life Sci 310, 121042 (2022) PUBMED 36208661 REMARK GeneRIF: Reactive oxygen species induce HNF-4alpha expression via the ASK1-CREB pathway, promoting ChREBP expression and lipogenesis in hepatocytes. REFERENCE 4 (residues 1 to 687) AUTHORS Thevkar-Nagesh P, Habault J, Voisin M, Ruff SE, Ha S, Ruoff R, Chen X, Rawal S, Zahr T, Szabo G, Rogatsky I, Fisher EA and Garabedian MJ. TITLE Transcriptional regulation of Acsl1 by CHREBP and NF-kappa B in macrophages during hyperglycemia and inflammation JOURNAL PLoS One 17 (9), e0272986 (2022) PUBMED 36054206 REMARK GeneRIF: Transcriptional regulation of Acsl1 by CHREBP and NF-kappa B in macrophages during hyperglycemia and inflammation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 687) AUTHORS Katz LS, Brill G, Zhang P, Kumar A, Baumel-Alterzon S, Honig LB, Gomez-Banoy N, Karakose E, Tanase M, Doridot L, Alvarsson A, Davenport B, Wang P, Lambertini L, Stanley SA, Homann D, Stewart AF, Lo JC, Herman MA, Garcia-Ocana A and Scott DK. TITLE Maladaptive positive feedback production of ChREBPbeta underlies glucotoxic beta-cell failure JOURNAL Nat Commun 13 (1), 4423 (2022) PUBMED 35908073 REMARK Erratum:[Nat Commun. 2022 Sep 27;13(1):5681. PMID: 36167859] Publication Status: Online-Only REFERENCE 6 (residues 1 to 687) AUTHORS Kawaguchi T, Takenoshita M, Kabashima T and Uyeda K. TITLE Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein JOURNAL Proc Natl Acad Sci U S A 98 (24), 13710-13715 (2001) PUBMED 11698644 REFERENCE 7 (residues 1 to 687) AUTHORS Cairo S, Merla G, Urbinati F, Ballabio A and Reymond A. TITLE WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network JOURNAL Hum Mol Genet 10 (6), 617-627 (2001) PUBMED 11230181 REFERENCE 8 (residues 1 to 687) AUTHORS Valero MC, de Luis O, Cruces J and Perez Jurado LA. TITLE Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s) JOURNAL Genomics 69 (1), 1-13 (2000) PUBMED 11013070 REFERENCE 9 (residues 1 to 687) AUTHORS de Luis O, Valero MC and Jurado LA. TITLE WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog JOURNAL Eur J Hum Genet 8 (3), 215-222 (2000) PUBMED 10780788 REFERENCE 10 (residues 1 to 687) AUTHORS Billin AN, Eilers AL, Queva C and Ayer DE. TITLE Mlx, a novel Max-like BHLHZip protein that interacts with the Max network of transcription factors JOURNAL J Biol Chem 274 (51), 36344-36350 (1999) PUBMED 10593926 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC084109.2 and AC024607.3. On Dec 29, 2017 this sequence version replaced XP_006504546.1. Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: JQ437838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..687 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 75.0 cM" Protein 1..687 /product="carbohydrate-responsive element-binding protein isoform 2" /note="putative hepatic transcription factor; MLX interactor; Williams-Beuren syndrome chromosome region 14 homolog; Max-like protein; carbohydrate-responsive element-binding protein; MLX interacting protein-like beta" /calculated_mol_wt=74763 Region <1..19 /region_name="NES2-NLS_ChREBP-like" /note="nuclear export signal 2 (NES2) and nuclear import signal (NLS) domains found in carbohydrate-responsive element-binding protein (ChREBP), MLX-interacting protein (MLXIP), and similar proteins; cl45909" /db_xref="CDD:459254" Region 232..>479 /region_name="PHA03307" /note="transcriptional regulator ICP4; Provisional" /db_xref="CDD:223039" Region 481..556 /region_name="bHLHzip_MLXIPL" /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain found in MLX-interacting protein-like (MLXIPL) and similar proteins; cd19689" /db_xref="CDD:381532" Site order(486,488..490,492..494,496..497,501,523..524) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:381532" Site order(500,503..504,506..507,510..512,525,528..529,532, 534..536,538..539,541..542,545,548..549,552..553,555..556) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:381532" CDS 1..687 /gene="Mlxipl" /gene_synonym="bHLHd14; ChREBP; Mlx; Wbscr14; WS-bHLH" /coded_by="NM_001359237.1:410..2473" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:58805" /db_xref="MGI:MGI:1927999" ORIGIN 1 mreyhkwriy ykkrlrkssr egdflapkqv eggwppperw ceqlfssvvp vllggseeep 61 ggrqlldldc flsdisdtlf tmtqpspssl qlppedayvg nadmiqpdlt plqpslddfm 121 eisdfftnyr ppqtptssny iespsfgpma dslfssgila pempspasss sssgmtphsg 181 ntrlqarnsc sgpldpnpfl ssefllpedp ktkippapgp tpllpfptpv kvhglepctp 241 spfptmappp sllpeeslls arfpftsapp apgvstlpap ttfvptpqpg pgpvpfsvdh 301 lphgylepvf gphftvpqgm qprckpssps pggqkasppt lasataspta tatardnnpc 361 ltqllraakp eqalepptmp gtllrppesp qdtvseipra raffppipap tpprpppgpa 421 tlapprslvv pkaerlsppa ssgserrlsg dlnsiqpsga lsvhlsppqt vlsrgrvdnn 481 kmenrrithi saeqkrrfni klgfdtlhgl vstlsaqpsl kvskattlqk taeyilmlqq 541 eraamqeeaq qlrdeieeln aainlcqqql patgvpithq rfdqmrdmfd dyvrtrtlhn 601 wkfwvfsili rplfesfngm vstaslhslr qtslawleqy cslpalrptv lnslrqlsts 661 tsiltdpslv peqatravte gtlgrpl // LOCUS NP_034764 135 aa linear ROD 09-OCT-2023 DEFINITION fatty acid-binding protein 5 isoform 1 [Mus musculus]. ACCESSION NP_034764 VERSION NP_034764.1 DBSOURCE REFSEQ: accession NM_010634.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 135) AUTHORS Penman SL, Roeder NM, Berthold EC, Senetra AS, Marion M, Richardson BJ, White O, Fearby NL, McCurdy CR, Hamilton J, Sharma A and Thanos PK. TITLE FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice JOURNAL Pharmacol Biochem Behav 231, 173633 (2023) PUBMED 37716413 REMARK GeneRIF: FABP5 is important for cognitive function and is an important regulator of the physiological effects and pharmacokinetics of acute Delta9 tetrahydrocannabinol inhalation in mice. REFERENCE 2 (residues 1 to 135) AUTHORS Chen Z, He C, Gao Z, Li Y, He Q, Wang Y and Cai C. TITLE Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5 JOURNAL ESC Heart Fail 10 (3), 1677-1688 (2023) PUBMED 36788730 REMARK GeneRIF: Polypyrimidine tract binding protein 1 exacerbates cardiac fibrosis by regulating fatty acid-binding protein 5. REFERENCE 3 (residues 1 to 135) AUTHORS Guo Q, Kawahata I, Cheng A, Wang H, Jia W, Yoshino H and Fukunaga K. TITLE Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons JOURNAL Redox Biol 59, 102547 (2023) PUBMED 36481733 REMARK GeneRIF: Fatty acid-binding proteins 3 and 5 are involved in the initiation of mitochondrial damage in ischemic neurons. REFERENCE 4 (residues 1 to 135) AUTHORS Reynolds JM, Liu Q, Brittingham KC, Liu Y, Gruenthal M, Gorgun CZ, Hotamisligil GS, Stout RD and Suttles J. TITLE Deficiency of fatty acid-binding proteins in mice confers protection from development of experimental autoimmune encephalomyelitis JOURNAL J Immunol 179 (1), 313-321 (2007) PUBMED 17579051 REMARK GeneRIF: Metabolic-inflammatory pathway cross-regulation by epidermal-type FABP contributes to adaptive immune responses and subsequent autoimmune inflammation. REFERENCE 5 (residues 1 to 135) AUTHORS Maeda K, Cao H, Kono K, Gorgun CZ, Furuhashi M, Uysal KT, Cao Q, Atsumi G, Malone H, Krishnan B, Minokoshi Y, Kahn BB, Parker RA and Hotamisligil GS. TITLE Adipocyte/macrophage fatty acid binding proteins control integrated metabolic responses in obesity and diabetes JOURNAL Cell Metab 1 (2), 107-119 (2005) PUBMED 16054052 REFERENCE 6 (residues 1 to 135) AUTHORS Owada Y, Suzuki R, Iwasa H, Spener F and Kondo H. TITLE Localization of epidermal-type fatty acid binding protein in the thymic epithelial cells of mice JOURNAL Histochem Cell Biol 117 (1), 55-60 (2002) PUBMED 11819097 REFERENCE 7 (residues 1 to 135) AUTHORS Yanase H, Shimizu H, Kanda T, Fujii H and Iwanaga T. TITLE Cellular localization of the diazepam binding inhibitor (DBI) in the gastrointestinal tract of mice and its coexistence with the fatty acid binding protein (FABP) JOURNAL Arch Histol Cytol 64 (4), 449-460 (2001) PUBMED 11757913 REFERENCE 8 (residues 1 to 135) AUTHORS Hertzel AV and Bernlohr DA. TITLE Cloning and chromosomal location of the murine keratinocyte lipid-binding protein gene JOURNAL Gene 221 (2), 235-243 (1998) PUBMED 9795232 REFERENCE 9 (residues 1 to 135) AUTHORS Bleck B, Hohoff C, Binas B, Rustow B, Dixkens C, Hameister H, Borchers T and Spener F. TITLE Cloning and chromosomal localisation of the murine epidermal-type fatty acid binding protein gene (Fabpe) JOURNAL Gene 215 (1), 123-130 (1998) PUBMED 9666100 REFERENCE 10 (residues 1 to 135) AUTHORS Krieg P, Feil S, Furstenberger G and Bowden GT. TITLE Tumor-specific overexpression of a novel keratinocyte lipid-binding protein. Identification and characterization of a cloned sequence activated during multistage carcinogenesis in mouse skin JOURNAL J Biol Chem 268 (23), 17362-17369 (1993) PUBMED 8349619 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC157379.7, AK011551.1 and BE987062.1. Summary: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. In humans this gene has been associated with psoriasis and type 2 diabetes. In mouse deficiency of this gene in combination with a deficiency in Fabp4 confers protection against atherosclerosis, diet-induced obesity, insulin resistance and experimental autoimmune encephalomyelitis (the mouse model for multiple sclerosis). Alternative splicing results in multiple transcript variants that encode different protein isoforms. The mouse genome contains many pseudogenes similar to this locus. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X70100.1, CK792559.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..135 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 2.47 cM" Protein 1..135 /product="fatty acid-binding protein 5 isoform 1" /note="fatty acid-binding protein, epidermal; epithelial fatty acid-binding protein; keratinocyte lipid-binding protein; epidermal-type fatty acid-binding protein; psoriasis-associated fatty acid-binding protein homolog" /calculated_mol_wt=15006 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:Q01469; propagated from UniProtKB/Swiss-Prot (Q05816.3)" Site 3 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55053; propagated from UniProtKB/Swiss-Prot (Q05816.3)" Region 6..133 /region_name="FABP5" /note="fatty acid binding protein 5; cd19468" /db_xref="CDD:381243" Site order(7,19,22..23,26,28,32..33,35..36,39,41,43,45,52,54, 56,58,60..61,63..65,67,75..79,81,94,96,107,109,116,118, 120,129,131) /site_type="other" /note="ligand binding cavity [chemical binding]" /db_xref="CDD:381243" Site order(22..23,26,32,36,41,56,60..61,78..79,107,118,120,129, 131) /site_type="other" /note="endocannabinoid binding site [chemical binding]" /db_xref="CDD:381243" Region 24..34 /region_name="Nuclear localization signal. /evidence=ECO:0000250|UniProtKB:Q01469" /note="propagated from UniProtKB/Swiss-Prot (Q05816.3)" Site 131 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q01469; propagated from UniProtKB/Swiss-Prot (Q05816.3)" CDS 1..135 /gene="Fabp5" /gene_synonym="E-FABP; Fabpe; Klbp; mal1; PA-FABP" /coded_by="NM_010634.3:56..463" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS38388.1" /db_xref="GeneID:16592" /db_xref="MGI:MGI:101790" ORIGIN 1 maslkdlegk wrlmeshgfe eymkelgvgl alrkmaamak pdciitcdgn nitvktestv 61 kttvfscnlg ekfdettadg rktetvctfq dgalvqhqqw dgkestitrk lkdgkmivec 121 vmnnatctrv yekvq // LOCUS NP_084108 315 aa linear ROD 09-OCT-2023 DEFINITION DDRGK domain-containing protein 1 isoform a precursor [Mus musculus]. ACCESSION NP_084108 XP_485067 XP_907023 XP_907026 XP_907027 XP_923340 XP_930671 XP_930674 XP_930676 XP_999112 XP_999134 XP_999153 XP_999171 VERSION NP_084108.1 DBSOURCE REFSEQ: accession NM_029832.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 315) AUTHORS Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A and Zhao J. TITLE Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia JOURNAL Int J Biol Sci 19 (15), 4709-4725 (2023) PUBMED 37781516 REMARK GeneRIF: Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 315) AUTHORS Tandra V, Anderson T, Ayala JD, Weintraub NL, Singh N, Li H and Li J. TITLE Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis JOURNAL Cells 12 (15), 1923 (2023) PUBMED 37566002 REMARK GeneRIF: Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 315) AUTHORS Chen F, Sheng L, Zhou T, Yan L, Loveless R, Li H, Teng Y and Cai Y. TITLE Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling JOURNAL J Exp Clin Cancer Res 42 (1), 110 (2023) PUBMED 37131258 REMARK GeneRIF: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 315) AUTHORS Li H, Yu Z, Niu Z, Cheng Y, Wei Z, Cai Y, Ma F, Hu L, Zhu J and Zhang W. TITLE A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila JOURNAL Cell Mol Life Sci 80 (5), 129 (2023) PUBMED 37086384 REMARK GeneRIF: A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila. Publication Status: Online-Only REFERENCE 5 (residues 1 to 315) AUTHORS Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B and Bae Y. TITLE DDRGK1 is required for the proper development and maintenance of the growth plate cartilage JOURNAL Hum Mol Genet 31 (16), 2820-2830 (2022) PUBMED 35377455 REFERENCE 6 (residues 1 to 315) AUTHORS Yoo HM, Kang SH, Kim JY, Lee JE, Seong MW, Lee SW, Ka SH, Sou YS, Komatsu M, Tanaka K, Lee ST, Noh DY, Baek SH, Jeon YJ and Chung CH. TITLE Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development JOURNAL Mol Cell 56 (2), 261-274 (2014) PUBMED 25219498 REFERENCE 7 (residues 1 to 315) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 REFERENCE 8 (residues 1 to 315) AUTHORS Lemaire K, Moura RF, Granvik M, Igoillo-Esteve M, Hohmeier HE, Hendrickx N, Newgard CB, Waelkens E, Cnop M and Schuit F. TITLE Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis JOURNAL PLoS One 6 (4), e18517 (2011) PUBMED 21494687 REMARK GeneRIF: These data suggest that UFM1-UFBP1 participate in preventing endoplasmic reticulum stress-induced apoptosis in protein secretory cells. Publication Status: Online-Only REFERENCE 9 (residues 1 to 315) AUTHORS Wu J, Lei G, Mei M, Tang Y and Li H. TITLE A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling JOURNAL J Biol Chem 285 (20), 15126-15136 (2010) PUBMED 20228063 REFERENCE 10 (residues 1 to 315) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL772162.4 and AL731707.12. On or before Jul 17, 2006 this sequence version replaced XP_923340.1, XP_930671.1, XP_930676.1, XP_930674.1, XP_485067.1, XP_907023.1, XP_907027.1, XP_907026.1, XP_999171.1, XP_999153.1, XP_999134.1, XP_999112.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC115616.2, ERR3835353.147285.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..315 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.24 cM" Protein 1..315 /product="DDRGK domain-containing protein 1 isoform a precursor" /note="DDRGK domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain; UFM1-binding and PCI domain-containing protein 1" /calculated_mol_wt=32910 Region 1..115 /region_name="Mediates interaction with CDK5RAP3. /evidence=ECO:0000250|UniProtKB:Q96HY6" /note="propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" sig_peptide 1..28 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" /calculated_mol_wt=3086 mat_peptide 29..315 /product="DDRGK domain-containing protein 1. /id=PRO_0000021034" /note="propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" /calculated_mol_wt=32910 Region 30..184 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" Site 73 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q96HY6; propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" Region 116..304 /region_name="DDRGK" /note="DDRGK domain; pfam09756" /db_xref="CDD:370664" Region 119..217 /region_name="Mediates interaction with TRIP4. /evidence=ECO:0000250|UniProtKB:Q96HY6" /note="propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" Region 217..315 /region_name="Mediates interaction with UFL1. /evidence=ECO:0000250|UniProtKB:Q96HY6" /note="propagated from UniProtKB/Swiss-Prot (Q80WW9.2)" CDS 1..315 /gene="Ddrgk1" /gene_synonym="1110001I20Rik; 2600009E05Rik; Ufbp1" /coded_by="NM_029832.3:56..1003" /note="isoform a precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS38243.1" /db_xref="GeneID:77006" /db_xref="MGI:MGI:1924256" ORIGIN 1 mvgpwvylva avlliglilf ltrsrgraaa adgeplhnee eragagqvgr slpqeseeqr 61 tgsrprrrrd lgsrlqaqrr aqrvawedgd envgqtvipa qeeegiekpa evhptgkiga 121 kklrkleekq arkaqreaee aereerkrle sqreaewkke eerlrlkeeq keeeerkaqe 181 eqarreheey lklkeafvve eegvsetmte eqshsfltef inyikkskvv lledlafqmg 241 lrtqdainri qdlltegtlt gviddrgkfi yitpeelaav anfirqrgrv sitelaqasn 301 sliswgqdlp aqasa // LOCUS NP_084047 375 aa linear ROD 09-OCT-2023 DEFINITION G-protein coupled estrogen receptor 1 [Mus musculus]. ACCESSION NP_084047 XP_355659 VERSION NP_084047.2 DBSOURCE REFSEQ: accession NM_029771.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 375) AUTHORS Sohn P, McLaughlin MR, Krishnan P, Wu W, Slak Rupnik M, Takasu A, Senda T, Lee CC, Kono T and Evans-Molina C. TITLE Stromal Interaction Molecule 1 Maintains beta-Cell Identity and Function in Female Mice Through Preservation of G-Protein-Coupled Estrogen Receptor 1 Signaling JOURNAL Diabetes 72 (10), 1433-1445 (2023) PUBMED 37478155 REMARK GeneRIF: Stromal Interaction Molecule 1 Maintains beta-Cell Identity and Function in Female Mice Through Preservation of G-Protein-Coupled Estrogen Receptor 1 Signaling. REFERENCE 2 (residues 1 to 375) AUTHORS Zhang C, Niu JG, Kong XR, Mi XJ, Liu Q, Chen FF, Rong WF and Liu J. TITLE G protein-coupled estrogen receptor 1 deficiency impairs adult hippocampal neurogenesis in mice with schizophrenia JOURNAL J Chem Neuroanat 132, 102319 (2023) PUBMED 37495162 REMARK GeneRIF: G protein-coupled estrogen receptor 1 deficiency impairs adult hippocampal neurogenesis in mice with schizophrenia. Review article REFERENCE 3 (residues 1 to 375) AUTHORS Xu F, Ma J, Wang X, Wang X, Fang W, Sun J, Li Z and Liu J. TITLE The Role of G Protein-Coupled Estrogen Receptor (GPER) in Vascular Pathology and Physiology JOURNAL Biomolecules 13 (9), 1410 (2023) PUBMED 37759810 REMARK GeneRIF: The Role of G Protein-Coupled Estrogen Receptor (GPER) in Vascular Pathology and Physiology. Review article Publication Status: Online-Only REFERENCE 4 (residues 1 to 375) AUTHORS Pal U, Manjegowda MC, Singh N, Saikia S, Philip BS, Jyoti Kalita D, Kumar Rai A, Sarma A, Raphael V, Modi D, Chandra Kataki A and Mukund Limaye A. TITLE The G-protein-coupled estrogen receptor, a gene co-expressed with ERalpha in breast tumors, is regulated by estrogen-ERalpha signalling in ERalpha positive breast cancer cells JOURNAL Gene 877, 147548 (2023) PUBMED 37279863 REMARK GeneRIF: The G-protein-coupled estrogen receptor, a gene co-expressed with ERalpha in breast tumors, is regulated by estrogen-ERalpha signalling in ERalpha positive breast cancer cells. REFERENCE 5 (residues 1 to 375) AUTHORS da Silva FER, Cordeiro RC, de Carvalho Lima CN, Cardozo PL, Vasconcelos GS, Monte AS, Sanders LLO, Vasconcelos SMM, de Lucena DF, Cruz BF, Nicolato R, Seeman MV, Ribeiro FM and Macedo DS. TITLE Sex and the Estrous-Cycle Phase Influence the Expression of G Protein-Coupled Estrogen Receptor 1 (GPER) in Schizophrenia: Translational Evidence for a New Target JOURNAL Mol Neurobiol 60 (7), 3650-3663 (2023) PUBMED 36917419 REMARK GeneRIF: Sex and the Estrous-Cycle Phase Influence the Expression of G Protein-Coupled Estrogen Receptor 1 (GPER) in Schizophrenia: Translational Evidence for a New Target. REFERENCE 6 (residues 1 to 375) AUTHORS Wang C, Dehghani B, Magrisso IJ, Rick EA, Bonhomme E, Cody DB, Elenich LA, Subramanian S, Murphy SJ, Kelly MJ, Rosenbaum JS, Vandenbark AA and Offner H. TITLE GPR30 contributes to estrogen-induced thymic atrophy JOURNAL Mol Endocrinol 22 (3), 636-648 (2008) PUBMED 18063692 REMARK GeneRIF: GPR30 is indispensable for thymocyte apoptosis that preferentially occurs in T-cell receptor beta chain double-positive thymocytes. REFERENCE 7 (residues 1 to 375) AUTHORS Filardo E, Quinn J, Pang Y, Graeber C, Shaw S, Dong J and Thomas P. TITLE Activation of the novel estrogen receptor G protein-coupled receptor 30 (GPR30) at the plasma membrane JOURNAL Endocrinology 148 (7), 3236-3245 (2007) PUBMED 17379646 REMARK GeneRIF: Results suggest that GPR30 functions as a plasma membrane receptor. REFERENCE 8 (residues 1 to 375) AUTHORS Wang J, Scully K, Zhu X, Cai L, Zhang J, Prefontaine GG, Krones A, Ohgi KA, Zhu P, Garcia-Bassets I, Liu F, Taylor H, Lozach J, Jayes FL, Korach KS, Glass CK, Fu XD and Rosenfeld MG. TITLE Opposing LSD1 complexes function in developmental gene activation and repression programmes JOURNAL Nature 446 (7138), 882-887 (2007) PUBMED 17392792 REFERENCE 9 (residues 1 to 375) AUTHORS Ylikomi T, Vienonen A and Ahola TM. TITLE G protein-coupled receptor 30 down-regulates cofactor expression and interferes with the transcriptional activity of glucocorticoid JOURNAL Eur J Biochem 271 (21), 4159-4168 (2004) PUBMED 15511221 REMARK GeneRIF: G protein-coupled receptor 30 down-regulates cofactor expression and interferes with the transcriptional activity of glucocorticoid REFERENCE 10 (residues 1 to 375) AUTHORS Feng Y and Gregor P. TITLE Cloning of a novel member of the G protein-coupled receptor family related to peptide receptors JOURNAL Biochem Biophys Res Commun 231 (3), 651-654 (1997) PUBMED 9070864 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK030375.1, BC138616.1 and CX204119.1. On Jul 23, 2009 this sequence version replaced NP_084047.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK030375.1, AK018203.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..375 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 78.58 cM" Protein 1..375 /product="G-protein coupled estrogen receptor 1" /note="mER; membrane estrogen receptor; G-protein coupled receptor 30; chemoattractant receptor-like 2; constitutively expressed peptide-like receptor like" /calculated_mol_wt=42348 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q99527; propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Site 32 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Site 44 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 60..335 /region_name="7tmA_GPER1" /note="G protein-coupled estrogen receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors; cd14989" /db_xref="CDD:320120" Region 61..87 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320120" Site 63..84 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 94..119 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320120" Site 97..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Site order(115,118..119,130..135,137..138,141,186,188..192,211, 214..216,218..220,222..223,272,275..276,278..279,282, 302..303,305..307,310,313..314) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320120" Region 130..160 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320120" Site 133..153 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 173..194 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320120" Site 176..194 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 211..238 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320120" Site 221..236 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 252..282 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320120" Site 260..280 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" Region 303..328 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320120" Site 307..327 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BMP4.2)" CDS 1..375 /gene="Gper1" /gene_synonym="6330420K13Rik; Ceprl; CMKRL2; FEG-1; GPCR-Br; Gper; Gpr30" /coded_by="NM_029771.3:611..1738" /db_xref="CCDS:CCDS19811.1" /db_xref="GeneID:76854" /db_xref="MGI:MGI:1924104" ORIGIN 1 mdattpaqtv gveiylgpvw papsnstpla lnlslalred apgnltgdls ehqqyvialf 61 lsclytiflf pigfvgnili lvvnisfrek mtipdlyfin laaadlilva dslievfnld 121 eqyydiavlc tfmslflqin myssvffltw msfdrylala kamrcglfrt khharlscgl 181 iwmasvsatl vpftavhlrh teeacfcfad vrevqwlevt lgfimpfaii glcyslivra 241 lirahrhrgl rprrqkalrm ifavvlvffi cwlpenvfis vhllqwtqpg dtpckqsfrh 301 aypltghivn laafsnscln pliysflget frdklrlyve qktslpalnr fchatlkavi 361 pdsteqsevr fssav // LOCUS NP_067369 411 aa linear ROD 09-OCT-2023 DEFINITION Z-DNA-binding protein 1 isoform 1 [Mus musculus]. ACCESSION NP_067369 VERSION NP_067369.2 DBSOURCE REFSEQ: accession NM_021394.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 411) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 2 (residues 1 to 411) AUTHORS Lei Y, VanPortfliet JJ, Chen YF, Bryant JD, Li Y, Fails D, Torres-Odio S, Ragan KB, Deng J, Mohan A, Wang B, Brahms ON, Yates SD, Spencer M, Tong CW, Bosenberg MW, West LC, Shadel GS, Shutt TE, Upton JW, Li P and West AP. TITLE Cooperative sensing of mitochondrial DNA by ZBP1 and cGAS promotes cardiotoxicity JOURNAL Cell 186 (14), 3013-3032 (2023) PUBMED 37352855 REMARK GeneRIF: Cooperative sensing of mitochondrial DNA by ZBP1 and cGAS promotes cardiotoxicity. REFERENCE 3 (residues 1 to 411) AUTHORS Cheng P, Jian Q, Fu Z, Deng R and Ma Y. TITLE Inhibition of DAI refrains dendritic cells from maturation and prolongs murine islet and skin allograft survival JOURNAL Front Immunol 14, 1182851 (2023) PUBMED 37197662 REMARK GeneRIF: Inhibition of DAI refrains dendritic cells from maturation and prolongs murine islet and skin allograft survival. Publication Status: Online-Only REFERENCE 4 (residues 1 to 411) AUTHORS Enzan N, Matsushima S, Ikeda S, Okabe K, Ishikita A, Yamamoto T, Sada M, Miyake R, Tsutsui Y, Nishimura R, Toyohara T, Ikeda Y, Shojima Y, Miyamoto HD, Tadokoro T, Ikeda M, Abe K, Ide T, Kinugawa S and Tsutsui H. TITLE ZBP1 Protects Against mtDNA-Induced Myocardial Inflammation in Failing Hearts JOURNAL Circ Res 132 (9), 1110-1126 (2023) PUBMED 36974722 REMARK GeneRIF: ZBP1 Protects Against mtDNA-Induced Myocardial Inflammation in Failing Hearts. REFERENCE 5 (residues 1 to 411) AUTHORS Li S, Zhang Y, Guan Z, Ye M, Li H, You M, Zhou Z, Zhang C, Zhang F, Lu B, Zhou P and Peng K. TITLE SARS-CoV-2 Z-RNA activates the ZBP1-RIPK3 pathway to promote virus-induced inflammatory responses JOURNAL Cell Res 33 (3), 201-214 (2023) PUBMED 36650286 REMARK GeneRIF: SARS-CoV-2 Z-RNA activates the ZBP1-RIPK3 pathway to promote virus-induced inflammatory responses. REFERENCE 6 (residues 1 to 411) AUTHORS Wang Z, Choi MK, Ban T, Yanai H, Negishi H, Lu Y, Tamura T, Takaoka A, Nishikura K and Taniguchi T. TITLE Regulation of innate immune responses by DAI (DLM-1/ZBP1) and other DNA-sensing molecules JOURNAL Proc Natl Acad Sci U S A 105 (14), 5477-5482 (2008) PUBMED 18375758 REMARK GeneRIF: mechanism of DAI activation and the complex regulatory mechanisms underlying DNA-mediated protective and pathologic immune responses. REFERENCE 7 (residues 1 to 411) AUTHORS Ishii KJ, Kawagoe T, Koyama S, Matsui K, Kumar H, Kawai T, Uematsu S, Takeuchi O, Takeshita F, Coban C and Akira S. TITLE TANK-binding kinase-1 delineates innate and adaptive immune responses to DNA vaccines JOURNAL Nature 451 (7179), 725-729 (2008) PUBMED 18256672 REFERENCE 8 (residues 1 to 411) AUTHORS Takaoka A, Wang Z, Choi MK, Yanai H, Negishi H, Ban T, Lu Y, Miyagishi M, Kodama T, Honda K, Ohba Y and Taniguchi T. TITLE DAI (DLM-1/ZBP1) is a cytosolic DNA sensor and an activator of innate immune response JOURNAL Nature 448 (7152), 501-505 (2007) PUBMED 17618271 REMARK GeneRIF: observations underscore an integral role of DAI (DLM-1/ZBP1) in the DNA-mediated activation of innate immune responses REFERENCE 9 (residues 1 to 411) AUTHORS Schwartz T, Behlke J, Lowenhaupt K, Heinemann U and Rich A. TITLE Structure of the DLM-1-Z-DNA complex reveals a conserved family of Z-DNA-binding proteins JOURNAL Nat Struct Biol 8 (9), 761-765 (2001) PUBMED 11524677 REMARK GeneRIF: shares common structure-specific recognition core within the binding domain with an RNA editing enzyme but binds Z-DNA REFERENCE 10 (residues 1 to 411) AUTHORS Fu Y, Comella N, Tognazzi K, Brown LF, Dvorak HF and Kocher O. TITLE Cloning of DLM-1, a novel gene that is up-regulated in activated macrophages, using RNA differential display JOURNAL Gene 240 (1), 157-163 (1999) PUBMED 10564822 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY170802.1, AX775969.1, AL837509.11 and AI643886.1. On Nov 19, 2008 this sequence version replaced NP_067369.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data because C57BL/6 strain transcript sequence from the C57BL/6 strain consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF136520.1, BC020033.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..411 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 95.83 cM" Protein 1..411 /product="Z-DNA-binding protein 1 isoform 1" /note="tumor stroma and activated macrophage protein DLM-1; DNA-dependent activator of IFN-regulatory factors" /calculated_mol_wt=44140 Region 8..72 /region_name="Zalpha" /note="Z-DNA-binding domain in adenosine deaminases; smart00550" /db_xref="CDD:128823" Region 60..86 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" Region 84..147 /region_name="z-alpha" /note="Adenosine deaminase z-alpha domain; cl02659" /db_xref="CDD:295419" Region 188..205 /region_name="RIP homotypic interaction motif (RHIM) 1. /evidence=ECO:0000269|PubMed:19590578" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" Region 237..261 /region_name="RIP homotypic interaction motif (RHIM) 2. /evidence=ECO:0000269|PubMed:19590578" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" Region 263..303 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" Region 332..411 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" CDS 1..411 /gene="Zbp1" /gene_synonym="2010010H03Rik; Dai; Dlm1; mZaDLM" /coded_by="NM_021394.2:148..1383" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS17142.1" /db_xref="GeneID:58203" /db_xref="MGI:MGI:1927449" ORIGIN 1 maeapvdlst gdnleqkilq vlsddggpvk igqlvkkcqv pkktlnqvly rlkkedrvss 61 pepatwsigg aasgdgapai penssaqpsl derilrflea ngphralhia kalgmttake 121 vnpllysmrn khllsydgqt wkiyhsrqeg qdiahsgvtq espaiicqhn pvnmicqqga 181 nshisiansn aiqighgnvi vrekacgepg prtshplpla wdasaqdmpp vahgaqyiym 241 dksllqqvql ghhnemslvg dagkhpsysf sdsppevstt tadpgasfnm qtsepgphpe 301 gdtvqtvhik scfledatig ngnkmtihlr skgevmesgd seepkkedtg tsseatpprs 361 cqhtpsdsml ptselramal gdsspqttep vlrehevqdi essqdtglsk q // LOCUS NP_067430 864 aa linear ROD 09-OCT-2023 DEFINITION carbohydrate-responsive element-binding protein isoform 1 [Mus musculus]. ACCESSION NP_067430 VERSION NP_067430.2 DBSOURCE REFSEQ: accession NM_021455.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 864) AUTHORS Li L, Long J, Mise K, Poungavrin N, Lorenzi PL, Mahmud I, Tan L, Saha PK, Kanwar YS, Chang BH and Danesh FR. TITLE The transcription factor ChREBP links mitochondrial lipidomes to mitochondrial morphology and progression of diabetic kidney disease JOURNAL J Biol Chem 299 (9), 105185 (2023) PUBMED 37611830 REMARK GeneRIF: The transcription factor ChREBP links mitochondrial lipidomes to mitochondrial morphology and progression of diabetic kidney disease. REFERENCE 2 (residues 1 to 864) AUTHORS Sargsyan A, Doridot L, Hannou SA, Tong W, Srinivasan H, Ivison R, Monn R, Kou HH, Haldeman JM, Arlotto M, White PJ, Grimsrud PA, Astapova I, Tsai LT and Herman MA. TITLE HGFAC is a ChREBP-regulated hepatokine that enhances glucose and lipid homeostasis JOURNAL JCI Insight 8 (1), e153740 (2023) PUBMED 36413406 REMARK GeneRIF: HGFAC is a ChREBP-regulated hepatokine that enhances glucose and lipid homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 864) AUTHORS Seo E, Nam H and Jun HS. TITLE Reactive oxygen species induce HNF-4alpha expression via the ASK1-CREB pathway, promoting ChREBP expression and lipogenesis in hepatocytes JOURNAL Life Sci 310, 121042 (2022) PUBMED 36208661 REMARK GeneRIF: Reactive oxygen species induce HNF-4alpha expression via the ASK1-CREB pathway, promoting ChREBP expression and lipogenesis in hepatocytes. REFERENCE 4 (residues 1 to 864) AUTHORS Thevkar-Nagesh P, Habault J, Voisin M, Ruff SE, Ha S, Ruoff R, Chen X, Rawal S, Zahr T, Szabo G, Rogatsky I, Fisher EA and Garabedian MJ. TITLE Transcriptional regulation of Acsl1 by CHREBP and NF-kappa B in macrophages during hyperglycemia and inflammation JOURNAL PLoS One 17 (9), e0272986 (2022) PUBMED 36054206 REMARK GeneRIF: Transcriptional regulation of Acsl1 by CHREBP and NF-kappa B in macrophages during hyperglycemia and inflammation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 864) AUTHORS Katz LS, Brill G, Zhang P, Kumar A, Baumel-Alterzon S, Honig LB, Gomez-Banoy N, Karakose E, Tanase M, Doridot L, Alvarsson A, Davenport B, Wang P, Lambertini L, Stanley SA, Homann D, Stewart AF, Lo JC, Herman MA, Garcia-Ocana A and Scott DK. TITLE Maladaptive positive feedback production of ChREBPbeta underlies glucotoxic beta-cell failure JOURNAL Nat Commun 13 (1), 4423 (2022) PUBMED 35908073 REMARK Erratum:[Nat Commun. 2022 Sep 27;13(1):5681. PMID: 36167859] Publication Status: Online-Only REFERENCE 6 (residues 1 to 864) AUTHORS Kawaguchi T, Takenoshita M, Kabashima T and Uyeda K. TITLE Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein JOURNAL Proc Natl Acad Sci U S A 98 (24), 13710-13715 (2001) PUBMED 11698644 REFERENCE 7 (residues 1 to 864) AUTHORS Cairo S, Merla G, Urbinati F, Ballabio A and Reymond A. TITLE WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network JOURNAL Hum Mol Genet 10 (6), 617-627 (2001) PUBMED 11230181 REFERENCE 8 (residues 1 to 864) AUTHORS Valero MC, de Luis O, Cruces J and Perez Jurado LA. TITLE Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s) JOURNAL Genomics 69 (1), 1-13 (2000) PUBMED 11013070 REFERENCE 9 (residues 1 to 864) AUTHORS de Luis O, Valero MC and Jurado LA. TITLE WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog JOURNAL Eur J Hum Genet 8 (3), 215-222 (2000) PUBMED 10780788 REFERENCE 10 (residues 1 to 864) AUTHORS Billin AN, Eilers AL, Queva C and Ayer DE. TITLE Mlx, a novel Max-like BHLHZip protein that interacts with the Max network of transcription factors JOURNAL J Biol Chem 274 (51), 36344-36350 (1999) PUBMED 10593926 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC024607.3. On Aug 28, 2003 this sequence version replaced NP_067430.1. Transcript Variant: This variant (1, also known as zeta) encodes the longer isoform (1). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF245475.1, AF156604.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..864 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 75.0 cM" Protein 1..864 /product="carbohydrate-responsive element-binding protein isoform 1" /note="putative hepatic transcription factor; MLX interactor; Williams-Beuren syndrome chromosome region 14 homolog; Max-like protein; carbohydrate-responsive element-binding protein; MLX interacting protein-like beta" /calculated_mol_wt=94744 Region 15..41 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 20 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 23 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:18630941, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 25 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:18630941, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 27 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:18630941; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 53..77 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 81..196 /region_name="NES2-NLS_ChREBP" /note="nuclear export signal 2 (NES2) and nuclear import signal (NLS) domains found in carbohydrate-responsive element-binding protein (ChREBP), and similar proteins; cd21771" /db_xref="CDD:439287" Site order(117,121,124,127..131,134) /site_type="other" /note="putative heterodimer interface [polypeptide binding]" /db_xref="CDD:439287" Site order(124,127..128) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:439287" Site 196 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9NP71; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 332..397 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 409..>656 /region_name="PHA03307" /note="transcriptional regulator ICP4; Provisional" /db_xref="CDD:223039" Region 449..468 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 489..533 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 547..570 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 566 /site_type="phosphorylation" /note="Phosphoserine, by AMPK. /evidence=ECO:0000250|UniProtKB:Q8VIP2; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 583..602 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 614 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9NP71; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 626 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Site 643 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" Region 658..733 /region_name="bHLHzip_MLXIPL" /note="basic Helix-Loop-Helix-zipper (bHLHzip) domain found in MLX-interacting protein-like (MLXIPL) and similar proteins; cd19689" /db_xref="CDD:381532" Site order(663,665..667,669..671,673..674,678,700..701) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:381532" Site order(677,680..681,683..684,687..689,702,705..706,709, 711..713,715..716,718..719,722,725..726,729..730,732..733) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:381532" Region 715..736 /region_name="Leucine-zipper" /note="propagated from UniProtKB/Swiss-Prot (Q99MZ3.1)" CDS 1..864 /gene="Mlxipl" /gene_synonym="bHLHd14; ChREBP; Mlx; Wbscr14; WS-bHLH" /coded_by="NM_021455.5:33..2627" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS39316.1" /db_xref="GeneID:58805" /db_xref="MGI:MGI:1927999" ORIGIN 1 maraladlsv nlqvprvvps pdsdsdtdle dpsprrsagg lhrsqvihsg hfmvssphsd 61 sltrrrdqeg pvgladfgpr sidptlthlf eclslaysgk lvspkwknfk glkllcrdki 121 rlnnaiwraw yiqyvqrrks pvcgfvtplq gseadehrkp eavilegnyw krrievvmre 181 yhkwriyykk rlrkssregd flapkqvegg wppperwceq lfssvvpvll ggseeepggr 241 qlldldcfls disdtlftmt qpspsslqlp pedayvgnad miqpdltplq pslddfmeis 301 dfftnyrppq tptssnyies psfgpmadsl fssgilapem pspassssss gmtphsgntr 361 lqarnscsgp ldpnpflsse fllpedpktk ippapgptpl lpfptpvkvh glepctpspf 421 ptmapppsll peesllsarf pftsappapg vstlpapttf vptpqpgpgp vpfsvdhlph 481 gylepvfgph ftvpqgmqpr ckpsspspgg qkaspptlas atasptatat ardnnpcltq 541 llraakpeqa lepptmpgtl lrppespqdt vseipraraf fppipaptpp rpppgpatla 601 pprslvvpka erlsppassg serrlsgdln siqpsgalsv hlsppqtvls rgrvdnnkme 661 nrrithisae qkrrfniklg fdtlhglvst lsaqpslkvs kattlqktae yilmlqqera 721 amqeeaqqlr deieelnaai nlcqqqlpat gvpithqrfd qmrdmfddyv rtrtlhnwkf 781 wvfsilirpl fesfngmvst aslhslrqts lawleqycsl palrptvlns lrqlststsi 841 ltdpslvpeq atravtegtl grpl // LOCUS NP_001397154 531 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform d [Mus musculus]. ACCESSION NP_001397154 VERSION NP_001397154.1 DBSOURCE REFSEQ: accession NM_001410225.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 531) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 531) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 531) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 531) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 531) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 531) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 531) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 531) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 531) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 531) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422592.416489.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..531 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..531 /product="nuclear respiratory factor 1 isoform d" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=56962 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..531 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410225.1:274..1869" /note="isoform d is encoded by transcript variant 15" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglgspvlpe imasktrgyr 481 hscgrdlyrl fsffllyskn nerillapat sgspcfyvrn iitirvgils s // LOCUS NP_033786 519 aa linear ROD 09-OCT-2023 DEFINITION aldehyde dehydrogenase, mitochondrial isoform 1 precursor [Mus musculus]. ACCESSION NP_033786 VERSION NP_033786.1 DBSOURCE REFSEQ: accession NM_009656.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 519) AUTHORS Qu Y, Liu Y and Zhang H. TITLE ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy JOURNAL Clin Transl Oncol 25 (11), 3203-3216 (2023) PUBMED 37103763 REMARK GeneRIF: ALDH2 activation attenuates oxygen-glucose deprivation/reoxygenation-induced cell apoptosis, pyroptosis, ferroptosis and autophagy. REFERENCE 2 (residues 1 to 519) AUTHORS Chang YC, Lee HL, Yang W, Hsieh ML, Liu CC, Lee TY, Huang JY, Nong JY, Li FA, Chuang HL, Ding ZZ, Su WL, Chueh LY, Tsai YT, Chen CH, Mochly-Rosen D and Chuang LM. TITLE A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators JOURNAL Nat Commun 14 (1), 5971 (2023) PUBMED 37749090 REMARK GeneRIF: A common East-Asian ALDH2 mutation causes metabolic disorders and the therapeutic effect of ALDH2 activators. Publication Status: Online-Only REFERENCE 3 (residues 1 to 519) AUTHORS Wang L, Tian M, Li R, Wu Y, Wang S, Lu H, Liu Z and Yu Y. TITLE [Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury] JOURNAL Nan Fang Yi Ke Da Xue Xue Bao 43 (8), 1388-1395 (2023) PUBMED 37712276 REMARK GeneRIF: [Acetaldehyde dehydrogenase 2 ameliorates lung endothelial barrier and balances mitochondrial dynamics in mice with acute lung injury]. REFERENCE 4 (residues 1 to 519) AUTHORS Wang M, Brandt LTL, Wang X, Russell H, Mitchell E, Kamimae-Lanning AN, Brown JM, Dingler FA, Garaycoechea JI, Isobe T, Kinston SJ, Gu M, Vassiliou GS, Wilson NK, Gottgens B and Patel KJ. TITLE Genotoxic aldehyde stress prematurely ages hematopoietic stem cells in a p53-driven manner JOURNAL Mol Cell 83 (14), 2417-2433 (2023) PUBMED 37348497 REFERENCE 5 (residues 1 to 519) AUTHORS Lee AS, Sung YL, Pan SH, Sung KT, Su CH, Ding SL, Lu YJ, Hsieh CL, Chen YF, Liu CC, Chen WY, Chen XR, Chung FP, Wang SW, Chen CH, Mochly-Rosen D, Hung CL, Yeh HI and Lin SF. TITLE A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice JOURNAL Commun Biol 6 (1), 610 (2023) PUBMED 37280327 REMARK GeneRIF: A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 519) AUTHORS Fijneman RJ and Demant P. TITLE A gene for susceptibility to small intestinal cancer, ssic1, maps to the distal part of mouse chromosome 4 JOURNAL Cancer Res 55 (14), 3179-3182 (1995) PUBMED 7606739 REFERENCE 7 (residues 1 to 519) AUTHORS Chang C and Yoshida A. TITLE Cloning and characterization of the gene encoding mouse mitochondrial aldehyde dehydrogenase JOURNAL Gene 148 (2), 331-336 (1994) PUBMED 7958964 REFERENCE 8 (residues 1 to 519) AUTHORS Caubin J, Iglesias T, Bernal J, Munoz A, Marquez G, Barbero JL and Zaballos A. TITLE Isolation of genomic DNA fragments corresponding to genes modulated in vivo by a transcription factor JOURNAL Nucleic Acids Res 22 (20), 4132-4138 (1994) PUBMED 7937138 REFERENCE 9 (residues 1 to 519) AUTHORS Chen M, Achkar C and Gudas LJ. TITLE Enzymatic conversion of retinaldehyde to retinoic acid by cloned murine cytosolic and mitochondrial aldehyde dehydrogenases JOURNAL Mol Pharmacol 46 (1), 88-96 (1994) PUBMED 8058062 REFERENCE 10 (residues 1 to 519) AUTHORS McCaffery P, Tempst P, Lara G and Drager UC. TITLE Aldehyde dehydrogenase is a positional marker in the retina JOURNAL Development 112 (3), 693-702 (1991) PUBMED 1935685 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK165032.1, AK163452.1 and AW050084.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK163452.1, AK165032.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..519 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 61.86 cM" Protein 1..519 /product="aldehyde dehydrogenase, mitochondrial isoform 1 precursor" /EC_number="1.2.1.3" /note="aldehyde dehydrogenase, mitochondrial; ALDH class 2" /calculated_mol_wt=54375 transit_peptide 1..19 /note="Mitochondrion. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P47738.1)" /calculated_mol_wt=2181 Region 33..513 /region_name="ALDH_F1AB_F2_RALDH1" /note="NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like; cd07141" /db_xref="CDD:143459" Site 54 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 75 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 80 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site order(91..92,96,99,101,105,146,149..150,154,156..157, 160..164,166..167,170..177,270,273,276..277,280..281,283, 288,453,455,462,465,467..474,481..483,486..489,491,494, 499,506..511,513) /site_type="other" /note="homotetrameric interface [polypeptide binding]" /db_xref="CDD:143459" Site 161 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site order(184..187,211,214,244,248..249,262,265,268,288..289, 321,368,371,418) /site_type="other" /note="NAD binding site [chemical binding]" /db_xref="CDD:143459" Site order(188,287,318,321) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:143459" Site 188 /site_type="other" /note="Transition state stabilizer. /evidence=ECO:0000250|UniProtKB:P20000; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 370 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 377 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 385 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 409 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 428 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 430 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753, ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 443 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" Site 453 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23576753; propagated from UniProtKB/Swiss-Prot (P47738.1)" CDS 1..519 /gene="Aldh2" /gene_synonym="Ahd-5; AHD-M1; Ahd5; ALDH-E2; ALDHI" /coded_by="NM_009656.4:344..1903" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS19638.1" /db_xref="GeneID:11669" /db_xref="MGI:MGI:99600" ORIGIN 1 mlraalttvr rgprlsrlls aaatsavpap nhqpevfcnq ifinnewhda vsrktfptvn 61 pstgevicqv aegnkedvdk avkaaraafq lgspwrrmda sdrgrllyrl adlierdrty 121 laaletldng kpyvisylvd ldmvlkclry yagwadkyhg ktipidgdff sytrhepvgv 181 cgqiipwnfp llmqawklgp alatgnvvvm kvaeqtplta lyvanlikea gfppgvvniv 241 pgfgptagaa iashegvdkv aftgstevgh liqvaagssn lkrvtlelgg kspniimsda 301 dmdwaveqah falffnqgqc ccagsrtfvq envydefver svaraksrvv gnpfdsrteq 361 gpqvdetqfk kilgyiksgq qegakllcgg gaaadrgyfi qptvfgdvkd gmtiakeeif 421 gpvmqilkfk tieevvgran dskyglaaav ftkdldkany lsqalqagtv wincydvfga 481 qspfggykms gsgrelgeyg lqaytevktv tvkvpqkns // LOCUS NP_001405794 224 aa linear ROD 09-OCT-2023 DEFINITION DDRGK domain-containing protein 1 isoform b [Mus musculus]. ACCESSION NP_001405794 VERSION NP_001405794.1 DBSOURCE REFSEQ: accession NM_001418865.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 224) AUTHORS Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A and Zhao J. TITLE Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia JOURNAL Int J Biol Sci 19 (15), 4709-4725 (2023) PUBMED 37781516 REMARK GeneRIF: Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 224) AUTHORS Tandra V, Anderson T, Ayala JD, Weintraub NL, Singh N, Li H and Li J. TITLE Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis JOURNAL Cells 12 (15), 1923 (2023) PUBMED 37566002 REMARK GeneRIF: Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 224) AUTHORS Chen F, Sheng L, Zhou T, Yan L, Loveless R, Li H, Teng Y and Cai Y. TITLE Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling JOURNAL J Exp Clin Cancer Res 42 (1), 110 (2023) PUBMED 37131258 REMARK GeneRIF: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 224) AUTHORS Li H, Yu Z, Niu Z, Cheng Y, Wei Z, Cai Y, Ma F, Hu L, Zhu J and Zhang W. TITLE A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila JOURNAL Cell Mol Life Sci 80 (5), 129 (2023) PUBMED 37086384 REMARK GeneRIF: A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila. Publication Status: Online-Only REFERENCE 5 (residues 1 to 224) AUTHORS Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B and Bae Y. TITLE DDRGK1 is required for the proper development and maintenance of the growth plate cartilage JOURNAL Hum Mol Genet 31 (16), 2820-2830 (2022) PUBMED 35377455 REFERENCE 6 (residues 1 to 224) AUTHORS Yoo HM, Kang SH, Kim JY, Lee JE, Seong MW, Lee SW, Ka SH, Sou YS, Komatsu M, Tanaka K, Lee ST, Noh DY, Baek SH, Jeon YJ and Chung CH. TITLE Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development JOURNAL Mol Cell 56 (2), 261-274 (2014) PUBMED 25219498 REFERENCE 7 (residues 1 to 224) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 REFERENCE 8 (residues 1 to 224) AUTHORS Lemaire K, Moura RF, Granvik M, Igoillo-Esteve M, Hohmeier HE, Hendrickx N, Newgard CB, Waelkens E, Cnop M and Schuit F. TITLE Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis JOURNAL PLoS One 6 (4), e18517 (2011) PUBMED 21494687 REMARK GeneRIF: These data suggest that UFM1-UFBP1 participate in preventing endoplasmic reticulum stress-induced apoptosis in protein secretory cells. Publication Status: Online-Only REFERENCE 9 (residues 1 to 224) AUTHORS Wu J, Lei G, Mei M, Tang Y and Li H. TITLE A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling JOURNAL J Biol Chem 285 (20), 15126-15136 (2010) PUBMED 20228063 REFERENCE 10 (residues 1 to 224) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL772162.4 and AL731707.12. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.4225325.1, SRR17784643.794476.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..224 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.24 cM" Protein 1..224 /product="DDRGK domain-containing protein 1 isoform b" /note="DDRGK domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain; UFM1-binding and PCI domain-containing protein 1" /calculated_mol_wt=26041 Region 25..213 /region_name="DDRGK" /note="DDRGK domain; pfam09756" /db_xref="CDD:370664" CDS 1..224 /gene="Ddrgk1" /gene_synonym="1110001I20Rik; 2600009E05Rik; Ufbp1" /coded_by="NM_001418865.1:324..998" /note="isoform b is encoded by transcript variant 2" /db_xref="GeneID:77006" /db_xref="MGI:MGI:1924256" ORIGIN 1 mrmwvkllfq eeegiekpae vhptgkigak klrkleekqa rkaqreaeea ereerkrles 61 qreaewkkee erlrlkeeqk eeeerkaqee qarreheeyl klkeafvvee egvsetmtee 121 qshsfltefi nyikkskvvl ledlafqmgl rtqdainriq dlltegtltg viddrgkfiy 181 itpeelaava nfirqrgrvs itelaqasns liswgqdlpa qasa // LOCUS NP_035740 474 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor receptor superfamily member 1B precursor [Mus musculus]. ACCESSION NP_035740 VERSION NP_035740.2 DBSOURCE REFSEQ: accession NM_011610.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 474) AUTHORS Khan AUH, Ali AK, Marr B, Jo D, Ahmadvand S, Fong-McMaster C, Almutairi SM, Wang L, Sad S, Harper ME and Lee SH. TITLE The TNFalpha/TNFR2 axis mediates natural killer cell proliferation by promoting aerobic glycolysis JOURNAL Cell Mol Immunol 20 (10), 1140-1155 (2023) PUBMED 37553427 REMARK GeneRIF: The TNFalpha/TNFR2 axis mediates natural killer cell proliferation by promoting aerobic glycolysis. REFERENCE 2 (residues 1 to 474) AUTHORS Gao Y, Shi H, Zhao H, Yao M, He Y, Jiang M, Li J, Li Z, Su S, Liu T, Yin C, Liao X and Yue W. TITLE Single-cell transcriptomics identify TNFRSF1B as a novel T-cell exhaustion marker for ovarian cancer JOURNAL Clin Transl Med 13 (9), e1416 (2023) PUBMED 37712139 REMARK GeneRIF: Single-cell transcriptomics identify TNFRSF1B as a novel T-cell exhaustion marker for ovarian cancer. REFERENCE 3 (residues 1 to 474) AUTHORS Dutta P and Bishayi B. TITLE IL-10 in combination with IL-12 and TNF-alpha attenuates CXCL8/CXCR1 axis in peritoneal macrophages of mice infected with Staphylococcus aureus through the TNFR1-IL-1R-NF-kappaB pathway JOURNAL Int Immunopharmacol 120, 110297 (2023) PUBMED 37207443 REMARK GeneRIF: IL-10 in combination with IL-12 and TNF-alpha attenuates CXCL8/CXCR1 axis in peritoneal macrophages of mice infected with Staphylococcus aureus through the TNFR1-IL-1R-NF-kappaB pathway. REFERENCE 4 (residues 1 to 474) AUTHORS Lin S, Xu C, Yin X, Tian H and Mei X. TITLE Aging and TNF induce premature senescence of astrocytes after spinal cord injury via regulating YAP expression JOURNAL Int Immunopharmacol 120, 110276 (2023) PUBMED 37182448 REMARK GeneRIF: Aging and TNF induce premature senescence of astrocytes after spinal cord injury via regulating YAP expression. REFERENCE 5 (residues 1 to 474) AUTHORS Pegoretti V, Bauer J, Fischer R, Paro I, Douwenga W, Kontermann RE, Pfizenmaier K, Houben E, Broux B, Hellings N, Baron W, Laman JD and Eisel ULM. TITLE Sequential treatment with a TNFR2 agonist and a TNFR1 antagonist improves outcomes in a humanized mouse model for MS JOURNAL J Neuroinflammation 20 (1), 106 (2023) PUBMED 37138340 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 474) AUTHORS Brownell E, Ranges GE, Sarr T, Fiorentino L, Godfrey M, Pekar S, Hart J, Kamarck M, Rae PM, Ruddle FH et al. TITLE Chromosome assignments of the human TNF p55 and p75 receptor genes JOURNAL J Exp Zool 262 (3), 340-342 (1992) PUBMED 1322446 REFERENCE 7 (residues 1 to 474) AUTHORS Milatovich A, Song K, Heller RA and Francke U. TITLE Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosomes 12 and 1 JOURNAL Somat Cell Mol Genet 17 (5), 519-523 (1991) PUBMED 1662415 REFERENCE 8 (residues 1 to 474) AUTHORS Goodwin RG, Anderson D, Jerzy R, Davis T, Brannan CI, Copeland NG, Jenkins NA and Smith CA. TITLE Molecular cloning and expression of the type 1 and type 2 murine receptors for tumor necrosis factor JOURNAL Mol Cell Biol 11 (6), 3020-3026 (1991) PUBMED 1645445 REFERENCE 9 (residues 1 to 474) AUTHORS Lewis M, Tartaglia LA, Lee A, Bennett GL, Rice GC, Wong GH, Chen EY and Goeddel DV. TITLE Cloning and expression of cDNAs for two distinct murine tumor necrosis factor receptors demonstrate one receptor is species specific JOURNAL Proc Natl Acad Sci U S A 88 (7), 2830-2834 (1991) PUBMED 1849278 REFERENCE 10 (residues 1 to 474) AUTHORS Rothe JG, Brockhaus M, Gentz R and Lesslauer W. TITLE Molecular cloning and expression of the mouse Tnf receptor type b JOURNAL Immunogenetics 34 (5), 338-340 (1991) PUBMED 1657766 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK140332.1 and BY489212.1. On Jul 13, 2005 this sequence version replaced NP_035740.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK140332.1, AK004844.2 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..474 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 78.17 cM" Protein 1..474 /product="tumor necrosis factor receptor superfamily member 1B precursor" /note="TNF-RII; TNFR-II; p80 TNF-alpha receptor; tumor necrosis factor receptor 2; tumor necrosis factor receptor type II; p75 TNFR; TNF receptor beta chain" /calculated_mol_wt=48151 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2188 Site 30 /site_type="glycosylation" /note="O-linked (GalNAc...) threonine. /evidence=ECO:0000250|UniProtKB:P20333; propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 39..77 /region_name="TNFR-Cys 1" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 40..203 /region_name="TNFRSF1B" /note="Tumor necrosis factor receptor superfamily member 1B (TNFRSF1B), also known as TNFR2; cd10577" /db_xref="CDD:276903" Region 40..76 /region_name="CRD1" /note="CRD1 [structural motif]" /db_xref="CDD:276903" Site 69 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 78..119 /region_name="TNFR-Cys 2" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 79..119 /region_name="CRD2" /note="CRD2 [structural motif]" /db_xref="CDD:276903" Site order(81,83,85..87,89..91,93..97,99..100,117,129,131..132, 137..138) /site_type="other" /note="polypeptide ligand binding site [polypeptide binding]" /db_xref="CDD:276903" Site order(100..101,104,122,173..175,199,201) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:276903" Region 120..164 /region_name="TNFR-Cys 3" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 121..145 /region_name="CRD3" /note="CRD3 [structural motif]" /db_xref="CDD:276903" Region 163..203 /region_name="CRD4" /note="CRD4 [structural motif]" /db_xref="CDD:276903" Region 165..203 /region_name="TNFR-Cys 4" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Site 195 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P25119.1)" Region <208..277 /region_name="COG3889" /note="Predicted periplasmic protein [Function unknown]" /db_xref="CDD:226406" Site 208 /site_type="glycosylation" /note="O-linked (GalNAc...) threonine. /evidence=ECO:0000250|UniProtKB:P20333; propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 220..243 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Site 224 /site_type="glycosylation" /note="O-linked (GalNAc...) threonine. /evidence=ECO:0000250|UniProtKB:P20333; propagated from UniProtKB/Swiss-Prot (P25119.1)" Site 259..288 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 295..314 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 321..378 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" Site 331 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P20333; propagated from UniProtKB/Swiss-Prot (P25119.1)" Region 397..463 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P25119.1)" CDS 1..474 /gene="Tnfrsf1b" /gene_synonym="CD120b; p75; TNF-alphaR2; TNF-R-II; TNF-R2; TNF-R75; TNFalpha-R2; TNFBR; Tnfr-1; Tnfr2; TNFR80; TNFRII" /coded_by="NM_011610.3:70..1494" /db_xref="CCDS:CCDS18914.1" /db_xref="GeneID:21938" /db_xref="MGI:MGI:1314883" ORIGIN 1 mapaalwval vfelqlwatg htvpaqvvlt pykpepgyec qisqeyydrk aqmccakcpp 61 gqyvkhfcnk tsdtvcadce asmytqvwnq frtclscsss cttdqveira ctkqqnrvca 121 ceagrycalk thsgscrqcm rlskcgpgfg vassrapngn vlckacapgt fsdttsstdv 181 crphricsil aipgnastda vcapesptls aiprtlyvsq peptrsqpld qepgpsqtps 241 iltslgstpi ieqstkggis lpiglivgvt slgllmlglv nciilvqrkk kpsclqrdak 301 vphvpdeksq davgleqqhl lttapsssss slessasagd rrappgghpq arvmaeaqgf 361 qearassris dsshgshgth vnvtcivnvc sssdhssqcs sqasatvgdp dakpsaspkd 421 eqvpfsqeec psqspcette tlqshekplp lgvpdmgmkp sqagwfdqia vkva // LOCUS NP_001397202 168 aa linear ROD 09-OCT-2023 DEFINITION pleiotrophin precursor [Mus musculus]. ACCESSION NP_001397202 VERSION NP_001397202.1 DBSOURCE REFSEQ: accession NM_001410273.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 168) AUTHORS Li H, Xu L, Jiang W, Qiu X, Xu H, Zhu F, Hu Y, Liang S, Cai C, Qiu W, Lu Z, Cui Y and Tang C. TITLE Pleiotrophin ameliorates age-induced adult hippocampal neurogenesis decline and cognitive dysfunction JOURNAL Cell Rep 42 (9), 113022 (2023) PUBMED 37610873 REMARK GeneRIF: Pleiotrophin ameliorates age-induced adult hippocampal neurogenesis decline and cognitive dysfunction. REFERENCE 2 (residues 1 to 168) AUTHORS Zhou Y, Li H, Liu X, Chi X, Gu Z, Cui B, Bergquist J, Wang B, Tian G, Yang C, Xu F and Mi J. TITLE The Combination of Quantitative Proteomics and Systems Genetics Analysis Reveals that PTN Is Associated with Sleep-Loss-Induced Cognitive Impairment JOURNAL J Proteome Res 22 (9), 2936-2949 (2023) PUBMED 37611228 REMARK GeneRIF: The Combination of Quantitative Proteomics and Systems Genetics Analysis Reveals that PTN Is Associated with Sleep-Loss-Induced Cognitive Impairment. REFERENCE 3 (residues 1 to 168) AUTHORS Ganguly D, Schmidt MO, Coleman M, Ngo TC, Sorrelle N, Dominguez ATA, Murimwa GZ, Toombs JE, Lewis C, Fang YV, Valdes-Mora F, Gallego-Ortega D, Wellstein A and Brekken RA. TITLE Pleiotrophin drives a prometastatic immune niche in breast cancer JOURNAL J Exp Med 220 (5) (2023) PUBMED 36828390 REMARK GeneRIF: Pleiotrophin drives a prometastatic immune niche in breast cancer. REFERENCE 4 (residues 1 to 168) AUTHORS Wang X, Zhou D, Zhou W, Liu J, Xue Q, Huang Y, Cheng C, Wang Y, Chang J, Wang P and Miao C. TITLE Clematichinenoside AR inhibits the pathology of rheumatoid arthritis by blocking the circPTN/miR-145-5p/FZD4 signal axis JOURNAL Int Immunopharmacol 113 (Pt A), 109376 (2022) PUBMED 36279670 REMARK GeneRIF: Clematichinenoside AR inhibits the pathology of rheumatoid arthritis by blocking the circPTN/miR-145-5p/FZD4 signal axis. REFERENCE 5 (residues 1 to 168) AUTHORS Drake KA, Chaney C, Patel M, Das A, Bittencourt J, Cohn M and Carroll TJ. TITLE Transcription Factors YAP/TAZ and SRF Cooperate To Specify Renal Myofibroblasts in the Developing Mouse Kidney JOURNAL J Am Soc Nephrol 33 (9), 1694-1707 (2022) PUBMED 35918150 REMARK Erratum:[J Am Soc Nephrol. 2023 Mar 1;34(3):515-516. PMID: 36857501] REFERENCE 6 (residues 1 to 168) AUTHORS Li YS, Hoffman RM, Le Beau MM, Espinosa R 3rd, Jenkins NA, Gilbert DJ, Copeland NG and Deuel TF. TITLE Characterization of the human pleiotrophin gene. Promoter region and chromosomal localization JOURNAL J Biol Chem 267 (36), 26011-26016 (1992) PUBMED 1464612 REFERENCE 7 (residues 1 to 168) AUTHORS Katoh K, Takeshita S, Sato M, Ito T and Amann E. TITLE Genomic organization of the mouse OSF-1 gene JOURNAL DNA Cell Biol 11 (10), 735-743 (1992) PUBMED 1457042 REFERENCE 8 (residues 1 to 168) AUTHORS Nurcombe V, Fraser N, Herlaar E and Heath JK. TITLE MK: a pluripotential embryonic stem-cell-derived neuroregulatory factor JOURNAL Development 116 (4), 1175-1183 (1992) PUBMED 1295735 REFERENCE 9 (residues 1 to 168) AUTHORS Li YS, Gurrieri M and Deuel TF. TITLE Pleiotrophin gene expression is highly restricted and is regulated by platelet-derived growth factor JOURNAL Biochem Biophys Res Commun 184 (1), 427-432 (1992) PUBMED 1373617 REFERENCE 10 (residues 1 to 168) AUTHORS Naito A, Yoshikura H and Iwamoto A. TITLE Similarity of the genomic structure between the two members in a new family of heparin-binding factors JOURNAL Biochem Biophys Res Commun 183 (2), 701-707 (1992) PUBMED 1550576 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC154019.3 and AC153902.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189670.127049.1, SRR7345562.4414398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..168 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 15.48 cM" Protein 1..168 /product="pleiotrophin precursor" /note="osteoblast-specific factor 1; heparin-binding neutrophic factor; heparin-binding brain mitogen; heparin-binding growth factor 8; heparin-binding growth-associated molecule" /calculated_mol_wt=15299 sig_peptide 1..32 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3588 mat_peptide 33..168 /product="Pleiotrophin. /id=PRO_0000024660" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" /calculated_mol_wt=15299 Region 47..131 /region_name="PTN_MK_N" /note="PTN/MK heparin-binding protein family, N-terminal domain; cl02505" /db_xref="CDD:445801" Region 92..99 /region_name="Chondroitin sulfate binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 123..131 /region_name="Chondroitin sulfate binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 139..168 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" Region 147..168 /region_name="Chondroitin sulfate A binding. /evidence=ECO:0000250|UniProtKB:P21246" /note="propagated from UniProtKB/Swiss-Prot (P63089.1)" CDS 1..168 /gene="Ptn" /gene_synonym="HARP; HB-GAM; HBBM; HBBN; HBGF-8; HBNF; OSF; Osf-1; Osf1" /coded_by="NM_001410273.1:92..598" /db_xref="GeneID:19242" /db_xref="MGI:MGI:97804" ORIGIN 1 mssqqyqqqr rkfaaaflal ifilaavdta eagkkekpek kvkksdcgew qwsvcvptsg 61 dcglgtregt rtgaeckqtm ktqrckipcn wkkqfgaeck yqfqawgecd lntalktrtg 121 slkralhnad cqktvtiskp cgkltkpkpq aeskkkkkeg kkqekmld // LOCUS NP_001039023 416 aa linear ROD 09-OCT-2023 DEFINITION PRKCA-binding protein [Mus musculus]. ACCESSION NP_001039023 VERSION NP_001039023.1 DBSOURCE REFSEQ: accession NM_001045558.1 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 416) AUTHORS Birmingham EA, Wickens MM, Kirkland JM, Knouse MC, McGrath AG and Briand LA. TITLE Circulating ovarian hormones interact with protein interacting with C kinase (PICK1) within the medial prefrontal cortex to influence cocaine seeking in female mice JOURNAL Horm Behav 155, 105408 (2023) PUBMED 37541099 REMARK GeneRIF: Circulating ovarian hormones interact with protein interacting with C kinase (PICK1) within the medial prefrontal cortex to influence cocaine seeking in female mice. REFERENCE 2 (residues 1 to 416) AUTHORS Ramsakha N, Ojha P, Pal S, Routh S, Citri A and Bhattacharyya S. TITLE A vital role for PICK1 in the differential regulation of metabotropic glutamate receptor internalization and synaptic AMPA receptor endocytosis JOURNAL J Biol Chem 299 (6), 104837 (2023) PUBMED 37209824 REMARK GeneRIF: A vital role for PICK1 in the differential regulation of metabotropic glutamate receptor internalization and synaptic AMPA receptor endocytosis. REFERENCE 3 (residues 1 to 416) AUTHORS Du YQ, Shu CY, Zheng M, Xu WD, Sun Y, Shen L, Zhang C, Zhang YX, Wang QN, Li KQ, Chen BY, Hao K, Lyu JX and Wang Z. TITLE Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice JOURNAL Curr Med Sci 43 (2), 313-323 (2023) PUBMED 36971977 REMARK GeneRIF: Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice. REFERENCE 4 (residues 1 to 416) AUTHORS Zhu Z, Wang W, Gu C, Wang M and Yan Y. TITLE The M1 muscarinic acetylcholine receptor regulates the surface expression of the AMPA receptor subunit GluA2 via PICK1 JOURNAL Psychopharmacology (Berl) 240 (1), 239-248 (2023) PUBMED 36564670 REMARK GeneRIF: The M1 muscarinic acetylcholine receptor regulates the surface expression of the AMPA receptor subunit GluA2 via PICK1. REFERENCE 5 (residues 1 to 416) AUTHORS Longatti A, Ponzoni L, Moretto E, Giansante G, Lattuada N, Colombo MN, Francolini M, Sala M, Murru L and Passafaro M. TITLE Arhgap22 Disruption Leads to RAC1 Hyperactivity Affecting Hippocampal Glutamatergic Synapses and Cognition in Mice JOURNAL Mol Neurobiol 58 (12), 6092-6110 (2021) PUBMED 34455539 REFERENCE 6 (residues 1 to 416) AUTHORS Takeya R, Takeshige K and Sumimoto H. TITLE Interaction of the PDZ domain of human PICK1 with class I ADP-ribosylation factors JOURNAL Biochem Biophys Res Commun 267 (1), 149-155 (2000) PUBMED 10623590 REFERENCE 7 (residues 1 to 416) AUTHORS Dev KK, Nishimune A, Henley JM and Nakanishi S. TITLE The protein kinase C alpha binding protein PICK1 interacts with short but not long form alternative splice variants of AMPA receptor subunits JOURNAL Neuropharmacology 38 (5), 635-644 (1999) PUBMED 10340301 REFERENCE 8 (residues 1 to 416) AUTHORS Torres R, Firestein BL, Dong H, Staudinger J, Olson EN, Huganir RL, Bredt DS, Gale NW and Yancopoulos GD. TITLE PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands JOURNAL Neuron 21 (6), 1453-1463 (1998) PUBMED 9883737 REFERENCE 9 (residues 1 to 416) AUTHORS Staudinger J, Lu J and Olson EN. TITLE Specific interaction of the PDZ domain protein PICK1 with the COOH terminus of protein kinase C-alpha JOURNAL J Biol Chem 272 (51), 32019-32024 (1997) PUBMED 9405395 REFERENCE 10 (residues 1 to 416) AUTHORS Staudinger J, Zhou J, Burgess R, Elledge SJ and Olson EN. TITLE PICK1: a perinuclear binding protein and substrate for protein kinase C isolated by the yeast two-hybrid system JOURNAL J Cell Biol 128 (3), 263-271 (1995) PUBMED 7844141 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BU698586.1, AK090155.1, AI893973.1 and AI385692.1. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC048788.1, SRR1660815.40779.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..416 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 37.7 cM" Protein 1..416 /product="PRKCA-binding protein" /note="protein kinase C-alpha-binding protein; protein that interacts with C kinase 1" /calculated_mol_wt=46396 Region 19..99 /region_name="PDZ" /note="Domain present in PSD-95, Dlg, and ZO-1/2; smart00228" /db_xref="CDD:214570" Site order(32..35,37,86..87,90..91) /site_type="other" /note="protein binding site [polypeptide binding]" /db_xref="CDD:238492" Site 82 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9NRD5; propagated from UniProtKB/Swiss-Prot (Q62083.2)" Region 146..360 /region_name="BAR_PICK1" /note="The Bin/Amphiphysin/Rvs (BAR) domain of Protein Interacting with C Kinase 1; cd07659" /db_xref="CDD:153343" Site order(162..163,169,173,176,179..180,183,186..187,191, 193..194,197,200..201,206..207,209..210,213,217,326, 330..331,334..335,337..338,345..346,348..349) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:153343" Site order(168,171,174..175,178..179,181..183,185..186,222,225, 229,232..233) /site_type="active" /note="putative Rac binding site [active]" /db_xref="CDD:153343" Region 373..416 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q62083.2)" CDS 1..416 /gene="Pick1" /gene_synonym="Prkcabp" /coded_by="NM_001045558.1:253..1503" /db_xref="CCDS:CCDS27635.1" /db_xref="GeneID:18693" /db_xref="MGI:MGI:894645" ORIGIN 1 mfadldydie edklgiptvp gkvtlqkdaq nligisiggg aqycpclyiv qvfdntpaal 61 dgtvaagdei tgvngksikg ktkvevakmi qevkgevtih ynklqadpkq gmsldivlkk 121 vkhrlvenms sgtadalgls railcndglv krleelerta elykgmteht knllrafyel 181 sqthrafgdv fsvigvrepq paaseafvkf adahrsiekf girllktikp mltdlntyln 241 kaipdtrlti kkyldvkfey lsyclkvkem ddeeyscial geplyrvstg nyeyrlilrc 301 rqeararfsq mrkdvlekme lldqkhvqdi vfqlqrfvst mskyyndcya vlqdadvfpi 361 evdlahttla ygpnqgsftd geeedeeeed gaarevskda cgatgptdkg gswcds // LOCUS NP_201584 1292 aa linear ROD 09-OCT-2023 DEFINITION zinc finger protein 423 isoform 1 [Mus musculus]. ACCESSION NP_201584 XP_917173 XP_927334 XP_927339 XP_927344 VERSION NP_201584.2 DBSOURCE REFSEQ: accession NM_033327.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1292) AUTHORS Roth L, Johann K, Hones GS, Oelkrug R, Wagner L, Hoffmann A, Krohn K, Moeller LC, Weiner J, Heiker JT, Kloting N, Tonjes A, Stumvoll M, Bluher M, Mittag J and Krause K. TITLE Thyroid hormones regulate Zfp423 expression in regionally distinct adipose depots through direct and cell-autonomous action JOURNAL Cell Rep 42 (2), 112088 (2023) PUBMED 36753417 REMARK GeneRIF: Thyroid hormones regulate Zfp423 expression in regionally distinct adipose depots through direct and cell-autonomous action. REFERENCE 2 (residues 1 to 1292) AUTHORS Shao M, Zhang Q, Truong A, Shan B, Vishvanath L, Li L, Seale P and Gupta RK. TITLE ZFP423 controls EBF2 coactivator recruitment and PPARgamma occupancy to determine the thermogenic plasticity of adipocytes JOURNAL Genes Dev 35 (21-22), 1461-1474 (2021) PUBMED 34620682 REMARK GeneRIF: ZFP423 controls EBF2 coactivator recruitment and PPARgamma occupancy to determine the thermogenic plasticity of adipocytes. REFERENCE 3 (residues 1 to 1292) AUTHORS Han S, Okawa S, Wilkinson GA, Ghazale H, Adnani L, Dixit R, Tavares L, Faisal I, Brooks MJ, Cortay V, Zinyk D, Sivitilli A, Li S, Malik F, Ilnytskyy Y, Angarica VE, Gao J, Chinchalongporn V, Oproescu AM, Vasan L, Touahri Y, David LA, Raharjo E, Kim JW, Wu W, Rahmani W, Chan JA, Kovalchuk I, Attisano L, Kurrasch D, Dehay C, Swaroop A, Castro DS, Biernaskie J, Del Sol A and Schuurmans C. TITLE Proneural genes define ground-state rules to regulate neurogenic patterning and cortical folding JOURNAL Neuron 109 (18), 2847-2863 (2021) PUBMED 34407390 REFERENCE 4 (residues 1 to 1292) AUTHORS Casoni F, Croci L, Vincenti F, Podini P, Riba M, Massimino L, Cremona O and Consalez GG. TITLE ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus JOURNAL Development 147 (22) (2020) PUBMED 33046507 REMARK GeneRIF: ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1292) AUTHORS Alcaraz WA, Liu Z, Valdes P, Chen E, Valdovino Gonzalez AG, Wade S, Wong C, Kim E, Chen HM, Ponn A, Concepcion D and Hamilton BA. TITLE Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice JOURNAL G3 (Bethesda) 10 (11), 4241-4247 (2020) PUBMED 32967895 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1292) AUTHORS Warming S, Liu P, Suzuki T, Akagi K, Lindtner S, Pavlakis GN, Jenkins NA and Copeland NG. TITLE Evi3, a common retroviral integration site in murine B-cell lymphoma, encodes an EBFAZ-related Kruppel-like zinc finger protein JOURNAL Blood 101 (5), 1934-1940 (2003) PUBMED 12393497 REFERENCE 7 (residues 1 to 1292) AUTHORS Okazaki N, Kikuno R, Ohara R, Inamoto S, Aizawa H, Yuasa S, Nakajima D, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 10 (1), 35-48 (2003) PUBMED 12693553 REFERENCE 8 (residues 1 to 1292) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 9 (residues 1 to 1292) AUTHORS Araki K, Imaizumi T, Sekimoto T, Yoshinobu K, Yoshimuta J, Akizuki M, Miura K, Araki M and Yamamura K. TITLE Exchangeable gene trap using the Cre/mutated lox system JOURNAL Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999) PUBMED 10512203 REFERENCE 10 (residues 1 to 1292) AUTHORS Tsai RY and Reed RR. TITLE Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development JOURNAL J Neurosci 17 (11), 4159-4169 (1997) PUBMED 9151733 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BQ180174.1, AK122365.1, BU519630.1, BB788751.1 and BF021428.1. On or before Dec 7, 2005 this sequence version replaced XP_927334.1, XP_927339.1, XP_927344.1, XP_917173.1, NP_201584.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC079586.1, AY256893.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1292 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="8" /map="8 42.29 cM" Protein 1..1292 /product="zinc finger protein 423 isoform 1" /note="early B-cell factor associated zinc finger protein; olf1/EBF-associated zinc finger protein; smad- and Olf-interacting zinc finger protein; zinc finger protein 104; early B-cell factor associated zinc finger transcription factor" /calculated_mol_wt=145221 Region 1..21 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 33..70 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Site 55 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q2M1K9; propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Site 58 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q2M1K9; propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 95..125 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 148..168 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(153,155,157,159..160,163..164,167,181,183,187..188, 191..192,195,209,211,213,215..216,219..220,223) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 176..196 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 202..603 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 204..224 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 232..252 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 273..292 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 354..407 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 419..440 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(424,427,429,431..432,435..436,439,456,458,462..463, 466..467,474,495,497,499,501..502,505..506,509) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 451..475 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 490..509 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 598..635 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q2M1K9; propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 672..692 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 702..723 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 730..751 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(735,737,739,741..742,745..746,749,765,767,771..772, 775..776,780,796,798,800,802..803,806..807,810) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 760..781 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 791..811 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 817..835 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 896..917 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 940..960 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 969..989 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 1062 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q2M1K9; propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 1144..1171 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q80TS5.2)" Region 1208..1228 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1213,1215,1217,1219..1220,1223..1224,1227,1244,1246, 1250..1251,1254..1255,1259,1274,1276,1278,1280..1281, 1284..1285) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 1239..1260 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 1269..1285 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..1292 /gene="Zfp423" /gene_synonym="ataxia1; Ebfaz; mKIAA0760; nur12; Roaz; Zfp104; Znf423" /coded_by="NM_033327.2:361..4239" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS52627.1" /db_xref="GeneID:94187" /db_xref="MGI:MGI:1891217" ORIGIN 1 msrrkqakpr svkveegeas dfslawdssv aaagglegep ecdrktsral edrnsvtsqe 61 erneddedve desiytcdhc qqdfesladl tdhrahrcpg dgdddpqlsw vasspsskdv 121 asptqmigdg cdlglgeeeg gtglpypcqf cdksfirlsy lkrheqihsd klpfkctfcs 181 rlfkhkrsrd rhiklhtgdk kyhcheceaa fsrsdhlkih lkthssskpf kcsvckrgfs 241 stsslqshmq ahkknkehla ksekeakkdd fmcdycedtf sqteelekhv ltlhpqlsek 301 adlqcihcpe vfvdestlla hihqahanqk hkcpmcpeqf ssvegvychl dshrqpdssn 361 hsvspdpvlg svasmssatp dssasvergs tpdstlkplr gqkkmrddgq swpkvvyscp 421 ycskrdftsl avleihlkti hadkpqqsht cqicldsmpt lynlnehvrk lhkshaypvm 481 qfgnisafhc nycpemfadi nslqehirvs hcgpnanppd gnnaffcnqc smgfltessl 541 tehiqqahcs vgstklespv vqptqsfmev yscpyctnsp ifgsilkltk hikenhknip 601 lahskkskae qspvssdvev sspkrqrlsg sansisngey pcnqcdlkfs nfesfqthlk 661 lhlelllrkq acpqckedfd sqesllqhlt vhymttsthy vcescdkqfs svddlqkhll 721 dmhtfvlyhc tlcqevfdsk vsiqvhlavk hsnekkmyrc tacnwdfrke adlqvhvkhs 781 hlgnpakahk cifcgetfst evelqchitt hskkyncrfc skafhavill ekhlrekhcv 841 fdaaaengta ngvpptstkk aepadlqgml lknpeapnsh easeddvdas epmygcdicg 901 aaytmevllq nhrlrdhnir pgeddgsrkk aefikgshkc nvcsrtffse nglrehlqth 961 rgpakhymcp icgerfpsll tltehkvths ksldtgtcri ckmplqseee fiehcqmhpd 1021 lrnsltgfrc vvcmqtvtst lelkihgtfh mqklagssaa sspngqglqk lykcalclke 1081 frskqdlvrl dvnglpyglc agcmarsang qvgglappep adrpcaglrc pecnvkfesa 1141 edleshmqvd hrdltpetsg prkgaqtspv prkktyqcik cqmtfenere iqihvanhmi 1201 eeginheckl cnqmfdspak llchliehsf egmggtfkcp vcftvfvqan klqqhifavh 1261 gqedkiydcs qcpqkfffqt elqnhtmsqh aq // LOCUS NP_033735 247 aa linear ROD 09-OCT-2023 DEFINITION adiponectin precursor [Mus musculus]. ACCESSION NP_033735 VERSION NP_033735.3 DBSOURCE REFSEQ: accession NM_009605.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 247) AUTHORS Fukuoka K, Mineo R, Kita S, Fukuda S, Okita T, Kawada-Horitani E, Iioka M, Fujii K, Kawada K, Fujishima Y, Nishizawa H, Maeda N and Shimomura I. TITLE ER stress decreases exosome production through adiponectin/T-cadherin-dependent and -independent pathways JOURNAL J Biol Chem 299 (9), 105114 (2023) PUBMED 37524131 REMARK GeneRIF: ER stress decreases exosome production through adiponectin/T-cadherin-dependent and -independent pathways. REFERENCE 2 (residues 1 to 247) AUTHORS Blandin A, Amosse J, Froger J, Hilairet G, Durcin M, Fizanne L, Ghesquiere V, Prieur X, Chaigneau J, Vergori L, Dray C, Pradere JP, Blandin S, Dupont J, Ducluzeau PH, Dubois S, Boursier J, Cariou B and Le Lay S. TITLE Extracellular vesicles are carriers of adiponectin with insulin-sensitizing and anti-inflammatory properties JOURNAL Cell Rep 42 (8), 112866 (2023) PUBMED 37605533 REFERENCE 3 (residues 1 to 247) AUTHORS Takezaki D, Morizane S, Ikeda K, Iseki M, Sakamoto Y, Kawakami Y, Hashiguchi T, Shirakata Y, Nishina S and Mukai T. TITLE Co-occurrence of non-alcoholic steatohepatitis exacerbates psoriasis associated with decreased adiponectin expression in a murine model JOURNAL Front Immunol 14, 1214623 (2023) PUBMED 37646025 REMARK GeneRIF: Co-occurrence of non-alcoholic steatohepatitis exacerbates psoriasis associated with decreased adiponectin expression in a murine model. Publication Status: Online-Only REFERENCE 4 (residues 1 to 247) AUTHORS Soh S, Han S, Ka HI, Mun SH, Kim W, Oh G and Yang Y. TITLE Adiponectin affects the migration ability of bone marrow-derived mesenchymal stem cells via the regulation of hypoxia inducible factor 1alpha JOURNAL Cell Commun Signal 21 (1), 158 (2023) PUBMED 37370133 REMARK GeneRIF: Adiponectin affects the migration ability of bone marrow-derived mesenchymal stem cells via the regulation of hypoxia inducible factor 1alpha. Erratum:[Cell Commun Signal. 2023 Aug 3;21(1):194. PMID: 37537609] Publication Status: Online-Only REFERENCE 5 (residues 1 to 247) AUTHORS Choubey M and Bora P. TITLE Emerging Role of Adiponectin/AdipoRs Signaling in Choroidal Neovascularization, Age-Related Macular Degeneration, and Diabetic Retinopathy JOURNAL Biomolecules 13 (6), 982 (2023) PUBMED 37371562 REMARK GeneRIF: Emerging Role of Adiponectin/AdipoRs Signaling in Choroidal Neovascularization, Age-Related Macular Degeneration, and Diabetic Retinopathy. Review article Publication Status: Online-Only REFERENCE 6 (residues 1 to 247) AUTHORS Das K, Lin Y, Widen E, Zhang Y and Scherer PE. TITLE Chromosomal localization, expression pattern, and promoter analysis of the mouse gene encoding adipocyte-specific secretory protein Acrp30 JOURNAL Biochem Biophys Res Commun 280 (4), 1120-1129 (2001) PUBMED 11162643 REFERENCE 7 (residues 1 to 247) AUTHORS Bogan JS and Lodish HF. TITLE Two compartments for insulin-stimulated exocytosis in 3T3-L1 adipocytes defined by endogenous ACRP30 and GLUT4 JOURNAL J Cell Biol 146 (3), 609-620 (1999) PUBMED 10444069 REFERENCE 8 (residues 1 to 247) AUTHORS Shapiro L and Scherer PE. TITLE The crystal structure of a complement-1q family protein suggests an evolutionary link to tumor necrosis factor JOURNAL Curr Biol 8 (6), 335-338 (1998) PUBMED 9512423 REFERENCE 9 (residues 1 to 247) AUTHORS Hu E, Liang P and Spiegelman BM. TITLE AdipoQ is a novel adipose-specific gene dysregulated in obesity JOURNAL J Biol Chem 271 (18), 10697-10703 (1996) PUBMED 8631877 REFERENCE 10 (residues 1 to 247) AUTHORS Scherer PE, Williams S, Fogliano M, Baldini G and Lodish HF. TITLE A novel serum protein similar to C1q, produced exclusively in adipocytes JOURNAL J Biol Chem 270 (45), 26746-26749 (1995) PUBMED 7592907 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK134112.1. On Feb 15, 2006 this sequence version replaced NP_033735.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK134112.1, AK041214.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..247 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="16" /map="16 13.96 cM" Protein 1..247 /product="adiponectin precursor" /note="adipocyte, C1Q and collagen domain containing; adipocyte complement related protein; adipocyte-specific protein AdipoQ; 30 kDa adipocyte complement-related protein; adipocyte complement-related 30 kDa protein; adipocyte, C1q and collagen domain-containing protein; adiponectin d" /calculated_mol_wt=24921 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1906 Site 23 /site_type="glycosylation" /note="O-linked (GalNAc...) threonine. /evidence=ECO:0000305|PubMed:19855092; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 24 /site_type="glycosylation" /note="O-linked (GalNAc...) threonine. /evidence=ECO:0000305|PubMed:19855092; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 36 /site_type="hydroxylation" /note="5-hydroxylysine. /evidence=ECO:0000250|UniProtKB:Q3Y5Z3; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Region 44..105 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 47 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 50 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Region 54..110 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:396114" Site 56 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 68 /site_type="hydroxylation" /note="5-hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 68 /site_type="glycosylation" /note="O-linked (Gal...) hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 71 /site_type="hydroxylation" /note="5-hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 71 /site_type="glycosylation" /note="O-linked (Gal...) hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 79 /site_type="other" /note="Not hydroxylated. /evidence=ECO:0000269|PubMed:11912203; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 80 /site_type="hydroxylation" /note="5-hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 80 /site_type="glycosylation" /note="O-linked (Gal...) hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 94 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000269|PubMed:11912203; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 98 /site_type="other" /note="Not hydroxylated. /evidence=ECO:0000269|PubMed:11912203; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 104 /site_type="hydroxylation" /note="5-hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 104 /site_type="glycosylation" /note="O-linked (Gal...) hydroxylysine, alternate. /evidence=ECO:0000269|PubMed:11912203, ECO:0000269|PubMed:23209641; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Site 107 /site_type="other" /note="Not hydroxylated. /evidence=ECO:0000269|PubMed:11912203; propagated from UniProtKB/Swiss-Prot (Q60994.2)" Region 112..245 /region_name="C1Q" /note="Complement component C1q domain; smart00110" /db_xref="CDD:128420" Site 233 /site_type="other" /note="Not glycosylated. /evidence=ECO:0000269|PubMed:11912203; propagated from UniProtKB/Swiss-Prot (Q60994.2)" CDS 1..247 /gene="Adipoq" /gene_synonym="30kDa; Acdc; Acrp30; Ad; Adid; adipo; apM1; APN; GBP28" /coded_by="NM_009605.5:115..858" /db_xref="CCDS:CCDS28075.1" /db_xref="GeneID:11450" /db_xref="MGI:MGI:106675" ORIGIN 1 mlllqallfl lilpshaedd vttteelapa lvpppkgtca gwmagipghp ghngtpgrdg 61 rdgtpgekge kgdagllgpk getgdvgmtg aegprgfpgt pgrkgepgea ayvyrsafsv 121 gletrvtvpn vpirftkify nqqnhydgst gkfycnipgl yyfsyhitvy mkdvkvslfk 181 kdkavlftyd qyqeknvdqa sgsvllhlev gdqvwlqvyg dgdhnglyad nvndstftgf 241 llyhdtn // LOCUS NP_033905 169 aa linear ROD 09-OCT-2023 DEFINITION translocator protein [Mus musculus]. ACCESSION NP_033905 VERSION NP_033905.3 DBSOURCE REFSEQ: accession NM_009775.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 169) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 2 (residues 1 to 169) AUTHORS Gallus M, Roll W, Dik A, Barca C, Zinnhardt B, Hicking G, Mueller C, Naik VN, Anstotz M, Kramer J, Rolfes L, Wachsmuth L, Pitsch J, van Loo KMJ, Rauber S, Okada H, Wimberley C, Strippel C, Golombeck KS, Johnen A, Kovac S, Gross CC, Backhaus P, Seifert R, Lewerenz J, Surges R, Elger CE, Wiendl H, Ruck T, Becker AJ, Faber C, Jacobs AH, Bauer J, Meuth SG, Schafers M and Melzer N. TITLE Translational imaging of TSPO reveals pronounced innate inflammation in human and murine CD8 T cell-mediated limbic encephalitis JOURNAL Sci Adv 9 (23), eabq7595 (2023) PUBMED 37294768 REMARK GeneRIF: Translational imaging of TSPO reveals pronounced innate inflammation in human and murine CD8 T cell-mediated limbic encephalitis. REFERENCE 3 (residues 1 to 169) AUTHORS Zhang D, Man D, Lu J, Jiang Y, Ding B, Su R, Tong R, Chen J, Yang B, Zheng S, Chen D and Wu J. TITLE Mitochondrial TSPO Promotes Hepatocellular Carcinoma Progression through Ferroptosis Inhibition and Immune Evasion JOURNAL Adv Sci (Weinh) 10 (15), e2206669 (2023) PUBMED 36994647 REMARK GeneRIF: Mitochondrial TSPO Promotes Hepatocellular Carcinoma Progression through Ferroptosis Inhibition and Immune Evasion. REFERENCE 4 (residues 1 to 169) AUTHORS Magri A, Lipari CLR, Risiglione P, Zimbone S, Guarino F, Caccamo A and Messina A. TITLE ERK1/2-dependent TSPO overactivation associates with the loss of mitophagy and mitochondrial respiration in ALS JOURNAL Cell Death Dis 14 (2), 122 (2023) PUBMED 36792609 REMARK GeneRIF: ERK1/2-dependent TSPO overactivation associates with the loss of mitophagy and mitochondrial respiration in ALS. Publication Status: Online-Only REFERENCE 5 (residues 1 to 169) AUTHORS Liere P, Liu GJ, Pianos A, Middleton RJ, Banati RB and Akwa Y. TITLE The Comprehensive Steroidome in Complete TSPO/PBR Knockout Mice under Basal Conditions JOURNAL Int J Mol Sci 24 (3), 2474 (2023) PUBMED 36768796 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 169) AUTHORS Letts VA, Valenzuela A, Kirley JP, Sweet HO, Davisson MT and Frankel WN. TITLE Genetic and physical maps of the stargazer locus on mouse chromosome 15 JOURNAL Genomics 43 (1), 62-68 (1997) PUBMED 9226373 REFERENCE 7 (residues 1 to 169) AUTHORS Yakovlev AG, Ruffo M, Jurka J and Krueger KE. TITLE Comparison of repetitive elements in the third intron of human and rodent mitochondrial benzodiazepine receptor-encoding genes JOURNAL Gene 155 (2), 201-205 (1995) PUBMED 7721091 REFERENCE 8 (residues 1 to 169) AUTHORS Taketani S, Kohno H, Okuda M, Furukawa T and Tokunaga R. TITLE Induction of peripheral-type benzodiazepine receptors during differentiation of mouse erythroleukemia cells. A possible involvement of these receptors in heme biosynthesis JOURNAL J Biol Chem 269 (10), 7527-7531 (1994) PUBMED 8125973 REFERENCE 9 (residues 1 to 169) AUTHORS Garnier M, Dimchev AB, Boujrad N, Price JM, Musto NA and Papadopoulos V. TITLE In vitro reconstitution of a functional peripheral-type benzodiazepine receptor from mouse Leydig tumor cells JOURNAL Mol Pharmacol 45 (2), 201-211 (1994) PUBMED 8114671 REFERENCE 10 (residues 1 to 169) AUTHORS Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS and Budarf M. TITLE Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse JOURNAL Hum Mol Genet 2 (8), 1245-1252 (1993) PUBMED 8401507 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AA472650.1, AK153273.1 and AI841615.1. On Dec 21, 2007 this sequence version replaced NP_033905.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AA472650.1, BQ938533.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..169 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 39.4 cM" Protein 1..169 /product="translocator protein" /note="isoquinoline-binding protein; PKBS; mitochondrial benzodiazepine receptor; peripheral-type benzodiazepine receptor; benzodiazepine receptor, peripheral" /calculated_mol_wt=18710 Site 6..26 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P50637.1)" Region 12..156 /region_name="TspO_MBR" /note="TspO/MBR family; pfam03073" /db_xref="CDD:427122" Site order(14..15,17..18,20..21,24,68,80,82..84,86..87,89..91, 93..94,97..98,117) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:320706" Site order(23,49..50,52..53,95,143,146..147,150) /site_type="lipid-binding" /note="lipid binding site [chemical binding]" /db_xref="CDD:320706" Site 47..67 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P50637.1)" Site 80..100 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P50637.1)" Site 106..126 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P50637.1)" Site 135..155 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P50637.1)" CDS 1..169 /gene="Tspo" /gene_synonym="Bzrp; IBP; PBR; Tspo1" /coded_by="NM_009775.4:102..611" /db_xref="CCDS:CCDS27705.1" /db_xref="GeneID:12257" /db_xref="MGI:MGI:88222" ORIGIN 1 mpeswvpavg ltlvpslggf mgayfvrgeg lrwyaslqkp swhpprwtla piwgtlysam 61 gygsyivwke lggftedamv plglytgqla lnwawppiff garqmgwala dlllvsgvat 121 attlawhrvs ppaarllypy lawlafatvl nyyvwrdnsg rrggsrlpe // LOCUS NP_001390659 734 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 3 [Mus musculus]. ACCESSION NP_001390659 VERSION NP_001390659.1 DBSOURCE REFSEQ: accession NM_001403730.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 734) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 734) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 734) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 734) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 734) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 734) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 734) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 734) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 734) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 734) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR14995044.296149.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..734 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..734 /product="transcriptional repressor CTCF isoform 3" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83443 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 697..724 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..734 /gene="Ctcf" /coded_by="NM_001403730.1:743..2947" /note="isoform 3 is encoded by transcript variant 10" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqpiiqv edqntgaien iivevkkepd aepaegeeee aqaattdapn 721 gdltpemils mmdr // LOCUS NP_034860 346 aa linear ROD 09-OCT-2023 DEFINITION annexin A1 [Mus musculus]. ACCESSION NP_034860 VERSION NP_034860.2 DBSOURCE REFSEQ: accession NM_010730.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 346) AUTHORS Xiao D, Zeng T, Zhu W, Yu ZZ, Huang W, Yi H, Lu SS, Feng J, Feng XP, Wu D, Wen Q, Zhou JH, Yuan L, Zhuang W and Xiao ZQ. TITLE ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers JOURNAL Cancer Immunol Res 11 (10), 1367-1383 (2023) PUBMED 37566399 REMARK GeneRIF: ANXA1 Promotes Tumor Immune Evasion by Binding PARP1 and Upregulating Stat3-Induced Expression of PD-L1 in Multiple Cancers. REFERENCE 2 (residues 1 to 346) AUTHORS Zhang J, Wang H, Liu J, Fu L and Peng S. TITLE ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis JOURNAL Hum Genomics 17 (1), 86 (2023) PUBMED 37735492 REMARK GeneRIF: ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 346) AUTHORS Abd El-Salam M, El-Tanbouly G, Bastos J and Metwaly H. TITLE Suppression of VEGF and inflammatory cytokines, modulation of Annexin A1 and organ functions by galloylquinic acids in breast cancer model JOURNAL Sci Rep 13 (1), 12268 (2023) PUBMED 37507468 REMARK GeneRIF: Suppression of VEGF and inflammatory cytokines, modulation of Annexin A1 and organ functions by galloylquinic acids in breast cancer model. Publication Status: Online-Only REFERENCE 4 (residues 1 to 346) AUTHORS Irie M, Kabata H, Sasahara K, Kurihara M, Shirasaki Y, Kamatani T, Baba R, Matsusaka M, Koga S, Masaki K, Miyata J, Araki Y, Kikawada T, Kabe Y, Suematsu M, Yamagishi M, Uemura S, Moro K and Fukunaga K. TITLE Annexin A1 is a cell-intrinsic metalloregulator of zinc in human ILC2s JOURNAL Cell Rep 42 (6), 112610 (2023) PUBMED 37294636 REFERENCE 5 (residues 1 to 346) AUTHORS Moreli JB, Santos MRD, Calderon IMP, Hebeda CB, Farsky SHP, Bevilacqua E and Oliani SM. TITLE The Role of Annexin A1 in DNA Damage Response in Placental Cells: Impact on Gestational Diabetes Mellitus JOURNAL Int J Mol Sci 24 (12), 10155 (2023) PUBMED 37373303 REMARK GeneRIF: The Role of Annexin A1 in DNA Damage Response in Placental Cells: Impact on Gestational Diabetes Mellitus. Publication Status: Online-Only REFERENCE 6 (residues 1 to 346) AUTHORS Epifano O, Liang LF and Dean J. TITLE Mouse Zp1 encodes a zona pellucida protein homologous to egg envelope proteins in mammals and fish JOURNAL J Biol Chem 270 (45), 27254-27258 (1995) PUBMED 7592984 REFERENCE 7 (residues 1 to 346) AUTHORS Wen XY, Tang S and Breitman ML. TITLE Genetic mapping of two mouse homeobox genes Tlx-1 and Tlx-2 to murine chromosomes 19 and 6 JOURNAL Genomics 24 (2), 388-390 (1994) PUBMED 7698766 REFERENCE 8 (residues 1 to 346) AUTHORS Horlick KR, Cheng IC, Wong WT, Wakeland EK and Nick HS. TITLE Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family JOURNAL Genomics 10 (2), 365-374 (1991) PUBMED 1676980 REFERENCE 9 (residues 1 to 346) AUTHORS Philipps C, Rose-John S, Rincke G, Furstenberger G and Marks F. TITLE cDNA-cloning, sequencing and expression in glucocorticoid-stimulated quiescent Swiss 3T3 fibroblasts of mouse lipocortin I JOURNAL Biochem Biophys Res Commun 159 (1), 155-162 (1989) PUBMED 2522299 REFERENCE 10 (residues 1 to 346) AUTHORS Sakata T, Iwagami S, Tsuruta Y, Suzuki R, Hojo K, Sato K and Teraoka H. TITLE Mouse lipocortin I cDNA JOURNAL Nucleic Acids Res 16 (24), 11818 (1988) PUBMED 2974946 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AK167612.1. On Feb 7, 2007 this sequence version replaced NP_034860.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150564.1, AK150718.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..346 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 13.83 cM" Protein 1..346 /product="annexin A1" /note="p35; annexin I; annexin-1; calpactin II; lipocortin I; chromobindin-9; phospholipase A2 inhibitory protein; calpactin-2; lipocortin 1" /calculated_mol_wt=38603 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 5 /site_type="phosphorylation" /note="Phosphoserine, by TRPM7. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 21 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0007744|PubMed:19131326; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 26..27 /site_type="cleavage" /note="Cleavage, by CTSG. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 27 /site_type="phosphorylation" /note="Phosphoserine, by PKC. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 34 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Site 37 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 42..113 /region_name="Annexin 1. /evidence=ECO:0000255|PROSITE-ProRule:PRU01245" /note="propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 47..111 /region_name="Annexin" /note="pfam00191" /db_xref="CDD:395139" Site 58 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 114..185 /region_name="Annexin 2. /evidence=ECO:0000255|PROSITE-ProRule:PRU01245" /note="propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 118..183 /region_name="Annexin" /note="pfam00191" /db_xref="CDD:395139" Site 136 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P04083; propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 197..269 /region_name="Annexin 3. /evidence=ECO:0000255|PROSITE-ProRule:PRU01245" /note="propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 202..267 /region_name="Annexin" /note="pfam00191" /db_xref="CDD:395139" Region 273..344 /region_name="Annexin 4. /evidence=ECO:0000255|PROSITE-ProRule:PRU01245" /note="propagated from UniProtKB/Swiss-Prot (P10107.2)" Region 277..342 /region_name="Annexin" /note="pfam00191" /db_xref="CDD:395139" Site 312 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P10107.2)" CDS 1..346 /gene="Anxa1" /gene_synonym="Anx-1; Anx-A1; C430014K04Rik; Lpc-1; Lpc1" /coded_by="NM_010730.2:75..1115" /db_xref="CCDS:CCDS29692.1" /db_xref="GeneID:16952" /db_xref="MGI:MGI:96819" ORIGIN 1 mamvseflkq arflenqeqe yvqavksykg gpgsavspyp sfnvssdvaa lhkaimvkgv 61 deatiidilt krtnaqrqqi kaaylqengk pldevlrkal tghleevvla mlktpaqfda 121 delrgamkgl gtdedtliei lttrsneqir einrvyreel krdlakdits dtsgdfrkal 181 lalakgdrcq dlsvnqdlad tdaralyeag errkgtdvnv fttiltsrsf phlrrvfqny 241 gkysqhdmnk aldlelkgdi ekclttivkc atstpaffae klyeamkgag trhkalirim 301 vsrseidmne ikvfyqkkyg islcqailde tkgdyekilv alcggn // LOCUS NP_001300956 688 aa linear ROD 09-OCT-2023 DEFINITION aryl hydrocarbon receptor isoform 2 [Mus musculus]. ACCESSION NP_001300956 VERSION NP_001300956.1 DBSOURCE REFSEQ: accession NM_001314027.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 688) AUTHORS Major J, Crotta S, Finsterbusch K, Chakravarty P, Shah K, Frederico B, D'Antuono R, Green M, Meader L, Suarez-Bonnet A, Priestnall S, Stockinger B and Wack A. TITLE Endothelial AHR activity prevents lung barrier disruption in viral infection JOURNAL Nature 621 (7980), 813-820 (2023) PUBMED 37587341 REMARK GeneRIF: Endothelial AHR activity prevents lung barrier disruption in viral infection. REFERENCE 2 (residues 1 to 688) AUTHORS Sheu ML, Pan LY, Yang CN, Sheehan J, Pan LY, You WC, Wang CC and Pan HC. TITLE Thrombin-Induced Microglia Activation Modulated through Aryl Hydrocarbon Receptors JOURNAL Int J Mol Sci 24 (14), 11416 (2023) PUBMED 37511175 REMARK GeneRIF: Thrombin-Induced Microglia Activation Modulated through Aryl Hydrocarbon Receptors. Publication Status: Online-Only REFERENCE 3 (residues 1 to 688) AUTHORS Balestrieri N, Palzkill V, Pass C, Tan J, Salyers ZR, Moparthy C, Murillo A, Kim K, Thome T, Yang Q, O'Malley KA, Berceli SA, Yue F, Scali ST, Ferreira LF and Ryan TE. TITLE Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease JOURNAL Circ Res 133 (2), 158-176 (2023) PUBMED 37325935 REMARK GeneRIF: Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease. REFERENCE 4 (residues 1 to 688) AUTHORS Liu J, Zhang X, Zhang Y, Qian M, Yang M, Yang S and Wang L. TITLE Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis JOURNAL FASEB J 37 (7), e23035 (2023) PUBMED 37310396 REMARK GeneRIF: Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis. REFERENCE 5 (residues 1 to 688) AUTHORS Haque N, Ojo ES, Krager SL and Tischkau SA. TITLE Deficiency of Adipose Aryl Hydrocarbon Receptor Protects against Diet-Induced Metabolic Dysfunction through Sexually Dimorphic Mechanisms JOURNAL Cells 12 (13), 1748 (2023) PUBMED 37443781 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 688) AUTHORS Okey,A.B., Bondy,G.P., Mason,M.E., Kahl,G.F., Eisen,H.J., Guenthner,T.M. and Nebert,D.W. TITLE Regulatory gene product of the Ah locus. Characterization of the cytosolic inducer-receptor complex and evidence for its nuclear translocation JOURNAL J Biol Chem 254 (22), 11636-11648 (1979) PUBMED 500663 REFERENCE 7 (residues 1 to 688) AUTHORS Levitt,R.C., Fysh,J.M., Jensen,N.M. and Nebert,D.W. TITLE The Ah locus: biochemical basis for genetic differences in brain tumor formation in mice JOURNAL Genetics 92 (4), 1205-1210 (1979) PUBMED 520822 REFERENCE 8 (residues 1 to 688) AUTHORS Wood,A.W. and Taylor,B.A. TITLE Genetic regulation of coumarin hydroxylase activity in mice. Evidence for single locus control on chromosome JOURNAL J Biol Chem 254 (13), 5647-5651 (1979) PUBMED 447675 REFERENCE 9 (residues 1 to 688) AUTHORS Kouri,R.E., Rude,T.H., Joglekar,R., Dansette,P.M., Jerina,D.M., Atlas,S.A., Owens,I.S. and Nebert,D.W. TITLE 2,3,7,8-tetrachlorodibenzo-p-dioxin as cocarcinogen causing 3-methylcholanthrene-initiated subcutaneous tumors in mice genetically 'nonresponsive' at Ah locus JOURNAL Cancer Res 38 (9), 2777-2783 (1978) PUBMED 679184 REFERENCE 10 (residues 1 to 688) AUTHORS Thorgeirsson,S.S. and Nebert,D.W. TITLE The Ah locus and the metabolism of chemical carcinogens and other foreign compounds JOURNAL Adv Cancer Res 25, 149-193 (1977) PUBMED 405846 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK153678.1 and AY662081.1. Summary: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..688 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 15.78 cM" Protein 1..688 /product="aryl hydrocarbon receptor isoform 2" /note="ah receptor; dioxin receptor" /calculated_mol_wt=76921 Region 3..>60 /region_name="PAS" /note="PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in...; cd00130" /db_xref="CDD:238075" Region 174..259 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(177,181,187,201..204,230,235) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(198,202,210,213..214,242,244) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" CDS 1..688 /gene="Ahr" /gene_synonym="Ah; Ahh; Ahre; bHLHe76; In" /coded_by="NM_001314027.1:614..2680" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:11622" /db_xref="MGI:MGI:105043" ORIGIN 1 malngfvlvv tadalvfyas stiqdylgfq qsdvihqsvy elihtedrae fqrqlhwaln 61 pdsaqgvdea hgppqaavyy tpdqlppena sfmercfrcr lrclldnssg flamnfqgrl 121 kylhgqnkkg kdgallppql alfaiatplq ppsileirtk nfifrtkhkl dftpigcdak 181 gqlilgytev elctrgsgyq fihaadilhc aeshirmikt gesgmtvfrl lakhsrwrwv 241 qsnarliyrn grpdyiiatq rpltdeegre hlqkrstslp fmfatgeavl yeisspfspi 301 mdplpirtks ntsrkdwapq stpskdsfhp sslmsaliqq desiylcpps spalldshfl 361 mgsvskcgsw qdsfaaagse aalkheqigh aqdvnlalsg gpselfpdnk nndlysimrn 421 lgidfedirs mqneeffrtd staagevdfk diditdeilt yvqdslnnst llnsacqqqp 481 vtqhlscmlq erlqleqqqq lqqpppqale pqqqlcqmvc pqqdlgpkht qingtfaswn 541 ptppvsfncp qqelkhyqlf sslqgtaqef pykpevdsvp ytqnfapcnq pllpehsksv 601 qldfpgrdfe pslhpttsnl dfvsclqvpe nqshginsqs amvspqayya gamsmyqcqp 661 gpqrtpvdqt qysseipgsq aflskvqs // LOCUS NP_033857 1149 aa linear ROD 09-OCT-2023 DEFINITION phospholipid-transporting ATPase IA isoform b [Mus musculus]. ACCESSION NP_033857 VERSION NP_033857.1 DBSOURCE REFSEQ: accession NM_009727.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1149) AUTHORS Xu H, Oses-Prieto JA, Khvotchev M, Jain S, Liang J, Burlingame A and Edwards RH. TITLE Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1 JOURNAL Nat Neurosci 26 (10), 1685-1700 (2023) PUBMED 37723322 REMARK GeneRIF: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1. REFERENCE 2 (residues 1 to 1149) AUTHORS Zheng L, Pan C, Tian W, Liang C, Feng Y, He W, Yang Z, Wang B, Qiu Q, Li N, Sun Y, Qiu H, Sample KM, Zhou L, Zhu X and Hu Y. TITLE Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function JOURNAL Cell Oncol (Dordr) 46 (4), 1069-1083 (2023) PUBMED 36930333 REMARK GeneRIF: Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function. REFERENCE 3 (residues 1 to 1149) AUTHORS Kook S, Wang P, Meng S, Jetter CS, Sucre JMS, Benjamin JT, Gokey JJ, Hanby HA, Jaume A, Goetzl L, Marks MS and Guttentag SH. TITLE AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells JOURNAL Proc Natl Acad Sci U S A 118 (20) (2021) PUBMED 33990468 REFERENCE 4 (residues 1 to 1149) AUTHORS Yap YT, Li YH, Li W, Banerjee P and Zhang Z. TITLE ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility JOURNAL Mol Reprod Dev 88 (5), 371-375 (2021) PUBMED 33821543 REMARK GeneRIF: ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility. REFERENCE 5 (residues 1 to 1149) AUTHORS Jing W, Yabas M, Broer A, Coupland L, Gardiner EE, Enders A and Broer S. TITLE Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets JOURNAL Blood Adv 3 (3), 219-229 (2019) PUBMED 30674456 REMARK GeneRIF: ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation. REFERENCE 6 (residues 1 to 1149) AUTHORS Wang L, Beserra C and Garbers DL. TITLE A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization JOURNAL Dev Biol 267 (1), 203-215 (2004) PUBMED 14975727 REMARK GeneRIF: role in normal phospholipid distribution in the bilayer, and for normal binding, penetration, and signaling by the zona pellucida REFERENCE 7 (residues 1 to 1149) AUTHORS Ding J, Wu Z, Crider BP, Ma Y, Li X, Slaughter C, Gong L and Xie XS. TITLE Identification and functional expression of four isoforms of ATPase II, the putative aminophospholipid translocase. Effect of isoform variation on the ATPase activity and phospholipid specificity JOURNAL J Biol Chem 275 (30), 23378-23386 (2000) PUBMED 10801890 REFERENCE 8 (residues 1 to 1149) AUTHORS Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S and Wada K. TITLE YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes JOURNAL Genomics 66 (3), 333-336 (2000) PUBMED 10873389 REFERENCE 9 (residues 1 to 1149) AUTHORS Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P and Schlegel RA. TITLE Differential expression of putative transbilayer amphipath transporters JOURNAL Physiol Genomics 1 (3), 139-150 (1999) PUBMED 11015572 REMARK Publication Status: Online-Only REFERENCE 10 (residues 1 to 1149) AUTHORS Halleck MS, Pradhan D, Blackman C, Berkes C, Williamson P and Schlegel RA. TITLE Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs JOURNAL Genome Res 8 (4), 354-361 (1998) PUBMED 9548971 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK151709.1, AK045367.1, AK141559.1, AK039919.1, BC094235.1 and AC123662.13. Transcript Variant: This variant (2) contains an alternate exon and lacks two other alternate exons in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter than isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK076388.1, U75321.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1149 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 36.15 cM" Protein 1..1149 /product="phospholipid-transporting ATPase IA isoform b" /EC_number="7.6.2.1" /note="probable phospholipid-transporting ATPase IA; chromaffin granule ATPase II; ATPase class I type 8A member 1; ATPase 8A1, p type; ATPase 8A1, aminophospholipid transporter (APLT), class I; P4-ATPase flippase complex alpha subunit ATP8A1; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" /calculated_mol_wt=129636 Region 49..1071 /region_name="ATPase-Plipid" /note="phospholipid-translocating P-type ATPase, flippase; TIGR01652" /db_xref="CDD:273734" CDS 1..1149 /gene="Atp8a1" /gene_synonym="APLT; Atp3a2; B230107D19Rik; ClassI" /coded_by="NM_009727.3:222..3671" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS39105.1" /db_xref="GeneID:11980" /db_xref="MGI:MGI:1330848" ORIGIN 1 mptmrrtvse irsraegyek tddvsektsl adqeevrtif inqpqltkfc nnhvstakyn 61 vitflprfly sqfrraansf flfiallqqi pdvsptgryt tlvpllfila vaaikeiied 121 ikrhkadnav nkkqtqvlrn gaweivhwek vnvgdiviik gkeyipadtv llsssepqam 181 cyietsnldg etnlkirqgl patsdikdid slmrisgrie cespnrhlyd fvgnirldgh 241 gtvplgadqi llrgaqlrnt qwvhgivvyt ghdtklmqns tspplklsnv eritnvqili 301 lfciliamsl vcsvgsaiwn rrhsgkdwyl hlhyggasnf glnfltfiil fnnlipisll 361 vtlevvkftq ayfinwdldm hyeptdtaam artsnlneel gqvkyifsdk tgtltcnvmq 421 fkkctiagva ygqssqfgde ktfndpslld nlqnnhptap iicefltmma vchtavpere 481 gdkiiyqaas pdegalvraa kqlnfvftgr tpdsviidsl gqeeryelln vleftsarkr 541 msvvvrtpsg klrlyckgad tviyerlaet skykeitlkh leqfateglr tlcfavaeis 601 esdfeewrav yhrastsvqn rllkleesye lieknlqllg ataiedklqd qvpetietlm 661 kadikiwilt gdkqetaini ghscrllkrn mgmivinegs ldgtretlsr hcttlgdalr 721 kendfaliid gktlkyaltf gvrqyfldla lsckaviccr vsplqksevv emvkkqvkvi 781 tlaigdgand vsmiqtahvg vgisgneglq aanssdysia qfkylknllm vhgawnynrv 841 skcilycfyk nivlyiieiw fafvngfsgq ilferwcigl ynvmftampp ltlgifersc 901 rkenmlkype lyktsqnald fntkvfwvhc lnglfhsvil fwfplkalqy gtvfgngkts 961 dylllgnfvy tfvvitvclk agletsywtw fshiaiwgsi alwvvffgiy sslwpavpma 1021 pdmsgeaaml fssgvfwvgl lsipvaslll dvlykvikrt afktlvdevq eleaksqdpg 1081 avvlgkslte raqllknvfk knhvnlyrse slqqnllhgy afsqdengiv sqsevirayd 1141 ttkqrpdew // LOCUS NP_001394508 426 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 3 [Mus musculus]. ACCESSION NP_001394508 VERSION NP_001394508.1 DBSOURCE REFSEQ: accession NM_001407579.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 426) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 426) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 426) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 426) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 426) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 426) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 426) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 426) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 426) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 426) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784646.1309172.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..426 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..426 /product="mitogen-activated protein kinase 10 isoform 3" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=47997 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..426 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407579.1:655..1935" /note="isoform 3 is encoded by transcript variant 14" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsg aavnsseslp psssvndiss mstdqtlasd tdssleasag 421 plgccr // LOCUS NP_001297542 472 aa linear ROD 09-OCT-2023 DEFINITION mixed lineage kinase domain-like protein isoform 1 [Mus musculus]. ACCESSION NP_001297542 XP_006531504 VERSION NP_001297542.1 DBSOURCE REFSEQ: accession NM_001310613.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 472) AUTHORS Garnish SE, Martin KR, Kauppi M, Jackson VE, Ambrose R, Eng VV, Chiou S, Meng Y, Frank D, Tovey Crutchfield EC, Patel KM, Jacobsen AV, Atkin-Smith GK, Di Rago L, Doerflinger M, Horne CR, Hall C, Young SN, Cook M, Athanasopoulos V, Vinuesa CG, Lawlor KE, Wicks IP, Ebert G, Ng AP, Slade CA, Pearson JS, Samson AL, Silke J, Murphy JM and Hildebrand JM. TITLE A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation JOURNAL Nat Commun 14 (1), 6046 (2023) PUBMED 37770424 REMARK GeneRIF: A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation. Publication Status: Online-Only REFERENCE 2 (residues 1 to 472) AUTHORS Wang S and Xu M. TITLE RIP3/MLKL regulates necroptosis via activating 4EBP1-eIF4E pathway JOURNAL Zhong Nan Da Xue Xue Bao Yi Xue Ban 48 (7), 979-985 (2023) PUBMED 37724400 REMARK GeneRIF: RIP3/MLKL regulates necroptosis via activating 4EBP1-eIF4E pathway. REFERENCE 3 (residues 1 to 472) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 472) AUTHORS Yan M, Li H, Xu S, Wu J, Li J, Xiao C, Mo C and Ding BS. TITLE Targeting Endothelial Necroptosis Disrupts Profibrotic Endothelial-Hepatic Stellate Cells Crosstalk to Alleviate Liver Fibrosis in Nonalcoholic Steatohepatitis JOURNAL Int J Mol Sci 24 (14), 11313 (2023) PUBMED 37511074 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 472) AUTHORS Vucur M, Ghallab A, Schneider AT, Adili A, Cheng M, Castoldi M, Singer MT, Buttner V, Keysberg LS, Kusgens L, Kohlhepp M, Gorg B, Gallage S, Barragan Avila JE, Unger K, Kordes C, Leblond AL, Albrecht W, Loosen SH, Lohr C, Jordens MS, Babler A, Hayat S, Schumacher D, Koenen MT, Govaere O, Boekschoten MV, Jors S, Villacorta-Martin C, Mazzaferro V, Llovet JM, Weiskirchen R, Kather JN, Starlinger P, Trauner M, Luedde M, Heij LR, Neumann UP, Keitel V, Bode JG, Schneider RK, Tacke F, Levkau B, Lammers T, Fluegen G, Alexandrov T, Collins AL, Nelson G, Oakley F, Mann DA, Roderburg C, Longerich T, Weber A, Villanueva A, Samson AL, Murphy JM, Kramann R, Geisler F, Costa IG, Hengstler JG, Heikenwalder M and Luedde T. TITLE Sublethal necroptosis signaling promotes inflammation and liver cancer JOURNAL Immunity 56 (7), 1578-1595 (2023) PUBMED 37329888 REFERENCE 6 (residues 1 to 472) AUTHORS Wu J, Huang Z, Ren J, Zhang Z, He P, Li Y, Ma J, Chen W, Zhang Y, Zhou X, Yang Z, Wu SQ, Chen L and Han J. TITLE Mlkl knockout mice demonstrate the indispensable role of Mlkl in necroptosis JOURNAL Cell Res 23 (8), 994-1006 (2013) PUBMED 23835476 REMARK GeneRIF: Neither Mlkl nor Rip3 deficiency provided protection against polymicrobial sepsis-induced animal death in the study of septic shock induced by CLP. REFERENCE 7 (residues 1 to 472) AUTHORS Chen W, Zhou Z, Li L, Zhong CQ, Zheng X, Wu X, Zhang Y, Ma H, Huang D, Li W, Xia Z and Han J. TITLE Diverse sequence determinants control human and mouse receptor interacting protein 3 (RIP3) and mixed lineage kinase domain-like (MLKL) interaction in necroptotic signaling JOURNAL J Biol Chem 288 (23), 16247-16261 (2013) PUBMED 23612963 REMARK GeneRIF: the importance of the RIP3-MLKL interaction in the formation of functional necrosomes and suggest that translocation of necrosomes to mitochondria-associated membranes is essential for necroptosis signaling. REFERENCE 8 (residues 1 to 472) AUTHORS Zhao J, Jitkaew S, Cai Z, Choksi S, Li Q, Luo J and Liu ZG. TITLE Mixed lineage kinase domain-like is a key receptor interacting protein 3 downstream component of TNF-induced necrosis JOURNAL Proc Natl Acad Sci U S A 109 (14), 5322-5327 (2012) PUBMED 22421439 REFERENCE 9 (residues 1 to 472) AUTHORS Sun L, Wang H, Wang Z, He S, Chen S, Liao D, Wang L, Yan J, Liu W, Lei X and Wang X. TITLE Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase JOURNAL Cell 148 (1-2), 213-227 (2012) PUBMED 22265413 REMARK GeneRIF: Findings implicate MLKL as a key mediator of necrosis signaling downstream of the kinase RIP3. REFERENCE 10 (residues 1 to 472) AUTHORS Bisson N, Tremblay M, Robinson F, Kaplan DR, Trusko SP and Moss T. TITLE Mice lacking both mixed-lineage kinase genes Mlk1 and Mlk2 retain a wild type phenotype JOURNAL Cell Cycle 7 (7), 909-916 (2008) PUBMED 18414056 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC163625.5, BY740989.1, AK018636.1 and BY467591.1. On Jul 16, 2015 this sequence version replaced XP_006531504.1. Summary: This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to lack protein kinase activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (Rip3), which is a key signaling molecule in necroptosis pathway. Knockout of this gene in mice showed that it is essential for necroptosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK018636.1, SRR13422586.194038.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..472 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 57.98 cM" Protein 1..472 /product="mixed lineage kinase domain-like protein isoform 1" /note="mixed lineage kinase domain-like protein" /calculated_mol_wt=54187 Region 1..143 /region_name="N-terminal bundle and brace (NBB), mediates INSP6 binding. /evidence=ECO:0000250|UniProtKB:Q8NB16" /note="propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Region 5..143 /region_name="MLKL_NTD" /note="N-terminal domain of mixed lineage kinase domain-like protein (MLKL) and similar proteins; cd21037" /db_xref="CDD:411030" Site 124 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8NB16; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Region 130..>179 /region_name="COG7" /note="Golgi complex component 7 (COG7); pfam10191" /db_xref="CDD:431125" Region 198..446 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Site 345 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 347 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 349 /site_type="phosphorylation" /note="Phosphothreonine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 352 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" CDS 1..472 /gene="Mlkl" /gene_synonym="9130019I15Rik" /coded_by="NM_001310613.1:385..1803" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS80932.1" /db_xref="GeneID:74568" /db_xref="MGI:MGI:1921818" ORIGIN 1 mdklgqiikl gqliyeqcek mkycrkqcqr lgnrvhgllq plqrlqaqgk knlpdditaa 61 lgrfdevlke anqqiekfsk kshiwkfvsv gndkilfhev neklrdvwee lllllqvyhw 121 ntvsdvsqpa swqqedrqda eedgnenmkv ilmqlqisve einktlkqcs lkptqeipqd 181 lqikeipkeh lgppwtklkt skmstiyrge yhrspvtikv fnnpqaesvg ivrftfndei 241 ktmkkfdspn ilrifgicid qtvkppefsi vmeycelgtl relldrekdl tmsvrsllvl 301 raarglyrlh hsetlhrnis sssflvaggy qvklagfels ktqnsisrta kstkaersss 361 tiyvsperlk npfclydika eiysfgivlw eiatgkipfe gcdskkirel vaedkkqepv 421 gqdcpellre iinecrahep sqrpsvdgrs lsgreriler lsaveestdk kv // LOCUS NP_848706 700 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 1 [Mus musculus]. ACCESSION NP_848706 XP_620642 XP_898476 XP_905896 XP_905899 XP_905900 XP_905904 XP_905910 XP_905914 XP_905917 XP_905925 XP_905928 XP_918086 XP_927655 XP_927663 XP_927670 XP_927687 XP_927696 XP_927700 XP_927710 XP_927716 XP_927722 XP_927729 XP_991369 XP_991396 XP_991424 XP_991456 XP_991488 XP_991519 XP_991552 XP_991586 XP_991659 XP_991699 XP_991739 XP_991776 XP_991819 XP_993308 XP_995342 XP_995372 VERSION NP_848706.2 DBSOURCE REFSEQ: accession NM_178591.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 700) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 700) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 700) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 700) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 700) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 700) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 700) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 700) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 700) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 700) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY238526.1, AC132407.3, AK141037.1, AY648975.1 and AC127374.4. On or before Feb 3, 2007 this sequence version replaced XP_905896.1, XP_995372.1, XP_995342.1, XP_898476.1, XP_905899.1, XP_905904.1, XP_905910.1, XP_905928.1, XP_905925.1, XP_905914.1, XP_905917.1, XP_905900.1, XP_927655.1, XP_927729.1, XP_927722.1, XP_927700.1, XP_918086.1, XP_927663.1, XP_927670.1, XP_927687.1, XP_620642.3, XP_927716.1, XP_927710.1, XP_993308.1, XP_927696.1, XP_991776.1, XP_991739.1, XP_991699.1, XP_991819.1, XP_991488.1, XP_991586.1, XP_991369.1, XP_991552.1, XP_991456.1, XP_991659.1, XP_991424.1, XP_991396.1, XP_991519.1, NP_848706.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC151113.1, AY648975.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..700 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..700 /product="pro-neuregulin-1, membrane-bound isoform isoform 1" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=76374 Region 245..275 /region_name="EGF" /note="EGF-like domain; pfam00008" /db_xref="CDD:394967" Region 327..682 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..700 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_178591.3:641..2743" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS40315.1" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfykhlgi efmeaeelyq 301 krvltitgic iallvvgimc vvaycktkkq rqklhdrlrq slrsernnmv niangphhpn 361 pppenvqlvn qyvsknviss ehiverevet sfstshytst ahhsttvtqt pshswsnght 421 esiiseshsv immssvensr hsspaggprg rlhglggpre cnsflrhare tpdsyrdsph 481 seryvsamtt parmspvdfh tpsspkspps emsppvssmt vsmpsvavsp fveeerplll 541 vtpprlrekk ydhhpqqlns fhhnpahqst slppsplriv edeeyettqe yepiqepikk 601 vtnsrrakrt kpnghianrl emdsnpssvs snsesetede rvgedtpflg iqnplaasle 661 vapafrlaes rtnpagrfst qeelqarlss vianqdpiav // LOCUS NP_001297614 464 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 4 [Mus musculus]. ACCESSION NP_001297614 XP_006535009 XP_017176375 VERSION NP_001297614.1 DBSOURCE REFSEQ: accession NM_001310685.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 464) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 464) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 464) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 464) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 464) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 464) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 464) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 464) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On or before Jun 6, 2022 this sequence version replaced XP_017176375.1, XP_006535009.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (4) contains an alternate in-frame coding exon compared to variant 1. The resulting isoform (4, also known as JNK3 beta2) is the same length; however, contains a different 24 aa protein segment compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219381.307151.1, SRR17784647.287057.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..464 /product="mitogen-activated protein kinase 10 isoform 4" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=52157 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..464 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001310685.2:517..1911" /note="isoform 4 is encoded by transcript variant 4" /db_xref="CCDS:CCDS80350.1" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdlwsvg cimgemvkgt vlfpgtdhid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccr // LOCUS NP_001276392 750 aa linear ROD 09-OCT-2023 DEFINITION neprilysin [Mus musculus]. ACCESSION NP_001276392 XP_006501159 VERSION NP_001276392.1 DBSOURCE REFSEQ: accession NM_001289463.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 750) AUTHORS Esser N, Mongovin SM, Mundinger TO, Barrow BM and Zraika S. TITLE Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice JOURNAL Peptides 168, 171076 (2023) PUBMED 37572792 REMARK GeneRIF: Neprilysin deficiency reduces hepatic gluconeogenesis in high fat-fed mice. REFERENCE 2 (residues 1 to 750) AUTHORS Esser N, Mundinger TO, Barrow BM and Zraika S. TITLE Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice JOURNAL Endocrinology 164 (5) (2023) PUBMED 36964914 REMARK GeneRIF: Acute Inhibition of Intestinal Neprilysin Enhances Insulin Secretion via GLP-1 Receptor Signaling in Male Mice. REFERENCE 3 (residues 1 to 750) AUTHORS Ortiz C, Klein S, Reul WH, Magdaleno F, Groschl S, Dietrich P, Schierwagen R, Uschner FE, Torres S, Hieber C, Meier C, Kraus N, Tyc O, Brol M, Zeuzem S, Welsch C, Poglitsch M, Hellerbrand C, Alfonso-Prieto M, Mira F, Keller UAD, Tetzner A, Moore A, Walther T and Trebicka J. TITLE Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1 JOURNAL Cell Rep 42 (2), 112059 (2023) PUBMED 36729833 REMARK GeneRIF: Neprilysin-dependent neuropeptide Y cleavage in the liver promotes fibrosis by blocking NPY-receptor 1. REFERENCE 4 (residues 1 to 750) AUTHORS Chen Y and Burnett JC Jr. TITLE Biochemistry, Therapeutics, and Biomarker Implications of Neprilysin in Cardiorenal Disease JOURNAL Clin Chem 63 (1), 108-115 (2017) PUBMED 28062615 REMARK Review article REFERENCE 5 (residues 1 to 750) AUTHORS Bayes-Genis A, Barallat J and Richards AM. TITLE A Test in Context: Neprilysin: Function, Inhibition, and Biomarker JOURNAL J Am Coll Cardiol 68 (6), 639-653 (2016) PUBMED 27491909 REMARK Review article REFERENCE 6 (residues 1 to 750) AUTHORS Turner AJ and Nalivaeva NN. TITLE Proteinase dysbalance in pathology: the neprilysin (NEP) and angiotensin-converting enzyme (ACE) families JOURNAL Cell Mol Biol (Noisy-le-grand) 52 (4), 40-48 (2006) PUBMED 17543197 REMARK Review article Publication Status: Online-Only REFERENCE 7 (residues 1 to 750) AUTHORS Weil M, Itin A and Keshet E. TITLE A role for mesenchyme-derived tachykinins in tooth and mammary gland morphogenesis JOURNAL Development 121 (8), 2419-2428 (1995) PUBMED 7545574 REFERENCE 8 (residues 1 to 750) AUTHORS Kalled SL, Siva N, Stein H and Reinherz EL. TITLE The distribution of CD10 (NEP 24.11, CALLA) in humans and mice is similar in non-lymphoid organs but differs within the hematopoietic system: absence on murine T and B lymphoid progenitors JOURNAL Eur J Immunol 25 (3), 677-687 (1995) PUBMED 7705396 REFERENCE 9 (residues 1 to 750) AUTHORS Watson ML, Rao JK, Gilkeson GS, Ruiz P, Eicher EM, Pisetsky DS, Matsuzawa A, Rochelle JM and Seldin MF. TITLE Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci JOURNAL J Exp Med 176 (6), 1645-1656 (1992) PUBMED 1460423 REFERENCE 10 (residues 1 to 750) AUTHORS Chen CY, Salles G, Seldin MF, Kister AE, Reinherz EL and Shipp MA. TITLE Murine common acute lymphoblastic leukemia antigen (CD10 neutral endopeptidase 24.11). Molecular characterization, chromosomal localization, and modeling of the active site JOURNAL J Immunol 148 (9), 2817-2825 (1992) PUBMED 1374101 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121993.2, AK033824.1, AK031446.1 and AC121840.3. On Jan 22, 2014 this sequence version replaced XP_006501159.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK033824.1, BC034092.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..750 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 29.97 cM" Protein 1..750 /product="neprilysin" /EC_number="3.4.24.11" /note="common acute lymphoblastic leukemia antigen; enkephalinase; atriopeptidase; neutral endopeptidase 24.11; skin fibroblast elastase" /calculated_mol_wt=85571 Site 4 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 6 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 16..23 /region_name="Stop-transfer sequence. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 29..51 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q61391.3)" Region 77..748 /region_name="M13" /note="Peptidase family M13 includes neprilysin and endothelin-converting enzyme I; cd08662" /db_xref="CDD:341056" Site order(107,537,542..545,564,580..581,584..585,588,647,690, 693..694,711..712,718) /site_type="active" /db_xref="CDD:341056" Site 145 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 211 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 285 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 325 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" Site 628 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08473; propagated from UniProtKB/Swiss-Prot (Q61391.3)" CDS 1..750 /gene="Mme" /gene_synonym="6030454K05Rik; CALLA; CD10; NEP; SFE" /coded_by="NM_001289463.1:239..2491" /db_xref="CCDS:CCDS17381.1" /db_xref="GeneID:17380" /db_xref="MGI:MGI:97004" ORIGIN 1 mgrsesqmdi tdinapkpkk kqrwtpleis lsvlvlllti iavtmialya tyddgickss 61 dciksaarli qnmdasvepc tdffkyacgg wlkrnvipet ssrysnfdil rdelevilkd 121 vlqepktedi vavqkaktly rscinesaid srggqpllkl lpdiygwpva sdnwdqtygt 181 swtaeksiaq lnskygkkvl inffvgtddk nstqhiihfd qprlglpsrd yyectgiyke 241 actayvdfmi svarlirqeq slpidenqls lemnkvmele keianattkp edrndpmlly 301 nkmtlaklqn nfslevngks fswsnftnei mstvniniqn eeevvvyape yltklkpilt 361 kysprdlqnl mswrfimdlv sslsrnykes rnafrkalyg ttsetatwrr canyvngnme 421 navgrlyvea afageskhvv edliaqirev fiqtlddltw mdaetkkkae ekalaikeri 481 gypddiisne nklnneylel nyredeyfen iiqnlkfsqs kqlkklrekv dkdewisgaa 541 vvnafyssgr nqivfpagil qppffsaqqs nslnyggigm vigheithgf ddngrnfnkd 601 gdlvdwwtqq sannfkdqsq cmvyqygnfs wdlaggqhln gintlgenia dnggigqayr 661 ayqnyvkkng eekllpgldl nhkqlfflnf aqvwcgtyrp eyavnsiktd vhspgnfrii 721 gtlqnsaefa dafhcrknsy mnperkcrvw // LOCUS NP_032252 863 aa linear ROD 09-OCT-2023 DEFINITION potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 [Mus musculus]. ACCESSION NP_032252 XP_990525 VERSION NP_032252.1 DBSOURCE REFSEQ: accession NM_008226.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 863) AUTHORS Zheng Y, Shao S, Zhang Y, Yuan S, Xing Y, Wang J, Qi X, Cui K, Tong J, Liu F, Cui S, Wan Y and Yi M. TITLE HCN2 Channels in the Ventral Hippocampal CA1 Regulate Nociceptive Hypersensitivity in Mice JOURNAL Int J Mol Sci 24 (18), 13823 (2023) PUBMED 37762124 REMARK GeneRIF: HCN2 Channels in the Ventral Hippocampal CA1 Regulate Nociceptive Hypersensitivity in Mice. Publication Status: Online-Only REFERENCE 2 (residues 1 to 863) AUTHORS Yan Y, Zhu M, Cao X, Xu G, Shen W, Li F, Zhang J, Luo L, Zhang X, Zhang D and Liu T. TITLE Thalamocortical Circuit Controls Neuropathic Pain via Up-regulation of HCN2 in the Ventral Posterolateral Thalamus JOURNAL Neurosci Bull 39 (5), 774-792 (2023) PUBMED 36538279 REMARK GeneRIF: Thalamocortical Circuit Controls Neuropathic Pain via Up-regulation of HCN2 in the Ventral Posterolateral Thalamus. REFERENCE 3 (residues 1 to 863) AUTHORS Kwon J, Choi YI, Jo HJ, Lee SH, Lee HK, Kim H, Moon JY and Jung SJ. TITLE The Role of Prostaglandin E1 as a Pain Mediator through Facilitation of Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 2 via the EP2 Receptor in Trigeminal Ganglion Neurons of Mice JOURNAL Int J Mol Sci 22 (24), 13534 (2021) PUBMED 34948328 REMARK GeneRIF: The Role of Prostaglandin E1 as a Pain Mediator through Facilitation of Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 2 via the EP2 Receptor in Trigeminal Ganglion Neurons of Mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 863) AUTHORS Lyman KA, Han Y, Zhou C, Renteria I, Besing GL, Kurz JE and Chetkovich DM. TITLE Hippocampal cAMP regulates HCN channel function on two time scales with differential effects on animal behavior JOURNAL Sci Transl Med 13 (621), eabl4580 (2021) PUBMED 34818058 REFERENCE 5 (residues 1 to 863) AUTHORS Schlusche AK, Vay SU, Kleinenkuhnen N, Sandke S, Campos-Martin R, Florio M, Huttner W, Tresch A, Roeper J, Rueger MA, Jakovcevski I, Stockebrand M and Isbrandt D. TITLE Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice JOURNAL Proc Natl Acad Sci U S A 118 (35) (2021) PUBMED 34429357 REFERENCE 6 (residues 1 to 863) AUTHORS Zong X, Stieber J, Ludwig A, Hofmann F and Biel M. TITLE A single histidine residue determines the pH sensitivity of the pacemaker channel HCN2 JOURNAL J Biol Chem 276 (9), 6313-6319 (2001) PUBMED 11096117 REFERENCE 7 (residues 1 to 863) AUTHORS Chen J, Mitcheson JS, Lin M and Sanguinetti MC. TITLE Functional roles of charged residues in the putative voltage sensor of the HCN2 pacemaker channel JOURNAL J Biol Chem 275 (46), 36465-36471 (2000) PUBMED 10962006 REFERENCE 8 (residues 1 to 863) AUTHORS Ludwig A, Zong X, Jeglitsch M, Hofmann F and Biel M. TITLE A family of hyperpolarization-activated mammalian cation channels JOURNAL Nature 393 (6685), 587-591 (1998) PUBMED 9634236 REFERENCE 9 (residues 1 to 863) AUTHORS Santoro B, Liu DT, Yao H, Bartsch D, Kandel ER, Siegelbaum SA and Tibbs GR. TITLE Identification of a gene encoding a hyperpolarization-activated pacemaker channel of brain JOURNAL Cell 93 (5), 717-729 (1998) PUBMED 9630217 REFERENCE 10 (residues 1 to 863) AUTHORS Santoro B, Grant SG, Bartsch D and Kandel ER. TITLE Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels JOURNAL Proc Natl Acad Sci U S A 94 (26), 14815-14820 (1997) PUBMED 9405696 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC151828.3, AF064873.1 and CX242892.1. On May 4, 2006 this sequence version replaced XP_990525.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ225122.1, AB154248.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..863 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="10" /map="10 39.72 cM" Protein 1..863 /product="potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2" /note="HAC-1; BCNG-2; brain cyclic nucleotide-gated channel 2; hyperpolarization-activated cation channel 1" /calculated_mol_wt=94591 Region 1..131 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 119 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Region 131..182 /region_name="Involved in subunit assembly" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 134 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9JKA9; propagated from UniProtKB/Swiss-Prot (O88703.1)" Region 140..182 /region_name="Ion_trans_N" /note="Ion transport protein N-terminal; pfam08412" /db_xref="CDD:400630" Region 175..>661 /region_name="PLN03192" /note="Voltage-dependent potassium channel; Provisional" /db_xref="CDD:215625" Site 189..209 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 214..234 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 262..282 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 291..311 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 343..363 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 380 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 414..434 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Region 517..625 /region_name="CAP_ED" /note="effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO...; cd00038" /db_xref="CDD:237999" Site order(581..582,591..593) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:237999" Site order(613..615,619..621) /site_type="other" /note="flexible hinge region" /db_xref="CDD:237999" Site 641 /site_type="phosphorylation" /note="Phosphoserine, by PKG/PRKG2. /evidence=ECO:0000269|PubMed:21347269; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 726 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9JKA9; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 728 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0007744|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (O88703.1)" Region 730..863 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 743 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 750 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 757 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Region <769..>862 /region_name="PRK07003" /note="DNA polymerase III subunit gamma/tau" /db_xref="CDD:235906" Site 840 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 842 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" Site 847 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O88703.1)" CDS 1..863 /gene="Hcn2" /gene_synonym="BCNG2; HAC1; trls" /coded_by="NM_008226.2:36..2627" /db_xref="CCDS:CCDS23986.1" /db_xref="GeneID:15166" /db_xref="MGI:MGI:1298210" ORIGIN 1 mdarggggrp gdspgttpap gppppppppa ppqpqpppap ppnpttpshp esadepgpra 61 rlcsrdsact pgaakggang ecgrgepqcs pegpargpkv sfscrgaasg psaaeeagse 121 eagpageprg sqasflqrqf gallqpgvnk fslrmfgsqk avereqervk sagawiihpy 181 sdfrfywdft mllfmvgnli iipvgitffk dettapwivf nvvsdtfflm dlvlnfrtgi 241 viednteiil dpekikkkyl rtwfvvdfvs sipvdyifli vekgidsevy ktaralrivr 301 ftkilsllrl lrlsrliryi hqweeifhmt ydlasavmri cnlismmlll chwdgclqfl 361 vpmlqdfpsd cwvsinnmvn hswselysfa lfkamshmlc igygrqapes mtdiwltmls 421 mivgatcyam fighataliq sldssrrqyq ekykqveqym sfhklpadfr qkihdyyehr 481 yqgkmfdeds ilgelngplr eeivnfncrk lvasmplfan adpnfvtaml tklkfevfqp 541 gdyiiregti gkkmyfiqhg vvsvltkgnk emklsdgsyf geiclltrgr rtasvradty 601 crlyslsvdn fnevleeypm mrrafetvai drldrigkkn sillhkvqhd lssgvfnnqe 661 naiiqeivky dremvqqael gqrvglfppp pppqvtsaia tlqqavamsf cpqvarplvg 721 plalgsprlv rrappgplpp aaspgppaas ppaapsspra prtspygvpg spatrvgpal 781 parrlsrasr plsasqpslp hgvpapspaa sarpassstp rlgpaptart aapspdrrds 841 aspgaasgld pldsarsrls snl // LOCUS NP_001155218 94 aa linear ROD 09-OCT-2023 DEFINITION tumor necrosis factor receptor superfamily member 12A isoform 2 precursor [Mus musculus]. ACCESSION NP_001155218 VERSION NP_001155218.1 DBSOURCE REFSEQ: accession NM_001161746.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 94) AUTHORS Ruiz BI, Lowman XH, Yang Y, Fan Q, Wang T, Wu H, Hanse EA and Kong M. TITLE Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia JOURNAL Genes (Basel) 14 (9), 1818 (2023) PUBMED 37761958 REMARK GeneRIF: Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 94) AUTHORS Short C, Zhong A, Xu J, Mahdi E, Glazier A, Malkoff N, Noriega N, Yeo T, Asahina K and Wang KS. TITLE TWEAK/FN14 promotes profibrogenic pathway activation in Prominin-1-expressing hepatic progenitor cells in biliary atresia JOURNAL Hepatology 77 (5), 1639-1653 (2023) PUBMED 36626628 REMARK GeneRIF: TWEAK/FN14 promotes profibrogenic pathway activation in Prominin-1-expressing hepatic progenitor cells in biliary atresia. REFERENCE 3 (residues 1 to 94) AUTHORS Wang X, Lu M, Gu H, Xiao T, Hu G, Luo M, Guo X and Xia Y. TITLE Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice JOURNAL J Invest Dermatol 143 (2), 242-253 (2023) PUBMED 36063885 REMARK GeneRIF: Conjugation of the Fn14 Ligand to a SMAC Mimetic Selectively Suppresses Experimental Squamous Cell Carcinoma in Mice. REFERENCE 4 (residues 1 to 94) AUTHORS Tomaz da Silva M, Joshi AS, Koike TE, Roy A, Mathukumalli K, Sopariwala DH, Narkar VA and Kumar A. TITLE Targeted ablation of Fn14 receptor improves exercise capacity and inhibits neurogenic muscle atrophy JOURNAL FASEB J 36 (12), e22666 (2022) PUBMED 36412933 REMARK GeneRIF: Targeted ablation of Fn14 receptor improves exercise capacity and inhibits neurogenic muscle atrophy. REFERENCE 5 (residues 1 to 94) AUTHORS Ortega MA, Villiger RK, Harrison-Chau M, Lieu S, Tamashiro KK, Lee AJ, Fujimoto BA, Patwardhan GY, Kepler J and Fogelgren B. TITLE Exocyst inactivation in urothelial cells disrupts autophagy and activates non-canonical NF-kappaB signaling JOURNAL Dis Model Mech 15 (10) (2022) PUBMED 36004645 REFERENCE 6 (residues 1 to 94) AUTHORS Polek TC, Talpaz M, Darnay BG and Spivak-Kroizman T. TITLE TWEAK mediates signal transduction and differentiation of RAW264.7 cells in the absence of Fn14/TweakR. Evidence for a second TWEAK receptor JOURNAL J Biol Chem 278 (34), 32317-32323 (2003) PUBMED 12794080 REMARK GeneRIF: findings show that the Fn14/TWEAK receptor (TweakR) was not responsible for the osteoclastic effect of TWEAK on RAW cells REFERENCE 7 (residues 1 to 94) AUTHORS Brown SA, Richards CM, Hanscom HN, Feng SL and Winkles JA. TITLE The Fn14 cytoplasmic tail binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation JOURNAL Biochem J 371 (Pt 2), 395-403 (2003) PUBMED 12529173 REMARK GeneRIF: The cytoplasmic tail of this protein binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation. REFERENCE 8 (residues 1 to 94) AUTHORS Wiley SR, Cassiano L, Lofton T, Davis-Smith T, Winkles JA, Lindner V, Liu H, Daniel TO, Smith CA and Fanslow WC. TITLE A novel TNF receptor family member binds TWEAK and is implicated in angiogenesis JOURNAL Immunity 15 (5), 837-846 (2001) PUBMED 11728344 REFERENCE 9 (residues 1 to 94) AUTHORS Feng SL, Guo Y, Factor VM, Thorgeirsson SS, Bell DW, Testa JR, Peifley KA and Winkles JA. TITLE The Fn14 immediate-early response gene is induced during liver regeneration and highly expressed in both human and murine hepatocellular carcinomas JOURNAL Am J Pathol 156 (4), 1253-1261 (2000) PUBMED 10751351 REFERENCE 10 (residues 1 to 94) AUTHORS Meighan-Mantha RL, Hsu DK, Guo Y, Brown SA, Feng SL, Peifley KA, Alberts GF, Copeland NG, Gilbert DJ, Jenkins NA, Richards CM and Winkles JA. TITLE The mitogen-inducible Fn14 gene encodes a type I transmembrane protein that modulates fibroblast adhesion and migration JOURNAL J Biol Chem 274 (46), 33166-33176 (1999) PUBMED 10551889 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK160136.1, DV655788.1 and AI853177.1. Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DV655788.1, AV453919.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN02415127 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..94 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 11.99 cM" Protein 1..94 /product="tumor necrosis factor receptor superfamily member 12A isoform 2 precursor" /note="tweak-receptor; FGF-inducible 14; fibroblast growth factor-regulated protein 2; fibroblast growth factor-inducible immediate-early response protein 14; type I transmembrane protein Fn14" /calculated_mol_wt=7225 Region 1..94 /region_name="TNFRSF" /note="Tumor necrosis factor receptor superfamily (TNFRSF); cl22855" /db_xref="CDD:451430" sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2826 CDS 1..94 /gene="Tnfrsf12a" /gene_synonym="Fn14; HPIP; TWEAK-R; TweakR" /coded_by="NM_001161746.1:30..314" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS50011.1" /db_xref="GeneID:27279" /db_xref="MGI:MGI:1351484" ORIGIN 1 masawprslp qilvlgfglv lmraaageqa pgaaappahf rllwpilgga lslvlvlalv 61 ssflvwrrcr rrekfttpie etggegcpgv aliq // LOCUS NP_064430 395 aa linear ROD 09-OCT-2023 DEFINITION dihydroorotate dehydrogenase (quinone), mitochondrial precursor [Mus musculus]. ACCESSION NP_064430 VERSION NP_064430.1 DBSOURCE REFSEQ: accession NM_020046.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 395) AUTHORS Yang T, Shi X, Li S, Zhao Z, Wang J, Yu P, Li H, Wang R and Chen Z. TITLE Targeting DHODH reveals therapeutic opportunities in ATRA-resistant acute promyelocytic leukemia JOURNAL Biomed Pharmacother 166, 115314 (2023) PUBMED 37579695 REMARK GeneRIF: Targeting DHODH reveals therapeutic opportunities in ATRA-resistant acute promyelocytic leukemia. REFERENCE 2 (residues 1 to 395) AUTHORS Tu HF, Ko CJ, Lee CT, Lee CF, Lan SW, Lin HH, Lin HY, Ku CC, Lee DY, Chen IC, Chuang YH, Del Cano-Ochoa F, Ramon-Maiques S, Ho CC, Lee MS and Chang GD. TITLE Afatinib Exerts Immunomodulatory Effects by Targeting the Pyrimidine Biosynthesis Enzyme CAD JOURNAL Cancer Res 81 (12), 3270-3282 (2021) PUBMED 33771897 REFERENCE 3 (residues 1 to 395) AUTHORS Styr B, Gonen N, Zarhin D, Ruggiero A, Atsmon R, Gazit N, Braun G, Frere S, Vertkin I, Shapira I, Harel M, Heim LR, Katsenelson M, Rechnitz O, Fadila S, Derdikman D, Rubinstein M, Geiger T, Ruppin E and Slutsky I. TITLE Mitochondrial Regulation of the Hippocampal Firing Rate Set Point and Seizure Susceptibility JOURNAL Neuron 102 (5), 1009-1024 (2019) PUBMED 31047779 REMARK GeneRIF: Knockdown of Dhodh reduced hippocampus mean firing rate. REFERENCE 4 (residues 1 to 395) AUTHORS Zurkirchen L, Varum S, Giger S, Klug A, Hausel J, Bossart R, Zemke M, Cantu C, Atak ZK, Zamboni N, Basler K and Sommer L. TITLE Yin Yang 1 sustains biosynthetic demands during brain development in a stage-specific manner JOURNAL Nat Commun 10 (1), 2192 (2019) PUBMED 31097699 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 395) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 395) AUTHORS Mootha VK, Bunkenborg J, Olsen JV, Hjerrild M, Wisniewski JR, Stahl E, Bolouri MS, Ray HN, Sihag S, Kamal M, Patterson N, Lander ES and Mann M. TITLE Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria JOURNAL Cell 115 (5), 629-640 (2003) PUBMED 14651853 REFERENCE 7 (residues 1 to 395) AUTHORS Thomson TA, Spinella-Jaegle S, Francesconi E, Meakin C, Millet S, Flao KL, Hidden H and Ruuth E. TITLE In vitro and in Vivo inhibition of immunoglobulin secretion by the immunosuppressive compound HR325 is reversed by exogenous uridine JOURNAL Scand J Immunol 56 (1), 35-42 (2002) PUBMED 12100469 REMARK GeneRIF: immunosuppressive agent HR325 (an inhibitor of dihydroorotate dehydrogenase, DHODH) inhibits immunoglobulin (Ig) secretion both in vitro and in vivo and that this effect can be reverse with exogenous uridine REFERENCE 8 (residues 1 to 395) AUTHORS Ullrich A, Knecht W, Fries M and Loffler M. TITLE Recombinant expression of N-terminal truncated mutants of the membrane bound mouse, rat and human flavoenzyme dihydroorotate dehydrogenase. A versatile tool to rate inhibitor effects? JOURNAL Eur J Biochem 268 (6), 1861-1868 (2001) PUBMED 11248707 REFERENCE 9 (residues 1 to 395) AUTHORS Knecht W, Henseling J and Loffler M. TITLE Kinetics of inhibition of human and rat dihydroorotate dehydrogenase by atovaquone, lawsone derivatives, brequinar sodium and polyporic acid JOURNAL Chem Biol Interact 124 (1), 61-76 (2000) PUBMED 10658902 REFERENCE 10 (residues 1 to 395) AUTHORS Loffler,M. TITLE On the role of dihydroorotate dehydrogenase in growth cessation of Ehrlich ascites tumor cells cultured under oxygen deficiency JOURNAL Eur J Biochem 107 (1), 207-215 (1980) PUBMED 6249586 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC125162.4 and BC045206.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC045206.1, AF029667.2 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..395 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="8" /map="8 57.12 cM" Protein 1..395 /product="dihydroorotate dehydrogenase (quinone), mitochondrial precursor" /EC_number="1.3.5.2" /note="dihydroorotate dehydrogenase, mitochondrial; dihydroorotate dehydrogenase (quinone), mitochondrial; DHOdehase; dihydroorotate oxidase" /calculated_mol_wt=41403 transit_peptide 1..10 /note="Mitochondrion, not cleaved. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O35435.2)" /calculated_mol_wt=1316 Site 11..30 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O35435.2)" Region 43..373 /region_name="DHOD_2_like" /note="Dihydroorotate dehydrogenase (DHOD) class 2. DHOD catalyzes the oxidation of (S)-dihydroorotate to orotate. This is the fourth step and the only redox reaction in the de novo biosynthesis of UMP, the precursor of all pyrimidine nucleotides. DHOD requires...; cd04738" /db_xref="CDD:240089" Site order(55,135) /site_type="other" /note="quinone interaction residues [chemical binding]" /db_xref="CDD:240089" Site order(95,99,119,144,146..148,211,214,216,254,282..284,305, 334,355..356) /site_type="active" /db_xref="CDD:240089" Site order(99,214,254) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:240089" Site order(119,144,211,254,282..283,305,334,355..356) /site_type="other" /note="FMN binding site [chemical binding]" /db_xref="CDD:240089" Site order(144,211,213,283..284) /site_type="other" /note="substrate binding site [chemical binding]" /db_xref="CDD:240089" CDS 1..395 /gene="Dhodh" /gene_synonym="2810417D19Rik" /coded_by="NM_020046.3:302..1489" /db_xref="CCDS:CCDS40471.1" /db_xref="GeneID:56749" /db_xref="MGI:MGI:1928378" ORIGIN 1 mawrqlrkra ldaaiilggg gllftsylta tgddhfyaey lmpalqrlld pesahrlavr 61 vislgllpra tfqdsnmlev rvlghkfrnp vgiaagfdkh geavdglykl gfgfvevgsv 121 tpqpqegnpr prvfrlpedq avinrygfns hglsavehrl rarqqkqtql ttdglplgin 181 lgknktsvda aadyvegvri lgpladylvv nvsspntagl rslqgktelr rllskvlqer 241 dalkgpqkpa vlvkiapdlt aqdkediasv arelgidgli itnttvsrpv glqgalrset 301 gglsgkplrd lstqtiremy altqgtipii gvggvssgqd alekiqagas lvqlytaltf 361 lgppvvarvk releallker gfntvtdaig vdhrr // LOCUS NP_001129537 1161 aa linear ROD 09-OCT-2023 DEFINITION homeodomain-interacting protein kinase 2 isoform 1 [Mus musculus]. ACCESSION NP_001129537 VERSION NP_001129537.1 DBSOURCE REFSEQ: accession NM_001136065.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1161) AUTHORS Wang G, Ma Z, Song C, Wang X and Zhou Z. TITLE miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis JOURNAL Cell Signal 111, 110840 (2023) PUBMED 37543099 REMARK GeneRIF: miR-147b is an oncomiR acting synergistically with HIPK2 to promote pancreatic carcinogenesis. REFERENCE 2 (residues 1 to 1161) AUTHORS Zhong W, Hong C, Dong Y, Li Y, Xiao C and Liu X. TITLE ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells JOURNAL Genes (Basel) 13 (12), 2244 (2022) PUBMED 36553510 REMARK GeneRIF: ASH2L Aggravates Fibrosis and Inflammation through HIPK2 in High Glucose-Induced Glomerular Mesangial Cells. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1161) AUTHORS Zhou Q, Meng D, Li F, Zhang X, Liu L, Zhu Y, Liu S, Xu M, Deng J, Lei Z, Sluijter JPG and Xiao J. TITLE Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling JOURNAL EBioMedicine 85, 104274 (2022) PUBMED 36182775 REMARK GeneRIF: Inhibition of HIPK2 protects stress-induced pathological cardiac remodeling. REFERENCE 4 (residues 1 to 1161) AUTHORS Cheung KL, Jaganathan A, Hu Y, Xu F, Lejeune A, Sharma R, Caescu CI, Meslamani J, Vincek A, Zhang F, Lee K, Zaware N, Qayum AA, Ren C, Kaplan MH, He JC, Xiong H and Zhou MM. TITLE HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation JOURNAL Proc Natl Acad Sci U S A 119 (14), e2117112119 (2022) PUBMED 35344430 REMARK GeneRIF: HIPK2 directs cell type-specific regulation of STAT3 transcriptional activity in Th17 cell differentiation. REFERENCE 5 (residues 1 to 1161) AUTHORS Yu Q, Liu L, Zhang X, Chang H, Ma S, Xie Z, Tang S, Ju X, Zhu H, Shen B and Zhang Q. TITLE MiR-221-3p targets HIPK2 to promote diabetic wound healing JOURNAL Microvasc Res 140, 104306 (2022) PUBMED 34973299 REMARK GeneRIF: MiR-221-3p targets HIPK2 to promote diabetic wound healing. REFERENCE 6 (residues 1 to 1161) AUTHORS Hofmann TG, Mincheva A, Lichter P, Droge W and Schmitz ML. TITLE Human homeodomain-interacting protein kinase-2 (HIPK2) is a member of the DYRK family of protein kinases and maps to chromosome 7q32-q34 JOURNAL Biochimie 82 (12), 1123-1127 (2000) PUBMED 11120354 REFERENCE 7 (residues 1 to 1161) AUTHORS Wang W, Link V and Green JM. TITLE Identification and cloning of a CD43-associated serine/threonine kinase JOURNAL Cell Immunol 205 (1), 34-39 (2000) PUBMED 11078605 REFERENCE 8 (residues 1 to 1161) AUTHORS Ebling FJ, Brooks AN, Cronin AS, Ford H and Kerr JB. TITLE Estrogenic induction of spermatogenesis in the hypogonadal mouse JOURNAL Endocrinology 141 (8), 2861-2869 (2000) PUBMED 10919273 REFERENCE 9 (residues 1 to 1161) AUTHORS Kim YH, Choi CY and Kim Y. TITLE Covalent modification of the homeodomain-interacting protein kinase 2 (HIPK2) by the ubiquitin-like protein SUMO-1 JOURNAL Proc Natl Acad Sci U S A 96 (22), 12350-12355 (1999) PUBMED 10535925 REFERENCE 10 (residues 1 to 1161) AUTHORS Kim YH, Choi CY, Lee SJ, Conti MA and Kim Y. TITLE Homeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factors JOURNAL J Biol Chem 273 (40), 25875-25879 (1998) PUBMED 9748262 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK016742.1, AF208292.1 and BM122543.2. Transcript Variant: This variant (1) has multiple differences compared to variant 2. These differences result in a distinct 5' UTR, and cause translation initiation at a downstream start codon, compared to variant 2. The encoded isoform (1) is shorter than isoform 2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF208292.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1161 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 17.85 cM" Protein 1..1161 /product="homeodomain-interacting protein kinase 2 isoform 1" /EC_number="2.7.11.1" /note="nuclear body-associated kinase 1; sialophorin tail-associated nuclear serine/threonine-protein kinase" /calculated_mol_wt=126670 Region 176..530 /region_name="STKc_HIPK2" /note="Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 2; cd14227" /db_xref="CDD:271129" Site order(198..202,206,219,221,235,254,270..273,276,278..279, 317,319,321..322,324,339,342,352,354..357,359,396) /site_type="active" /db_xref="CDD:271129" Site order(198..202,206,219,221,254,270..273,276,317,319, 321..322,324,339) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271129" Site order(235,278,317,319,342,352,354..357,359,396) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271129" Site 338..359 /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271129" CDS 1..1161 /gene="Hipk2" /gene_synonym="1110014O20Rik; B230339E18Rik; Stank" /coded_by="NM_001136065.2:319..3804" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS51752.1" /db_xref="GeneID:15258" /db_xref="MGI:MGI:1314872" ORIGIN 1 mashvqvfsp htlqssafcs vkklkvepss nwdmtgygsh skvysqskni ppsqpasttv 61 stslpipnps lpyeqtiifp gstghivvts asstsvtgqv lggphnlmrr stvslldtyq 121 kcglkrksee ientssvqii eehppmiqnn asgatvatat tstatsknsg snsegdyqlv 181 qhevlcsmtn tyevleflgr gtfgqvvkcw krgtneivai kilknhpsya rqgqievsil 241 arlstesadd ynfvrayecf qhknhtclvf emleqnlydf lkqnkfsplp lkyirpvlqq 301 vatalmklks lglihadlkp enimlvdpsr qpyrvkvidf gsashvskav cstylqsryy 361 rapeiilglp fceaidmwsl gcviaelflg wplypgasey dqiryisqtq glpaeyllsa 421 gtkttrffnr dtdspyplwr lktpddheae tgikskeark yifnclddma qvnmttdleg 481 sdmlvekadr refidllkkm ltidadkrvt pietlnhpfv tmthlldfph sahvkscfqn 541 meickrrvnm ydtvnqsktp fithvapsts tnltmtfnnq lttvhnqpsa asmaavaprs 601 mplqtgtaqi carpdpfqqa livcppgfqg lqaspskhag ysvrmenavp ivtqapgaqp 661 lqiqpgllaq awpggaqqil lppawqqltg vathtsvqha avipetmagt qqladwrnth 721 ahgshynpim qqpalltghv tlpaaqplnv gvahvmrqqp tsttssrksk qhqssvrnvs 781 tcevtssqai sspqrskrvk entpprcamv hsspacstsv tcgwgdvass ttrerqrqti 841 vipdtpsptv svitissdtd eeeeqkhapt stvskqrknv iscvtvhdsp ysdsssntsp 901 ysvqqrtghn gtntldtkgg lenhctgnpr tiivpplktq asevlvecds lgpaisashh 961 sssfksksss tvtstsghss gsssgaiayr qqrpgphfqq qqplnlsqaq qhmaadrtgs 1021 hrrqqayitp tmaqapytfp hnspshgtvh phlaaaahlp tqphlytyta ptalgstgtv 1081 ahlvasqgsa rhtvqhtayp asivhqvpvs mgprvlpspt ihpsqypaqf ahqtyisasp 1141 astvytgypl spakvnqypy i // LOCUS NP_666108 532 aa linear ROD 09-OCT-2023 DEFINITION AT-rich interactive domain-containing protein 5A isoform 3 [Mus musculus]. ACCESSION NP_666108 VERSION NP_666108.2 DBSOURCE REFSEQ: accession NM_145996.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 532) AUTHORS Li X, Hua S, Fang D, Fei X, Tan Z, Zheng F, Wang W and Fang M. TITLE RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice JOURNAL Clin Exp Med 23 (6), 2167-2179 (2023) PUBMED 36454447 REMARK GeneRIF: RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice. REFERENCE 2 (residues 1 to 532) AUTHORS Taylor TC, Li Y, Li DD, Majumder S, McGeachy MJ, Biswas PS, Gingras S and Gaffen SL. TITLE Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense JOURNAL J Immunol 209 (6), 1138-1145 (2022) PUBMED 35940634 REMARK GeneRIF: Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense. REFERENCE 3 (residues 1 to 532) AUTHORS Catela C, Chen Y, Weng Y, Wen K and Kratsios P. TITLE Control of spinal motor neuron terminal differentiation through sustained Hoxc8 gene activity JOURNAL Elife 11, e70766 (2022) PUBMED 35315772 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 532) AUTHORS Nyati KK, Hashimoto S, Singh SK, Tekguc M, Metwally H, Liu YC, Okuzaki D, Gemechu Y, Kang S and Kishimoto T. TITLE The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway JOURNAL Cancer Lett 520, 295-306 (2021) PUBMED 34389433 REMARK GeneRIF: The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway. REFERENCE 5 (residues 1 to 532) AUTHORS Chalise JP, Hashimoto S, Parajuli G, Kang S, Singh SK, Gemechu Y, Metwally H, Nyati KK, Dubey PK, Zaman MM, Nagahama Y, Hamza H, Masuda K and Kishimoto T. TITLE Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis JOURNAL Proc Natl Acad Sci U S A 116 (30), 15128-15133 (2019) PUBMED 31289228 REMARK GeneRIF: Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis. REFERENCE 6 (residues 1 to 532) AUTHORS Zaman MM, Masuda K, Nyati KK, Dubey PK, Ripley B, Wang K, Chalise JP, Higa M, Hanieh H and Kishimoto T. TITLE Arid5a exacerbates IFN-gamma-mediated septic shock by stabilizing T-bet mRNA JOURNAL Proc Natl Acad Sci U S A 113 (41), 11543-11548 (2016) PUBMED 27671645 REMARK GeneRIF: Arid5a deficiency resulted in decreased levels of IFN-gamma under Th1 cell conditions, in which T-box expressed in T cells (T-bet) mRNA expression was inhibited. REFERENCE 7 (residues 1 to 532) AUTHORS Masuda K, Ripley B, Nyati KK, Dubey PK, Zaman MM, Hanieh H, Higa M, Yamashita K, Standley DM, Mashima T, Katahira M, Okamoto T, Matsuura Y, Takeuchi O and Kishimoto T. TITLE Arid5a regulates naive CD4+ T cell fate through selective stabilization of Stat3 mRNA JOURNAL J Exp Med 213 (4), 605-619 (2016) PUBMED 27022145 REMARK GeneRIF: T cell-intrinsic role of Arid5a on fate decisions of naive CD4(+)T cells through selective stabilization of Stat3 mRNA. REFERENCE 8 (residues 1 to 532) AUTHORS Masuda K, Ripley B, Nishimura R, Mino T, Takeuchi O, Shioi G, Kiyonari H and Kishimoto T. TITLE Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo JOURNAL Proc Natl Acad Sci U S A 110 (23), 9409-9414 (2013) PUBMED 23676272 REMARK GeneRIF: Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo. REFERENCE 9 (residues 1 to 532) AUTHORS Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R and Yoneda T. TITLE Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription JOURNAL Mol Biol Cell 22 (8), 1300-1311 (2011) PUBMED 21346191 REMARK GeneRIF: AT-rich interactive domain-containing protein 5a (Arid5a) cooperates with Sox9 to stimulate chondrocyte-specific transcription. REFERENCE 10 (residues 1 to 532) AUTHORS Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E. TITLE Nomenclature of the ARID family of DNA-binding proteins JOURNAL Genomics 86 (2), 242-251 (2005) PUBMED 15922553 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY196834.1, AK085015.1 and AK029237.1. On Jun 9, 2003 this sequence version replaced NP_666108.1. Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK029237.1, AK085015.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..532 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 15.2 cM" Protein 1..532 /product="AT-rich interactive domain-containing protein 5A isoform 3" /note="AT rich interactive domain 5A (Mrf1 like); modulator recognition factor I; AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like)" /calculated_mol_wt=56993 Region <42..80 /region_name="ARID" /note="ARID/BRIGHT DNA binding domain family; cl28902" /db_xref="CDD:355778" CDS 1..532 /gene="Arid5a" /gene_synonym="D430024K22Rik; Mrf1" /coded_by="NM_145996.4:101..1699" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS14876.1" /db_xref="GeneID:214855" /db_xref="MGI:MGI:2443039" ORIGIN 1 maappakgnt eqseegdlpq lpvspkpdde qsrsqsptql qvtgrrlwkn vydelggspg 61 stsaatctrr hyerlvlpyv rhlkgeddkp lpptkprkqy kmakelrgdd gtteklkkak 121 dseerrveqt tpgktksdat gqtqlpcqgs srdsteqlgp vsgpsppltg asscpeaykr 181 llssfyckga hgimsplakk kllaqvskae alqcqeegcr hgarspnkdi qdspqnlrgp 241 aensehqltp reglqapggs trmeaqvgpc ptapmfsgcf hayptevlkp vsqhprdffs 301 glkdrvllgp pgkeegpttk eshlvwggda nhpsafhkgs trkrsfypkp kacwvspmak 361 vpterpgaps phpsspglgs krgleeegfa hggkklravs pflkevdske tggkpaapgl 421 avscllgptp gptppeayrg tmlrcplnft gsadplkgqa slpfsplvip afpahllatt 481 gsspmaaslm hfpptpydav lrnrlgpass awhmppvtty aaphffhlnt kl // LOCUS NP_001263340 2271 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform e precursor [Mus musculus]. ACCESSION NP_001263340 VERSION NP_001263340.1 DBSOURCE REFSEQ: accession NM_001276411.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2271) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2271) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2271) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2271) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2271) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2271) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2271) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2271) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2271) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2271) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, BC138421.1, AK147663.1 and AC124821.5. Transcript Variant: This variant (5) lacks two in-frame exons and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK147663.1, BC138421.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2271 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2271 /product="fibronectin isoform e precursor" /calculated_mol_wt=247519 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1709..1710,1712..1713) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1724..1803 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1800..1801,1803..1804) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1813..1893 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 2004..2059 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2090..2134 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2135..2176 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2178..2217 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2271 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276411.1:253..7068" /note="isoform e precursor is encoded by transcript variant 5" /db_xref="CCDS:CCDS78608.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtt ipaptnlkfs qvtptsftaq wiapsvqltg yrvrvnpkek tgpmkeinls 1681 pdsssvivsg lmvatkyevs vyalkdtlts rpaqgvittl envspprrar vtdatettit 1741 iswrtkteti tgfqvdaipa ngqtpvqrsi spdvrsytit glqpgtdyki hlytlndnar 1801 sspviidast aidapsnlrf ltttpnsllv swqaprarit gyiikyekpg spprevvprp 1861 rpgvteatit glepgteyti yvialknnqk sepligrkkt vqktpfitnp gydtengiql 1921 pgtthqqpsv gqqmifeehg frrttpptaa tpvrlrprpy lpnvdeevqi ghvprgdvdy 1981 hlyphvpgln pnastgqeal sqttiswtpf qesseyiisc qpvgtdeepl qfqvpgtsts 2041 atltgltrgv tyniivealq nqrrhkvree vvtvgnavse glnqptddsc fdpytvshya 2101 igeewerlsd agfkltcqcl gfgsghfrcd sskwchdngv nykigekwdr qgengqrmsc 2161 tclgngkgef kcdpheatcy ddgktyhvge qwqkeylgai csctcfggqr gwrcdncrrp 2221 gaaepspdgt tghtynqytq rynqrtntnv ncpiecfmpl dvqadrddsr e // LOCUS NP_997121 279 aa linear ROD 09-OCT-2023 DEFINITION F-box only protein 27 isoform 2 [Mus musculus]. ACCESSION NP_997121 XP_133309 VERSION NP_997121.1 DBSOURCE REFSEQ: accession NM_207238.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 279) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 279) AUTHORS Jin,J., Cardozo,T., Lovering,R.C., Elledge,S.J., Pagano,M. and Harper,J.W. TITLE Systematic analysis and nomenclature of mammalian F-box proteins JOURNAL Genes Dev 18 (21), 2573-2580 (2004) PUBMED 15520277 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK053292.1 and BQ033399.1. On Aug 30, 2004 this sequence version replaced XP_133309.4. Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK053292.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849389 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..279 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 16.89 cM" Protein 1..279 /product="F-box only protein 27 isoform 2" /note="F-box only protein 27" /calculated_mol_wt=31372 Region <37..70 /region_name="F-box_SF" /note="F-box domain superfamily; cl45894" /db_xref="CDD:459239" Region 102..274 /region_name="FBA" /note="F-box associated region; pfam04300" /db_xref="CDD:427850" CDS 1..279 /gene="Fbxo27" /gene_synonym="E130008B10Rik; FBG5; Gm161" /coded_by="NM_207238.3:151..990" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS21051.1" /db_xref="GeneID:233040" /db_xref="MGI:MGI:2685007" ORIGIN 1 mgawisrtrv ptpepdpqev ldlsrlppel lllvlshvpp rtllmhcrrv crawralvdg 61 qalwllllar dhsaagrall tlarrclppa hedtpcplgq fcalrplgrn lisnpcgqgl 121 rkwmvrhggd gwvveknrkp vpgapsqtcf vtsfswcrkk qvvdlvekgl wpelldsggv 181 eiavsdwwga rhdsgckyrl fvtlldahqn vidkfsavpd pieqwnndiy lqvthvfsgi 241 rrgirfvsfe hwgqdtqfwa ghygarvtns sviirvcqs // LOCUS NP_201582 776 aa linear ROD 09-OCT-2023 DEFINITION lysyl oxidase homolog 2 precursor [Mus musculus]. ACCESSION NP_201582 XP_919062 VERSION NP_201582.2 DBSOURCE REFSEQ: accession NM_033325.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 776) AUTHORS Lu YJ, Deng YT, Ko HH, Peng HH, Lee HC, Kuo MY and Cheng SJ. TITLE Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3 JOURNAL Cancer Sci 114 (10), 3957-3971 (2023) PUBMED 37496288 REMARK GeneRIF: Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3. REFERENCE 2 (residues 1 to 776) AUTHORS Lu X, Xin DE, Du JK, Zou QC, Wu Q, Zhang YS, Deng W, Yue J, Fan XS, Zeng Y, Cheng X, Li X, Hou Z, Mohan M, Zhao TC, Lu X, Chang Z, Xu L, Sun Y, Zu X, Zhang Y and Chinn YE. TITLE Loss of LOXL2 Promotes Uterine Hypertrophy and Tumor Progression by Enhancing H3K36ac-Dependent Gene Expression JOURNAL Cancer Res 82 (23), 4400-4413 (2022) PUBMED 36197797 REMARK GeneRIF: Loss of LOXL2 Promotes Uterine Hypertrophy and Tumor Progression by Enhancing H3K36ac-Dependent Gene Expression. REFERENCE 3 (residues 1 to 776) AUTHORS Santamaria PG, Dubus P, Bustos-Tauler J, Floristan A, Vazquez-Naharro A, Morales S, Cano A and Portillo F. TITLE Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development JOURNAL Int J Mol Sci 23 (10), 5730 (2022) PUBMED 35628534 REMARK GeneRIF: Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development. Publication Status: Online-Only REFERENCE 4 (residues 1 to 776) AUTHORS Wang H, Poe A, Pak L, Nandakumar K, Jandu S, Steppan J, Loser R and Santhanam L. TITLE An in situ activity assay for lysyl oxidases JOURNAL Commun Biol 4 (1), 840 (2021) PUBMED 34226627 REMARK GeneRIF: An in situ activity assay for lysyl oxidases. Erratum:[Commun Biol. 2021 Sep 16;4(1):1110. PMID: 34531545] Publication Status: Online-Only REFERENCE 5 (residues 1 to 776) AUTHORS Matsuo A, Tanida R, Yanagi S, Tsubouchi H, Miura A, Shigekusa T, Matsumoto N and Nakazato M. TITLE Significance of nuclear LOXL2 inhibition in fibroblasts and myofibroblasts in the fibrotic process of acute respiratory distress syndrome JOURNAL Eur J Pharmacol 892, 173754 (2021) PUBMED 33248114 REMARK GeneRIF: Significance of nuclear LOXL2 inhibition in fibroblasts and myofibroblasts in the fibrotic process of acute respiratory distress syndrome. REFERENCE 6 (residues 1 to 776) AUTHORS Pischon N, Maki JM, Weisshaupt P, Heng N, Palamakumbura AH, N'Guessan P, Ding A, Radlanski R, Renz H, Bronckers TA, Myllyharju J, Kielbassa AM, Kleber BM, Bernimoulin JP and Trackman PC. TITLE Lysyl oxidase (lox) gene deficiency affects osteoblastic phenotype JOURNAL Calcif Tissue Int 85 (2), 119-126 (2009) PUBMED 19458888 REFERENCE 7 (residues 1 to 776) AUTHORS Hoffman BG, Zavaglia B, Witzsche J, Ruiz de Algara T, Beach M, Hoodless PA, Jones SJ, Marra MA and Helgason CD. TITLE Identification of transcripts with enriched expression in the developing and adult pancreas JOURNAL Genome Biol 9 (6), R99 (2008) PUBMED 18554416 REFERENCE 8 (residues 1 to 776) AUTHORS Atsawasuwan P, Mochida Y, Parisuthiman D and Yamauchi M. TITLE Expression of lysyl oxidase isoforms in MC3T3-E1 osteoblastic cells JOURNAL Biochem Biophys Res Commun 327 (4), 1042-1046 (2005) PUBMED 15652501 REMARK GeneRIF: LoxL2 is not expressed in MC3T3-E1 cells. REFERENCE 9 (residues 1 to 776) AUTHORS Jourdan-Le Saux C, Le Saux O, Gleyzal C, Sommer P and Csiszar K. TITLE The mouse lysyl oxidase-like 2 gene (mLOXL2) maps to chromosome 14 and is highly expressed in skin, lung and thymus JOURNAL Matrix Biol 19 (2), 179-183 (2000) PUBMED 10842102 REFERENCE 10 (residues 1 to 776) AUTHORS Jang W, Hua A, Spilson SV, Miller W, Roe BA and Meisler MH. TITLE Comparative sequence of human and mouse BAC clones from the mnd2 region of chromosome 2p13 JOURNAL Genome Res 9 (1), 53-61 (1999) PUBMED 9927484 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC160639.2, AK045019.1, AK159386.1 and AA437829.1. On Mar 24, 2009 this sequence version replaced NP_201582.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK045019.1, SRR17253012.797844.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..776 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="14" /map="14 36.06 cM" Protein 1..776 /product="lysyl oxidase homolog 2 precursor" /EC_number="1.4.3.13" /note="lysyl oxidase homolog 2; lysyl oxidase-like protein 2" /calculated_mol_wt=84433 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2588 Region 61..162 /region_name="SR" /note="Scavenger receptor Cys-rich; smart00202" /db_xref="CDD:214555" Region 204..304 /region_name="SR" /note="Scavenger receptor Cys-rich; smart00202" /db_xref="CDD:214555" Site 267 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58022.2)" Site 291 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58022.2)" Region 329..428 /region_name="SR" /note="Scavenger receptor Cys-rich; smart00202" /db_xref="CDD:214555" Region 438..546 /region_name="SR" /note="Scavenger receptor Cys-rich; smart00202" /db_xref="CDD:214555" Site 458 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58022.2)" Region 550..753 /region_name="Lysyl-oxidase like. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P58022.2)" Region 550..748 /region_name="Lysyl_oxidase" /note="Lysyl oxidase; pfam01186" /db_xref="CDD:426108" Site 646 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58022.2)" CDS 1..776 /gene="Loxl2" /gene_synonym="1110004B06Rik; 4930526G11Rik; 9430067E15Rik" /coded_by="NM_033325.2:135..2465" /db_xref="CCDS:CCDS27241.1" /db_xref="GeneID:94352" /db_xref="MGI:MGI:2137913" ORIGIN 1 melhfgscls gclallvllp slslaqyegw pyqlqypeyf qqpapehhqr qvpsdvvkiq 61 vrlagqkrkh negrvevyye gqwgtvcddd fsihaahvvc rqvgyveaks waasssygpg 121 egpiwldniy ctgkestlas cssngwgvtd ckhtedvgvv csekripgfk fdnslinqie 181 slniqvedir irpilsafrh rkpvtegyve vkegkawkqi cnkhwtakns hvvcgmfgfp 241 aektynpkay ktfasrrklr ywkfsmnctg teahissckl gpsvtrdpvk natcengqpa 301 vvscvpsqif spdgpsrfrk aykpeqplvr lrggaqvgeg rvevlkngew gticddkwdl 361 vsasvvcrel gfgtakeait gsrlgqgigp ihlnevqctg teksiidckf ntesqgcnhe 421 edagvrcnip imgfqkkvrl nggrnpyegr vevlterngs lvwgtvcgqn wgiveamvvc 481 rqlglgfasn afqetwywhg nifannvvms gvkcsgtels lahcrhdeev acpeggvrfg 541 agvacsetap dlvlnaeivq qtayledrpm sllqcameen clsasavhtd ptrghrrllr 601 fssqihnngq sdfrpkngrh awiwhdchrh yhsmevftyy dllslngtkv aeghkasfcl 661 edtecegdiq ksyecanfge qgitmgcwdm yrhdidcqwi ditdvppgdy lfqvvinpny 721 evpesdfsnn imkcrsrydg yriwmynchv ggafseeteq kfehfsglln nqlsvq // LOCUS NP_001349237 494 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 30 [Mus musculus]. ACCESSION NP_001349237 XP_017173283 VERSION NP_001349237.1 DBSOURCE REFSEQ: accession NM_001362308.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 494) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 494) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 494) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 494) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 494) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 494) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 494) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 494) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 494) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 494) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173283.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.170366.1, SRR1660819.44819.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..494 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..494 /product="CUGBP Elav-like family member 4 isoform 30" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=52771 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..483 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..494 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362308.1:531..2015" /note="isoform 30 is encoded by transcript variant 34" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgnvisskv fvdratnqsk cfgfvsfdnp asaqtaiqam ngfqigmkrl 481 kvqlkrpkda nrpy // LOCUS NP_001074812 481 aa linear ROD 09-OCT-2023 DEFINITION guanine nucleotide exchange factor C9orf72 homolog isoform 1 [Mus musculus]. ACCESSION NP_001074812 XP_901191 VERSION NP_001074812.1 DBSOURCE REFSEQ: accession NM_001081343.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 481) AUTHORS Hendricks E, Quihuis AM, Hung ST, Chang J, Dorjsuren N, Der B, Staats KA, Shi Y, Sta Maria NS, Jacobs RE and Ichida JK. TITLE The C9ORF72 repeat expansion alters neurodevelopment JOURNAL Cell Rep 42 (8), 112983 (2023) PUBMED 37590144 REMARK GeneRIF: The C9ORF72 repeat expansion alters neurodevelopment. REFERENCE 2 (residues 1 to 481) AUTHORS Pang W and Hu F. TITLE C9ORF72 suppresses JAK-STAT mediated inflammation JOURNAL iScience 26 (5), 106579 (2023) PUBMED 37250330 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 481) AUTHORS He L, Liang J, Chen C, Chen J, Shen Y, Sun S and Li L. TITLE C9orf72 functions in the nucleus to regulate DNA damage repair JOURNAL Cell Death Differ 30 (3), 716-730 (2023) PUBMED 36220889 REMARK GeneRIF: C9orf72 functions in the nucleus to regulate DNA damage repair. REFERENCE 4 (residues 1 to 481) AUTHORS Shu X, Wei C, Tu WY, Zhong K, Qi S, Wang A, Bai L, Zhang SX, Luo B, Xu ZZ, Zhang K and Shen C. TITLE Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome JOURNAL Cell Rep 42 (2), 112133 (2023) PUBMED 36800288 REMARK GeneRIF: Negative regulation of TREM2-mediated C9orf72 poly-GA clearance by the NLRP3 inflammasome. REFERENCE 5 (residues 1 to 481) AUTHORS Liu Y, Xing H, Ernst AF, Liu C, Maugee C, Yokoi F, Lakshmana M and Li Y. TITLE Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice JOURNAL Mol Cell Neurosci 121, 103756 (2022) PUBMED 35843530 REMARK GeneRIF: Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice. REFERENCE 6 (residues 1 to 481) AUTHORS Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD and Petrucelli L. TITLE Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits JOURNAL Science 348 (6239), 1151-1154 (2015) PUBMED 25977373 REFERENCE 7 (residues 1 to 481) AUTHORS Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE and Atkin JD. TITLE C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking JOURNAL Hum Mol Genet 23 (13), 3579-3595 (2014) PUBMED 24549040 REMARK Erratum:[Hum Mol Genet. 2017 Oct 15;26(20):4093-4094. PMID: 28973528] REFERENCE 8 (residues 1 to 481) AUTHORS Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R, Davis-Dusenbery BN and Eggan K. TITLE The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD JOURNAL Nat Neurosci 16 (12), 1725-1727 (2013) PUBMED 24185425 REFERENCE 9 (residues 1 to 481) AUTHORS Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW and Ravits J. TITLE Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration JOURNAL Proc Natl Acad Sci U S A 110 (47), E4530-E4539 (2013) PUBMED 24170860 REFERENCE 10 (residues 1 to 481) AUTHORS Panda SK, Wefers B, Ortiz O, Floss T, Schmid B, Haass C, Wurst W and Kuhn R. TITLE Highly efficient targeted mutagenesis in mice using TALENs JOURNAL Genetics 195 (3), 703-713 (2013) PUBMED 23979585 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL831776.3. On Feb 6, 2007 this sequence version replaced XP_901191.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK154817.1, AK167354.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..481 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 17.13 cM" Protein 1..481 /product="guanine nucleotide exchange factor C9orf72 homolog isoform 1" /note="protein C9orf72 homolog; guanine nucleotide exchange C9orf72 homolog; guanine nucleotide exchange factor C9orf72 homolog" /calculated_mol_wt=54147 Region 61..324 /region_name="C9orf72-like" /note="C9orf72-like protein family; pfam15019" /db_xref="CDD:434396" Region 461..481 /region_name="Required for the homodimerization of the C9orf72-SMCR8 complex. /evidence=ECO:0000250|UniProtKB:Q96LT7" /note="propagated from UniProtKB/Swiss-Prot (Q6DFW0.2)" CDS 1..481 /gene="C9orf72" /gene_synonym="3110043O21Rik; Dennd9" /coded_by="NM_001081343.2:109..1554" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS38708.1" /db_xref="GeneID:73205" /db_xref="MGI:MGI:1920455" ORIGIN 1 msticpppsp avakteials gespllaatf aywdnilgpr vrhiwapktd qvllsdgeit 61 flanhtlnge ilrnaesgai dvkffvlsek gviivslifd gnwngdrsty glsiilpqte 121 lsfylplhrv cvdrlthiir kgriwmhker qenvqkivle gtermedqgq siipmltgev 181 ipvmellasm kshsvpedid iadtvlnddd igdschegfl lnaisshlqt cgcsvvvgss 241 aekvnkivrt lclfltpaer kcsrlceaes sfkyesglfv qgllkdatgs fvlpfrqvmy 301 apyptthidv dvntvkqmpp chehiynqrr ymrseltafw ratseedmaq dtiiytdesf 361 tpdlnifqdv lhrdtlvkaf ldqvfhlkpg lslrstflaq fllilhrkal tlikyieddt 421 qkgkkpfksl rnlkidldlt aegdlniima laekikpglh sfifgrpfyt svqerdvlmt 481 f // LOCUS NP_001167545 456 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 51 [Mus musculus]. ACCESSION NP_001167545 VERSION NP_001167545.1 DBSOURCE REFSEQ: accession NM_001174074.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 456) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 456) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 456) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 456) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 456) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 456) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 456) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 456) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 456) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 456) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8, BC052744.1, AK051458.1 and AC144938.3. Transcript Variant: This variant (6) encodes isoform (51, also known as F). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK051458.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..456 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..456 /product="CUGBP Elav-like family member 4 isoform 51" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=48424 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region <415..455 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..456 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001174074.2:531..1901" /note="isoform 51 is encoded by transcript variant 6" /db_xref="CCDS:CCDS89204.1" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregfvsfd 421 npasaqtaiq amngfqigmk rlkvqlkrpk danrpy // LOCUS NP_001277945 91 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 4 [Mus musculus]. ACCESSION NP_001277945 XP_006498681 VERSION NP_001277945.1 DBSOURCE REFSEQ: accession NM_001291016.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 91) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 91) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 91) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 91) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 91) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 91) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 91) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 91) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 91) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 91) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK037885.1 and AK162975.1. On Mar 21, 2014 this sequence version replaced XP_006498681.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK037885.1, BB631162.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849378 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..91 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..91 /product="bcl-2-like protein 11 isoform 4" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=9862 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" CDS 1..91 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001291016.1:229..504" /note="isoform 4 is encoded by transcript variant 5" /db_xref="CCDS:CCDS71141.1" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa mdqlenlnqv aqnihgdawy n // LOCUS NP_032603 526 aa linear ROD 09-OCT-2023 DEFINITION amino acid transporter heavy chain SLC3A2 isoform b [Mus musculus]. ACCESSION NP_032603 VERSION NP_032603.3 DBSOURCE REFSEQ: accession NM_008577.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 526) AUTHORS Xiang P, Chen Q, Chen L, Lei J, Yuan Z, Hu H, Lu Y, Wang X, Wang T, Yu R, Zhang W, Zhang J, Yu C and Ma L. TITLE Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE-/-mice JOURNAL Theranostics 13 (14), 4993-5016 (2023) PUBMED 37771765 REMARK GeneRIF: Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE[-/-]mice. Publication Status: Online-Only REFERENCE 2 (residues 1 to 526) AUTHORS Puris E, Saveleva L, de Sousa Maciel I, Kanninen KM, Auriola S and Fricker G. TITLE Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease JOURNAL Mol Neurobiol 60 (2), 732-748 (2023) PUBMED 36367657 REMARK GeneRIF: Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease. REFERENCE 3 (residues 1 to 526) AUTHORS Eom J, Choi J, Suh SS and Seo JB. TITLE SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation JOURNAL Mol Cells 45 (12), 963-975 (2022) PUBMED 36572564 REMARK GeneRIF: SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation. REFERENCE 4 (residues 1 to 526) AUTHORS Chen Q, Liu L and Ni S. TITLE Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation JOURNAL PeerJ 10, e13757 (2022) PUBMED 35923893 REMARK GeneRIF: Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 526) AUTHORS Salazar-Petres E, Pereira-Carvalho D, Lopez-Tello J and Sferruzzi-Perri AN. TITLE Placental structure, function, and mitochondrial phenotype relate to fetal size in each fetal sex in micedagger JOURNAL Biol Reprod 106 (6), 1292-1311 (2022) PUBMED 35293971 REFERENCE 6 (residues 1 to 526) AUTHORS Rochelle JM, Watson ML, Oakey RJ and Seldin MF. TITLE A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus JOURNAL Genomics 14 (1), 26-31 (1992) PUBMED 1358795 REFERENCE 7 (residues 1 to 526) AUTHORS Fowler KJ, Clouston WM, Fournier RE and Evans BA. TITLE The relaxin gene is located on chromosome 19 in the mouse JOURNAL FEBS Lett 292 (1-2), 183-186 (1991) PUBMED 1959604 REFERENCE 8 (residues 1 to 526) AUTHORS Horlick KR, Cheng IC, Wong WT, Wakeland EK and Nick HS. TITLE Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family JOURNAL Genomics 10 (2), 365-374 (1991) PUBMED 1676980 REFERENCE 9 (residues 1 to 526) AUTHORS Chainani M, Sampsell B and Elliott RW. TITLE Localization of the gene for plasma retinol binding protein to the distal half of mouse chromosome 19 JOURNAL Genomics 9 (2), 376-379 (1991) PUBMED 2004789 REFERENCE 10 (residues 1 to 526) AUTHORS Levanon D, Hsieh CL, Francke U, Dawson PA, Ridgway ND, Brown MS and Goldstein JL. TITLE cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19 JOURNAL Genomics 7 (1), 65-74 (1990) PUBMED 1970801 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC025794.9. On May 30, 2009 this sequence version replaced NP_032603.2. Transcript Variant: This variant (2) differs in the 5' coding region and 5' UTR, compared to variant 1. This results in a shorter and distinct N-terminus in isoform b, compared to isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC065173.1, AB023408.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..526 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 5.44 cM" Protein 1..526 /product="amino acid transporter heavy chain SLC3A2 isoform b" /note="antigen identified by monoclonal antibodies 4F2; 4F2 cell-surface antigen heavy chain; CD98 heavy chain; type II transmembrane protein; CD98 antigen; solute carrier family 3 member 2; amino acid transporter heavy chain SLC3A2" /calculated_mol_wt=58206 Region 1..31 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 2 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 5 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q794F9; propagated from UniProtKB/Swiss-Prot (P10852.1)" Region 40..118 /region_name="SLC3A2_N" /note="Solute carrier family 3 member 2 N-terminus; pfam16028" /db_xref="CDD:435083" Site 58 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 76..99 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P10852.1)" Region 100..429 /region_name="AmyAc_family" /note="Alpha amylase catalytic domain family; cl38930" /db_xref="CDD:453893" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site order(205,240,242,273,332..333) /site_type="active" /db_xref="CDD:200451" Site order(242,273,333) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:200451" Site 259 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 263 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 300 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 301 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 302 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 318 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 385 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 399 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19349973, ECO:0000269|PubMed:19656770; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 420 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P08195; propagated from UniProtKB/Swiss-Prot (P10852.1)" Site 509 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P10852.1)" CDS 1..526 /gene="Slc3a2" /gene_synonym="4F2; 4F2HC; Cd98; Ly-10; Ly-m10; Ly10; Mdu1; Mgp-2hc; NACAE" /coded_by="NM_008577.5:151..1731" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS29540.1" /db_xref="GeneID:17254" /db_xref="MGI:MGI:96955" ORIGIN 1 msqdtevdmk dvelnelepe kqpmnaadga aageknglvk ikvaedetea gvkftglske 61 ellkvagspg wvrtrwalll lfwlgwlgml agavviivra prcrelpvqr wwhkgalyri 121 gdlqafvgrd aggiaglksh leylstlkvk glvlgpihkn qkdeinetdl kqinptlgsq 181 edfkdllqsa kkksihiild ltpnyqgqna wflpaqadiv atkmkealss wlqdgvdgfq 241 frdvgklmna plylaewqni tknlsedrll iagtessdlq qivnilests dllltssyls 301 nstftgerte slvtrflnat gsqwcswsvs qaglladfip dhllrlyqll lftlpgtpvf 361 sygdelglqg alpgqpakap lmpwnessif hiprpvslnm tvkgqnedpg slltqfrrls 421 dlrgkersll hgdfhalsss pdlfsyirhw dqnerylvvl nfrdsgrsar lgasnlpagi 481 slpasaklll stdsarqsre edtslklenl slnpyeglll qfpfva // LOCUS NP_001351565 385 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 4 [Mus musculus]. ACCESSION NP_001351565 XP_006516216 VERSION NP_001351565.1 DBSOURCE REFSEQ: accession NM_001364636.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 385) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 385) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 385) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 385) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 385) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 385) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 385) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 385) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 385) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 385) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2, AC108802.15 and CT009504.11. On Jun 26, 2018 this sequence version replaced XP_006516216.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7652917.751283.1, SRR7345562.2309346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164136 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..385 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..385 /product="RNA-binding protein Nova-1 isoform 4" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=38594 Region 50..119 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(61..63,65..69,72..73,83..85,87..89,97) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 300..370 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(308..309,311..313,315..319,322..323,333..339,341, 346,348) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..385 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364636.1:485..1642" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mpqnvaktep vsilqpqttv npdrikqtlp ssptttkssp sdpmttsran qvkiivpnst 61 agliigkgga tvkaimeqsg awvqlsqkpd ginlqervvt vsgepeqnrk aveliiqkiq 121 edpqsgscln isyanvtgpv ansnptgspy antaevlpta aaaagllgha nlagvaafpa 181 vlsgftgndl vaitsalntl asygynlntl glglsqaaat galaaaaasa npaaaaanll 241 atyaseasas gstaggtagt falgslaaat aatngyfgaa splaasailg tekstdgskd 301 vveiavpenl vgailgkggk tlveyqeltg ariqiskkge fvpgtrnrkv titgtpaatq 361 aaqylitqri tyeqgvraan pqkvg // LOCUS NP_058057 773 aa linear ROD 09-OCT-2023 DEFINITION nuclear autoantigenic sperm protein isoform 2 [Mus musculus]. ACCESSION NP_058057 VERSION NP_058057.3 DBSOURCE REFSEQ: accession NM_016777.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 773) AUTHORS Bao Y, Lian M, Chen Y, Gu X, Cao K, Du X and Ju J. TITLE sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway JOURNAL J Immunol Res 2023, 4877700 (2023) PUBMED 37771504 REMARK GeneRIF: sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway. Publication Status: Online-Only REFERENCE 2 (residues 1 to 773) AUTHORS Li J, Jiang H, Mu Y, Wei Z, Ma A, Sun M, Zhao J, Zhu C and Chen X. TITLE SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex JOURNAL iScience 26 (7), 107042 (2023) PUBMED 37360696 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 773) AUTHORS Zhang Y, Yan H, Zhu J, Chen L, Wang H and Ju J. TITLE [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A] JOURNAL Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 38 (7), 577-583 (2022) PUBMED 35786450 REMARK GeneRIF: [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A]. REFERENCE 4 (residues 1 to 773) AUTHORS Zhang J, Du X, Wang H, Bao Y, Lian M, Xu Z and Ju J. TITLE A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse JOURNAL Mediators Inflamm 2021, 8175863 (2021) PUBMED 34720750 REMARK GeneRIF: A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse. Publication Status: Online-Only REFERENCE 5 (residues 1 to 773) AUTHORS Ju J, Xu J, Zhu Y, Fu X, Morel L and Xu Z. TITLE A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus JOURNAL Front Immunol 10, 637 (2019) PUBMED 31001259 REMARK GeneRIF: A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus. Publication Status: Online-Only REFERENCE 6 (residues 1 to 773) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 REFERENCE 7 (residues 1 to 773) AUTHORS Richardson RT, Bencic DC and O'Rand MG. TITLE Comparison of mouse and human NASP genes and expression in human transformed and tumor cell lines JOURNAL Gene 274 (1-2), 67-75 (2001) PUBMED 11674998 REFERENCE 8 (residues 1 to 773) AUTHORS Richardson RT, Batova IN, Widgren EE, Zheng LX, Whitfield M, Marzluff WF and O'Rand MG. TITLE Characterization of the histone H1-binding protein, NASP, as a cell cycle-regulated somatic protein JOURNAL J Biol Chem 275 (39), 30378-30386 (2000) PUBMED 10893414 REFERENCE 9 (residues 1 to 773) AUTHORS Hemberger M, Himmelbauer H, Ruschmann J, Zeitz C and Fundele R. TITLE cDNA subtraction cloning reveals novel genes whose temporal and spatial expression indicates association with trophoblast invasion JOURNAL Dev Biol 222 (1), 158-169 (2000) PUBMED 10885754 REFERENCE 10 (residues 1 to 773) AUTHORS Leimeister C, Bach A, Woolf AS and Gessler M. TITLE Screen for genes regulated during early kidney morphogenesis JOURNAL Dev Genet 24 (3-4), 273-283 (1999) PUBMED 10322635 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BX004835.3 and AL669953.7. On Feb 9, 2007 this sequence version replaced NP_058057.2. Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF034610.2, SRR7345562.2481421.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164138, SAMN01164141 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..773 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="4" /map="4 53.24 cM" Protein 1..773 /product="nuclear autoantigenic sperm protein isoform 2" /note="somatic histone binding protein NASP" /calculated_mol_wt=83882 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 33 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 43..76 /region_name="TPR 1. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 115..244 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 116..127 /region_name="Histone-binding. /evidence=ECO:0000250|UniProtKB:P49321" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 123 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 127 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 169 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 175 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 188 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 210..242 /region_name="Histone-binding. /evidence=ECO:0000250|UniProtKB:P49321" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 237..270 /region_name="TPR 2. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 241 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 242 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region <250..505 /region_name="2A1904" /note="K+-dependent Na+/Ca+ exchanger; TIGR00927" /db_xref="CDD:273344" Site 251 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 258..284 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 284 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 301..321 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 304 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q66HD3; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 319 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 349..493 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 377 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 384 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 395 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 396 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q66HD3; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 450 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 455..498 /region_name="Histone-binding. /evidence=ECO:0000250|UniProtKB:P49321" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 463 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 466 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 483 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 489 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 497..520 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 526..602 /region_name="TPR_12" /note="Tetratricopeptide repeat; pfam13424" /db_xref="CDD:315987" Region 528..565 /region_name="SHNi-TPR" /note="pfam10516" /db_xref="CDD:402238" Region 528..561 /region_name="TPR 3. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 528..556 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(529,532..533,536..537,539,571,574..575,578..579, 581..582,603,606..607,610) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region 561..599 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 570..603 /region_name="TPR 4. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 648 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 669 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 683..773 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 691 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 692 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Region 702..708 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 712 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 731 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 737 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" Site 742 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49321; propagated from UniProtKB/Swiss-Prot (Q99MD9.2)" CDS 1..773 /gene="Nasp" /gene_synonym="5033430J04Rik; D4Ertd767e; Epcs32; Nasp-T" /coded_by="NM_016777.3:102..2423" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS18513.1" /db_xref="GeneID:50927" /db_xref="MGI:MGI:1355328" ORIGIN 1 matestaaaa iaaelvsadk iedapapsts adkmesldvd seakkllglg qkhlvmgdip 61 aavnafqeaa sllgkkyget anecgeafff ygksllelar mengvlgnal egvhveeeeg 121 ektedeslve nndnvdeear eelreqvyda mgekeakkae gksltkpetd keqesevekg 181 gredmdisep eeklqetvep tskqltesse eakeaaipgl nedevasgkt eqeslctekg 241 ksisgayvqn kefretveeg eeiislekkp ketsedqpir aaekqgtlmk vveieaeidp 301 qvksadvgge epkdqvatse selgkavlme lsgqdveasp vvaaeagaev sekpgqeitv 361 ipnngpvvgq stvgdqtpse pqtsaerlte tkdgssveev kaelvpeqee amlpveesea 421 agdgvetkva qratekaped kfkiaaneet qerdeqmkeg eetegseeed rendkaeetp 481 nesvlekksl qeneeeeign lelawdmldl akiifkrqet keaqlyaaqa hlklgevsve 541 senyiqavee fqaclslqeq yleahdrlla ethyqlglay gynsqydeav aqfgksidvi 601 ekrmavlheq mkeaegsfte yekeieelke llpeirekie dakesqrsgn vaelalkatl 661 vesstsgftp sgagasvsmi asrkptdgas ssncvtdish lvrkkrkpee esprkddakk 721 akqepevngg sgdavssgke vsenmeaeae nqaesqtaeg tvesaatiks tac // LOCUS NP_001017426 1641 aa linear ROD 09-OCT-2023 DEFINITION lysine-specific demethylase 6B [Mus musculus]. ACCESSION NP_001017426 XP_006532961 XP_126426 VERSION NP_001017426.1 DBSOURCE REFSEQ: accession NM_001017426.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1641) AUTHORS Phan QM, Salz L, Kindl SS, Lopez JS, Thompson SM, Makkar J, Driskell IM and Driskell RR. TITLE Lineage commitment of dermal fibroblast progenitors is controlled by Kdm6b-mediated chromatin demethylation JOURNAL EMBO J 42 (19), e113880 (2023) PUBMED 37602956 REMARK GeneRIF: Lineage commitment of dermal fibroblast progenitors is controlled by Kdm6b-mediated chromatin demethylation. REFERENCE 2 (residues 1 to 1641) AUTHORS Chen A, Sun Z, Sun D, Huang M, Fang H, Zhang J and Qian G. TITLE Integrative bioinformatics and validation studies reveal KDM6B and its associated molecules as crucial modulators in Idiopathic Pulmonary Fibrosis JOURNAL Front Immunol 14, 1183871 (2023) PUBMED 37275887 REMARK GeneRIF: Integrative bioinformatics and validation studies reveal KDM6B and its associated molecules as crucial modulators in Idiopathic Pulmonary Fibrosis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1641) AUTHORS Dror E, Fagnocchi L, Wegert V, Apostle S, Grimaldi B, Gruber T, Panzeri I, Heyne S, Hoffler KD, Kreiner V, Ching R, Tsai-Hsiu Lu T, Semwal A, Johnson B, Senapati P, Lempradl A, Schones D, Imhof A, Shen H and Pospisilik JA. TITLE Epigenetic dosage identifies two major and functionally distinct beta cell subtypes JOURNAL Cell Metab 35 (5), 821-836 (2023) PUBMED 36948185 REFERENCE 4 (residues 1 to 1641) AUTHORS Issa N, Bjeije H, Wilson ER, Krishnan A, Dunuwille WMB, Parsons TM, Zhang CR, Han W, Young AL, Ren Z, Ge K, Wang ES, Weng AP, Cashen A, Spencer DH and Challen GA. TITLE KDM6B protects T-ALL cells from NOTCH1-induced oncogenic stress JOURNAL Leukemia 37 (4), 728-740 (2023) PUBMED 36797416 REMARK GeneRIF: KDM6B protects T-ALL cells from NOTCH1-induced oncogenic stress. REFERENCE 5 (residues 1 to 1641) AUTHORS Gao Y, Wang N and Jia D. TITLE JMJD3 downregulates IL4i1 aggravating lipopolysaccharide-induced acute lung injury via H3K27 and H3K4 demethylation JOURNAL Environ Toxicol 38 (4), 754-769 (2023) PUBMED 36537648 REMARK GeneRIF: JMJD3 downregulates IL4i1 aggravating lipopolysaccharide-induced acute lung injury via H3K27 and H3K4 demethylation. REFERENCE 6 (residues 1 to 1641) AUTHORS Hong S, Cho YW, Yu LR, Yu H, Veenstra TD and Ge K. TITLE Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases JOURNAL Proc Natl Acad Sci U S A 104 (47), 18439-18444 (2007) PUBMED 18003914 REMARK GeneRIF: UTX and JMJD3 may function as H3K27 demethylases in vivo GeneRIF: JMJD3 demethylates di- and trimethylated lysine 27 of histone H3 in vitro and in cells. REFERENCE 7 (residues 1 to 1641) AUTHORS Jepsen K, Solum D, Zhou T, McEvilly RJ, Kim HJ, Glass CK, Hermanson O and Rosenfeld MG. TITLE SMRT-mediated repression of an H3K27 demethylase in progression from neural stem cell to neuron JOURNAL Nature 450 (7168), 415-419 (2007) PUBMED 17928865 REMARK GeneRIF: data reveal that SMRT represses expression of JMJD3, a direct retinoic-acid-receptor target that functions as a histone H3 trimethyl K27 demethylase and which is capable of activating specific components of the neurogenic program REFERENCE 8 (residues 1 to 1641) AUTHORS De Santa F, Totaro MG, Prosperini E, Notarbartolo S, Testa G and Natoli G. TITLE The histone H3 lysine-27 demethylase Jmjd3 links inflammation to inhibition of polycomb-mediated gene silencing JOURNAL Cell 130 (6), 1083-1094 (2007) PUBMED 17825402 REMARK GeneRIF: Jmjd3 binds polycomb group protein target genes and regulates their histone H3 lysine 27 trimethylation levels and transcriptional activity. Provides a link between inflammation and reprogramming of the epigenome. REFERENCE 9 (residues 1 to 1641) AUTHORS Okazaki N, Kikuno R, Ohara R, Inamoto S, Koseki H, Hiraoka S, Saga Y, Nagase T, Ohara O and Koga H. TITLE Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries JOURNAL DNA Res 10 (4), 167-180 (2003) PUBMED 14621295 REFERENCE 10 (residues 1 to 1641) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL596125.27. On or before Jun 8, 2018 this sequence version replaced XP_006532961.1, XP_126426.4. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC075632.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1641 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 42.6 cM" Protein 1..1641 /product="lysine-specific demethylase 6B" /EC_number="1.14.11.68" /note="jumonji domain containing 3; jmjC domain-containing protein 3; jumonji domain-containing protein 3; [histone H3]-trimethyl-L-lysine(27) demethylase 6B" /calculated_mol_wt=176225 Region 42..89 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Region 106..136 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 188..682 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Site 224 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O15054; propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Region 704..808 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Region 824..1085 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Region 1286..1323 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q5NCY0.1)" Region 1341..1405 /region_name="JmjC" /note="A domain family that is part of the cupin metalloenzyme superfamily; smart00558" /db_xref="CDD:214721" Region 1375..1483 /region_name="JmjC" /note="JmjC domain, hydroxylase; pfam02373" /db_xref="CDD:396791" CDS 1..1641 /gene="Kdm6b" /gene_synonym="1700064E03Rik; Jmjd3" /coded_by="NM_001017426.2:587..5512" /db_xref="CCDS:CCDS24895.1" /db_xref="GeneID:216850" /db_xref="MGI:MGI:2448492" ORIGIN 1 mhravdppga rsareafalg glscagawss cpphppprss wlpggrcsas vgqpplsapl 61 ppshgsssgh pnkpyyapgt ptprplhgkl eslhgcvqal lrepaqpglw eqlgqlyese 121 hdseeavccy hralryggsf aelgprigrl qqaqlwnfha gscqhrakvl ppleqvwnll 181 hlehkrnyga krggppvkrs aeppvvqpmp paalsgpsge eglspggkrr rgcsseqagl 241 ppglplpppp pppppppppp pppppplpgl aisppfqltk pglwntlhgd awgperkgsa 301 pperqeqrhs mphsypypap aysahppshr lvpntplgpg prppgaeshg clpatrppgs 361 dlresrvqrs rmdssvspaa stacvpyaps rppglpgtss ssssssssnn tglrgvepsp 421 gipgadhyqn paleisphqa rlgpsahssr kpfltapaat phlslppgtp ssppppcprl 481 lrpppppawm kgsacraare dgeilgelff gaegpprppp pplphrdgfl gppnprfsvg 541 tqdshnppip ptttssssss nshsssptgp vpfpppsyla rsidplprps sptlspqdpp 601 lppltlalpp appsschqnt sgsfrrsesp rprvsfpktp evgqgpppgp vskapqpvpp 661 gvgelpargp rlfdfpptpl edqfeepaef kilpdglani mkmldesirk eeeqqqqqea 721 gvapppplke pfaslqppfp sdtapattta apttattttt ttttttqeee kkpppalppp 781 pplakfpppp qpqppppppa spasllksla svlegqkycy rgtgaavstr pgsvpatqys 841 pspasgatap pptsvapsaq gspkpsvsss sqfstsggpw arehrageep apgpvtpaql 901 ppplplppar sesevleeis racetlverv grsainpvdt adpvdsgtep qpppaqakee 961 sggvavaaag pgsgkrrqke hrrhrracrd svgrrpregr akakakapke ksrrvlgnld 1021 lqseeiqgre karpdvggvs kvktptapap ppapapaaqp tppsapvpgk ktreeapgpp 1081 gvsradmlkl rslsegppke lkirlikves gdketfiase veerrlrmad ltishcaadv 1141 mrasknakvk gkfresylsp aqsvkpkint eeklprekln pptpsiyles krdafspvll 1201 qfctdprnpi tvirglagsl rlnlglfstk tlveasgeht vevrtqvqqp sdenwdltgt 1261 rqiwpcessr shttiakyaq yqassfqesl qeeresedee seepdsttgt spssapdpkn 1321 hhiikfgtni dlsdakrwkp qlqellklpa fmrvtstgnm lshvghtilg mntvqlymkv 1381 pgsrtpghqe nnnfcsvnin igpgdcewfa vhehywetis afcdrhgvdy ltgswwpild 1441 dlyasnipvy rfvqrpgdlv winagtvhwv qatgwcnnia wnvgpltayq yqlaleryew 1501 nevknvksiv pmihvswnva rtvkisdpdl fkmikfcllq smkhcqvqre slvragkkia 1561 yqgrvkdepa yycnecdvev fnilfvtsen gsrntylvhc egcarrrsag lqgvvvleqy 1621 rteelaqayd aftlapasts r // LOCUS NP_001165677 589 aa linear ROD 09-OCT-2023 DEFINITION AT-rich interactive domain-containing protein 5A isoform 2 [Mus musculus]. ACCESSION NP_001165677 VERSION NP_001165677.1 DBSOURCE REFSEQ: accession NM_001172206.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 589) AUTHORS Li X, Hua S, Fang D, Fei X, Tan Z, Zheng F, Wang W and Fang M. TITLE RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice JOURNAL Clin Exp Med 23 (6), 2167-2179 (2023) PUBMED 36454447 REMARK GeneRIF: RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice. REFERENCE 2 (residues 1 to 589) AUTHORS Taylor TC, Li Y, Li DD, Majumder S, McGeachy MJ, Biswas PS, Gingras S and Gaffen SL. TITLE Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense JOURNAL J Immunol 209 (6), 1138-1145 (2022) PUBMED 35940634 REMARK GeneRIF: Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense. REFERENCE 3 (residues 1 to 589) AUTHORS Catela C, Chen Y, Weng Y, Wen K and Kratsios P. TITLE Control of spinal motor neuron terminal differentiation through sustained Hoxc8 gene activity JOURNAL Elife 11, e70766 (2022) PUBMED 35315772 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 589) AUTHORS Nyati KK, Hashimoto S, Singh SK, Tekguc M, Metwally H, Liu YC, Okuzaki D, Gemechu Y, Kang S and Kishimoto T. TITLE The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway JOURNAL Cancer Lett 520, 295-306 (2021) PUBMED 34389433 REMARK GeneRIF: The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway. REFERENCE 5 (residues 1 to 589) AUTHORS Chalise JP, Hashimoto S, Parajuli G, Kang S, Singh SK, Gemechu Y, Metwally H, Nyati KK, Dubey PK, Zaman MM, Nagahama Y, Hamza H, Masuda K and Kishimoto T. TITLE Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis JOURNAL Proc Natl Acad Sci U S A 116 (30), 15128-15133 (2019) PUBMED 31289228 REMARK GeneRIF: Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis. REFERENCE 6 (residues 1 to 589) AUTHORS Zaman MM, Masuda K, Nyati KK, Dubey PK, Ripley B, Wang K, Chalise JP, Higa M, Hanieh H and Kishimoto T. TITLE Arid5a exacerbates IFN-gamma-mediated septic shock by stabilizing T-bet mRNA JOURNAL Proc Natl Acad Sci U S A 113 (41), 11543-11548 (2016) PUBMED 27671645 REMARK GeneRIF: Arid5a deficiency resulted in decreased levels of IFN-gamma under Th1 cell conditions, in which T-box expressed in T cells (T-bet) mRNA expression was inhibited. REFERENCE 7 (residues 1 to 589) AUTHORS Masuda K, Ripley B, Nyati KK, Dubey PK, Zaman MM, Hanieh H, Higa M, Yamashita K, Standley DM, Mashima T, Katahira M, Okamoto T, Matsuura Y, Takeuchi O and Kishimoto T. TITLE Arid5a regulates naive CD4+ T cell fate through selective stabilization of Stat3 mRNA JOURNAL J Exp Med 213 (4), 605-619 (2016) PUBMED 27022145 REMARK GeneRIF: T cell-intrinsic role of Arid5a on fate decisions of naive CD4(+)T cells through selective stabilization of Stat3 mRNA. REFERENCE 8 (residues 1 to 589) AUTHORS Masuda K, Ripley B, Nishimura R, Mino T, Takeuchi O, Shioi G, Kiyonari H and Kishimoto T. TITLE Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo JOURNAL Proc Natl Acad Sci U S A 110 (23), 9409-9414 (2013) PUBMED 23676272 REMARK GeneRIF: Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo. REFERENCE 9 (residues 1 to 589) AUTHORS Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R and Yoneda T. TITLE Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription JOURNAL Mol Biol Cell 22 (8), 1300-1311 (2011) PUBMED 21346191 REMARK GeneRIF: AT-rich interactive domain-containing protein 5a (Arid5a) cooperates with Sox9 to stimulate chondrocyte-specific transcription. REFERENCE 10 (residues 1 to 589) AUTHORS Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E. TITLE Nomenclature of the ARID family of DNA-binding proteins JOURNAL Genomics 86 (2), 242-251 (2005) PUBMED 15922553 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY196834.1, AK149839.1 and AK029237.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI555214.1, BE382286.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..589 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 15.2 cM" Protein 1..589 /product="AT-rich interactive domain-containing protein 5A isoform 2" /note="AT rich interactive domain 5A (Mrf1 like); modulator recognition factor I; AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like)" /calculated_mol_wt=63697 Region 55..137 /region_name="ARID_ARID5A" /note="ARID/BRIGHT DNA binding domain of AT-rich interactive domain-containing protein 5A (ARID5A) and similar proteins; cd16884" /db_xref="CDD:350648" Site order(72..78,103,105..106,109,120,122..124,126) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:350648" CDS 1..589 /gene="Arid5a" /gene_synonym="D430024K22Rik; Mrf1" /coded_by="NM_001172206.1:101..1870" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:214855" /db_xref="MGI:MGI:2443039" ORIGIN 1 mappakgnte qseegdlpql pvspkpddeq srsqsptqlq dspeaggeqe eeqaflvsly 61 kfmkerhtpi ervphlgfkq inlwkiykav eklgayelvt grrlwknvyd elggspgsts 121 aatctrrhye rlvlpyvrhl kgeddkplpp tkprkqykma kelrgddgtt eklkkakdse 181 errveqttpg ktksdatgqt qlpcqgssrd steqlgpvsg psppltgass cpeaykrlls 241 sfyckgahgi msplakkkll aqvskaealq cqeegcrhga rspnkdiqds pqnlrgpaen 301 sehqltpreg lqapggstrm eaqvgpcpta pmfsgcfhay ptevlkpvsq hprdffsglk 361 drvllgppgk eegpttkesh lvwggdanhp safhkgstrk rsfypkpkac wvspmakvpt 421 erpgapsphp sspglgskrg leeegfahgg kklravspfl kevdsketgg kpaapglavs 481 cllgptpgpt ppeayrgtml rcplnftgsa dplkgqaslp fsplvipafp ahllattgss 541 pmaaslmhfp ptpydavlrn rlgpassawh mppvttyaap hffhlntkl // LOCUS NP_001409071 823 aa linear ROD 09-OCT-2023 DEFINITION hypoxia-inducible factor 1-alpha isoform 5 [Mus musculus]. ACCESSION NP_001409071 XP_006515541 VERSION NP_001409071.1 DBSOURCE REFSEQ: accession NM_001422142.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 823) AUTHORS Xu R, Shen S, Wang D, Ye J, Song S, Wang Z and Yue Z. TITLE The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury JOURNAL J Mol Histol 54 (5), 439-451 (2023) PUBMED 37728670 REMARK GeneRIF: The role of HIF-1alpha-mediated autophagy in ionizing radiation-induced testicular injury. REFERENCE 2 (residues 1 to 823) AUTHORS Yang Z, Su W, Wei X, Qu S, Zhao D, Zhou J, Wang Y, Guan Q, Qin C, Xiang J, Zen K and Yao B. TITLE HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1 JOURNAL Cell Rep 42 (8), 112945 (2023) PUBMED 37542723 REMARK GeneRIF: HIF-1alpha drives resistance to ferroptosis in solid tumors by promoting lactate production and activating SLC1A1. REFERENCE 3 (residues 1 to 823) AUTHORS Dery KJ, Kojima H, Kageyama S, Kadono K, Hirao H, Cheng B, Zhai Y, Farmer DG, Kaldas FM, Yuan X, Eltzschig HK and Kupiec-Weglinski JW. TITLE Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans JOURNAL Sci Transl Med 15 (707), eadf2059 (2023) PUBMED 37531413 REMARK GeneRIF: Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans. REFERENCE 4 (residues 1 to 823) AUTHORS Guo Z, Yu X, Zhao S, Zhong X, Huang D, Feng R, Li P, Fang Z, Hu Y, Zhang Z, Abdurahman M, Huang L, Zhao Y, Wang X, Ge J and Li H. TITLE SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter JOURNAL Clin Transl Med 13 (8), e1377 (2023) PUBMED 37598403 REMARK GeneRIF: SIRT6 deficiency in endothelial cells exacerbates oxidative stress by enhancing HIF1alpha accumulation and H3K9 acetylation at the Ero1alpha promoter. REFERENCE 5 (residues 1 to 823) AUTHORS Zhang G, Liu B, Yang Y, Xie S, Chen L, Luo H, Zhong J, Wei Y, Guo F, Gan J, Zhu F, Xu L, Li Q, Shen Y, Zhang H, Liu Y, Li R, Deng H and Yang H. TITLE Mitochondrial UQCC3 controls embryonic and tumor angiogenesis by regulating VEGF expression JOURNAL iScience 26 (8), 107370 (2023) PUBMED 37539028 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 823) AUTHORS Li H, Ko HP and Whitlock JP. TITLE Induction of phosphoglycerate kinase 1 gene expression by hypoxia. Roles of Arnt and HIF1alpha JOURNAL J Biol Chem 271 (35), 21262-21267 (1996) PUBMED 8702901 REFERENCE 7 (residues 1 to 823) AUTHORS Wood SM, Gleadle JM, Pugh CW, Hankinson O and Ratcliffe PJ. TITLE The role of the aryl hydrocarbon receptor nuclear translocator (ARNT) in hypoxic induction of gene expression. Studies in ARNT-deficient cells JOURNAL J Biol Chem 271 (25), 15117-15123 (1996) PUBMED 8662957 REFERENCE 8 (residues 1 to 823) AUTHORS Semenza GL, Rue EA, Iyer NV, Pang MG and Kearns WG. TITLE Assignment of the hypoxia-inducible factor 1alpha gene to a region of conserved synteny on mouse chromosome 12 and human chromosome 14q JOURNAL Genomics 34 (3), 437-439 (1996) PUBMED 8786149 REFERENCE 9 (residues 1 to 823) AUTHORS Wenger RH, Rolfs A, Marti HH, Guenet JL and Gassmann M. TITLE Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha JOURNAL Biochem Biophys Res Commun 223 (1), 54-59 (1996) PUBMED 8660378 REFERENCE 10 (residues 1 to 823) AUTHORS Obara N and Takeda M. TITLE Expression of neural cell adhesion molecule (NCAM) during the first molar development in the mouse JOURNAL Anat Embryol (Berl) 187 (3), 209-219 (1993) PUBMED 8470821 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124712.5. On Jun 6, 2023 this sequence version replaced XP_006515541.1. Summary: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784651.871961.1, SRR17784646.663546.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..823 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 31.99 cM" Protein 1..823 /product="hypoxia-inducible factor 1-alpha isoform 5" /note="hypoxia-inducible factor 1-alpha; ARNT-interacting protein" /calculated_mol_wt=91886 Region 14..84 /region_name="bHLH-PAS_HIF1a_PASD8" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins; cd19727" /db_xref="CDD:381570" Site order(19..20,22..24,27..28,30..31,56..57) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381570" Region 22..31 /region_name="DNA-binding. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site order(33..34,36..37,40..41,44..45,56..58,61..62,65,68..69, 72) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381570" Region 94..149 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 171..192 /region_name="Required for heterodimer formation with ARNT. /evidence=ECO:0000269|PubMed:26245371" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 248 /site_type="phosphorylation" /note="Phosphoserine, by CK1. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 255..340 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(256,260,266,279..282,308,313) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(276,280,288,291..292,320,322) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 381..418 /region_name="N-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 403 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 493..512 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 531..575 /region_name="NTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 532 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 551..580 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:431874" Site 551 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 555 /site_type="phosphorylation" /note="Phosphothreonine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 556..572 /region_name="C-terminal VHL recognition site" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 564 /site_type="hydroxylation" /note="4-hydroxyproline. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 576..782 /region_name="ID" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 576 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 580..671 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 589 /site_type="phosphorylation" /note="Phosphoserine, by GSK3-beta. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 655 /site_type="phosphorylation" /note="Phosphoserine, by PLK3. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 694..721 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Site 706 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 715..718 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 783..823 /region_name="CTAD" /note="propagated from UniProtKB/Swiss-Prot (Q61221.3)" Region 786..822 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:430212" Site 800 /site_type="hydroxylation" /note="(3S)-3-hydroxyasparagine. /evidence=ECO:0000250|UniProtKB:Q16665; propagated from UniProtKB/Swiss-Prot (Q61221.3)" CDS 1..823 /gene="Hif1a" /gene_synonym="bHLHe78; HIF-1-alpha; HIF1-alpha; HIF1alpha; MOP1" /coded_by="NM_001422142.1:290..2761" /note="isoform 5 is encoded by transcript variant 5" /db_xref="GeneID:15251" /db_xref="MGI:MGI:106918" ORIGIN 1 megaggenek knrmsserrk eksrdaarsr rskesevfye lahqlplphn vsshldkasv 61 mrltisylrv rklldaggld sedemkaqmd cfylkaldgf vmvltddgdm vyisdnvnky 121 mgltqfeltg hsvfdfthpc dheemremlt hrngpvrkgk elntqrsffl rmkctltsrg 181 rtmniksatw kvlhctghih vydtnsnqpq cgykkppmtc lvlicepiph psnieiplds 241 ktflsrhsld mkfsycderi telmgyepee llgrsiyeyy haldsdhltk thhdmftkgq 301 vttgqyrmla krggyvwvet qatviyntkn sqpqcivcvn yvvsgiiqhd lifslqqtes 361 vlkpvessdm kmtqlftkve sedtsclfdk lkkepdaltl lapaagdtii sldfgsddte 421 tedqqledvp lyndvmfpss neklninlam splpssetpk plrssadpal nqevalkles 481 speslglsft mpqiqdqpas psdgstrqss pepnspseyc fdvdsdmvnv fklelveklf 541 aedteaknpf stqdtdldle mlapyipmdd dfqlrsfdql splesnspsp psmstvtgfq 601 qtqlqkptit atatttattd esktetkdnk edikiliasp sstqvpqett takasaysgt 661 hsrtaspdra gkrvieqtdk ahprslnlsa tlnqrntvpe eelnpktias qnaqrkrkme 721 hdgslfqaag igtllqqpgd captmslswk rvkgfisseq ngteqktiil ipsdlacrll 781 gqsmdesglp qltsydcevn apiqgsrnll qgeellrald qvn // LOCUS NP_001013801 354 aa linear ROD 09-OCT-2023 DEFINITION interferon-inducible protein AIM2 [Mus musculus]. ACCESSION NP_001013801 XP_357160 VERSION NP_001013801.2 DBSOURCE REFSEQ: accession NM_001013779.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 354) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 2 (residues 1 to 354) AUTHORS Ye L, Shu S, Jia J, Sun M, Xu S, Bao X, Bian H, Liu Y, Zhang M, Zhu X, Bai F and Xu Y. TITLE Absent in melanoma 2 mediates aging-related cognitive dysfunction by acting on complement-dependent microglial phagocytosis JOURNAL Aging Cell 22 (7), e13860 (2023) PUBMED 37177836 REMARK GeneRIF: Absent in melanoma 2 mediates aging-related cognitive dysfunction by acting on complement-dependent microglial phagocytosis. REFERENCE 3 (residues 1 to 354) AUTHORS Dawson RE, Deswaerte V, West AC, Sun E, Wray-McCann G, Livis T, Kumar B, Rodriguez E, Gabay C, Ferrero RL and Jenkins BJ. TITLE The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome JOURNAL Immunol Cell Biol 101 (5), 444-457 (2023) PUBMED 36967659 REMARK GeneRIF: The cytosolic DNA sensor AIM2 promotes Helicobacter-induced gastric pathology via the inflammasome. REFERENCE 4 (residues 1 to 354) AUTHORS Chen Y, Pu J, Li X, Lian L, Ge C, Liu Z, Wang W, Hou L, Chen W and Li J. TITLE Aim2 Deficiency Ameliorates Lacrimal Gland Destruction and Corneal Epithelium Defects in an Experimental Dry Eye Model JOURNAL Invest Ophthalmol Vis Sci 64 (3), 26 (2023) PUBMED 36920364 REMARK GeneRIF: Aim2 Deficiency Ameliorates Lacrimal Gland Destruction and Corneal Epithelium Defects in an Experimental Dry Eye Model. REFERENCE 5 (residues 1 to 354) AUTHORS Barclay WE, Aggarwal N, Deerhake ME, Inoue M, Nonaka T, Nozaki K, Luzum NA, Miao EA and Shinohara ML. TITLE The AIM2 inflammasome is activated in astrocytes during the late phase of EAE JOURNAL JCI Insight 7 (8), e155563 (2022) PUBMED 35451371 REMARK GeneRIF: The AIM2 inflammasome is activated in astrocytes during the late phase of EAE. Publication Status: Online-Only REFERENCE 6 (residues 1 to 354) AUTHORS Fernandes-Alnemri T, Yu JW, Datta P, Wu J and Alnemri ES. TITLE AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA JOURNAL Nature 458 (7237), 509-513 (2009) PUBMED 19158676 REMARK GeneRIF: identification of AIM2 as an important inflammasome component that senses potentially dangerous cytoplasmic DNA, leading to activation of the ASC pyroptosome and caspase-1 REFERENCE 7 (residues 1 to 354) AUTHORS Hornung V, Ablasser A, Charrel-Dennis M, Bauernfeind F, Horvath G, Caffrey DR, Latz E and Fitzgerald KA. TITLE AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC JOURNAL Nature 458 (7237), 514-518 (2009) PUBMED 19158675 REMARK GeneRIF: observations identify AIM2 as a new receptor for cytoplasmic DNA, which forms an inflammasome with the ligand and ASC to activate caspase-1 REFERENCE 8 (residues 1 to 354) AUTHORS Roberts TL, Idris A, Dunn JA, Kelly GM, Burnton CM, Hodgson S, Hardy LL, Garceau V, Sweet MJ, Ross IL, Hume DA and Stacey KJ. TITLE HIN-200 proteins regulate caspase activation in response to foreign cytoplasmic DNA JOURNAL Science 323 (5917), 1057-1060 (2009) PUBMED 19131592 REMARK GeneRIF: study showed p202 is an inhibitor of DNA-induced caspase activation; conversely AIM2 was required for caspase activation by cytoplasmic dsDNA; work indicates HIN-200 proteins can act as pattern recognition receptors mediating response to cytoplasmic dsDNA REFERENCE 9 (residues 1 to 354) AUTHORS Pritsker M, Doniger TT, Kramer LC, Westcot SE and Lemischka IR. TITLE Diversification of stem cell molecular repertoire by alternative splicing JOURNAL Proc Natl Acad Sci U S A 102 (40), 14290-14295 (2005) PUBMED 16183747 REFERENCE 10 (residues 1 to 354) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC084073.22, AK050724.1 and DT921984.1. On Dec 14, 2007 this sequence version replaced NP_001013801.1. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..354 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 80.33 cM" Protein 1..354 /product="interferon-inducible protein AIM2" /note="ifi-210; interferon-inducible protein 210; interferon-inducible protein p210" /calculated_mol_wt=40024 Region 10..79 /region_name="Pyrin" /note="a protein-protein interaction domain; cd08305" /db_xref="CDD:260019" Region 95..124 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q91VJ1.2)" Region 156..321 /region_name="HIN" /note="HIN-200/IF120x domain; pfam02760" /db_xref="CDD:426966" CDS 1..354 /gene="Aim2" /gene_synonym="Gm1313; Ifi210" /coded_by="NM_001013779.2:455..1519" /db_xref="CCDS:CCDS15529.2" /db_xref="GeneID:383619" /db_xref="MGI:MGI:2686159" ORIGIN 1 meseyremll ltgldhitee elkrfkyfal tefqiarstl dvadrtelad hliqsagaas 61 avtkainifq klnymhiana leekkkeaer klmtntkkrg tqkvenrsqa encsaasatr 121 sdndfkeqaa tevcpqakpq kkqmvaeqea iredlqkdpl vvtvlkainp fecetqegrq 181 eifhatvate tdfffvkvln aqfkdkfipk rtikisnylw hsnfmevtss svvvdvesnh 241 evpnnvvkra retprisklk iqpcgtivng lfkvqkitee kdrvlygihd ktgtmevlvl 301 gnpsktkcee gdkirltffe vskngvkiql ksgpcsffkv ikaakpktdm ksve // LOCUS NP_001349223 508 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 19 [Mus musculus]. ACCESSION NP_001349223 VERSION NP_001349223.1 DBSOURCE REFSEQ: accession NM_001362294.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 508) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 508) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 508) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 508) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 508) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 508) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 508) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 508) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 508) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 508) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.190033.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..508 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..508 /product="CUGBP Elav-like family member 4 isoform 19" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53813 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" CDS 1..508 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362294.1:531..2057" /note="isoform 19 is encoded by transcript variant 25" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregrhp 421 vpsrcqapsc qggqcaisss arrlrelrqp gqrtdrhpgh erlpdrheea qgaaeaaqrr 481 qspvlsaggs vprgrpglaq grmlnglh // LOCUS NP_766481 711 aa linear ROD 09-OCT-2023 DEFINITION protein mono-ADP-ribosyltransferase PARP12 [Mus musculus]. ACCESSION NP_766481 VERSION NP_766481.2 DBSOURCE REFSEQ: accession NM_172893.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 711) AUTHORS Kerr CM, Parthasarathy S, Schwarting N, O'Connor JJ, Pfannenstiel JJ, Giri E, More S, Orozco RC and Fehr AR. TITLE PARP12 is required to repress the replication of a Mac1 mutant coronavirus in a cell- and tissue-specific manner JOURNAL J Virol 97 (9), e0088523 (2023) PUBMED 37695054 REMARK GeneRIF: PARP12 is required to repress the replication of a Mac1 mutant coronavirus in a cell- and tissue-specific manner. REFERENCE 2 (residues 1 to 711) AUTHORS Cao G, Guo R, Chen M, Sun C and Wang J. TITLE PARP12 regulates mouse oocyte meiotic maturation JOURNAL J Cell Physiol 238 (7), 1580-1591 (2023) PUBMED 37305966 REMARK GeneRIF: PARP12 regulates mouse oocyte meiotic maturation. REFERENCE 3 (residues 1 to 711) AUTHORS Li L, Zhao H, Liu P, Li C, Quanquin N, Ji X, Sun N, Du P, Qin CF, Lu N and Cheng G. TITLE PARP12 suppresses Zika virus infection through PARP-dependent degradation of NS1 and NS3 viral proteins JOURNAL Sci Signal 11 (535) (2018) PUBMED 29921658 REMARK GeneRIF: To screen for antiviral IFN-stimulated genes that restricted Zika virus replication, and identified PARP12 as a strong inhibitor of Zika virus replication. Findings suggest that PARP12 mediated the ADP-ribosylation of NS1 and NS3, nonstructural viral proteins that are involved in viral replication and modulating host defense responses. Publication Status: Online-Only REFERENCE 4 (residues 1 to 711) AUTHORS Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M and Murray SA. CONSRTM International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center TITLE High-throughput discovery of novel developmental phenotypes JOURNAL Nature 537 (7621), 508-514 (2016) PUBMED 27626380 REMARK Erratum:[Nature. 2017 Nov 16;551(7680):398. PMID: 29144450] REFERENCE 5 (residues 1 to 711) AUTHORS Welsby I, Hutin D, Gueydan C, Kruys V, Rongvaux A and Leo O. TITLE PARP12, an interferon-stimulated gene involved in the control of protein translation and inflammation JOURNAL J Biol Chem 289 (38), 26642-26657 (2014) PUBMED 25086041 REMARK GeneRIF: PARP12 is an interferon-induced gene with a potential role in cellular defenses against viral infections. REFERENCE 6 (residues 1 to 711) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 REFERENCE 7 (residues 1 to 711) AUTHORS Guo G, Huss M, Tong GQ, Wang C, Li Sun L, Clarke ND and Robson P. TITLE Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst JOURNAL Dev Cell 18 (4), 675-685 (2010) PUBMED 20412781 REFERENCE 8 (residues 1 to 711) AUTHORS Bailey PJ, Klos JM, Andersson E, Karlen M, Kallstrom M, Ponjavic J, Muhr J, Lenhard B, Sandelin A and Ericson J. TITLE A global genomic transcriptional code associated with CNS-expressed genes JOURNAL Exp Cell Res 312 (16), 3108-3119 (2006) PUBMED 16919269 REFERENCE 9 (residues 1 to 711) AUTHORS Katoh M and Katoh M. TITLE Identification and characterization of human TIPARP gene within the CCNL amplicon at human chromosome 3q25.31 JOURNAL Int J Oncol 23 (2), 541-547 (2003) PUBMED 12851707 REFERENCE 10 (residues 1 to 711) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK036886.1, BC120733.1 and BC048927.1. On Apr 1, 2008 this sequence version replaced NP_766481.1. ##Evidence-Data-START## Transcript exon combination :: AK036886.1, AK156623.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..711 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 17.85 cM" Protein 1..711 /product="protein mono-ADP-ribosyltransferase PARP12" /EC_number="2.4.2.30" /note="zinc finger CCCH type domain containing 1; poly ADP-ribose polymerase 12; poly [ADP-ribose] polymerase 12; zinc finger CCCH domain-containing protein 1; ADP-ribosyltransferase diphtheria toxin-like 12" /calculated_mol_wt=79786 Region 186..208 /region_name="ZnF_C3H1" /note="zinc finger; smart00356" /db_xref="CDD:214632" Region 247..279 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8BZ20.3)" Site 268 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q8BZ20.3)" Region 309..382 /region_name="WWE" /note="WWE domain; cl02729" /db_xref="CDD:445899" Region 387..468 /region_name="WWE" /note="WWE domain; pfam02825" /db_xref="CDD:427006" Region 571..687 /region_name="TCCD_inducible_PARP_like" /note="Poly(ADP-ribose) polymerases catalyse the covalent attachment of ADP-ribose units from NAD+ to itself and to a limited number of other DNA binding proteins, which decreases their affinity for DNA. Poly(ADP-ribose) polymerase is a regulatory component...; cd01439" /db_xref="CDD:238719" Site order(573..577,580,584,588..590,592,605..607,617,670) /site_type="other" /note="nad+ binding pocket [chemical binding]" /db_xref="CDD:238719" CDS 1..711 /gene="Parp12" /gene_synonym="9930021O16; ARTD12; PARP-12; Zc3hdc1" /coded_by="NM_172893.3:191..2326" /db_xref="CCDS:CCDS20019.1" /db_xref="GeneID:243771" /db_xref="MGI:MGI:2143990" ORIGIN 1 maqaavavae vtqllcaagg alelaelrrr lrtslgtdal erllrdcgrf vvasravvav 61 gagreaaaaa serlvlavss lrlcrahqgp kpgctglcaq lhlckfliyg nckflktgkn 121 crnghnlktd hnlsvlrthg vdhltytelc qlllqndpsl lpdiclhynk gdgpfgscsf 181 qkqciklhic qyflqgeckf gtsckrshef tnsesleqle rlglssdlvs rllstyrnay 241 diknkgsals kvspspagpq gsserkdssg pvspgtpsqe eseqiclyhi rkscsfqekc 301 hrvhfhlpyr wqfldggkwk dldnmeliee aysnpskdri vytesaagfh fdnldfnsmk 361 fgntlarrls tassvtkpph filttdwiwy wmdefgswqe ygrqgsghpv ttisssdver 421 aylafcapga daqaatlkfq agkhnyelhf kaflqknlvy gtirkvcrrp kyvspqdvqm 481 kqscntklhg pksipdywdp aalpdlgfkk itlsssseey qkvwnifnrt lpfyfvqkie 541 riqnmglwev yqwqkcqmqk qnggkevder qlfhgtsanf vdaicqqnfd wrvcglhgts 601 ygkgsyfard aayshhysks dthshmmfla rvlvgdfvrg stsfvrppak egqsnafyds 661 cvnsmsdpti fvvfekhqvy peyliqysts skppaspsif valgnlftsr q // LOCUS NP_444352 175 aa linear ROD 09-OCT-2023 DEFINITION mitochondrial inner membrane protease subunit 2 [Mus musculus]. ACCESSION NP_444352 VERSION NP_444352.2 DBSOURCE REFSEQ: accession NM_053122.5 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 175) AUTHORS Lawther AJ, Zieba J, Fang Z, Furlong TM, Conn I, Govindaraju H, Choong LLY, Turner N, Siddiqui KS, Bridge W, Merlin S, Hyams TC, Killingsworth M, Eapen V, Clarke RA and Walker AK. TITLE Antioxidant Behavioural Phenotype in the Immp2l Gene Knock-Out Mouse JOURNAL Genes (Basel) 14 (9), 1717 (2023) PUBMED 37761857 REMARK GeneRIF: Antioxidant Behavioural Phenotype in the Immp2l Gene Knock-Out Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 175) AUTHORS Leung BK, Merlin S, Walker AK, Lawther AJ, Paxinos G, Eapen V, Clarke R, Balleine BW and Furlong TM. TITLE Immp2l knockdown in male mice increases stimulus-driven instrumental behaviour but does not alter goal-directed learning or neuron density in cortico-striatal circuits in a model of Tourette syndrome and autism spectrum disorder JOURNAL Behav Brain Res 452, 114610 (2023) PUBMED 37541448 REMARK GeneRIF: Immp2l knockdown in male mice increases stimulus-driven instrumental behaviour but does not alter goal-directed learning or neuron density in cortico-striatal circuits in a model of Tourette syndrome and autism spectrum disorder. REFERENCE 3 (residues 1 to 175) AUTHORS Ma Y, Liang RM, Ma N, Mi XJ, Cheng ZY, Zhang ZJ, Lu BS and Li PA. TITLE Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice JOURNAL Curr Med Sci 43 (3), 478-488 (2023) PUBMED 37243806 REMARK GeneRIF: Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice. REFERENCE 4 (residues 1 to 175) AUTHORS Regue L, Wang W, Ji F, Avruch J, Wang H and Dai N. TITLE Human T2D-Associated Gene IMP2/IGF2BP2 Promotes the Commitment of Mesenchymal Stem Cells Into Adipogenic Lineage JOURNAL Diabetes 72 (1), 33-44 (2023) PUBMED 36219823 REMARK GeneRIF: Human T2D-Associated Gene IMP2/IGF2BP2 Promotes the Commitment of Mesenchymal Stem Cells Into Adipogenic Lineage. REFERENCE 5 (residues 1 to 175) AUTHORS Peng T, Liu M, Hu L, Guo D, Wang D, Qi B, Ren G, Hu C, Zhang F, Chun HJ, Song L, Hu J and Li Y. TITLE LncRNA Airn alleviates diabetic cardiac fibrosis by inhibiting activation of cardiac fibroblasts via a m6A-IMP2-p53 axis JOURNAL Biol Direct 17 (1), 32 (2022) PUBMED 36384975 REMARK GeneRIF: LncRNA Airn alleviates diabetic cardiac fibrosis by inhibiting activation of cardiac fibroblasts via a m6A-IMP2-p53 axis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 175) AUTHORS Qian J, Dong Y, Pang YY, Ibrahim R, Berzofsky JA, Schiller JT and Khleif SN. TITLE Combined prophylactic and therapeutic cancer vaccine: enhancing CTL responses to HPV16 E2 using a chimeric VLP in HLA-A2 mice JOURNAL Int J Cancer 118 (12), 3022-3029 (2006) PUBMED 16425257 REFERENCE 7 (residues 1 to 175) AUTHORS Burri L, Strahm Y, Hawkins CJ, Gentle IE, Puryer MA, Verhagen A, Callus B, Vaux D and Lithgow T. TITLE Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane JOURNAL Mol Biol Cell 16 (6), 2926-2933 (2005) PUBMED 15814844 REFERENCE 8 (residues 1 to 175) AUTHORS Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM and Wagner K. TITLE Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome JOURNAL Am J Hum Genet 68 (4), 848-858 (2001) PUBMED 11254443 REFERENCE 9 (residues 1 to 175) AUTHORS Colella TA, Bullock TN, Russell LB, Mullins DW, Overwijk WW, Luckey CJ, Pierce RA, Restifo NP and Engelhard VH. TITLE Self-tolerance to the murine homologue of a tyrosinase-derived melanoma antigen: implications for tumor immunotherapy JOURNAL J Exp Med 191 (7), 1221-1232 (2000) PUBMED 10748239 REFERENCE 10 (residues 1 to 175) AUTHORS Newberg MH, Smith DH, Haertel SB, Vining DR, Lacy E and Engelhard VH. TITLE Importance of MHC class 1 alpha2 and alpha3 domains in the recognition of self and non-self MHC molecules JOURNAL J Immunol 156 (7), 2473-2480 (1996) PUBMED 8786307 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153793.4, AC240395.3, AC124826.8 and AC123620.14. On Jun 19, 2003 this sequence version replaced NP_444352.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC061049.1, CB596676.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..175 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 18.69 cM" Protein 1..175 /product="mitochondrial inner membrane protease subunit 2" /note="IMP2-like protein; AAD mice" /calculated_mol_wt=19470 Site 19..37 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BPT6.1)" Region 36..146 /region_name="S26_SPase_I" /note="The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are...; cd06530" /db_xref="CDD:119398" Site order(43,91) /site_type="active" /note="Catalytic site [active]" /db_xref="CDD:119398" CDS 1..175 /gene="Immp2l" /gene_synonym="IMP2; Tg(HLA-A/H2-D)2Enge" /coded_by="NM_053122.5:132..659" /db_xref="CCDS:CCDS83961.1" /db_xref="GeneID:93757" /db_xref="MGI:MGI:2135611" ORIGIN 1 maqsqswarr cfkafckgff vavpvavtfl drvacvarve gssmqpslnp ggsqssdvvl 61 lnhwkvrnfe vqrgdivslv spknpeqkii krvialegdi vrtighknrl vkvprghmwv 121 egdhhghsfd snsfgpvslg llhahathil wpperwqrle svlppercpl qtgek // LOCUS NP_001396831 147 aa linear ROD 09-OCT-2023 DEFINITION allograft inflammatory factor 1 isoform a [Mus musculus]. ACCESSION NP_001396831 VERSION NP_001396831.1 DBSOURCE REFSEQ: accession NM_001409902.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 147) AUTHORS Altounian M, Bellon A and Mann F. TITLE Neuronal miR-17-5p contributes to interhemispheric cortical connectivity defects induced by prenatal alcohol exposure JOURNAL Cell Rep 42 (9), 113020 (2023) PUBMED 37610874 REFERENCE 2 (residues 1 to 147) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 3 (residues 1 to 147) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 147) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 147) AUTHORS Waldhauser V, Baroti T, Frob F and Wegner M. TITLE PBAF Subunit Pbrm1 Selectively Influences the Transition from Progenitors to Pre-Myelinating Cells during Oligodendrocyte Development JOURNAL Cells 12 (12), 1556 (2023) PUBMED 37371026 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 147) AUTHORS Sasaki Y, Ohsawa K, Kanazawa H, Kohsaka S and Imai Y. TITLE Iba1 is an actin-cross-linking protein in macrophages/microglia JOURNAL Biochem Biophys Res Commun 286 (2), 292-297 (2001) PUBMED 11500035 REFERENCE 7 (residues 1 to 147) AUTHORS Ohsawa K, Imai Y, Kanazawa H, Sasaki Y and Kohsaka S. TITLE Involvement of Iba1 in membrane ruffling and phagocytosis of macrophages/microglia JOURNAL J Cell Sci 113 (Pt 17), 3073-3084 (2000) PUBMED 10934045 REFERENCE 8 (residues 1 to 147) AUTHORS Allcock RJ, Martin AM and Price P. TITLE The mouse as a model for the effects of MHC genes on human disease JOURNAL Immunol Today 21 (7), 328-332 (2000) PUBMED 10871872 REMARK Review article REFERENCE 9 (residues 1 to 147) AUTHORS Handel-Fernandez ME, Kurimoto I, Streilein JW and Vincek V. TITLE Genetic mapping and physical cloning of UVB susceptibility region in mice JOURNAL J Invest Dermatol 113 (2), 224-229 (1999) PUBMED 10469308 REFERENCE 10 (residues 1 to 147) AUTHORS Lund T, Shaikh S, Kendall E, Campbell RD, Hattori M, Makino S and Cooke A. TITLE RFLP analysis of the MHC class III region defines unique haplotypes for the non-obese diabetic, cataract Shionogi and the non-obese non-diabetic mouse strains JOURNAL Diabetologia 36 (8), 727-733 (1993) PUBMED 8104833 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR974444.18. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC021539.1, BI685218.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..147 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 18.59 cM" Protein 1..147 /product="allograft inflammatory factor 1 isoform a" /note="testis specific; ionized calcium binding adapter molecule 1" /calculated_mol_wt=16779 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P81076; propagated from UniProtKB/Swiss-Prot (O70200.1)" Site 11 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P55008; propagated from UniProtKB/Swiss-Prot (O70200.1)" Region <48..113 /region_name="PTZ00184" /note="calmodulin; Provisional" /db_xref="CDD:185504" Region 128..147 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O70200.1)" CDS 1..147 /gene="Aif1" /gene_synonym="AIF-1; D17H6S50E; G1; Iba1" /coded_by="NM_001409902.1:91..534" /note="isoform a is encoded by transcript variant 5" /db_xref="GeneID:11629" /db_xref="MGI:MGI:1343098" ORIGIN 1 msqsrdlqgg kafgllkaqq eerleginkq flddpkysnd edlpskleaf kvkymefdln 61 gngdidimsl krmleklgvp kthlelkrli revssgseet fsysdflrmm lgkrsailrm 121 ilmyeeknke hkrptgppak kaiselp // LOCUS NP_033309 749 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 1 isoform 2 [Mus musculus]. ACCESSION NP_033309 VERSION NP_033309.3 DBSOURCE REFSEQ: accession NM_009283.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 749) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 749) AUTHORS Clark DN, O'Neil SM, Xu L, Steppe JT, Savage JT, Raghunathan K and Filiano AJ. TITLE Prolonged STAT1 activation in neurons drives a pathological transcriptional response JOURNAL J Neuroimmunol 382, 578168 (2023) PUBMED 37556887 REMARK GeneRIF: Prolonged STAT1 activation in neurons drives a pathological transcriptional response. REFERENCE 3 (residues 1 to 749) AUTHORS Imitola J, Hollingsworth EW, Watanabe F, Olah M, Elyaman W, Starossom S, Kivisakk P and Khoury SJ. TITLE Stat1 is an inducible transcriptional repressor of neural stem cells self-renewal program during neuroinflammation JOURNAL Front Cell Neurosci 17, 1156802 (2023) PUBMED 37663126 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 749) AUTHORS Han W, Pu H, Li S, Liu Y, Zhao Y, Xu M, Chen C, Wu Y, Yang T, Ye Q, Wang H, Stetler RA, Chen J and Shi Y. TITLE Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke JOURNAL J Neuroinflammation 20 (1), 178 (2023) PUBMED 37516843 REMARK GeneRIF: Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke. Publication Status: Online-Only REFERENCE 5 (residues 1 to 749) AUTHORS Largent AD, Lambert K, Chiang K, Shumlak N, Liggitt D, Oukka M, Torgerson TR, Buckner JH, Allenspach EJ, Rawlings DJ and Jackson SW. TITLE Dysregulated IFN-gamma signals promote autoimmunity in STAT1 gain-of-function syndrome JOURNAL Sci Transl Med 15 (703), eade7028 (2023) PUBMED 37406138 REFERENCE 6 (residues 1 to 749) AUTHORS Novak U, Harpur AG, Paradiso L, Kanagasundaram V, Jaworowski A, Wilks AF and Hamilton JA. TITLE Colony-stimulating factor 1-induced STAT1 and STAT3 activation is accompanied by phosphorylation of Tyk2 in macrophages and Tyk2 and JAK1 in fibroblasts JOURNAL Blood 86 (8), 2948-2956 (1995) PUBMED 7579387 REFERENCE 7 (residues 1 to 749) AUTHORS Finidori J and Kelly PA. TITLE Cytokine receptor signalling through two novel families of transducer molecules: Janus kinases, and signal transducers and activators of transcription JOURNAL J Endocrinol 147 (1), 11-23 (1995) PUBMED 7490523 REMARK Review article REFERENCE 8 (residues 1 to 749) AUTHORS Harroch S, Gothelf Y, Revel M and Chebath J. TITLE 5' upstream sequences of MyD88, an IL-6 primary response gene in M1 cells: detection of functional IRF-1 and Stat factors binding sites JOURNAL Nucleic Acids Res 23 (17), 3539-3546 (1995) PUBMED 7567467 REFERENCE 9 (residues 1 to 749) AUTHORS Matsuda T and Hirano T. TITLE Association of p72 tyrosine kinase with Stat factors and its activation by interleukin-3, interleukin-6, and granulocyte colony-stimulating factor JOURNAL Blood 83 (12), 3457-3461 (1994) PUBMED 7515712 REFERENCE 10 (residues 1 to 749) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK039458.1, AK082706.1, AC123752.8, BC042551.1 and BX513160.1. On Sep 14, 2006 this sequence version replaced NP_033309.2. Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Variants 2, 3, and 4 encode the same isoform. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK082706.1, AK159887.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..749 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.81 cM" Protein 1..749 /product="signal transducer and activator of transcription 1 isoform 2" /calculated_mol_wt=87184 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 114 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 138..313 /region_name="STAT1_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16851" /db_xref="CDD:341076" Site order(164..165,168..169,172,175..176,179,232,236,239..241, 243..244,256..257,259..260,263..264,267,271,274,306, 309..311) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:341076" Site 175 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(239..241,243..244,256..257,260,263..264,267,271,274, 302,306,309..310) /site_type="other" /note="CCD-DBD interface [polypeptide binding]" /db_xref="CDD:341076" Site 296 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 317..477 /region_name="STAT1_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16845" /db_xref="CDD:341083" Site order(336,340,378,411,413,426..427,459..460,463) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341083" Site 366 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 525 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 557..707 /region_name="SH2_STAT1" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins; cd10372" /db_xref="CDD:198235" Site order(584,602,630,632) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site order(631,647) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site 637 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(641..642,706) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198235" Site 665 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 701 /site_type="phosphorylation" /note="Phosphotyrosine, by JAK1, JAK2 or TYK2. /evidence=ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 708 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000269|PubMed:17332413, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 715..739 /region_name="STAT1_TAZ2bind" /note="STAT1 TAZ2 binding domain; pfam12162" /db_xref="CDD:432372" Site 724 /site_type="other" /note="Required for recruitment of EP300/p300. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 727 /site_type="phosphorylation" /note="Phosphoserine, by CaMK2 and MAPK14. /evidence=ECO:0000269|PubMed:11972023, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 744 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000305|PubMed:17332413; propagated from UniProtKB/Swiss-Prot (P42225.1)" CDS 1..749 /gene="Stat1" /gene_synonym="2010005J02Rik" /coded_by="NM_009283.4:351..2600" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS56628.1" /db_xref="GeneID:20846" /db_xref="MGI:MGI:103063" ORIGIN 1 msqwfelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaaydv sfatirfhdl 61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpvq msmiiynclk eerkilenaq 121 rfnqaqegni qntvmldkqk eldskvrnvk dqvmcieqei ktleelqdey dfkcktsqnr 181 egeangvaks dqkqeqlllh kmflmldnkr keiihkirel lnsieltqnt lindelvewk 241 rrqqsacigg ppnacldqlq swftivaetl qqirqqlkkl eeleqkftye pdpitknkqv 301 lsdrtfllfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv 361 kvsfdkdvne kntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagnrtn 421 egplivteel hslsfetqlc qpglvidlet tslpvvvisn vsqlpsgwas ilwynmlvte 481 prnlsfflnp pcawwsqlse vlswqfssvt krglnadqls mlgekllgpn agpdglipwt 541 rfckenindk nfsfwpwidt ilelikkhll clwndgcimg fiskereral lkdqqpgtfl 601 lrfsessreg aitftwvers qnggepdfha vepytkkels avtfpdiirn ykvmaaenip 661 enplkylypn idkdhafgky ysrpkeapep melddpkrtg yiktelisvs evhpsrlqtt 721 dnllpmspee fdemsrivgp efdsmmstv // LOCUS NP_001305031 478 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 1x [Mus musculus]. ACCESSION NP_001305031 VERSION NP_001305031.1 DBSOURCE REFSEQ: accession NM_001318102.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 478) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 478) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 478) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 478) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 478) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 478) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 478) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 478) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 478) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 478) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK082242.1, BC046625.1, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1, also know as JNK3 alpha1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), the location of the upstream UGA stop codon in the longer isoform is denoted by an 'X'. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219379.4978.1, BC046625.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## stop codon readthrough :: inferred from conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..478 /product="mitogen-activated protein kinase 10 isoform 1x" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=53904 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..478 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001318102.1:567..2003" /note="isoform 1x is encoded by transcript variant 1" /db_xref="CCDS:CCDS89959.1" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsgaa 421 vnsseslpps ssvndissms tdqtlasdtd ssleasagpl gccrxlaacl rnpaffrr // LOCUS NP_083281 464 aa linear ROD 09-OCT-2023 DEFINITION mixed lineage kinase domain-like protein isoform 2 [Mus musculus]. ACCESSION NP_083281 XP_001003995 XP_001003998 XP_356104 XP_900120 XP_922053 XP_929682 VERSION NP_083281.1 DBSOURCE REFSEQ: accession NM_029005.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 464) AUTHORS Garnish SE, Martin KR, Kauppi M, Jackson VE, Ambrose R, Eng VV, Chiou S, Meng Y, Frank D, Tovey Crutchfield EC, Patel KM, Jacobsen AV, Atkin-Smith GK, Di Rago L, Doerflinger M, Horne CR, Hall C, Young SN, Cook M, Athanasopoulos V, Vinuesa CG, Lawlor KE, Wicks IP, Ebert G, Ng AP, Slade CA, Pearson JS, Samson AL, Silke J, Murphy JM and Hildebrand JM. TITLE A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation JOURNAL Nat Commun 14 (1), 6046 (2023) PUBMED 37770424 REMARK GeneRIF: A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation. Publication Status: Online-Only REFERENCE 2 (residues 1 to 464) AUTHORS Wang S and Xu M. TITLE RIP3/MLKL regulates necroptosis via activating 4EBP1-eIF4E pathway JOURNAL Zhong Nan Da Xue Xue Bao Yi Xue Ban 48 (7), 979-985 (2023) PUBMED 37724400 REMARK GeneRIF: RIP3/MLKL regulates necroptosis via activating 4EBP1-eIF4E pathway. REFERENCE 3 (residues 1 to 464) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 464) AUTHORS Yan M, Li H, Xu S, Wu J, Li J, Xiao C, Mo C and Ding BS. TITLE Targeting Endothelial Necroptosis Disrupts Profibrotic Endothelial-Hepatic Stellate Cells Crosstalk to Alleviate Liver Fibrosis in Nonalcoholic Steatohepatitis JOURNAL Int J Mol Sci 24 (14), 11313 (2023) PUBMED 37511074 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 464) AUTHORS Vucur M, Ghallab A, Schneider AT, Adili A, Cheng M, Castoldi M, Singer MT, Buttner V, Keysberg LS, Kusgens L, Kohlhepp M, Gorg B, Gallage S, Barragan Avila JE, Unger K, Kordes C, Leblond AL, Albrecht W, Loosen SH, Lohr C, Jordens MS, Babler A, Hayat S, Schumacher D, Koenen MT, Govaere O, Boekschoten MV, Jors S, Villacorta-Martin C, Mazzaferro V, Llovet JM, Weiskirchen R, Kather JN, Starlinger P, Trauner M, Luedde M, Heij LR, Neumann UP, Keitel V, Bode JG, Schneider RK, Tacke F, Levkau B, Lammers T, Fluegen G, Alexandrov T, Collins AL, Nelson G, Oakley F, Mann DA, Roderburg C, Longerich T, Weber A, Villanueva A, Samson AL, Murphy JM, Kramann R, Geisler F, Costa IG, Hengstler JG, Heikenwalder M and Luedde T. TITLE Sublethal necroptosis signaling promotes inflammation and liver cancer JOURNAL Immunity 56 (7), 1578-1595 (2023) PUBMED 37329888 REFERENCE 6 (residues 1 to 464) AUTHORS Wu J, Huang Z, Ren J, Zhang Z, He P, Li Y, Ma J, Chen W, Zhang Y, Zhou X, Yang Z, Wu SQ, Chen L and Han J. TITLE Mlkl knockout mice demonstrate the indispensable role of Mlkl in necroptosis JOURNAL Cell Res 23 (8), 994-1006 (2013) PUBMED 23835476 REMARK GeneRIF: Neither Mlkl nor Rip3 deficiency provided protection against polymicrobial sepsis-induced animal death in the study of septic shock induced by CLP. REFERENCE 7 (residues 1 to 464) AUTHORS Chen W, Zhou Z, Li L, Zhong CQ, Zheng X, Wu X, Zhang Y, Ma H, Huang D, Li W, Xia Z and Han J. TITLE Diverse sequence determinants control human and mouse receptor interacting protein 3 (RIP3) and mixed lineage kinase domain-like (MLKL) interaction in necroptotic signaling JOURNAL J Biol Chem 288 (23), 16247-16261 (2013) PUBMED 23612963 REMARK GeneRIF: the importance of the RIP3-MLKL interaction in the formation of functional necrosomes and suggest that translocation of necrosomes to mitochondria-associated membranes is essential for necroptosis signaling. REFERENCE 8 (residues 1 to 464) AUTHORS Zhao J, Jitkaew S, Cai Z, Choksi S, Li Q, Luo J and Liu ZG. TITLE Mixed lineage kinase domain-like is a key receptor interacting protein 3 downstream component of TNF-induced necrosis JOURNAL Proc Natl Acad Sci U S A 109 (14), 5322-5327 (2012) PUBMED 22421439 REFERENCE 9 (residues 1 to 464) AUTHORS Sun L, Wang H, Wang Z, He S, Chen S, Liao D, Wang L, Yan J, Liu W, Lei X and Wang X. TITLE Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase JOURNAL Cell 148 (1-2), 213-227 (2012) PUBMED 22265413 REMARK GeneRIF: Findings implicate MLKL as a key mediator of necrosis signaling downstream of the kinase RIP3. REFERENCE 10 (residues 1 to 464) AUTHORS Bisson N, Tremblay M, Robinson F, Kaplan DR, Trusko SP and Moss T. TITLE Mice lacking both mixed-lineage kinase genes Mlk1 and Mlk2 retain a wild type phenotype JOURNAL Cell Cycle 7 (7), 909-916 (2008) PUBMED 18414056 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC163625.5, BY740989.1, AK018636.1 and BY467591.1. On or before Jul 24, 2006 this sequence version replaced XP_356104.3, XP_900120.1, XP_929682.1, XP_922053.1, XP_001003998.1, XP_001003995.1. Summary: This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to lack protein kinase activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (Rip3), which is a key signaling molecule in necroptosis pathway. Knockout of this gene in mice showed that it is essential for necroptosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC023755.1, AK170260.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..464 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 57.98 cM" Protein 1..464 /product="mixed lineage kinase domain-like protein isoform 2" /note="mixed lineage kinase domain-like protein" /calculated_mol_wt=53244 Region 1..143 /region_name="N-terminal bundle and brace (NBB), mediates INSP6 binding. /evidence=ECO:0000250|UniProtKB:Q8NB16" /note="propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Region 5..143 /region_name="MLKL_NTD" /note="N-terminal domain of mixed lineage kinase domain-like protein (MLKL) and similar proteins; cd21037" /db_xref="CDD:411030" Site 124 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8NB16; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Region 130..>179 /region_name="COG7" /note="Golgi complex component 7 (COG7); pfam10191" /db_xref="CDD:431125" Region 198..454 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Site 345 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 347 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 349 /site_type="phosphorylation" /note="Phosphothreonine, by RIPK3. /evidence=ECO:0000269|PubMed:24012422, ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" Site 352 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3. /evidence=ECO:0000269|PubMed:24095729; propagated from UniProtKB/Swiss-Prot (Q9D2Y4.1)" CDS 1..464 /gene="Mlkl" /gene_synonym="9130019I15Rik" /coded_by="NM_029005.3:385..1779" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS52671.1" /db_xref="GeneID:74568" /db_xref="MGI:MGI:1921818" ORIGIN 1 mdklgqiikl gqliyeqcek mkycrkqcqr lgnrvhgllq plqrlqaqgk knlpdditaa 61 lgrfdevlke anqqiekfsk kshiwkfvsv gndkilfhev neklrdvwee lllllqvyhw 121 ntvsdvsqpa swqqedrqda eedgnenmkv ilmqlqisve einktlkqcs lkptqeipqd 181 lqikeipkeh lgppwtklkt skmstiyrge yhrspvtikv fnnpqaesvg ivrftfndei 241 ktmkkfdspn ilrifgicid qtvkppefsi vmeycelgtl relldrekdl tmsvrsllvl 301 raarglyrlh hsetlhrnis sssflvaggy qvklagfels ktqnsisrta kstkaersss 361 tiyvsperlk npfclydika eiysfgivlw eiatgkipfe gcdskkirel vaedkkqepv 421 gqdcpellre iinecrahep sqrpsvdgil erlsaveest dkkv // LOCUS NP_001277656 431 aa linear ROD 09-OCT-2023 DEFINITION AT-rich interactive domain-containing protein 5A isoform 6 [Mus musculus]. ACCESSION NP_001277656 XP_006495915 VERSION NP_001277656.1 DBSOURCE REFSEQ: accession NM_001290727.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 431) AUTHORS Li X, Hua S, Fang D, Fei X, Tan Z, Zheng F, Wang W and Fang M. TITLE RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice JOURNAL Clin Exp Med 23 (6), 2167-2179 (2023) PUBMED 36454447 REMARK GeneRIF: RAGE deficiency ameliorates autoimmune hepatitis involving inhibition of IL-6 production via suppressing protein Arid5a in mice. REFERENCE 2 (residues 1 to 431) AUTHORS Taylor TC, Li Y, Li DD, Majumder S, McGeachy MJ, Biswas PS, Gingras S and Gaffen SL. TITLE Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense JOURNAL J Immunol 209 (6), 1138-1145 (2022) PUBMED 35940634 REMARK GeneRIF: Arid5a Mediates an IL-17-Dependent Pathway That Drives Autoimmunity but Not Antifungal Host Defense. REFERENCE 3 (residues 1 to 431) AUTHORS Catela C, Chen Y, Weng Y, Wen K and Kratsios P. TITLE Control of spinal motor neuron terminal differentiation through sustained Hoxc8 gene activity JOURNAL Elife 11, e70766 (2022) PUBMED 35315772 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 431) AUTHORS Nyati KK, Hashimoto S, Singh SK, Tekguc M, Metwally H, Liu YC, Okuzaki D, Gemechu Y, Kang S and Kishimoto T. TITLE The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway JOURNAL Cancer Lett 520, 295-306 (2021) PUBMED 34389433 REMARK GeneRIF: The novel long noncoding RNA AU021063, induced by IL-6/Arid5a signaling, exacerbates breast cancer invasion and metastasis by stabilizing Trib3 and activating the Mek/Erk pathway. REFERENCE 5 (residues 1 to 431) AUTHORS Chalise JP, Hashimoto S, Parajuli G, Kang S, Singh SK, Gemechu Y, Metwally H, Nyati KK, Dubey PK, Zaman MM, Nagahama Y, Hamza H, Masuda K and Kishimoto T. TITLE Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis JOURNAL Proc Natl Acad Sci U S A 116 (30), 15128-15133 (2019) PUBMED 31289228 REMARK GeneRIF: Feedback regulation of Arid5a and Ppar-gamma2 maintains adipose tissue homeostasis. REFERENCE 6 (residues 1 to 431) AUTHORS Zaman MM, Masuda K, Nyati KK, Dubey PK, Ripley B, Wang K, Chalise JP, Higa M, Hanieh H and Kishimoto T. TITLE Arid5a exacerbates IFN-gamma-mediated septic shock by stabilizing T-bet mRNA JOURNAL Proc Natl Acad Sci U S A 113 (41), 11543-11548 (2016) PUBMED 27671645 REMARK GeneRIF: Arid5a deficiency resulted in decreased levels of IFN-gamma under Th1 cell conditions, in which T-box expressed in T cells (T-bet) mRNA expression was inhibited. REFERENCE 7 (residues 1 to 431) AUTHORS Masuda K, Ripley B, Nyati KK, Dubey PK, Zaman MM, Hanieh H, Higa M, Yamashita K, Standley DM, Mashima T, Katahira M, Okamoto T, Matsuura Y, Takeuchi O and Kishimoto T. TITLE Arid5a regulates naive CD4+ T cell fate through selective stabilization of Stat3 mRNA JOURNAL J Exp Med 213 (4), 605-619 (2016) PUBMED 27022145 REMARK GeneRIF: T cell-intrinsic role of Arid5a on fate decisions of naive CD4(+)T cells through selective stabilization of Stat3 mRNA. REFERENCE 8 (residues 1 to 431) AUTHORS Masuda K, Ripley B, Nishimura R, Mino T, Takeuchi O, Shioi G, Kiyonari H and Kishimoto T. TITLE Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo JOURNAL Proc Natl Acad Sci U S A 110 (23), 9409-9414 (2013) PUBMED 23676272 REMARK GeneRIF: Arid5a controls IL-6 mRNA stability, which contributes to elevation of IL-6 level in vivo. REFERENCE 9 (residues 1 to 431) AUTHORS Amano K, Hata K, Muramatsu S, Wakabayashi M, Takigawa Y, Ono K, Nakanishi M, Takashima R, Kogo M, Matsuda A, Nishimura R and Yoneda T. TITLE Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription JOURNAL Mol Biol Cell 22 (8), 1300-1311 (2011) PUBMED 21346191 REMARK GeneRIF: AT-rich interactive domain-containing protein 5a (Arid5a) cooperates with Sox9 to stimulate chondrocyte-specific transcription. REFERENCE 10 (residues 1 to 431) AUTHORS Wilsker D, Probst L, Wain HM, Maltais L, Tucker PW and Moran E. TITLE Nomenclature of the ARID family of DNA-binding proteins JOURNAL Genomics 86 (2), 242-251 (2005) PUBMED 15922553 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY196834.1, CX209955.1, AK149839.1 and AK029237.1. On Mar 19, 2014 this sequence version replaced XP_006495915.1. Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded protein (isoform 6) has a shorter N-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.2348202.1, CX209955.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..431 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 15.2 cM" Protein 1..431 /product="AT-rich interactive domain-containing protein 5A isoform 6" /note="AT rich interactive domain 5A (Mrf1 like); modulator recognition factor I; AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like)" /calculated_mol_wt=45715 CDS 1..431 /gene="Arid5a" /gene_synonym="D430024K22Rik; Mrf1" /coded_by="NM_001290727.1:454..1749" /note="isoform 6 is encoded by transcript variant 6" /db_xref="CCDS:CCDS69878.1" /db_xref="GeneID:214855" /db_xref="MGI:MGI:2443039" ORIGIN 1 makelrgddg tteklkkakd seerrveqtt pgktksdatg qtqlpcqgss rdsteqlgpv 61 sgpsppltga sscpeaykrl lssfyckgah gimsplakkk llaqvskaea lqcqeegcrh 121 garspnkdiq dspqnlrgpa ensehqltpr eglqapggst rmeaqvgpcp tapmfsgcfh 181 ayptevlkpv sqhprdffsg lkdrvllgpp gkeegpttke shlvwggdan hpsafhkgst 241 rkrsfypkpk acwvspmakv pterpgapsp hpsspglgsk rgleeegfah ggkklravsp 301 flkevdsket ggkpaapgla vscllgptpg ptppeayrgt mlrcplnftg sadplkgqas 361 lpfsplvipa fpahllattg sspmaaslmh fpptpydavl rnrlgpassa whmppvttya 421 aphffhlntk l // LOCUS NP_001349214 533 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 11 [Mus musculus]. ACCESSION NP_001349214 VERSION NP_001349214.1 DBSOURCE REFSEQ: accession NM_001362285.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 533) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 533) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 533) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 533) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 533) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 533) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 533) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 533) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 533) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 533) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.198182.1, SRR1660817.302190.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..533 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..533 /product="CUGBP Elav-like family member 4 isoform 11" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56716 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 414..>442 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..533 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362285.1:531..2132" /note="isoform 11 is encoded by transcript variant 17" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal 301 nmnglaaapm tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi 361 hpypaqspta adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl 421 liyhlpqefg daelmqmflp fgrhpvpsrc qapscqggqc aisssarrlr elrqpgqrtd 481 rhpgherlpd rheeaqgaae aaqrrqspvl saggsvprgr pglaqgrmln glh // LOCUS NP_032357 463 aa linear ROD 09-OCT-2023 DEFINITION interferon-induced protein with tetratricopeptide repeats 1 [Mus musculus]. ACCESSION NP_032357 VERSION NP_032357.2 DBSOURCE REFSEQ: accession NM_008331.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 463) AUTHORS Lu YJ, Deng YT, Ko HH, Peng HH, Lee HC, Kuo MY and Cheng SJ. TITLE Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3 JOURNAL Cancer Sci 114 (10), 3957-3971 (2023) PUBMED 37496288 REMARK GeneRIF: Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3. REFERENCE 2 (residues 1 to 463) AUTHORS Zengeler KE, Shapiro DA, Bruch KR, Lammert CR, Ennerfelt H and Lukens JR. TITLE SSRI treatment modifies the effects of maternal inflammation on in utero physiology and offspring neurobiology JOURNAL Brain Behav Immun 108, 80-97 (2023) PUBMED 36343752 REFERENCE 3 (residues 1 to 463) AUTHORS Rupani DN, Thege FI, Chandra V, Rajaei H, Cowan RW, Wormann SM, Le Roux O, Malaney P, Manning SL, Hashem J, Bailey-Lundberg J, Rhim AD and McAllister F. TITLE Adar1 deletion causes degeneration of the exocrine pancreas via Mavs-dependent interferon signaling JOURNAL Development 150 (2) (2023) PUBMED 36458554 REFERENCE 4 (residues 1 to 463) AUTHORS Jiang W, Zhang Y, Sheng Y, Liu M, Du C, Pan X, Huang C, Li J and Wang Y. TITLE Overexpression of IFIT1 protects against LPS-induced acute lung injury via regulating CCL5-p65NF-kappaB signaling JOURNAL Int Immunopharmacol 114, 109485 (2023) PUBMED 36446235 REMARK GeneRIF: Overexpression of IFIT1 protects against LPS-induced acute lung injury via regulating CCL5-p65NF-kappaB signaling. REFERENCE 5 (residues 1 to 463) AUTHORS de Reuver R, Verdonck S, Dierick E, Nemegeer J, Hessmann E, Ahmad S, Jans M, Blancke G, Van Nieuwerburgh F, Botzki A, Vereecke L, van Loo G, Declercq W, Hur S, Vandenabeele P and Maelfait J. TITLE ADAR1 prevents autoinflammation by suppressing spontaneous ZBP1 activation JOURNAL Nature 607 (7920), 784-789 (2022) PUBMED 35859175 REFERENCE 6 (residues 1 to 463) AUTHORS Williams TM, Williams ME, Kuick R, Misek D, McDonagh K, Hanash S and Innis JW. TITLE Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability JOURNAL Dev Biol 279 (2), 462-480 (2005) PUBMED 15733672 REFERENCE 7 (residues 1 to 463) AUTHORS Hui DJ, Terenzi F, Merrick WC and Sen GC. TITLE Mouse p56 blocks a distinct function of eukaryotic initiation factor 3 in translation initiation JOURNAL J Biol Chem 280 (5), 3433-3440 (2005) PUBMED 15561726 REMARK GeneRIF: block different functions of eIF3 by binding to its different subunits. REFERENCE 8 (residues 1 to 463) AUTHORS Smith JB and Herschman HR. TITLE The glucocorticoid attenuated response genes GARG-16, GARG-39, and GARG-49/IRG2 encode inducible proteins containing multiple tetratricopeptide repeat domains JOURNAL Arch Biochem Biophys 330 (2), 290-300 (1996) PUBMED 8660659 REFERENCE 9 (residues 1 to 463) AUTHORS Smith JB and Herschman HR. TITLE Glucocorticoid-attenuated response genes encode intercellular mediators, including a new C-X-C chemokine JOURNAL J Biol Chem 270 (28), 16756-16765 (1995) PUBMED 7622488 REFERENCE 10 (residues 1 to 463) AUTHORS Bluyssen HA, Vlietstra RJ, Faber PW, Smit EM, Hagemeijer A and Trapman J. TITLE Structure, chromosome localization, and regulation of expression of the interferon-regulated mouse Ifi54/Ifi56 gene family JOURNAL Genomics 24 (1), 137-148 (1994) PUBMED 7896268 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AK150424.1. On Jul 23, 2006 this sequence version replaced NP_032357.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150424.1, AK151298.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..463 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 29.78 cM" Protein 1..463 /product="interferon-induced protein with tetratricopeptide repeats 1" /note="interferon-induced 56 kDa protein; glucocorticoid-attenuated response gene 16 protein" /calculated_mol_wt=53607 Region <25..235 /region_name="PEP_TPR_lipo" /note="putative PEP-CTERM system TPR-repeat lipoprotein; TIGR02917" /db_xref="CDD:274350" Site 34 /site_type="other" /note="Interaction with PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Site 42 /site_type="other" /note="Interaction with PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 52..85 /region_name="TPR 1" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 55..86 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 91..121 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 92..126 /region_name="TPR 2" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 136..171 /region_name="TPR 3" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 136..166 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(137,140..141,144..145,147,173,176..177,180..181, 183..184,209,212..213,216..217,220) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Site 148 /site_type="other" /note="Interaction with PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region <152..>462 /region_name="PEP_TPR_lipo" /note="putative PEP-CTERM system TPR-repeat lipoprotein; TIGR02917" /db_xref="CDD:274350" Region 171..203 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 174..207 /region_name="TPR 4" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Site 184 /site_type="other" /note="Interaction with PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 208..236 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 209..241 /region_name="TPR 5" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 242..275 /region_name="TPR 6" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 242..270 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(243,246..247,250..251,253,277,280..281,284..285, 287..288,330,333..334,337..338,341) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Site 243 /site_type="other" /note="Interaction with PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 247..253 /region_name="Interaction with the 5'-triphosphate group of PPP-RNA. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 275..324 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site 281 /site_type="other" /note="Interaction with the 5'-triphosphate group of PPP-RNA. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 294..328 /region_name="TPR 7" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 329..362 /region_name="TPR 8" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 329..356 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 367..401 /region_name="TPR 9" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" Region 426..459 /region_name="TPR 10" /note="propagated from UniProtKB/Swiss-Prot (Q64282.2)" CDS 1..463 /gene="Ifit1" /gene_synonym="GARG-16; IFI-56K; Ifi56; ISG56; P56" /coded_by="NM_008331.3:95..1486" /db_xref="CCDS:CCDS29766.1" /db_xref="GeneID:15957" /db_xref="MGI:MGI:99450" ORIGIN 1 mgenadgdqv menllqlrch ftwkllfenn dipdlevris eqvqfldikn plgmhnllay 61 vrhlkgqqde alqslkeaea liqseqlskr slatwgncaw lhyhrgslae aqiyldkvek 121 vckefsspfr yrlecaemdc eegwallkcg ggnykqamac fakalkvepe npeyntgyav 181 vayrqdlddn fisleplrka vrlnpedpyl kvllalklqd lgehveaeah ieealsstsc 241 qsyviryaak yfrrkhrvdk alhllnralq aspssgylhy qkglcykqqi sqlrtsrnrq 301 prrqdnvqel aqqaihefqe tlklrptfem ayvcmaevqa eihqyeeaer nfqkalnnkt 361 lvahieqdih lrygrflqfh kqsedkaitl ylkglkveek sfawrkllta lekvaerrvc 421 qnvhlvests llglvyklkg qeknalfyye kalrltgemn paf // LOCUS NP_001344556 749 aa linear ROD 09-OCT-2023 DEFINITION signal transducer and activator of transcription 1 isoform 2 [Mus musculus]. ACCESSION NP_001344556 XP_006495874 VERSION NP_001344556.1 DBSOURCE REFSEQ: accession NM_001357627.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 749) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 749) AUTHORS Clark DN, O'Neil SM, Xu L, Steppe JT, Savage JT, Raghunathan K and Filiano AJ. TITLE Prolonged STAT1 activation in neurons drives a pathological transcriptional response JOURNAL J Neuroimmunol 382, 578168 (2023) PUBMED 37556887 REMARK GeneRIF: Prolonged STAT1 activation in neurons drives a pathological transcriptional response. REFERENCE 3 (residues 1 to 749) AUTHORS Imitola J, Hollingsworth EW, Watanabe F, Olah M, Elyaman W, Starossom S, Kivisakk P and Khoury SJ. TITLE Stat1 is an inducible transcriptional repressor of neural stem cells self-renewal program during neuroinflammation JOURNAL Front Cell Neurosci 17, 1156802 (2023) PUBMED 37663126 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 749) AUTHORS Han W, Pu H, Li S, Liu Y, Zhao Y, Xu M, Chen C, Wu Y, Yang T, Ye Q, Wang H, Stetler RA, Chen J and Shi Y. TITLE Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke JOURNAL J Neuroinflammation 20 (1), 178 (2023) PUBMED 37516843 REMARK GeneRIF: Targeted ablation of signal transducer and activator of transduction 1 alleviates inflammation by microglia/macrophages and promotes long-term recovery after ischemic stroke. Publication Status: Online-Only REFERENCE 5 (residues 1 to 749) AUTHORS Largent AD, Lambert K, Chiang K, Shumlak N, Liggitt D, Oukka M, Torgerson TR, Buckner JH, Allenspach EJ, Rawlings DJ and Jackson SW. TITLE Dysregulated IFN-gamma signals promote autoimmunity in STAT1 gain-of-function syndrome JOURNAL Sci Transl Med 15 (703), eade7028 (2023) PUBMED 37406138 REFERENCE 6 (residues 1 to 749) AUTHORS Novak U, Harpur AG, Paradiso L, Kanagasundaram V, Jaworowski A, Wilks AF and Hamilton JA. TITLE Colony-stimulating factor 1-induced STAT1 and STAT3 activation is accompanied by phosphorylation of Tyk2 in macrophages and Tyk2 and JAK1 in fibroblasts JOURNAL Blood 86 (8), 2948-2956 (1995) PUBMED 7579387 REFERENCE 7 (residues 1 to 749) AUTHORS Finidori J and Kelly PA. TITLE Cytokine receptor signalling through two novel families of transducer molecules: Janus kinases, and signal transducers and activators of transcription JOURNAL J Endocrinol 147 (1), 11-23 (1995) PUBMED 7490523 REMARK Review article REFERENCE 8 (residues 1 to 749) AUTHORS Harroch S, Gothelf Y, Revel M and Chebath J. TITLE 5' upstream sequences of MyD88, an IL-6 primary response gene in M1 cells: detection of functional IRF-1 and Stat factors binding sites JOURNAL Nucleic Acids Res 23 (17), 3539-3546 (1995) PUBMED 7567467 REFERENCE 9 (residues 1 to 749) AUTHORS Matsuda T and Hirano T. TITLE Association of p72 tyrosine kinase with Stat factors and its activation by interleukin-3, interleukin-6, and granulocyte colony-stimulating factor JOURNAL Blood 83 (12), 3457-3461 (1994) PUBMED 7515712 REFERENCE 10 (residues 1 to 749) AUTHORS Zhong Z, Wen Z and Darnell JE Jr. TITLE Stat3 and Stat4: members of the family of signal transducers and activators of transcription JOURNAL Proc Natl Acad Sci U S A 91 (11), 4806-4810 (1994) PUBMED 7545930 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC123752.8. On Nov 4, 2017 this sequence version replaced XP_006495874.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.16280.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..749 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 26.81 cM" Protein 1..749 /product="signal transducer and activator of transcription 1 isoform 2" /calculated_mol_wt=87184 Region 2..121 /region_name="STAT_int" /note="STAT protein, protein interaction domain; smart00964" /db_xref="CDD:214942" Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 114 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 138..313 /region_name="STAT1_CCD" /note="Coiled-coil domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16851" /db_xref="CDD:341076" Site order(164..165,168..169,172,175..176,179,232,236,239..241, 243..244,256..257,259..260,263..264,267,271,274,306, 309..311) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:341076" Site 175 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(239..241,243..244,256..257,260,263..264,267,271,274, 302,306,309..310) /site_type="other" /note="CCD-DBD interface [polypeptide binding]" /db_xref="CDD:341076" Site 296 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 317..477 /region_name="STAT1_DBD" /note="DNA-binding domain of Signal Transducer and Activator of Transcription 1 (STAT1); cd16845" /db_xref="CDD:341083" Site order(336,340,378,411,413,426..427,459..460,463) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:341083" Site 366 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 525 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 557..707 /region_name="SH2_STAT1" /note="Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 1 proteins; cd10372" /db_xref="CDD:198235" Site order(584,602,630,632) /site_type="other" /note="phosphotyrosine binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site order(631,647) /site_type="other" /note="hydrophobic binding pocket [polypeptide binding]" /db_xref="CDD:198235" Site 637 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site order(641..642,706) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:198235" Site 665 /site_type="methylation" /note="N6-methyllysine. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 701 /site_type="phosphorylation" /note="Phosphotyrosine, by JAK1, JAK2 or TYK2. /evidence=ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 708 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000269|PubMed:17332413, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Region 715..739 /region_name="STAT1_TAZ2bind" /note="STAT1 TAZ2 binding domain; pfam12162" /db_xref="CDD:432372" Site 724 /site_type="other" /note="Required for recruitment of EP300/p300. /evidence=ECO:0000250|UniProtKB:P42224; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 727 /site_type="phosphorylation" /note="Phosphoserine, by CaMK2 and MAPK14. /evidence=ECO:0000269|PubMed:11972023, ECO:0000269|PubMed:22065572; propagated from UniProtKB/Swiss-Prot (P42225.1)" Site 744 /site_type="phosphorylation" /note="Phosphoserine, by IKKE. /evidence=ECO:0000305|PubMed:17332413; propagated from UniProtKB/Swiss-Prot (P42225.1)" CDS 1..749 /gene="Stat1" /gene_synonym="2010005J02Rik" /coded_by="NM_001357627.1:314..2563" /note="isoform 2 is encoded by transcript variant 4" /db_xref="CCDS:CCDS56628.1" /db_xref="GeneID:20846" /db_xref="MGI:MGI:103063" ORIGIN 1 msqwfelqql dskfleqvhq lyddsfpmei rqylaqwlek qdwehaaydv sfatirfhdl 61 lsqlddqysr fslennfllq hnirkskrnl qdnfqedpvq msmiiynclk eerkilenaq 121 rfnqaqegni qntvmldkqk eldskvrnvk dqvmcieqei ktleelqdey dfkcktsqnr 181 egeangvaks dqkqeqlllh kmflmldnkr keiihkirel lnsieltqnt lindelvewk 241 rrqqsacigg ppnacldqlq swftivaetl qqirqqlkkl eeleqkftye pdpitknkqv 301 lsdrtfllfq qliqssfvve rqpcmpthpq rplvlktgvq ftvklrllvk lqelnynlkv 361 kvsfdkdvne kntvkgfrkf nilgthtkvm nmeestngsl aaefrhlqlk eqknagnrtn 421 egplivteel hslsfetqlc qpglvidlet tslpvvvisn vsqlpsgwas ilwynmlvte 481 prnlsfflnp pcawwsqlse vlswqfssvt krglnadqls mlgekllgpn agpdglipwt 541 rfckenindk nfsfwpwidt ilelikkhll clwndgcimg fiskereral lkdqqpgtfl 601 lrfsessreg aitftwvers qnggepdfha vepytkkels avtfpdiirn ykvmaaenip 661 enplkylypn idkdhafgky ysrpkeapep melddpkrtg yiktelisvs evhpsrlqtt 721 dnllpmspee fdemsrivgp efdsmmstv // LOCUS NP_001349215 526 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 12 [Mus musculus]. ACCESSION NP_001349215 VERSION NP_001349215.1 DBSOURCE REFSEQ: accession NM_001362286.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 526) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 526) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 526) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 526) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 526) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 526) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 526) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 526) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 526) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 526) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.30545.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..526 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..526 /product="CUGBP Elav-like family member 4 isoform 12" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=55979 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 142..222 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(144,146,148..149,152,171,173,175,183..185,187,217, 219) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 407..>435 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..526 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362286.1:531..2111" /note="isoform 12 is encoded by transcript variant 18" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg kdrklfvgml nkqqseddvr rlfeafgnie ectilrgpdg 181 nskgcafvky sshaeaqaai nalhgsqtmp gassslvvkf adtdkertmr rmqqmagqmg 241 mfnpmaipfg aygayaqalm qqqaalmasv aqggylnpma afaaaqmqqm aalnmnglaa 301 apmtptsggs tppgitapav psipspigvn gftglppqan gqpaaeavfa ngihpypaqs 361 ptaadplqqa yagvqqyagp aypaaygqis qafpqpppmi pqqqregpeg cnlliyhlpq 421 efgdaelmqm flpfgrhpvp srcqapscqg gqcaisssar rlrelrqpgq rtdrhpgher 481 lpdrheeaqg aaeaaqrrqs pvlsaggsvp rgrpglaqgr mlnglh // LOCUS NP_001305060 422 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 6 [Mus musculus]. ACCESSION NP_001305060 XP_006535013 VERSION NP_001305060.1 DBSOURCE REFSEQ: accession NM_001318131.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 422) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 422) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 422) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 422) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 422) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 422) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 422) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 422) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 422) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 422) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_006535013.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (6) contains an alternate in-frame coding exon and uses an alternate acceptor splice site at the 3' terminal exon (which causes a frameshift) compared to variant 1. The resulting isoform (6, also known as JNK3 beta1) has a different, internal 24 aa protein segment and a shorter and distinct C-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.124455.1, SRR17784649.656111.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849376 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..422 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..422 /product="mitogen-activated protein kinase 10 isoform 6" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=48126 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..422 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001318131.2:517..1785" /note="isoform 6 is encoded by transcript variant 6" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdlwsvg cimgemvkgt vlfpgtdhid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsaqv 421 qq // LOCUS NP_001156976 474 aa linear ROD 09-OCT-2023 DEFINITION bile acid receptor isoform 2 [Mus musculus]. ACCESSION NP_001156976 VERSION NP_001156976.1 DBSOURCE REFSEQ: accession NM_001163504.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 474) AUTHORS Xu Z, Huang Z, Zhang Y, Sun H, Hinz U, Heger U, Loos M, Gonzalez FJ, Hackert T, Bergmann F and Fortunato F. TITLE Farnesoid X receptor activation inhibits pancreatic carcinogenesis JOURNAL Biochim Biophys Acta Mol Basis Dis 1869 (7), 166811 (2023) PUBMED 37515840 REFERENCE 2 (residues 1 to 474) AUTHORS Qiu Y, Kang N, Wang X, Yao Y, Cui J, Zhang X and Zheng L. TITLE Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice JOURNAL PeerJ 11, e16155 (2023) PUBMED 37790634 REMARK GeneRIF: Loss of Farnesoid X receptor (FXR) accelerates dysregulated glucose and renal injury in db/db mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 474) AUTHORS Dean AE, Jungwirth E, Panzitt K, Wagner M and Anakk S. TITLE Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes JOURNAL Hepatol Commun 7 (10), e0213 (2023) PUBMED 37695073 REMARK GeneRIF: Hepatic farnesoid X receptor is necessary to facilitate ductular reaction and expression of heme biosynthetic genes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 474) AUTHORS Li Z, Dong H, Bian S, Wu H, Song W, Jia X, Chen J, Zhu X, Zhao L, Xuan Z, Jin C, Zhou M, Zheng S and Song P. TITLE FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases JOURNAL Int J Mol Sci 24 (17), 13494 (2023) PUBMED 37686300 REMARK GeneRIF: FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases. Publication Status: Online-Only REFERENCE 5 (residues 1 to 474) AUTHORS Song X, Zhang H, Zhang Y, Goh B, Bao B, Mello SS, Sun X, Zheng W, Gazzaniga FS, Wu M, Qu F, Yin Q, Gilmore MS, Oh SF and Kasper DL. TITLE Gut microbial fatty acid isomerization modulates intraepithelial T cells JOURNAL Nature 619 (7971), 837-843 (2023) PUBMED 37380774 REFERENCE 6 (residues 1 to 474) AUTHORS Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL and Stoffel M. TITLE Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism JOURNAL Nat Genet 27 (4), 375-382 (2001) PUBMED 11279518 REFERENCE 7 (residues 1 to 474) AUTHORS Lammert F, Carey MC and Paigen B. TITLE Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map JOURNAL Gastroenterology 120 (1), 221-238 (2001) PUBMED 11208732 REMARK Review article REFERENCE 8 (residues 1 to 474) AUTHORS Sinal CJ, Tohkin M, Miyata M, Ward JM, Lambert G and Gonzalez FJ. TITLE Targeted disruption of the nuclear receptor FXR/BAR impairs bile acid and lipid homeostasis JOURNAL Cell 102 (6), 731-744 (2000) PUBMED 11030617 REFERENCE 9 (residues 1 to 474) AUTHORS Kozak CA, Adamson MC and Weinberger C. TITLE Genetic mapping of gene encoding the farnesoid receptor, Fxr, to mouse Chromosome 10 JOURNAL Mamm Genome 7 (2), 164-165 (1996) PUBMED 8835541 REFERENCE 10 (residues 1 to 474) AUTHORS Seol W, Choi HS and Moore DD. TITLE Isolation of proteins that interact specifically with the retinoid X receptor: two novel orphan receptors JOURNAL Mol Endocrinol 9 (1), 72-85 (1995) PUBMED 7760852 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC152417.3. Transcript Variant: This variant (2), alternatively referred to as alpha 1, differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U09417.1, U09418.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..474 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 44.98 cM" Protein 1..474 /product="bile acid receptor isoform 2" /note="bile acid receptor; farnesoid X activated receptor; RXR-interacting protein 14; retinoid X receptor-interacting protein 14; farnesol receptor HRR-1" /calculated_mol_wt=54308 Region 121..208 /region_name="NR_DBD_FXR" /note="DNA-binding domain of Farnesoid X receptor (FXR) family is composed of two C4-type zinc fingers; cd06962" /db_xref="CDD:143520" Site order(124,127,141,144,160,166,176,179) /site_type="other" /note="zinc binding site [ion binding]" /db_xref="CDD:143520" Site order(129..130,170..171,174) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:143520" Site order(133..136,142..143,145,147,149..150,173..175,177,180, 194) /site_type="other" /note="putative DNA binding site [nucleotide binding]" /db_xref="CDD:143520" Region 250..469 /region_name="NR_LBD_Fxr" /note="The ligand binding domain of Farnesoid X receptor:a member of the nuclear receptor superfamily of ligand-activated transcription factors; cd06936" /db_xref="CDD:132734" Site order(267,286,289..290,292..293,296,330..331,333..334,337, 449,463) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:132734" Site order(298,301,305,315..316,319,322..323,466,469) /site_type="other" /note="coactivator recognition site [polypeptide binding]" /db_xref="CDD:132734" Site order(377,396,403,407,430,433..434,437..438,440,443..444, 447..448) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:132734" CDS 1..474 /gene="Nr1h4" /gene_synonym="Fxr; HRR1; RIP14; Rxrip14" /coded_by="NM_001163504.1:289..1713" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS48669.1" /db_xref="GeneID:20186" /db_xref="MGI:MGI:1352464" ORIGIN 1 mnlighshlq atdefslses lfgmltehaa gplgqnldle syspynnvpf pqvqpqisss 61 syysnlgfyp qqpedwyspg iyelrrmpae tgyqgetevs empvtkkprm aaasagrikg 121 delcvvcgdr asgyhynalt cegckgffrr sitknavykc knggncvmdm ymrrkcqecr 181 lrkckemgml aecmytgllt eiqckskrlr knvkqhadqt aneddsegrd lrqvtsttkf 241 crekteltad qqtlldyimd synkqrmpqe itnkilkeef saeenflilt ematshvqil 301 veftkklpgf qtldhedqia llkgsaveam flrsaeifnk klpaghadll eerirksgis 361 deyitpmfsf yksvgelkmt qeeyalltai vilspdrqyi kdreaveklq eplldvlqkl 421 ckmyqpenpq hfacllgrlt elrtfnhhha emlmswrvnd hkftpllcei wdvq // LOCUS NP_035472 215 aa linear ROD 09-OCT-2023 DEFINITION vesicle-trafficking protein SEC22b precursor [Mus musculus]. ACCESSION NP_035472 VERSION NP_035472.1 DBSOURCE REFSEQ: accession NM_011342.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 215) AUTHORS Tondeur EGM, Voerman JSA, Geleijnse MAA, van Hofwegen LS, van Krimpen A, Koerner J, Mishra G, Song Z and Schliehe C. TITLE Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro JOURNAL J Immunol 211 (8), 1203-1215 (2023) PUBMED 37638825 REMARK GeneRIF: Sec22b and Stx4 Depletion Has No Major Effect on Cross-Presentation of PLGA Microsphere-Encapsulated Antigen and a Synthetic Long Peptide In Vitro. REFERENCE 2 (residues 1 to 215) AUTHORS Biscari L, Maza MC, Farre C, Kaufman CD, Amigorena S, Fresno M, Girones N and Alloatti A. TITLE Sec22b-dependent antigen cross-presentation is a significant contributor of T cell priming during infection with the parasite Trypanosoma cruzi JOURNAL Front Cell Dev Biol 11, 1138571 (2023) PUBMED 36936692 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 215) AUTHORS Bonaud A, Gargowitsch L, Gilbert SM, Rajan E, Canales-Herrerias P, Stockholm D, Rahman NF, Collins MO, Taskiran H, Hill DL, Alloatti A, Alouche N, Balor S, Soldan V, Gillet D, Barbier J, Bachelerie F, Smith KGC, Jellusova J, Bruhns P, Amigorena S, Balabanian K, Linterman MA, Peden AA and Espeli M. TITLE Sec22b is a critical and nonredundant regulator of plasma cell maintenance JOURNAL Proc Natl Acad Sci U S A 120 (2), e2213056120 (2023) PUBMED 36595686 REMARK GeneRIF: Sec22b is a critical and nonredundant regulator of plasma cell maintenance. REFERENCE 4 (residues 1 to 215) AUTHORS Arango Duque G, Dion R, Matte C, Fabie A, Descoteaux J, Stager S and Descoteaux A. TITLE Sec22b Regulates Inflammatory Responses by Controlling the Nuclear Translocation of NF-kappaB and the Secretion of Inflammatory Mediators JOURNAL J Immunol 207 (9), 2297-2309 (2021) PUBMED 34580108 REMARK GeneRIF: Sec22b Regulates Inflammatory Responses by Controlling the Nuclear Translocation of NF-kappaB and the Secretion of Inflammatory Mediators. REFERENCE 5 (residues 1 to 215) AUTHORS Wu SJ, Khoriaty R, Kim SH, O'Shea KS, Zhu G, Hoenerhoff M, Zajac C, Oravecz-Wilson K, Toubai T, Sun Y, Ginsburg D and Reddy P. TITLE SNARE protein SEC22B regulates early embryonic development JOURNAL Sci Rep 9 (1), 11434 (2019) PUBMED 31391476 REMARK GeneRIF: SNARE protein SEC22B regulates early embryonic development. Publication Status: Online-Only REFERENCE 6 (residues 1 to 215) AUTHORS Jang SB, Kim YG, Cho YS, Suh PG, Kim KH and Oh BH. TITLE Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda JOURNAL J Biol Chem 277 (51), 49863-49869 (2002) PUBMED 12361953 REFERENCE 7 (residues 1 to 215) AUTHORS Gonzalez LC Jr, Weis WI and Scheller RH. TITLE A novel snare N-terminal domain revealed by the crystal structure of Sec22b JOURNAL J Biol Chem 276 (26), 24203-24211 (2001) PUBMED 11309394 REFERENCE 8 (residues 1 to 215) AUTHORS Bell AW, Ward MA, Blackstock WP, Freeman HN, Choudhary JS, Lewis AP, Chotai D, Fazel A, Gushue JN, Paiement J, Palcy S, Chevet E, Lafreniere-Roula M, Solari R, Thomas DY, Rowley A and Bergeron JJ. TITLE Proteomics characterization of abundant Golgi membrane proteins JOURNAL J Biol Chem 276 (7), 5152-5165 (2001) PUBMED 11042173 REFERENCE 9 (residues 1 to 215) AUTHORS Zhang T, Wong SH, Tang BL, Xu Y and Hong W. TITLE Morphological and functional association of Sec22b/ERS-24 with the pre-Golgi intermediate compartment JOURNAL Mol Biol Cell 10 (2), 435-453 (1999) PUBMED 9950687 REFERENCE 10 (residues 1 to 215) AUTHORS Hay JC, Chao DS, Kuo CS and Scheller RH. TITLE Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells JOURNAL Cell 89 (1), 149-158 (1997) PUBMED 9094723 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC131746.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK037918.1, AK088514.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..215 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 42.35 cM" Protein 1..215 /product="vesicle-trafficking protein SEC22b precursor" /note="vesicle-trafficking protein SEC22b; ERS24; mSec22b; ER-Golgi SNARE of 24 kDa; SEC22 vesicle trafficking protein-like 1; SEC22 vesicle trafficking protein homolog B" /calculated_mol_wt=23369 sig_peptide 1..13 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1390 Region 3..126 /region_name="Longin" /note="longin domain; cd14824" /db_xref="CDD:341428" Site order(3,33,36,56,59,61) /site_type="lipid-binding" /note="lipid binding site [chemical binding]" /db_xref="CDD:341428" Site order(15,18,20,34,38,117,121,124) /site_type="other" /note="Sec22 interface [polypeptide binding]" /db_xref="CDD:341428" Site 38 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:O75396; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site order(55,58,78,82) /site_type="other" /note="VARP interface [polypeptide binding]" /db_xref="CDD:341428" Region 132..195 /region_name="R-SNARE_SEC22" /note="SNARE motif of SEC22; cd15866" /db_xref="CDD:277219" Site order(134..136,138..139,141..146,148..150,152,155..156, 158..160,162..167,169..174,176..181,183..188,190..192) /site_type="other" /note="heterotetramer interface [polypeptide binding]" /db_xref="CDD:277219" Site 137 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:18630941, ECO:0007744|PubMed:19144319, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 140 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:O75396; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 159 /site_type="other" /note="zero layer" /db_xref="CDD:277219" Site 164 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O75396; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 168 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 174 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O75396; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 177 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O75396; propagated from UniProtKB/Swiss-Prot (O08547.3)" Site 195..215 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O08547.3)" CDS 1..215 /gene="Sec22b" /gene_synonym="4930564D15Rik; ERS-24; Sec22l1" /coded_by="NM_011342.4:120..767" /db_xref="CCDS:CCDS17658.1" /db_xref="GeneID:20333" /db_xref="MGI:MGI:1338759" ORIGIN 1 mvlltmiarv adglplaasm qedeqsgrdl qqyqsqakql frklneqspt rctleagamt 61 fhyiieqgvc ylvlceaafp kklafayled lhsefdeqhg kkvptvsrpy sfiefdtfiq 121 ktkklyidsr arrnlgsint elqdvqrimv anieevlqrg ealsaldska nnlsslskky 181 rqdakylnmr styaklaava vffimlivyv rfwwl // LOCUS NP_001280551 511 aa linear ROD 09-OCT-2023 DEFINITION protein phosphatase 3 catalytic subunit alpha isoform 2 [Mus musculus]. ACCESSION NP_001280551 XP_006501199 VERSION NP_001280551.1 DBSOURCE REFSEQ: accession NM_001293622.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 511) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 2 (residues 1 to 511) AUTHORS Delint-Ramirez I, Konada L, Heady L, Rueda R, Jacome ASV, Marlin E, Marchioni C, Segev A, Kritskiy O, Yamakawa S, Reiter AH, Tsai LH and Madabhushi R. TITLE Calcineurin dephosphorylates topoisomerase IIbeta and regulates the formation of neuronal-activity-induced DNA breaks JOURNAL Mol Cell 82 (20), 3794-3809 (2022) PUBMED 36206766 REMARK GeneRIF: Calcineurin dephosphorylates topoisomerase IIbeta and regulates the formation of neuronal-activity-induced DNA breaks. REFERENCE 3 (residues 1 to 511) AUTHORS Miura E and Watanabe M. TITLE Coexpression of calcineurin A and B subunits in various subcellular and synaptic compartments of cerebellar neurons and glia with particular abundance at parallel fiber-Purkinje cell synapses JOURNAL Neurosci Res 180, 13-22 (2022) PUBMED 35247520 REMARK GeneRIF: Coexpression of calcineurin A and B subunits in various subcellular and synaptic compartments of cerebellar neurons and glia with particular abundance at parallel fiber-Purkinje cell synapses. REFERENCE 4 (residues 1 to 511) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 511) AUTHORS Sidoli M, Reed CB, Scapin C, Paez P, Cavener DR, Kaufman RJ, D'Antonio M, Feltri ML and Wrabetz L. TITLE Calcineurin Activity Is Increased in Charcot-Marie-Tooth 1B Demyelinating Neuropathy JOURNAL J Neurosci 41 (20), 4536-4548 (2021) PUBMED 33879538 REFERENCE 6 (residues 1 to 511) AUTHORS Gaestel M, Benndorf R, Hayess K, Priemer E and Engel K. TITLE Dephosphorylation of the small heat shock protein hsp25 by calcium/calmodulin-dependent (type 2B) protein phosphatase JOURNAL J Biol Chem 267 (30), 21607-21611 (1992) PUBMED 1328240 REFERENCE 7 (residues 1 to 511) AUTHORS Giri PR, Marietta CA, Higuchi S and Kincaid RL. TITLE Molecular and phylogenetic analysis of calmodulin-dependent protein phosphatase (calcineurin) catalytic subunit genes JOURNAL DNA Cell Biol 11 (5), 415-424 (1992) PUBMED 1318721 REFERENCE 8 (residues 1 to 511) AUTHORS Kincaid RL, Giri PR, Higuchi S, Tamura J, Dixon SC, Marietta CA, Amorese DA and Martin BM. TITLE Cloning and characterization of molecular isoforms of the catalytic subunit of calcineurin using nonisotopic methods JOURNAL J Biol Chem 265 (19), 11312-11319 (1990) PUBMED 2162844 REFERENCE 9 (residues 1 to 511) AUTHORS Guerini D and Klee CB. TITLE Cloning of human calcineurin A: evidence for two isozymes and identification of a polyproline structural domain JOURNAL Proc Natl Acad Sci U S A 86 (23), 9183-9187 (1989) PUBMED 2556704 REFERENCE 10 (residues 1 to 511) AUTHORS Kincaid RL, Nightingale MS and Martin BM. TITLE Characterization of a cDNA clone encoding the calmodulin-binding domain of mouse brain calcineurin JOURNAL Proc Natl Acad Sci U S A 85 (23), 8983-8987 (1988) PUBMED 2848250 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC116384.9, AK150393.1, AK053582.1, AC129775.4 and AI835974.1. On Jun 11, 2014 this sequence version replaced XP_006501199.1. Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK146387.1, AK150393.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..511 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="3" /map="3 63.34 cM" Protein 1..511 /product="protein phosphatase 3 catalytic subunit alpha isoform 2" /EC_number="3.1.3.16" /note="calcineurin A alpha; protein phosphatase 3 catalytic subunit alpha; CAM-PRP catalytic subunit; PP2BA alpha; PP2B alpha 1; CNA alpha" /calculated_mol_wt=57484 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:Q08209; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 41..345 /region_name="MPP_PP2B" /note="PP2B, metallophosphatase domain; cd07416" /db_xref="CDD:277361" Site order(53,55,90,92,118,150,159,199,281,314,341) /site_type="other" /note="CN-CyPA-CsA complex [polypeptide binding]" /db_xref="CDD:277361" Region 56..340 /region_name="Catalytic. /evidence=ECO:0000305" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site order(90,92,118,122,150..151,199,232,254,281,283) /site_type="active" /db_xref="CDD:277361" Site order(90,92,118,150,199,281) /site_type="metal-binding" /note="metal binding site [ion binding]" /db_xref="CDD:277361" Region 307..311 /region_name="SAPNY motif. /evidence=ECO:0000250|UniProtKB:Q08209" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 327..336 /region_name="Interaction with PxIxIF motif in substrate. /evidence=ECO:0000250|UniProtKB:Q08209" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 341..369 /region_name="Calcineurin B binding. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 352 /site_type="other" /note="Interaction with PxVP motif in substrate. /evidence=ECO:0000250|UniProtKB:Q08209; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 392..406 /region_name="Calmodulin-binding. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 407..414 /region_name="Autoinhibitory segment. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 455..477 /region_name="Autoinhibitory domain. /evidence=ECO:0000269|PubMed:26794871" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 459 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P63329; propagated from UniProtKB/Swiss-Prot (P63328.1)" Region 465..511 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P63328.1)" Site 482 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P63328.1)" CDS 1..511 /gene="Ppp3ca" /gene_synonym="2900074D19Rik; Caln; Calna; CN; CnA" /coded_by="NM_001293622.1:779..2314" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS80027.1" /db_xref="GeneID:19055" /db_xref="MGI:MGI:107164" ORIGIN 1 msepkaidpk lsttdrvvka vpfppshrlt akevfdndgk prvdilkahl mkegrleesv 61 alriitegas ilrqeknlld idapvtvcgd ihgqffdlmk lfevggspan trylflgdyv 121 drgyfsiecv lylwalkily pktlfllrgn hecrhlteyf tfkqeckiky servydacmd 181 afdclplaal mnqqflcvhg glspeintld dirkldrfke ppaygpmcdi lwsdpledfg 241 nektqehfth ntvrgcsyfy sypavcdflq hnnllsilra heaqdagyrm yrksqttgfp 301 slitifsapn yldvynnkaa vlkyennvmn irqfncsphp ywlpnfmdvf twslpfvgek 361 vtemlvnvln icsddelgse edgfdgataa arkevirnki raigkmarvf svlreesesv 421 ltlkgltptg mlpsgvlsgg kqtlqsaikg fspqhkitsf eeakgldrin ermpprrdam 481 psdanlnsin kalasetngt dsngsnssni q // LOCUS NP_001278107 477 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform j [Mus musculus]. ACCESSION NP_001278107 VERSION NP_001278107.1 DBSOURCE REFSEQ: accession NM_001291178.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 477) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 477) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 477) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 477) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 477) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 477) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 477) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 477) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 477) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 477) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887592.1, EU887581.1 and BP757417.1. Transcript Variant: This variant (15, also known as IB-deltaII-deltaXa) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (j) is shorter at the N-terminus, compared to isoform a. Both variants 10 and 15 encode isoform j. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887592.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..477 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..477 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform j" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=52558 Region <1..124 /region_name="RHD-n" /note="N-terminal sub-domain of the Rel homology domain (RHD); cl08275" /db_xref="CDD:447596" Region 129..229 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(153,217) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..477 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291178.1:489..1922" /note="isoform j is encoded by transcript variant 15" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv leiplepknn 61 mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv slqaasnpie 121 csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg qqiwemeatv 181 dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv paiktepsde 241 yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp daryqqqspa 301 aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst lphtssasqq 361 aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls pgayptviqq 421 qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtylddv neiirkefsg ppsrnqt // LOCUS NP_083922 219 aa linear ROD 09-OCT-2023 DEFINITION interleukin-34 isoform 2 precursor [Mus musculus]. ACCESSION NP_083922 XP_001003927 XP_001003931 VERSION NP_083922.1 DBSOURCE REFSEQ: accession NM_029646.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 219) AUTHORS Ho A, Ngala B, Yamada C, Garcia C, Duarte C, Akkaoui J, Ciolac D, Nusbaum A, Kochen W, Efremova D, Groppa S, Nathanson L, Bissel S, Oblak A, Kacena MA and Movila A. TITLE IL-34 exacerbates pathogenic features of Alzheimer's disease and calvaria osteolysis in triple transgenic (3x-Tg) female mice JOURNAL Biomed Pharmacother 166, 115435 (2023) PUBMED 37666180 REMARK GeneRIF: IL-34 exacerbates pathogenic features of Alzheimer's disease and calvaria osteolysis in triple transgenic (3x-Tg) female mice. REFERENCE 2 (residues 1 to 219) AUTHORS Zhuang L, Zong X, Yang Q, Fan Q and Tao R. TITLE Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization JOURNAL EBioMedicine 95, 104744 (2023) PUBMED 37556943 REMARK GeneRIF: Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization. REFERENCE 3 (residues 1 to 219) AUTHORS Xie X, Zhang W, Xiao M, Wei T, Qiu Y, Qiu J, Wang H, Qiu Z, Zhang S, Pan Y, Mao L, Li Y, Guo B, Yang W, Hu Y, Hu S, Gong Y, Yang J, Xiao G, Zhang Y and Bai X. TITLE TREM2 acts as a receptor for IL-34 to suppress acute myeloid leukemia in mice JOURNAL Blood 141 (26), 3184-3198 (2023) PUBMED 37001042 REMARK GeneRIF: TREM2 acts as a receptor for IL-34 to suppress acute myeloid leukemia in mice. REFERENCE 4 (residues 1 to 219) AUTHORS Chae DS, Han S, Lee MK and Kim SW. TITLE BMP-2 Genome-Edited Human MSCs Protect against Cartilage Degeneration via Suppression of IL-34 in Collagen-Induced Arthritis JOURNAL Int J Mol Sci 24 (9), 8223 (2023) PUBMED 37175932 REMARK GeneRIF: BMP-2 Genome-Edited Human MSCs Protect against Cartilage Degeneration via Suppression of IL-34 in Collagen-Induced Arthritis. Publication Status: Online-Only REFERENCE 5 (residues 1 to 219) AUTHORS Su Y, Cao Y, Liu C, Xu Q, Li N, Lan M, Li L, Wang K, Zhang Z and Meng Q. TITLE Inactivating IL34 promotes regenerating muscle stem cell expansion and attenuates Duchenne muscular dystrophy in mouse models JOURNAL Theranostics 13 (8), 2588-2604 (2023) PUBMED 37215564 REMARK GeneRIF: Inactivating IL34 promotes regenerating muscle stem cell expansion and attenuates Duchenne muscular dystrophy in mouse models. Publication Status: Online-Only REFERENCE 6 (residues 1 to 219) AUTHORS Chen Z, Buki K, Vaaraniemi J, Gu G and Vaananen HK. TITLE The critical role of IL-34 in osteoclastogenesis JOURNAL PLoS One 6 (4), e18689 (2011) PUBMED 21494622 REMARK GeneRIF: This study was to explore the biological function, specifically osteoclastogenesis and bone metabolism, of il-34. Publication Status: Online-Only REFERENCE 7 (residues 1 to 219) AUTHORS Chihara T, Suzu S, Hassan R, Chutiwitoonchai N, Hiyoshi M, Motoyoshi K, Kimura F and Okada S. TITLE IL-34 and M-CSF share the receptor Fms but are not identical in biological activity and signal activation JOURNAL Cell Death Differ 17 (12), 1917-1927 (2010) PUBMED 20489731 REFERENCE 8 (residues 1 to 219) AUTHORS Wei S, Nandi S, Chitu V, Yeung YG, Yu W, Huang M, Williams LT, Lin H and Stanley ER. TITLE Functional overlap but differential expression of CSF-1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells JOURNAL J Leukoc Biol 88 (3), 495-505 (2010) PUBMED 20504948 REMARK GeneRIF: The different spatiotemporal expression of IL-34 and CSF-1 allows for complementary activation of the CSF-1R in developing and adult tissues. REFERENCE 9 (residues 1 to 219) AUTHORS Baud'huin M, Renault R, Charrier C, Riet A, Moreau A, Brion R, Gouin F, Duplomb L and Heymann D. TITLE Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis JOURNAL J Pathol 221 (1), 77-86 (2010) PUBMED 20191615 REFERENCE 10 (residues 1 to 219) AUTHORS Lin H, Lee E, Hestir K, Leo C, Huang M, Bosch E, Halenbeck R, Wu G, Zhou A, Behrens D, Hollenbaugh D, Linnemann T, Qin M, Wong J, Chu K, Doberstein SK and Williams LT. TITLE Discovery of a cytokine and its receptor by functional screening of the extracellular proteome JOURNAL Science 320 (5877), 807-811 (2008) PUBMED 18467591 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY148512.1, AK008082.1 and AW743837.1. On or before May 4, 2006 this sequence version replaced XP_001003931.1, XP_001003927.1. Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region which results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK008082.1, SRR12282455.12957500.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..219 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 57.68 cM" Protein 1..219 /product="interleukin-34 isoform 2 precursor" /calculated_mol_wt=22549 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2205 Region 28..>153 /region_name="IL34" /note="Interleukin 34; pfam15036" /db_xref="CDD:434409" CDS 1..219 /gene="Il34" /gene_synonym="2010004A03Rik" /coded_by="NM_029646.3:584..1243" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS52670.1" /db_xref="GeneID:76527" /db_xref="MGI:MGI:1923777" ORIGIN 1 mpwglawlyc lgilldvalg nenleiwtlt qdkecdltgy lrgklqyknr lqymkhyfpi 61 nyriavpyeg vlrvanitrl qkahvserel rylwvlvsln atesvmdvll eghpswkylq 121 evqtllenvq rslmavgvhl pghvlvtlls qlpglpspwa rsfdtswell mmkgcgdwps 181 rgscvissey srpkpeagaa qslagqllpg hgtavlfll // LOCUS NP_001348623 503 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform a [Mus musculus]. ACCESSION NP_001348623 XP_017176933 VERSION NP_001348623.1 DBSOURCE REFSEQ: accession NM_001361694.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 503) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 503) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 503) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 503) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 503) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 503) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 503) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153632.2. On Mar 29, 2018 this sequence version replaced XP_017176933.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.142474.1, SRR1660819.192556.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..503 /product="nuclear respiratory factor 1 isoform a" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=53440 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 301..476 /region_name="Required for transcriptional activation. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..502 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..503 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001361694.2:1818..3329" /note="isoform a is encoded by transcript variant 9" /db_xref="CCDS:CCDS19968.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lvqipvsmyq tvvtslaqgn gpvqvamapv 481 ttrisdsavt mdgqavevvt leq // LOCUS NP_001157699 534 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform b [Mus musculus]. ACCESSION NP_001157699 VERSION NP_001157699.1 DBSOURCE REFSEQ: accession NM_001164227.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 534) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 534) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 534) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 534) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 534) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 534) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 534) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and longer C-terminus in isoform b, compared to isoform a. Variants 2, 7, 13, and 14 all encode the same isoform (b). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.1832751.1, SRR13422601.2323916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..534 /product="nuclear respiratory factor 1 isoform b" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=57152 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..525 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" CDS 1..534 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001164227.2:274..1878" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS51741.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang pdgvhawtis kavtapqaag kihtdfgkgf 481 imaevmkded lkeessenaa kaagkykqqg rayvvedgdi iffkfnspqq lkkk // LOCUS NP_001271158 421 aa linear ROD 09-OCT-2023 DEFINITION nuclear autoantigenic sperm protein isoform 3 [Mus musculus]. ACCESSION NP_001271158 VERSION NP_001271158.1 DBSOURCE REFSEQ: accession NM_001284229.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 421) AUTHORS Bao Y, Lian M, Chen Y, Gu X, Cao K, Du X and Ju J. TITLE sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway JOURNAL J Immunol Res 2023, 4877700 (2023) PUBMED 37771504 REMARK GeneRIF: sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway. Publication Status: Online-Only REFERENCE 2 (residues 1 to 421) AUTHORS Li J, Jiang H, Mu Y, Wei Z, Ma A, Sun M, Zhao J, Zhu C and Chen X. TITLE SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex JOURNAL iScience 26 (7), 107042 (2023) PUBMED 37360696 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 421) AUTHORS Zhang Y, Yan H, Zhu J, Chen L, Wang H and Ju J. TITLE [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A] JOURNAL Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 38 (7), 577-583 (2022) PUBMED 35786450 REMARK GeneRIF: [Hepatic fibrosis aggravation in nuclear autoantigenic sperm protein (NASP) mutant mice induced by concanavalin A]. REFERENCE 4 (residues 1 to 421) AUTHORS Zhang J, Du X, Wang H, Bao Y, Lian M, Xu Z and Ju J. TITLE A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse JOURNAL Mediators Inflamm 2021, 8175863 (2021) PUBMED 34720750 REMARK GeneRIF: A Variant of sNASP Exacerbates Lymphocyte Subset Disorder and Nephritis in a Spontaneous Lupus Model Sle1.Yaa Mouse. Publication Status: Online-Only REFERENCE 5 (residues 1 to 421) AUTHORS Ju J, Xu J, Zhu Y, Fu X, Morel L and Xu Z. TITLE A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus JOURNAL Front Immunol 10, 637 (2019) PUBMED 31001259 REMARK GeneRIF: A Variant of the Histone-Binding Protein sNASP Contributes to Mouse Lupus. Publication Status: Online-Only REFERENCE 6 (residues 1 to 421) AUTHORS Piao Y, Ko NT, Lim MK and Ko MS. TITLE Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method JOURNAL Genome Res 11 (9), 1553-1558 (2001) PUBMED 11544199 REFERENCE 7 (residues 1 to 421) AUTHORS Richardson RT, Bencic DC and O'Rand MG. TITLE Comparison of mouse and human NASP genes and expression in human transformed and tumor cell lines JOURNAL Gene 274 (1-2), 67-75 (2001) PUBMED 11674998 REFERENCE 8 (residues 1 to 421) AUTHORS Richardson RT, Batova IN, Widgren EE, Zheng LX, Whitfield M, Marzluff WF and O'Rand MG. TITLE Characterization of the histone H1-binding protein, NASP, as a cell cycle-regulated somatic protein JOURNAL J Biol Chem 275 (39), 30378-30386 (2000) PUBMED 10893414 REFERENCE 9 (residues 1 to 421) AUTHORS Hemberger M, Himmelbauer H, Ruschmann J, Zeitz C and Fundele R. TITLE cDNA subtraction cloning reveals novel genes whose temporal and spatial expression indicates association with trophoblast invasion JOURNAL Dev Biol 222 (1), 158-169 (2000) PUBMED 10885754 REFERENCE 10 (residues 1 to 421) AUTHORS Leimeister C, Bach A, Woolf AS and Gessler M. TITLE Screen for genes regulated during early kidney morphogenesis JOURNAL Dev Genet 24 (3-4), 273-283 (1999) PUBMED 10322635 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK083333.1, AF095722.1 and AL669953.7. Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 2. It encodes isoform 3, which is shorter than isoform 2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF095722.1, SRR7345562.926555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..421 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 53.24 cM" Protein 1..421 /product="nuclear autoantigenic sperm protein isoform 3" /note="somatic histone binding protein NASP" /calculated_mol_wt=45623 Region 145..168 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 174..250 /region_name="TPR_12" /note="Tetratricopeptide repeat; pfam13424" /db_xref="CDD:315987" Region 176..213 /region_name="SHNi-TPR" /note="pfam10516" /db_xref="CDD:402238" Region 176..204 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(177,180..181,184..185,187,219,222..223,226..227, 229..230,251,254..255,258) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region 209..247 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" CDS 1..421 /gene="Nasp" /gene_synonym="5033430J04Rik; D4Ertd767e; Epcs32; Nasp-T" /coded_by="NM_001284229.1:108..1373" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS71451.1" /db_xref="GeneID:50927" /db_xref="MGI:MGI:1355328" ORIGIN 1 matestaaaa iaaelvsadk iedapapsts adkmesldvd seakkllglg qkhlvmgdip 61 aavnafqeaa sllmengvlg nalegvhvee eegektedes lvenndnvde tegseeedre 121 ndkaeetpne svlekkslqe neeeeignle lawdmldlak iifkrqetke aqlyaaqahl 181 klgevsvese nyiqaveefq aclslqeqyl eahdrllaet hyqlglaygy nsqydeavaq 241 fgksidviek rmavlheqmk eaegsfteye keieelkell peirekieda kesqrsgnva 301 elalkatlve sstsgftpsg agasvsmias rkptdgasss ncvtdishlv rkkrkpeees 361 prkddakkak qepevnggsg davssgkevs enmeaeaenq aesqtaegtv esaatiksta 421 c // LOCUS NP_001297612 426 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 3 [Mus musculus]. ACCESSION NP_001297612 XP_006535012 VERSION NP_001297612.1 DBSOURCE REFSEQ: accession NM_001310683.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 426) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 426) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 426) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 426) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 426) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 426) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 426) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 426) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 426) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 426) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jul 17, 2015 this sequence version replaced XP_006535012.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (3) uses an alternate acceptor splice site in the 5' region, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK036275.1, SRR1660821.57275.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..426 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..426 /product="mitogen-activated protein kinase 10 isoform 3" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=47997 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..426 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001310683.2:658..1938" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsg aavnsseslp psssvndiss mstdqtlasd tdssleasag 421 plgccr // LOCUS NP_032416 329 aa linear ROD 09-OCT-2023 DEFINITION interferon regulatory factor 1 isoform a [Mus musculus]. ACCESSION NP_032416 VERSION NP_032416.1 DBSOURCE REFSEQ: accession NM_008390.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 329) AUTHORS Kong P, Yang M, Wang Y, Yu KN, Wu L and Han W. TITLE Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury JOURNAL Redox Biol 66, 102857 (2023) PUBMED 37611494 REMARK GeneRIF: Ferroptosis triggered by STAT1- IRF1-ACSL4 pathway was involved in radiation-induced intestinal injury. REFERENCE 2 (residues 1 to 329) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 329) AUTHORS Gungabeesoon J, Gort-Freitas NA, Kiss M, Bolli E, Messemaker M, Siwicki M, Hicham M, Bill R, Koch P, Cianciaruso C, Duval F, Pfirschke C, Mazzola M, Peters S, Homicsko K, Garris C, Weissleder R, Klein AM and Pittet MJ. TITLE A neutrophil response linked to tumor control in immunotherapy JOURNAL Cell 186 (7), 1448-1464 (2023) PUBMED 37001504 REFERENCE 4 (residues 1 to 329) AUTHORS Chen X, Qi D, Fan S, He Y, Jing H and Wang D. TITLE Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury JOURNAL Clin Sci (Lond) 137 (5), 367-383 (2023) PUBMED 36857175 REMARK GeneRIF: Interferon regulatory factor 1 (IRF1) inhibits lung endothelial regeneration following inflammation-induced acute lung injury. REFERENCE 5 (residues 1 to 329) AUTHORS Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Turel O, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guerin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudee C, Paz MEJ, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martinez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Levy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Beziat V, Lachmann N, Langlais D, Casanova JL, Gros P and Bustamante J. TITLE Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria JOURNAL Cell 186 (3), 621-645 (2023) PUBMED 36736301 REFERENCE 6 (residues 1 to 329) AUTHORS Gribaudo G, Caliendo A, Lembo D, Cavallo R and Landolfo S. TITLE Molecular cloning of interferon-gamma inducible genes from a murine pre-B cell leukemia JOURNAL J Biol Regul Homeost Agents 6 (4), 137-141 (1992) PUBMED 1296455 REFERENCE 7 (residues 1 to 329) AUTHORS Tanaka N and Taniguchi T. TITLE Cytokine gene regulation: regulatory cis-elements and DNA binding factors involved in the interferon system JOURNAL Adv Immunol 52, 263-281 (1992) PUBMED 1442307 REMARK Review article REFERENCE 8 (residues 1 to 329) AUTHORS Buckwalter MS, Lossie AC, Scarlett LM and Camper SA. TITLE Localization of the human chromosome 5q genes Gabra-1, Gabrg-2, Il-4, Il-5, and Irf-1 on mouse chromosome 11 JOURNAL Mamm Genome 3 (10), 604-607 (1992) PUBMED 1358285 REFERENCE 9 (residues 1 to 329) AUTHORS Driggers PH, Ennist DL, Gleason SL, Mak WH, Marks MS, Levi BZ, Flanagan JR, Appella E and Ozato K. TITLE An interferon gamma-regulated protein that binds the interferon-inducible enhancer element of major histocompatibility complex class I genes JOURNAL Proc Natl Acad Sci U S A 87 (10), 3743-3747 (1990) PUBMED 2111015 REFERENCE 10 (residues 1 to 329) AUTHORS Harada H, Fujita T, Miyamoto M, Kimura Y, Maruyama M, Furia A, Miyata T and Taniguchi T. TITLE Structurally similar but functionally distinct factors, IRF-1 and IRF-2, bind to the same regulatory elements of IFN and IFN-inducible genes JOURNAL Cell 58 (4), 729-739 (1989) PUBMED 2475256 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY266109.1, AK152005.1 and BE950981.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK152005.1, AK152104.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..329 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 32.0 cM" Protein 1..329 /product="interferon regulatory factor 1 isoform a" /calculated_mol_wt=37188 Region 7..112 /region_name="IRF" /note="Interferon regulatory factor transcription factor; pfam00605" /db_xref="CDD:425772" Site order(40,80,82..83,86) /site_type="other" /note="DNA sequence recognition sites [nucleotide binding]" /db_xref="CDD:238051" Site 78 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P10914; propagated from UniProtKB/Swiss-Prot (P15314.1)" Site order(85..86,88,91) /site_type="metal-binding" /db_xref="CDD:238051" Region 93..166 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P15314.1)" CDS 1..329 /gene="Irf1" /gene_synonym="Irf-1" /coded_by="NM_008390.2:270..1259" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS24686.1" /db_xref="GeneID:16362" /db_xref="MGI:MGI:96590" ORIGIN 1 mpitrmrmrp wlemqinsnq ipgliwinke emifqipwkh aakhgwdink daclfrswai 61 htgrykagek epdpktwkan frcamnslpd ieevkdqsrn kgssavrvyr mlppltrnqr 121 kerkskssrd tksktkrklc gdvspdtfsd glssstlpdd hssyttqgyl gqdldmerdi 181 tpalspcvvs sslsewhmqm diipdsttdl ynlqvspmps tseaatdede egkiaedlmk 241 lfeqsewqpt hidgkgylln epgtqlssvy gdfsckeepe idsprgdigi giqhvftemk 301 nmdsimwmds llgnsvrlpp siqaipcap // LOCUS NP_001348621 534 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform b [Mus musculus]. ACCESSION NP_001348621 XP_017176931 VERSION NP_001348621.1 DBSOURCE REFSEQ: accession NM_001361692.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 534) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 534) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 534) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 534) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 534) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 534) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 534) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153632.2. On Mar 29, 2018 this sequence version replaced XP_017176931.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.106717.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..534 /product="nuclear respiratory factor 1 isoform b" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=57152 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..525 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" CDS 1..534 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001361692.2:1815..3419" /note="isoform b is encoded by transcript variant 7" /db_xref="CCDS:CCDS51741.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang pdgvhawtis kavtapqaag kihtdfgkgf 481 imaevmkded lkeessenaa kaagkykqqg rayvvedgdi iffkfnspqq lkkk // LOCUS NP_001392988 143 aa linear ROD 09-OCT-2023 DEFINITION bcl-2-like protein 11 isoform 6 [Mus musculus]. ACCESSION NP_001392988 VERSION NP_001392988.1 DBSOURCE REFSEQ: accession NM_001406059.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 143) AUTHORS Jiang M, Wang XB and Jiang S. TITLE circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis JOURNAL Mol Med Rep 28 (5) (2023) PUBMED 37772397 REMARK GeneRIF: circ_0000018 downregulation peripherally ameliorates neuroprotection against acute ischemic stroke through the miR-871/BCL2L11 axis. REFERENCE 2 (residues 1 to 143) AUTHORS Lu Y, Tang K, Wang S, Tian Z, Fan Y, Li B, Wang M, Zhao J and Xie J. TITLE Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity JOURNAL Transl Res 257, 54-65 (2023) PUBMED 36754276 REMARK GeneRIF: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity. REFERENCE 3 (residues 1 to 143) AUTHORS Nguyen HV, Vandenberg CJ, Robati MR, Ng AP and Cory S. TITLE MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis JOURNAL Cell Death Differ 30 (4), 1018-1032 (2023) PUBMED 36755068 REMARK GeneRIF: MNT suppresses T cell apoptosis via BIM and is critical for T lymphomagenesis. REFERENCE 4 (residues 1 to 143) AUTHORS Chen H, Bai Y, Kobayashi M, Xiao S, Cai W, Barajas S, Chen S, Miao J, Meke FN, Vemula S, Ropa JP, Croop JM, Boswell HS, Wan J, Jia Y, Liu H, Li LS, Altman JK, Eklund EA, Ji P, Tong W, Band H, Huang DT, Platanias LC, Zhang ZY and Liu Y. TITLE PRL2 phosphatase enhances oncogenic FLT3 signaling via dephosphorylation of the E3 ubiquitin ligase CBL at tyrosine 371 JOURNAL Blood 141 (3), 244-259 (2023) PUBMED 36206490 REFERENCE 5 (residues 1 to 143) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 6 (residues 1 to 143) AUTHORS Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, Eyre HJ, Sutherland GR and Adams JM. TITLE Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim JOURNAL Mamm Genome 12 (2), 163-168 (2001) PUBMED 11210187 REFERENCE 7 (residues 1 to 143) AUTHORS Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, Adams JM and Strasser A. TITLE Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity JOURNAL Science 286 (5445), 1735-1738 (1999) PUBMED 10576740 REFERENCE 8 (residues 1 to 143) AUTHORS Puthalakath H, Huang DC, O'Reilly LA, King SM and Strasser A. TITLE The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex JOURNAL Mol Cell 3 (3), 287-296 (1999) PUBMED 10198631 REFERENCE 9 (residues 1 to 143) AUTHORS Reed JC. TITLE Bcl-2 family proteins JOURNAL Oncogene 17 (25), 3225-3236 (1998) PUBMED 9916985 REMARK Review article REFERENCE 10 (residues 1 to 143) AUTHORS O'Connor L, Strasser A, O'Reilly LA, Hausmann G, Adams JM, Cory S and Huang DC. TITLE Bim: a novel member of the Bcl-2 family that promotes apoptosis JOURNAL EMBO J 17 (2), 384-395 (1998) PUBMED 9430630 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL805950.11. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13861889.154247.1, SRR17784651.90518.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..143 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 62.23 cM" Protein 1..143 /product="bcl-2-like protein 11 isoform 6" /note="bcl-2-like protein 11; bcl2-interacting mediator of cell death; Bcl2 interacting mediator of cell death; BCL2-like 11 (apoptosis facilitator)" /calculated_mol_wt=15972 Region 4..40 /region_name="Bim_N" /note="Bim protein N-terminus; pfam06773" /db_xref="CDD:429111" Region 73..110 /region_name="Bclx_interact" /note="Bcl-x interacting, BH3 domain; pfam08945" /db_xref="CDD:430337" CDS 1..143 /gene="Bcl2l11" /gene_synonym="1500006F24Rik; bcl2-L-11; Bim; Bod" /coded_by="NM_001406059.1:229..660" /note="isoform 6 is encoded by transcript variant 8" /db_xref="GeneID:12125" /db_xref="MGI:MGI:1197519" ORIGIN 1 makqpsdvss ecdreggqlq paerppqlrp gaptslqtep qdrspapmsc dkstqtpspp 61 cqafnhylsa masirqsqee pedlrpeiri aqelrrigde fnetytrrvr tsphpqrkcn 121 cgdmapfctl rylspnsalt wci // LOCUS NP_001349230 501 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 25 [Mus musculus]. ACCESSION NP_001349230 VERSION NP_001349230.1 DBSOURCE REFSEQ: accession NM_001362301.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 501) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 501) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 501) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 501) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 501) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 501) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 501) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 501) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 501) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 501) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.23663.1, SRR1660821.118042.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..501 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..501 /product="CUGBP Elav-like family member 4 isoform 25" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=53477 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 416..490 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..501 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362301.1:531..2036" /note="isoform 25 is encoded by transcript variant 30" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgnvissk vfvdratnqs fvsfdnpasa qtaiqamngf 481 qigmkrlkvq lkrpkdanrp y // LOCUS NP_001349205 544 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 2 [Mus musculus]. ACCESSION NP_001349205 XP_017173272 VERSION NP_001349205.1 DBSOURCE REFSEQ: accession NM_001362276.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 544) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 544) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 544) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 544) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 544) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 544) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 544) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 544) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 544) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 544) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173272.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.126746.1, SRR17784649.166374.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..544 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..544 /product="CUGBP Elav-like family member 4 isoform 2" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=57868 Region 1..298 /region_name="Sufficient for RNA-binding and MSE-dependent splicing activity. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region <56..378 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..>444 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..544 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362276.1:531..2165" /note="isoform 2 is encoded by transcript variant 8" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma 301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan 361 gihpypaqsp taadplqqay agvqqyagpa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgrhpvps rcqapscqgg qcaisssarr lrelrqpgqr 481 tdrhpgherl pdrheeaqga aeaaqrrqsp vlsaggsvpr grpglaqgqs nppqsraelg 541 ikft // LOCUS NP_001351568 180 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 6 [Mus musculus]. ACCESSION NP_001351568 XP_006516217 VERSION NP_001351568.1 DBSOURCE REFSEQ: accession NM_001364639.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 180) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 180) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 180) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 180) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 180) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 180) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 180) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 180) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 180) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 180) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2 and AC108802.15. On Jun 26, 2018 this sequence version replaced XP_006516217.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.3627676.1, SRR11927935.2737479.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..180 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..180 /product="RNA-binding protein Nova-1 isoform 6" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=19248 Region 1..44 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 27..43 /region_name="Bipartite nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Region 49..121 /region_name="KH-I_NOVA_rpt1" /note="first type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22435" /db_xref="CDD:411863" Site order(61..63,65..69,72..73,83..85,87..89,98) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411863" Region 139..171 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" Site 154 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:15933722; propagated from UniProtKB/Swiss-Prot (Q9JKN6.2)" CDS 1..180 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364639.1:17..559" /note="isoform 6 is encoded by transcript variant 7" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mmaaapiqqn gthtgvpidl dppdsrkrpl eappeagstk rtntgedgqy flkvlipsya 61 agsiigkggq tivqlqketg atiklskskd fypgttervc liqgtiealn avhgfiaeki 121 rempqnvakt epvsilqpqt tvnpdrikqt lpssptttks spsdpmttsr anqkhsswit // LOCUS NP_001397151 546 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform g [Mus musculus]. ACCESSION NP_001397151 XP_011239346 VERSION NP_001397151.1 DBSOURCE REFSEQ: accession NM_001410222.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 546) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 546) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 546) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 546) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 546) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 546) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 546) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 546) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 546) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 546) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_011239346.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.925225.1, SRR13422590.463995.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..546 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..546 /product="nuclear respiratory factor 1 isoform g" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=58438 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 462..537 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" Site 519 /site_type="other" /note="key conserved lysine K48" /db_xref="CDD:340516" CDS 1..546 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410222.1:274..1914" /note="isoform g is encoded by transcript variant 12" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda ngpdgvhawt iskavtapqa 481 agkihtdfgk gfimaevmkd edlkeessen aakaagkykq qgrayvvedg diiffkfnsp 541 qqlkkk // LOCUS NP_001351356 548 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 8 [Mus musculus]. ACCESSION NP_001351356 VERSION NP_001351356.1 DBSOURCE REFSEQ: accession NM_001364427.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 548) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 548) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 548) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 548) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 548) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 548) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 548) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 548) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 548) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 548) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.233502.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..548 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..548 /product="pro-neuregulin-1, membrane-bound isoform isoform 8" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=60012 Region 353..>510 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..548 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364427.1:641..2287" /note="isoform 8 is encoded by transcript variant 8" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfymtsrr krqetekple 301 rkldhslvke tkhlgiefme aeelyqkrvl titgiciall vvgimcvvay cktkkqrqkl 361 hdrlrqslrs ernnmvnian gphhpnpppe nvqlvnqyvs knvissehiv erevetsfst 421 shytstahhs ttvtqtpshs wsnghtesii seshsvimms svensrhssp aggprgrlhg 481 lggprecnsf lrharetpds yrdsphserh nliaelrrnk ayrskcmqie lsathlrsss 541 iphlgfil // LOCUS NP_033148 764 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 1 [Mus musculus]. ACCESSION NP_033148 VERSION NP_033148.2 DBSOURCE REFSEQ: accession NM_009122.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 764) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 764) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 764) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 764) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 764) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 764) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 764) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 764) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 764) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 764) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK037740.1, AK134040.1, AK081385.1, AC131975.28 and AW045567.1. On Jul 29, 2009 this sequence version replaced NP_033148.1. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK037740.1, U05252.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..764 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..764 /product="DNA-binding protein SATB1 isoform 1" /note="DNA-binding protein Satb1" /calculated_mol_wt=85749 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 591..650 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 638 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 645..702 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(647..650,652,670,676,689,691..692,695..696,698..700, 702..703) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(648,651,692,695..696,699) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..764 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_009122.2:213..2507" /note="isoform 1 is encoded by transcript variant 2" /db_xref="CCDS:CCDS28876.1" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqqppp pppqpqpqpq agprlpprqp tvassaesde enrqktrprt kisvealgil 661 qsfiqdvgly pdeeaiqtls aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey 721 kdeellkdle esvqdknant lfsvkleeel svegstdvna dlkd // LOCUS NP_963999 2582 aa linear ROD 09-OCT-2023 DEFINITION chromodomain-helicase-DNA-binding protein 8 [Mus musculus]. ACCESSION NP_963999 XP_006519539 XP_619244 XP_913085 XP_992713 VERSION NP_963999.2 DBSOURCE REFSEQ: accession NM_201637.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2582) AUTHORS Chatterjee I, Getselter D, Ghanayem N, Harari R, Davis L, Bel S and Elliott E. TITLE CHD8 regulates gut epithelial cell function and affects autism-related behaviors through the gut-brain axis JOURNAL Transl Psychiatry 13 (1), 305 (2023) PUBMED 37783686 REMARK GeneRIF: CHD8 regulates gut epithelial cell function and affects autism-related behaviors through the gut-brain axis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 2582) AUTHORS Kawamura A and Nishiyama M. TITLE Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons JOURNAL Commun Biol 6 (1), 593 (2023) PUBMED 37268684 REMARK GeneRIF: Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons. Publication Status: Online-Only REFERENCE 3 (residues 1 to 2582) AUTHORS Munz M, Bharioke A, Kosche G, Moreno-Juan V, Brignall A, Rodrigues TM, Graff-Meyer A, Ulmer T, Haeuselmann S, Pavlinic D, Ledergerber N, Gross-Scherf B, Rozsa B, Krol J, Picelli S, Cowan CS and Roska B. TITLE Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex JOURNAL Cell 186 (9), 1930-1949 (2023) PUBMED 37071993 REFERENCE 4 (residues 1 to 2582) AUTHORS Dong C, Zhao C, Chen X, Berry K, Wang J, Zhang F, Liao Y, Han R, Ogurek S, Xu L, Zhang L, Lin Y, Zhou W, Xin M, Lim DA, Campbell K, Nakafuku M, Waclaw RR and Lu QR. TITLE Conserved and Distinct Functions of the Autism-Related Chromatin Remodeler CHD8 in Embryonic and Adult Forebrain Neurogenesis JOURNAL J Neurosci 42 (44), 8373-8392 (2022) PUBMED 36127134 REMARK GeneRIF: Conserved and Distinct Functions of the Autism-Related Chromatin Remodeler CHD8 in Embryonic and Adult Forebrain Neurogenesis. REFERENCE 5 (residues 1 to 2582) AUTHORS Tu Z, Fan C, Davis AK, Hu M, Wang C, Dandamudi A, Seu KG, Kalfa TA, Lu QR and Zheng Y. TITLE Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling JOURNAL Cell Rep 40 (2), 111072 (2022) PUBMED 35830790 REMARK GeneRIF: Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling. REFERENCE 6 (residues 1 to 2582) AUTHORS Ishihara K, Oshimura M and Nakao M. TITLE CTCF-dependent chromatin insulator is linked to epigenetic remodeling JOURNAL Mol Cell 23 (5), 733-742 (2006) PUBMED 16949368 REFERENCE 7 (residues 1 to 2582) AUTHORS Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A and Cortese R. TITLE Tagging genes with cassette-exchange sites JOURNAL Nucleic Acids Res 33 (4), e44 (2005) PUBMED 15741177 REMARK Publication Status: Online-Only REFERENCE 8 (residues 1 to 2582) AUTHORS Nishiyama M, Nakayama K, Tsunematsu R, Tsukiyama T, Kikuchi A and Nakayama KI. TITLE Early embryonic death in mice lacking the beta-catenin-binding protein Duplin JOURNAL Mol Cell Biol 24 (19), 8386-8394 (2004) PUBMED 15367660 REFERENCE 9 (residues 1 to 2582) AUTHORS Kobayashi M, Kishida S, Fukui A, Michiue T, Miyamoto Y, Okamoto T, Yoneda Y, Asashima M and Kikuchi A. TITLE Nuclear localization of Duplin, a beta-catenin-binding protein, is essential for its inhibitory activity on the Wnt signaling pathway JOURNAL J Biol Chem 277 (8), 5816-5822 (2002) PUBMED 11744694 REFERENCE 10 (residues 1 to 2582) AUTHORS Sakamoto I, Kishida S, Fukui A, Kishida M, Yamamoto H, Hino S, Michiue T, Takada S, Asashima M and Kikuchi A. TITLE A novel beta-catenin-binding protein inhibits beta-catenin-dependent Tcf activation and axis formation JOURNAL J Biol Chem 275 (42), 32871-32878 (2000) PUBMED 10921920 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC126037.4 and AC159323.3. On or before Jun 20, 2019 this sequence version replaced XP_006519539.1, XP_619244.2, XP_913085.1, XP_992713.1, NP_963999.1. Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: DQ190419.1 [ECO:0000331] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2582 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="14" /map="14 26.84 cM" Protein 1..2582 /product="chromodomain-helicase-DNA-binding protein 8" /EC_number="3.6.4.12" /note="axis duplication inhibitor; helicase with SNF2 domain 1; ATP-dependent helicase CHD8" /calculated_mol_wt=290718 Region 22..111 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 61..>421 /region_name="SP1-4_N" /note="N-terminal domain of transcription factor Specificity Proteins (SP) 1-4; cl41773" /db_xref="CDD:425404" Region 136..155 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 253..283 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 349..377 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 434 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region <449..624 /region_name="PTZ00121" /note="MAEBL; Provisional" /db_xref="CDD:173412" Region 475..585 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 555 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 564 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 598..617 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 640..705 /region_name="CD1_tandem_CHD5-9_like" /note="repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins; cd18668" /db_xref="CDD:349315" Site order(644,674,676..677,681) /site_type="other" /note="peptide binding site [polypeptide binding]" /db_xref="CDD:349315" Region 723..781 /region_name="CD2_tandem_CHD5-9_like" /note="repeat 2 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins; cd18663" /db_xref="CDD:349310" Site order(748,765) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:349310" Region 812..>1411 /region_name="PLN03142" /note="Probable chromatin-remodeling complex ATPase chain; Provisional" /db_xref="CDD:215601" Region 813..1034 /region_name="DEAD-like_helicase_N" /note="N-terminal helicase domain of the DEAD-box helicase superfamily; cl28899" /db_xref="CDD:452890" Site order(840..846,950) /site_type="other" /note="putative ATP binding site [chemical binding]" /db_xref="CDD:350670" Region 950..953 /region_name="DEAH box. /evidence=ECO:0000255|HAMAP-Rule:MF_03071" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1422 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1426 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 1694..1715 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 1791..2304 /region_name="Interaction with FAM124B. /evidence=ECO:0000255|HAMAP-Rule:MF_03071" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1978 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1980 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 1990..2019 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1995 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1997 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9JIX5; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 1999 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2010 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2040 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:19144319; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 2045..2120 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2070 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2072 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2184 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 2187..2233 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2202 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2204 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2206 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2213 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2217 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2225 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9JIX5; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Region 2311..2354 /region_name="BRK" /note="BRK domain; pfam07533" /db_xref="CDD:429518" Region 2381..2420 /region_name="BRK" /note="BRK domain; cl02688" /db_xref="CDD:445886" Region 2486..2582 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" Site 2520 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9HCK8; propagated from UniProtKB/Swiss-Prot (Q09XV5.1)" CDS 1..2582 /gene="Chd8" /gene_synonym="5830451P18Rik; Chd-8; Duplin; HELSNF1; mKIAA1564" /coded_by="NM_201637.3:300..8048" /db_xref="CCDS:CCDS36919.1" /db_xref="GeneID:67772" /db_xref="MGI:MGI:1915022" ORIGIN 1 madpimdlfd dpnlfgldsl tddsfnqvtq dpieealglp ssldsldqmn qdggggdvgn 61 ssasdlvppp eetastelpk estapapesl tlhdyttqpt sqeqpaqpvl qtstptagll 121 qvsksqeils qgnpfmgvsa tgvspsntgg qpsqsapkiv ilkappnssv tgthvaqiqa 181 qgitstaqpl vagtanggkv tftkvltgtp lrpgvsivsg ntvlatkvpg nqaavqrivq 241 psrpvkqlvl qpvkgsapag npgaagpplk pavtltstpt qgeskritlv lqqpqsggpq 301 ghrhvvlgsl pgkivlqgnq laaltqakna qgqpakvvti qlqvqqpqqk iqivpqppss 361 qpqpqpqppp saqpltlssv qqaqimgpgq npgqrlsvpl kmvlqpqags sqgassglsv 421 vkvlsaseva alsspascap htagktgmee nrrlehqkkq ekanrivaea iararargeq 481 niprvlnede lpsvrpeeeg ekkrrkkssg erlkeekpkk sktaaasktk gksklntitp 541 vvgkkrkrnt ssdnsdvevm paqspredee ssiqkrrsnr qvkrkkyted ldikitddee 601 eeevdvtgpi kpepilpepv qepdgetlps mqffvenpse edaaivdkvl smrvvkkelp 661 sgqyteaeef fvkyknysyl hcewatisql ekdkrihqkl krfktkmaqm rhffhedeep 721 fnpdyvevdr ildeshsvdk dngepviyyl vkwcslpyed stwelkedvd egkirefkri 781 qsrhpelrrv nrpqanawkk lelsheyknr nqlreyqleg vnwllfnwyn rqnciladem 841 glgktiqsia flqevynvgi hgpflviapl stitnweref ntwtemntiv yhgslasrqm 901 iqqyemyckd srgrlipgay kfdalittfe milsdcpelr eiewrcviid eahrlknrnc 961 klldslkhmd lehkvlltgt plqntveelf sllhflepsq fpseseflkd fgdlkteeqv 1021 qklqailkpm mlrrlkedve knlapkqeti ieveltniqk kyyrailekn fsflskgagh 1081 tnmpnllntm melrkccnhp ylingaeeki lmefreachi ipqdfhlqam vrsagklvli 1141 dkllpklkag ghkvlifsqm vrcldiledy liqrrylyer idgrvrgnlr qaaidrfskp 1201 dsdrfvfllc tragglginl taadtciifd sdwnpqndlq aqarchrigq skavkvyrli 1261 trnsyeremf dkaslklgld kavlqsmsgr dgnitgiqqf skkeiedllr kgayaaimee 1321 ddegskfcee didqillrrt ttitiesegk gstfakasfv asenrtdisl ddpnfwqkwa 1381 kkadldmdll nsknnlvidt prvrkqtrhf stlkdddlve fsdlesedde rprsrrhdrh 1441 htygrtdcfr vekhllvygw grwrdilshg rfkrrmterd veticrailv ycllhyrgde 1501 niksfiwdli spaengktke lqnhsglsip vprgrkgkkv ksqstfdihk adwirkynpd 1561 tlfqdesykk hlkhqcnkvl lrvrmlyylr qevigdqaek vlggaiasei diwfpvvdql 1621 evpttwwdse adkslligvf khgyekyntm radpalcfle kagrpddkai aaehrvldnf 1681 sdlvegidfd kdcedpeykp lqgppkdpdd egdplmmmde eisvidgeea qvtqqpghlf 1741 wppgsaltar lrrlvtayqr sykreqmkme aaergdrrrr rceaafklke iarrekqqrw 1801 trreqtdfyr vvstfgveyd pdnmqfhwdr frtfarldkk tdesltkyfh gfvamcrqvc 1861 rlppaagdep pdpnlfiepi teerasrtly riellrrlre qvlchplled rlalcqppgl 1921 elpkwwepvr hdgellrgaa rhgvsqtdcn imqdpdfsfl aarmnymqnh qagasaasls 1981 rcstpllhqq ctsrtaspsp lrpdapveks peestvqvpn lesltlkled evvarsrlts 2041 qdyevrvgss dtaplsrsvp pvklededds dseldlskls psssssssss ssssstdese 2101 dekeekltad rsrpklydee sllsltmsqd gfpnedgeqm tpellllqer qrasewpkdr 2161 vlinridlvc qavlsgkwps nrrsqevtag gilgpgnhll dspsltpged gdspvptprs 2221 gsaasmaeee asavttaaaq ftklrrgmde keftvqikde eglkltfqkh rlmangvmgd 2281 ghplfhkkkg nrkklvelev ecmeepnhld ldletripvi nkvdgtllvg deaprraele 2341 mwlqghpefa vdprflayme errkqkwqrc kknnkaelnc lgmepvqpan srngkkghya 2401 etafnrvlpg pvapenskkr vrrtrpdlsk mmalmqggst gslslhntfq hsssnlqsvs 2461 slghssttsa slpfmpfvmg aaapphvdss tmlhhhhhhp hphhhhhhhp glrttgypss 2521 patttsgtal rlptlqpedd deeedeeddd lsqgydsser dfsliddpmm pansdsseda 2581 dd // LOCUS NP_001349257 474 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 46 [Mus musculus]. ACCESSION NP_001349257 XP_017173285 VERSION NP_001349257.1 DBSOURCE REFSEQ: accession NM_001362328.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 474) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 474) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 474) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 474) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 474) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 474) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 474) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 474) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 474) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 474) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173285.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.177295.1, SRR1660821.111324.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..474 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..474 /product="CUGBP Elav-like family member 4 isoform 46" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50589 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..463 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..474 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362328.1:531..1955" /note="isoform 46 is encoded by transcript variant 48" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda nrpy // LOCUS NP_001349219 524 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 15 [Mus musculus]. ACCESSION NP_001349219 VERSION NP_001349219.1 DBSOURCE REFSEQ: accession NM_001362290.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 524) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 524) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 524) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 524) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 524) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 524) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 524) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 524) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 524) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 524) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..524 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..524 /product="CUGBP Elav-like family member 4 isoform 15" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=55752 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..>433 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..524 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362290.1:531..2105" /note="isoform 15 is encoded by transcript variant 21" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagpaay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt drhpgherlp 481 drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgrml nglh // LOCUS NP_001390658 734 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 3 [Mus musculus]. ACCESSION NP_001390658 XP_036009640 VERSION NP_001390658.1 DBSOURCE REFSEQ: accession NM_001403729.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 734) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 734) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 734) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 734) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 734) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 734) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 734) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 734) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 734) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 734) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. On Apr 4, 2022 this sequence version replaced XP_036009640.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422600.2077717.1, SRR13422590.461684.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..734 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..734 /product="transcriptional repressor CTCF isoform 3" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83443 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 697..724 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..734 /gene="Ctcf" /coded_by="NM_001403729.1:327..2531" /note="isoform 3 is encoded by transcript variant 9" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqpiiqv edqntgaien iivevkkepd aepaegeeee aqaattdapn 721 gdltpemils mmdr // LOCUS NP_001349210 535 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 7 [Mus musculus]. ACCESSION NP_001349210 XP_017173276 VERSION NP_001349210.1 DBSOURCE REFSEQ: accession NM_001362281.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 535) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 535) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 535) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 535) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 535) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 535) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 535) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 535) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 535) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 535) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173276.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.266509.1, SRR7652917.792026.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..535 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..535 /product="CUGBP Elav-like family member 4 isoform 7" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56900 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 150..230 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(152,154,156..157,160,179,181,183,191..193,195,225, 227) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 238..257 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..>444 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..535 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362281.1:531..2138" /note="isoform 7 is encoded by transcript variant 13" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsh rklfvgmlnk qqseddvrrl feafgnieec 181 tilrgpdgns kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm 241 qqmagqmgmf npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgrhpvps rcqapscqgg qcaisssarr lrelrqpgqr 481 tdrhpgherl pdrheeaqga aeaaqrrqsp vlsaggsvpr grpglaqgrm lnglh // LOCUS NP_001263337 2386 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform b precursor [Mus musculus]. ACCESSION NP_001263337 VERSION NP_001263337.1 DBSOURCE REFSEQ: accession NM_001276408.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2386) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2386) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2386) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2386) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2386) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2386) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2386) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2386) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2386) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2386) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, CJ099024.1, CN534124.1, AK147683.1, AK147249.1 and AC124821.5. Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK147683.1, SRR17253014.449505.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164142 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2386 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2386 /product="fibronectin isoform b precursor" /calculated_mol_wt=260064 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1267..1348 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1358..1438 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1450..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1525..1526,1528..1529) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1542..1622 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1619..1620,1622..1623) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1632..1712 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1722..1802 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1799..1800,1802..1803) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1814..1893 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1890..1891,1893..1894) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1903..1983 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 2119..2174 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2205..2249 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2250..2291 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2293..2332 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2386 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_001276408.1:253..7413" /note="isoform b precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS78612.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpavpppt dlrftnigpd tmrvtwappp sieltnllvr yspvkneedv aelsispsdn 1321 avvltnllpg teylvsvssv yeqhesiplr grqktgldsp tgfdssdita nsftvhwvap 1381 rapitgyiir hhaehsvgrp rqdrvppsrn sitltnlnpg teyvvsiiav ngreesppli 1441 gqqatvsdip rdleviastp tslliswepp avsvryyrit ygetggnspv qeftvpgsks 1501 tatinnikpg adytitlyav tgrgdspass kpvsinykte idkpsqmqvt dvqdnsisvr 1561 wlpstspvtg yrvtttpkng lgpsktktas pdqtemtieg lqptveyvvs vyaqnrnges 1621 qplvqtavtn idrpkglaft dvdvdsikia wespqgqvsr yrvtyssped girelfpapd 1681 geddtaelqg lrpgseytvs vvalhddmes qpligiqsta ipaptnlkfs qvtptsftaq 1741 wiapsvqltg yrvrvnpkek tgpmkeinls pdsssvivsg lmvatkyevs vyalkdtlts 1801 rpaqgvittl envspprrar vtdatettit iswrtkteti tgfqvdaipa ngqtpvqrsi 1861 spdvrsytit glqpgtdyki hlytlndnar sspviidast aidapsnlrf ltttpnsllv 1921 swqaprarit gyiikyekpg spprevvprp rpgvteatit glepgteyti yvialknnqk 1981 sepligrkkt delpqlvtlp hpnlhgpeil dvpstvqktp fitnpgydte ngiqlpgtth 2041 qqpsvgqqmi feehgfrrtt pptaatpvrl rprpylpnvd eevqighvpr gdvdyhlyph 2101 vpglnpnast gqealsqtti swtpfqesse yiiscqpvgt deeplqfqvp gtstsatltg 2161 ltrgvtynii vealqnqrrh kvreevvtvg navseglnqp tddscfdpyt vshyaigeew 2221 erlsdagfkl tcqclgfgsg hfrcdsskwc hdngvnykig ekwdrqgeng qrmsctclgn 2281 gkgefkcdph eatcyddgkt yhvgeqwqke ylgaicsctc fggqrgwrcd ncrrpgaaep 2341 spdgttghty nqytqrynqr tntnvncpie cfmpldvqad rddsre // LOCUS NP_031984 1021 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1 [Mus musculus]. ACCESSION NP_031984 XP_132597 VERSION NP_031984.1 DBSOURCE REFSEQ: accession NM_007958.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1021) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1021) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 1021) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 1021) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1021) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1021) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 1021) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 1021) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 1021) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 1021) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4 and AC143330.4. On May 17, 2005 this sequence version replaced XP_132597.3. Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 5 encode the same protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK122454.1, X69942.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1021 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..1021 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=116321 Region 1..82 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 54 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 57 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 79 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 124..151 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 124 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 127 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 132 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 144 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 145 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 151 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 201..246 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 210 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 213 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 235 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 238 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Site 298 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9H4L7; propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 329..366 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 471..>993 /region_name="PLN03142" /note="Probable chromatin-remodeling complex ATPase chain; Provisional" /db_xref="CDD:215601" Region 492..674 /region_name="DEXHc_SMARCAD1" /note="DEXH-box helicase domain of SMARCAD1; cd17998" /db_xref="CDD:350756" Site order(519..525,558,623..624) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350756" Region 623..626 /region_name="DEGH box" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 716..733 /region_name="Nuclear localization signal. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" Region 1000..1003 /region_name="DEAD box" /note="propagated from UniProtKB/Swiss-Prot (Q04692.2)" CDS 1..1021 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_007958.3:192..3257" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS20204.1" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mnlfnldrfr fekrskieea peaapqpsqa rpsspislsa eeenaegegs rantpdsdvt 61 ektedssvpe ppdnerkasl scfqnqraiq eyidlssdte dvspncsstv qekkfskdtv 121 iivsepsede eshdlpsvtr rndsseledl seledlkdak lqtlkelfpq rsdsdllkli 181 eststmdgai aaallmfgda gggprkrkls ssseeddvnd dqsvkqprgd rgeesnesae 241 assnwekqes ivlklqkefp nfdkqelrev lkehewmyte aleslkvfae dqdvqcasqs 301 evtngkevar nqnysknatk ikmkqkisvk pqngfnkkrk knvfnpkkav edseydsgsd 361 agssldedys sceevmedgy kgkilhflqv ssiaeltlip kcsqkkaqki telrpfnnwe 421 alftkmskin glsedliwnc ktviqerdvv irlmnkcedi snkltkqvtm ltgngggwnr 481 eqpsllnqsl slkpyqkvgl nwlalvhkhg lngilademg lgktiqaiaf laylfqegnk 541 gphlivvpas tidnwlrevn lwcpslnvlc yygsqeerkq irfnihnkye dynvivttyn 601 caisssddrs lfrrlklnya ifdeghmlkn mgsiryqhlm tinarnrlll tgtpvqnnll 661 elmsllnfvm phmfssstse irrmfssktk padeqsiyek eriahakqii kpfilrrvke 721 evlkllppkk drielcamse kqeqlysglf nrlkksinnl ekntemcnvm mqlrkmanhp 781 llhrqyytpe klkemsqlml kepthceanp dlifedmevm tdfelhvlck qyqhinsyql 841 dmdlildsgk fralgcilse lkqkgdrvvl fsqftmmldi levllkhhqh rylrldgktq 901 iserihlide fntdmdifvf llstkagglg inltsanvvi lhdidcnpyn dkqaedrchr 961 vgqtkevlvi klisqgtiee smlkinqqkl kleqdmttvd eadegsmpad iatllktsmg 1021 l // LOCUS NP_035707 390 aa linear ROD 09-OCT-2023 DEFINITION transforming growth factor beta-1 proprotein preproprotein [Mus musculus]. ACCESSION NP_035707 XP_357724 VERSION NP_035707.1 DBSOURCE REFSEQ: accession NM_011577.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 390) AUTHORS Riehl DR, Sharma A, Roewe J, Murke F, Ruppert C, Eming SA, Bopp T, Kleinert H, Radsak MP, Colucci G, Subramaniam S, Reinhardt C, Giebel B, Prinz I, Guenther A, Strand D, Gunzer M, Waisman A, Ward PA, Ruf W, Schafer K and Bosmann M. TITLE Externalized histones fuel pulmonary fibrosis via a platelet-macrophage circuit of TGFbeta1 and IL-27 JOURNAL Proc Natl Acad Sci U S A 120 (40), e2215421120 (2023) PUBMED 37756334 REMARK GeneRIF: Externalized histones fuel pulmonary fibrosis via a platelet-macrophage circuit of TGFbeta1 and IL-27. REFERENCE 2 (residues 1 to 390) AUTHORS De Chiara L, Semeraro R, Mazzinghi B, Landini S, Molli A, Antonelli G, Angelotti ML, Melica ME, Maggi L, Conte C, Peired AJ, Cirillo L, Raglianti V, Magi A, Annunziato F, Romagnani P and Lazzeri E. TITLE Polyploid tubular cells initiate a TGF-beta1 controlled loop that sustains polyploidization and fibrosis after acute kidney injury JOURNAL Am J Physiol Cell Physiol 325 (4), C849-C861 (2023) PUBMED 37642236 REMARK GeneRIF: Polyploid tubular cells initiate a TGF-beta1 controlled loop that sustains polyploidization and fibrosis after acute kidney injury. REFERENCE 3 (residues 1 to 390) AUTHORS Cai X, Li M, Zhong Y, Yang W and Liang Z. TITLE COMP Improves Ang-II-Induced Atrial Fibrillation via TGF-beta Signaling Pathway JOURNAL Cardiovasc Toxicol 23 (9-10), 305-316 (2023) PUBMED 37584842 REMARK GeneRIF: COMP Improves Ang-II-Induced Atrial Fibrillation via TGF-beta Signaling Pathway. REFERENCE 4 (residues 1 to 390) AUTHORS Wang Y, Hong L, Jiang J, Zhang X, Chen J and Diao H. TITLE Osteopontin May Improve Postinjury Muscle Repair Via Matrix Metalloproteinases And tgf-beta Activation in Regular Exercise JOURNAL Int J Med Sci 20 (9), 1202-1211 (2023) PUBMED 37575268 REMARK GeneRIF: Osteopontin May Improve Postinjury Muscle Repair Via Matrix Metalloproteinases And tgf-beta Activation in Regular Exercise. Publication Status: Online-Only REFERENCE 5 (residues 1 to 390) AUTHORS Kmiec P, Rosenkranz S, Odenthal M and Caglayan E. TITLE Differential Role of Aldosterone and Transforming Growth Factor Beta-1 in Cardiac Remodeling JOURNAL Int J Mol Sci 24 (15), 12237 (2023) PUBMED 37569619 REMARK GeneRIF: Differential Role of Aldosterone and Transforming Growth Factor Beta-1 in Cardiac Remodeling. Publication Status: Online-Only REFERENCE 6 (residues 1 to 390) AUTHORS Ferguson MW, Sharpe PM, Thomas BL and Beck F. TITLE Differential expression of insulin-like growth factors I and II (IGF I and II), mRNA, peptide and binding protein 1 during mouse palate development: comparison with TGF beta peptide distribution JOURNAL J Anat 181 (Pt 2) (Pt 2), 219-238 (1992) PUBMED 1284245 REFERENCE 7 (residues 1 to 390) AUTHORS Hannon K, Smith CK 2nd, Bales KR and Santerre RF. TITLE Temporal and quantitative analysis of myogenic regulatory and growth factor gene expression in the developing mouse embryo JOURNAL Dev Biol 151 (1), 137-144 (1992) PUBMED 1374351 REFERENCE 8 (residues 1 to 390) AUTHORS Liu Y, Jones B, Aruffo A, Sullivan KM, Linsley PS and Janeway CA Jr. TITLE Heat-stable antigen is a costimulatory molecule for CD4 T cell growth JOURNAL J Exp Med 175 (2), 437-445 (1992) PUBMED 1346270 REFERENCE 9 (residues 1 to 390) AUTHORS Manova K, Paynton BV and Bachvarova RF. TITLE Expression of activins and TGF beta 1 and beta 2 RNAs in early postimplantation mouse embryos and uterine decidua JOURNAL Mech Dev 36 (3), 141-152 (1992) PUBMED 1373953 REFERENCE 10 (residues 1 to 390) AUTHORS de Larco,J.E. and Todaro,G.J. TITLE Growth factors from murine sarcoma virus-transformed cells JOURNAL Proc Natl Acad Sci U S A 75 (8), 4001-4005 (1978) PUBMED 211512 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC162614.2, AA510019.1, CK625059.1, AA821506.1 and BQ030974.1. On Dec 17, 2003 this sequence version replaced XP_357724.1. Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ009862.1, BC013738.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..390 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="7" /map="7 13.98 cM" Protein 1..390 /product="transforming growth factor beta-1 proprotein preproprotein" /note="transforming growth factor beta-1 proprotein" /calculated_mol_wt=41268 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3060 mat_peptide 30..278 /product="Latency-associated peptide. /evidence=ECO:0000250|UniProtKB:P01137. /id=PRO_0000033766" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" /calculated_mol_wt=28475 Region 30..261 /region_name="TGFb_propeptide" /note="TGF-beta propeptide; pfam00688" /db_xref="CDD:425823" Region 30..74 /region_name="Straightjacket domain. /evidence=ECO:0000250|UniProtKB:P07200" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" Region 75..271 /region_name="Arm domain. /evidence=ECO:0000250|UniProtKB:P07200" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" Site 82 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P04202.1)" Site 136 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P04202.1)" Site 176 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P04202.1)" Region 226..252 /region_name="Bowtie tail. /evidence=ECO:0000250|UniProtKB:P01137" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" Region 244..246 /region_name="Cell attachment site. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" Site 278..279 /site_type="cleavage" /note="Cleavage, by FURIN. /evidence=ECO:0000250|UniProtKB:P01137; propagated from UniProtKB/Swiss-Prot (P04202.1)" mat_peptide 279..390 /product="Transforming growth factor beta-1. /evidence=ECO:0000250|UniProtKB:P01137. /id=PRO_0000033767" /note="propagated from UniProtKB/Swiss-Prot (P04202.1)" /calculated_mol_wt=12811 Region 292..390 /region_name="TGF_beta_TGFB1" /note="transforming growth factor beta (TGF-beta) like domain found in transforming growth factor beta-1 (TGF-beta-1) and similar proteins; cd19384" /db_xref="CDD:381654" Site order(298..300,302,304..306,308,317,319..323,334..336, 338..340,342..343,346..347,351..353,355..358,361,379..384, 390) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:381654" CDS 1..390 /gene="Tgfb1" /gene_synonym="TGF-beta1; Tgfb; Tgfb-1; TGFbeta1" /coded_by="NM_011577.2:868..2040" /db_xref="CCDS:CCDS20993.1" /db_xref="GeneID:21803" /db_xref="MGI:MGI:98725" ORIGIN 1 mppsglrllp lllplpwllv ltpgrpaagl stcktidmel vkrkrieair gqilsklrla 61 sppsqgevpp gplpeavlal ynstrdrvag esadpepepe adyyakevtr vlmvdrnnai 121 yektkdishs iymffntsdi reavpeppll sraelrlqrl kssveqhvel yqkysnnswr 181 ylgnrlltpt dtpewlsfdv tgvvrqwlnq gdgiqgfrfs ahcscdskdn klhveingis 241 pkrrgdlgti hdmnrpflll matpleraqh lhssrhrral dtnycfsste knccvrqlyi 301 dfrkdlgwkw ihepkgyhan fclgpcpyiw sldtqyskvl alynqhnpga saspccvpqa 361 leplpivyyv grkpkveqls nmivrsckcs // LOCUS NP_001298077 201 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein kinase Nek7 isoform 2 [Mus musculus]. ACCESSION NP_001298077 XP_006529833 VERSION NP_001298077.1 DBSOURCE REFSEQ: accession NM_001311148.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 201) AUTHORS Park YJ, Dodantenna N, Kim Y, Kim TH, Lee HS, Yoo YS, Heo J, Lee JH, Kwon MH, Kang HC, Lee JS and Cho H. TITLE MARCH5-dependent NLRP3 ubiquitination is required for mitochondrial NLRP3-NEK7 complex formation and NLRP3 inflammasome activation JOURNAL EMBO J 42 (19), e113481 (2023) PUBMED 37575012 REMARK GeneRIF: MARCH5-dependent NLRP3 ubiquitination is required for mitochondrial NLRP3-NEK7 complex formation and NLRP3 inflammasome activation. REFERENCE 2 (residues 1 to 201) AUTHORS Sun W, Yue M, Xi G, Wang K and Sai J. TITLE Knockdown of NEK7 alleviates anterior cruciate ligament transection osteoarthritis (ACLT)-induced knee osteoarthritis in mice via inhibiting NLRP3 activation JOURNAL Autoimmunity 55 (6), 398-407 (2022) PUBMED 35798413 REMARK GeneRIF: Knockdown of NEK7 alleviates anterior cruciate ligament transection osteoarthritis (ACLT)-induced knee osteoarthritis in mice via inhibiting NLRP3 activation. REFERENCE 3 (residues 1 to 201) AUTHORS Zhang M, Zhi D, Lin J, Liu P, Wang Y and Duan M. TITLE miR-181a-5p Inhibits Pyroptosis in Sepsis-Induced Acute Kidney Injury through Downregulation of NEK7 JOURNAL J Immunol Res 2022, 1825490 (2022) PUBMED 35991122 REMARK GeneRIF: miR-181a-5p Inhibits Pyroptosis in Sepsis-Induced Acute Kidney Injury through Downregulation of NEK7. Publication Status: Online-Only REFERENCE 4 (residues 1 to 201) AUTHORS Wu G, Zhang D, Yang L, Wu Q and Yuan L. TITLE MicroRNA-200c-5p targets NIMA Related Kinase 7 (NEK7) to inhibit NOD-like receptor 3 (NLRP3) inflammasome activation, MODE-K cell pyroptosis, and inflammatory bowel disease in mice JOURNAL Mol Immunol 146, 57-68 (2022) PUBMED 35447415 REMARK GeneRIF: MicroRNA-200c-5p targets NIMA Related Kinase 7 (NEK7) to inhibit NOD-like receptor 3 (NLRP3) inflammasome activation, MODE-K cell pyroptosis, and inflammatory bowel disease in mice. REFERENCE 5 (residues 1 to 201) AUTHORS Jeltema D, Wang J, Cai J, Kelley N, Yang Z and He Y. TITLE A Single Amino Acid Residue Defines the Difference in NLRP3 Inflammasome Activation between NEK7 and NEK6 JOURNAL J Immunol 208 (8), 2029-2036 (2022) PUBMED 35354613 REMARK GeneRIF: A Single Amino Acid Residue Defines the Difference in NLRP3 Inflammasome Activation between NEK7 and NEK6. REFERENCE 6 (residues 1 to 201) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 7 (residues 1 to 201) AUTHORS Morrish TA, Gilbert N, Myers JS, Vincent BJ, Stamato TD, Taccioli GE, Batzer MA and Moran JV. TITLE DNA repair mediated by endonuclease-independent LINE-1 retrotransposition JOURNAL Nat Genet 31 (2), 159-165 (2002) PUBMED 12006980 REFERENCE 8 (residues 1 to 201) AUTHORS Feige E and Motro B. TITLE The related murine kinases, Nek6 and Nek7, display distinct patterns of expression JOURNAL Mech Dev 110 (1-2), 219-223 (2002) PUBMED 11744387 REMARK GeneRIF: During early embryogenesis nek7 is expressed in the site of decidual reaction. Later in embryogenesis, nek7 is highly expressed in the dorsal thalamus. REFERENCE 9 (residues 1 to 201) AUTHORS Kimura M and Okano Y. TITLE Identification and assignment of the human NIMA-related protein kinase 7 gene (NEK7) to human chromosome 1q31.3 JOURNAL Cytogenet Cell Genet 94 (1-2), 33-38 (2001) PUBMED 11701951 REFERENCE 10 (residues 1 to 201) AUTHORS Kandli M, Feige E, Chen A, Kilfin G and Motro B. TITLE Isolation and characterization of two evolutionarily conserved murine kinases (Nek6 and nek7) related to the fungal mitotic regulator, NIMA JOURNAL Genomics 68 (2), 187-196 (2000) PUBMED 10964517 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC118216.15 and AC161436.4. On Jul 24, 2015 this sequence version replaced XP_006529833.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK165583.1, SRR7652917.642804.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164138, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..201 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 60.82 cM" Protein 1..201 /product="serine/threonine-protein kinase Nek7 isoform 2" /EC_number="2.7.11.34" /note="NIMA-related kinase 7; serine/threonine-protein kinase Nek7; nimA-related protein kinase 7; never in mitosis A-related kinase 7; NIMA-related expressed kinase 7" /calculated_mol_wt=22592 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Site 5 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Region 9..>199 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Region 20..33 /region_name="NTE motif. /evidence=ECO:0000250|UniProtKB:Q8TDX7" /note="propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Site order(40..43,46,48,61,63,95,111..114,161,165..166,168, 178..179) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270870" Site 97 /site_type="other" /note="Autoinhibitory. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" Site 195 /site_type="phosphorylation" /note="Phosphoserine, by NEK9. /evidence=ECO:0000250|UniProtKB:Q8TDX7; propagated from UniProtKB/Swiss-Prot (Q9ES74.1)" CDS 1..201 /gene="Nek7" /gene_synonym="2810460C19Rik" /coded_by="NM_001311148.2:219..824" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS78695.1" /db_xref="GeneID:59125" /db_xref="MGI:MGI:1890645" ORIGIN 1 mdeqsqgmqg ppvtqfqpqk alrpdmgynt lanfriekki grgqfsevyr asclldgvpv 61 alkkvqifdl mdakaradci keidllkqln hpnvikyyas fiednelniv leladagdls 121 rmikhfkkqk rlipertvwk yfvqlcsald hmhsrrvmhr dikpanvfit atgvvklgdl 181 glgrffsskt taahslatta s // LOCUS NP_001351566 385 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 4 [Mus musculus]. ACCESSION NP_001351566 VERSION NP_001351566.1 DBSOURCE REFSEQ: accession NM_001364637.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 385) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 385) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 385) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 385) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 385) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 385) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 385) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 385) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 385) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 385) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2, AC108802.15 and CT009504.11. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.10381.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..385 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..385 /product="RNA-binding protein Nova-1 isoform 4" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=38594 Region 50..119 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(61..63,65..69,72..73,83..85,87..89,97) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 300..370 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(308..309,311..313,315..319,322..323,333..339,341, 346,348) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..385 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364637.1:633..1790" /note="isoform 4 is encoded by transcript variant 5" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mpqnvaktep vsilqpqttv npdrikqtlp ssptttkssp sdpmttsran qvkiivpnst 61 agliigkgga tvkaimeqsg awvqlsqkpd ginlqervvt vsgepeqnrk aveliiqkiq 121 edpqsgscln isyanvtgpv ansnptgspy antaevlpta aaaagllgha nlagvaafpa 181 vlsgftgndl vaitsalntl asygynlntl glglsqaaat galaaaaasa npaaaaanll 241 atyaseasas gstaggtagt falgslaaat aatngyfgaa splaasailg tekstdgskd 301 vveiavpenl vgailgkggk tlveyqeltg ariqiskkge fvpgtrnrkv titgtpaatq 361 aaqylitqri tyeqgvraan pqkvg // LOCUS NP_705809 278 aa linear ROD 09-OCT-2023 DEFINITION neuronal membrane glycoprotein M6-a isoform 1 [Mus musculus]. ACCESSION NP_705809 VERSION NP_705809.1 DBSOURCE REFSEQ: accession NM_153581.6 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 278) AUTHORS Li L, Sun Y, Davis AE, Shah SH, Hamed LK, Wu MR, Lin CH, Ding JB and Wang S. TITLE Mettl14-mediated m6A modification ensures the cell-cycle progression of late-born retinal progenitor cells JOURNAL Cell Rep 42 (6), 112596 (2023) PUBMED 37269288 REMARK GeneRIF: Mettl14-mediated m[6]A modification ensures the cell-cycle progression of late-born retinal progenitor cells. REFERENCE 2 (residues 1 to 278) AUTHORS Xie W, Zhang A, Huang X, Zhou H, Ying H, Ye C, Ren M, Qian M, Liu X and Mo Y. TITLE SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION JOURNAL Shock 59 (5), 791-802 (2023) PUBMED 36877222 REMARK GeneRIF: SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION. REFERENCE 3 (residues 1 to 278) AUTHORS Xue A, Huang Y, Li M, Wei Q and Bu Q. TITLE Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice JOURNAL Mol Neurobiol 58 (8), 3759-3768 (2021) PUBMED 33826069 REMARK GeneRIF: Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice. REFERENCE 4 (residues 1 to 278) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 278) AUTHORS Ogawa T, Li Y, Lua I, Hartner A and Asahina K. TITLE Isolation of a unique hepatic stellate cell population expressing integrin alpha8 from embryonic mouse livers JOURNAL Dev Dyn 247 (6), 867-881 (2018) PUBMED 29665133 REFERENCE 6 (residues 1 to 278) AUTHORS Yan Y, Narayanan V and Lagenaur C. TITLE Expression of members of the proteolipid protein gene family in the developing murine central nervous system JOURNAL J Comp Neurol 370 (4), 465-478 (1996) PUBMED 8807448 REFERENCE 7 (residues 1 to 278) AUTHORS Olinsky S, Loop BT, DeKosky A, Ripepi B, Weng W, Cummins J, Wenger SL, Yan Y, Lagenaur C and Narayanan V. TITLE Chromosomal mapping of the human M6 genes JOURNAL Genomics 33 (3), 532-536 (1996) PUBMED 8661015 REFERENCE 8 (residues 1 to 278) AUTHORS Shimizu F, Watanabe TK, Fujiwara T, Takahashi E, Nakamura Y and Maekawa H. TITLE Isolation and mapping of the human glycoprotein M6 gene (GPM6A) to 4q33-->q34 JOURNAL Cytogenet Cell Genet 74 (1-2), 138-139 (1996) PUBMED 8893821 REFERENCE 9 (residues 1 to 278) AUTHORS Yan Y, Lagenaur C and Narayanan V. TITLE Molecular cloning of M6: identification of a PLP/DM20 gene family JOURNAL Neuron 11 (3), 423-431 (1993) PUBMED 8398137 REFERENCE 10 (residues 1 to 278) AUTHORS Baumrind NL, Parkinson D, Wayne DB, Heuser JE and Pearlman AL. TITLE EMA: a developmentally regulated cell-surface glycoprotein of CNS neurons that is concentrated at the leading edge of growth cones JOURNAL Dev Dyn 194 (4), 311-325 (1992) PUBMED 1286213 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY247392.1, AK081877.1 and BC033357.1. Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.29214.1, SRR1660817.260648.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..278 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 29.33 cM" Protein 1..278 /product="neuronal membrane glycoprotein M6-a isoform 1" /note="neuronal membrane glycoprotein M6-a" /calculated_mol_wt=31018 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P51674; propagated from UniProtKB/Swiss-Prot (P35802.1)" Region 15..247 /region_name="Myelin_PLP" /note="Myelin proteolipid protein (PLP or lipophilin); pfam01275" /db_xref="CDD:426173" Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 85..105 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 128..148 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 164 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 208 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 214..234 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 256 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (P35802.1)" Site 278 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q812E9; propagated from UniProtKB/Swiss-Prot (P35802.1)" CDS 1..278 /gene="Gpm6a" /gene_synonym="Gpm6; M6A" /coded_by="NM_153581.6:552..1388" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS22310.1" /db_xref="GeneID:234267" /db_xref="MGI:MGI:107671" ORIGIN 1 meenmeegqt qkgcfeccik clggipyasl iatillyagv alfcgcghea lsgtvnilqt 61 yfelartagd tldvftmidi fkyviygiaa affvygillm vegffttgai kdlygdfkit 121 tcgrcvsawf imltylfmla wlgvtaftsl pvymyfnvwt icrnttlveg anlcldlrqf 181 givtigeekk ictasenflr mcestelnmt fhlfivalag agaaviamvh ylmvlsanwa 241 yvkdacrmqk yedikskeeq elhdihstrs kerlnayt // LOCUS NP_001405796 188 aa linear ROD 09-OCT-2023 DEFINITION DDRGK domain-containing protein 1 isoform c [Mus musculus]. ACCESSION NP_001405796 VERSION NP_001405796.1 DBSOURCE REFSEQ: accession NM_001418867.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 188) AUTHORS Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A and Zhao J. TITLE Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia JOURNAL Int J Biol Sci 19 (15), 4709-4725 (2023) PUBMED 37781516 REMARK GeneRIF: Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 188) AUTHORS Tandra V, Anderson T, Ayala JD, Weintraub NL, Singh N, Li H and Li J. TITLE Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis JOURNAL Cells 12 (15), 1923 (2023) PUBMED 37566002 REMARK GeneRIF: Ufmylation of UFBP1 Is Dispensable for Endoplasmic Reticulum Stress Response, Embryonic Development, and Cardiac and Intestinal Homeostasis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 188) AUTHORS Chen F, Sheng L, Zhou T, Yan L, Loveless R, Li H, Teng Y and Cai Y. TITLE Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling JOURNAL J Exp Clin Cancer Res 42 (1), 110 (2023) PUBMED 37131258 REMARK GeneRIF: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling. Publication Status: Online-Only REFERENCE 4 (residues 1 to 188) AUTHORS Li H, Yu Z, Niu Z, Cheng Y, Wei Z, Cai Y, Ma F, Hu L, Zhu J and Zhang W. TITLE A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila JOURNAL Cell Mol Life Sci 80 (5), 129 (2023) PUBMED 37086384 REMARK GeneRIF: A neuroprotective role of Ufmylation through Atg9 in the aging brain of Drosophila. Publication Status: Online-Only REFERENCE 5 (residues 1 to 188) AUTHORS Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B and Bae Y. TITLE DDRGK1 is required for the proper development and maintenance of the growth plate cartilage JOURNAL Hum Mol Genet 31 (16), 2820-2830 (2022) PUBMED 35377455 REFERENCE 6 (residues 1 to 188) AUTHORS Yoo HM, Kang SH, Kim JY, Lee JE, Seong MW, Lee SW, Ka SH, Sou YS, Komatsu M, Tanaka K, Lee ST, Noh DY, Baek SH, Jeon YJ and Chung CH. TITLE Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development JOURNAL Mol Cell 56 (2), 261-274 (2014) PUBMED 25219498 REFERENCE 7 (residues 1 to 188) AUTHORS Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM and Parkinson H. TITLE The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data JOURNAL Nucleic Acids Res 42 (Database issue), D802-D809 (2014) PUBMED 24194600 REFERENCE 8 (residues 1 to 188) AUTHORS Lemaire K, Moura RF, Granvik M, Igoillo-Esteve M, Hohmeier HE, Hendrickx N, Newgard CB, Waelkens E, Cnop M and Schuit F. TITLE Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis JOURNAL PLoS One 6 (4), e18517 (2011) PUBMED 21494687 REMARK GeneRIF: These data suggest that UFM1-UFBP1 participate in preventing endoplasmic reticulum stress-induced apoptosis in protein secretory cells. Publication Status: Online-Only REFERENCE 9 (residues 1 to 188) AUTHORS Wu J, Lei G, Mei M, Tang Y and Li H. TITLE A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling JOURNAL J Biol Chem 285 (20), 15126-15136 (2010) PUBMED 20228063 REFERENCE 10 (residues 1 to 188) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL772162.4 and AL731707.12. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422591.80764.1, SRR17253011.3542433.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..188 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 63.24 cM" Protein 1..188 /product="DDRGK domain-containing protein 1 isoform c" /note="DDRGK domain-containing protein 1; UFM1-binding protein 1 containing a PCI domain; UFM1-binding and PCI domain-containing protein 1" /calculated_mol_wt=21947 Region 20..177 /region_name="DDRGK" /note="DDRGK domain; pfam09756" /db_xref="CDD:370664" CDS 1..188 /gene="Ddrgk1" /gene_synonym="1110001I20Rik; 2600009E05Rik; Ufbp1" /coded_by="NM_001418867.1:296..862" /note="isoform c is encoded by transcript variant 4" /db_xref="GeneID:77006" /db_xref="MGI:MGI:1924256" ORIGIN 1 mrmwvkllfq aeeaereerk rlesqreaew kkeeerlrlk eeqkeeeerk aqeeqarreh 61 eeylklkeaf vveeegvset mteeqshsfl tefinyikks kvvlledlaf qmglrtqdai 121 nriqdllteg tltgviddrg kfiyitpeel aavanfirqr grvsitelaq asnsliswgq 181 dlpaqasa // LOCUS NP_035934 220 aa linear ROD 09-OCT-2023 DEFINITION protein CREG1 precursor [Mus musculus]. ACCESSION NP_035934 XP_358337 VERSION NP_035934.1 DBSOURCE REFSEQ: accession NM_011804.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 220) AUTHORS Zeng S, Du L, Lu G and Xing Y. TITLE CREG Protects Retinal Ganglion Cells loss and Retinal Function Impairment Against ischemia-reperfusion Injury in mice via Akt Signaling Pathway JOURNAL Mol Neurobiol 60 (10), 6018-6028 (2023) PUBMED 37402034 REMARK GeneRIF: CREG Protects Retinal Ganglion Cells loss and Retinal Function Impairment Against ischemia-reperfusion Injury in mice via Akt Signaling Pathway. REFERENCE 2 (residues 1 to 220) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 3 (residues 1 to 220) AUTHORS Song H, Li J, Peng C, Liu D, Mei Z, Yang Z, Tian X, Zhang X, Jing Q, Yan C and Han Y. TITLE The role of CREG1 in megakaryocyte maturation and thrombocytopoiesis JOURNAL Int J Biol Sci 19 (11), 3614-3627 (2023) PUBMED 37496998 REMARK GeneRIF: The role of CREG1 in megakaryocyte maturation and thrombocytopoiesis. Publication Status: Online-Only REFERENCE 4 (residues 1 to 220) AUTHORS Goto A, Endo Y and Yamashita H. TITLE CREG1 stimulates AMPK phosphorylation and glucose uptake in skeletal muscle cells JOURNAL Biochem Biophys Res Commun 641, 162-167 (2023) PUBMED 36528955 REMARK GeneRIF: CREG1 stimulates AMPK phosphorylation and glucose uptake in skeletal muscle cells. REFERENCE 5 (residues 1 to 220) AUTHORS Wu M, Yin F, Wei X, Ren R, Chen C, Liu M, Wang R, Yang L, Xie R, Jiang S, Wang Z, Liu R, Xu W, Wang X, Li J and Wang H. TITLE Hepatocyte-specific deletion of cellular repressor of E1A-stimulated genes 1 exacerbates alcohol-induced liver injury by activating stress kinases JOURNAL Int J Biol Sci 18 (4), 1612-1626 (2022) PUBMED 35280676 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 220) AUTHORS Schahs P, Weidinger P, Probst OC, Svoboda B, Stadlmann J, Beug H, Waerner T and Mach L. TITLE Cellular repressor of E1A-stimulated genes is a bona fide lysosomal protein which undergoes proteolytic maturation during its biosynthesis JOURNAL Exp Cell Res 314 (16), 3036-3047 (2008) PUBMED 18621046 REMARK GeneRIF: Results show that CREG is a lysosomal protein that undergoes proteolytic maturation during biosynthesis, carries the mannose 6-phosphate recognition marker and depends on the interaction with M-6-P receptors for efficient delivery to lysosomes. REFERENCE 7 (residues 1 to 220) AUTHORS Peters LL, Zhang W, Lambert AJ, Brugnara C, Churchill GA and Platt OS. TITLE Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume JOURNAL Mamm Genome 16 (10), 749-763 (2005) PUBMED 16261417 REFERENCE 8 (residues 1 to 220) AUTHORS Kunita R, Otomo A and Ikeda JE. TITLE Identification and characterization of novel members of the CREG family, putative secreted glycoproteins expressed specifically in brain JOURNAL Genomics 80 (5), 456-460 (2002) PUBMED 12408961 REFERENCE 9 (residues 1 to 220) AUTHORS Veal E, Groisman R, Eisenstein M and Gill G. TITLE The secreted glycoprotein CREG enhances differentiation of NTERA-2 human embryonal carcinoma cells JOURNAL Oncogene 19 (17), 2120-2128 (2000) PUBMED 10815803 REFERENCE 10 (residues 1 to 220) AUTHORS Veal E, Eisenstein M, Tseng ZH and Gill G. TITLE A cellular repressor of E1A-stimulated genes that inhibits activation by E2F JOURNAL Mol Cell Biol 18 (9), 5032-5041 (1998) PUBMED 9710587 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC124587.5 and AW495378.1. On Sep 16, 2004 this sequence version replaced XP_358337.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027426.1, AK144101.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..220 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 73.11 cM" Protein 1..220 /product="protein CREG1 precursor" /note="protein CREG1" /calculated_mol_wt=21455 sig_peptide 1..31 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3015 Region 30..53 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O88668.1)" Region 50..216 /region_name="Pyrid_oxidase_2" /note="Pyridoxamine 5'-phosphate oxidase; pfam13883" /db_xref="CDD:404723" Site 160 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O88668.1)" Site 216 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O88668.1)" CDS 1..220 /gene="Creg1" /gene_synonym="Creg" /coded_by="NM_011804.3:28..690" /db_xref="CCDS:CCDS35759.1" /db_xref="GeneID:433375" /db_xref="MGI:MGI:1344382" ORIGIN 1 maarapelar sllaallapa lvallvspas grggrdhgdw dvdrrlpplp predgprvar 61 fvthvsdwgs latistikev rgwpfadiis isdgppgegt gepymylspl qqavsdlqen 121 peatltmsla qtvycrnhgf dpqsplcvhi mmsgtvtkvn kteedyards lfvrhpemkh 181 wpsshnwffa klkisriwvl dyfggpkvvt peeyfnvtlq // LOCUS NP_001351352 726 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 4 [Mus musculus]. ACCESSION NP_001351352 XP_006509132 VERSION NP_001351352.1 DBSOURCE REFSEQ: accession NM_001364423.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 726) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 726) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 726) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 726) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 726) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 726) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 726) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 726) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 726) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 726) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AC127374.4. On Jun 16, 2018 this sequence version replaced XP_006509132.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.82550.1, SRR1660811.90461.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..726 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..726 /product="pro-neuregulin-1, membrane-bound isoform isoform 4" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=79553 Region 245..275 /region_name="EGF" /note="EGF-like domain; pfam00008" /db_xref="CDD:394967" Region 353..708 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" CDS 1..726 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364423.1:641..2821" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfymtsrr krqetekple 301 rkldhslvke tkhlgiefme aeelyqkrvl titgiciall vvgimcvvay cktkkqrqkl 361 hdrlrqslrs ernnmvnian gphhpnpppe nvqlvnqyvs knvissehiv erevetsfst 421 shytstahhs ttvtqtpshs wsnghtesii seshsvimms svensrhssp aggprgrlhg 481 lggprecnsf lrharetpds yrdsphsery vsamttparm spvdfhtpss pksppsemsp 541 pvssmtvsmp svavspfvee erplllvtpp rlrekkydhh pqqlnsfhhn pahqstslpp 601 splrivedee yettqeyepi qepikkvtns rrakrtkpng hianrlemds npssvssnse 661 setedervge dtpflgiqnp laaslevapa frlaesrtnp agrfstqeel qarlssvian 721 qdpiav // LOCUS NP_001278104 702 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform k [Mus musculus]. ACCESSION NP_001278104 XP_006498957 VERSION NP_001278104.1 DBSOURCE REFSEQ: accession NM_001291175.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 702) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 702) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 702) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 702) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 702) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 702) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 702) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 702) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 702) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 702) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887584.1 and BP757417.1. On Mar 27, 2014 this sequence version replaced XP_006498957.1. Transcript Variant: This variant (12, also known as IB-IIS-Xa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (k) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 11 and 12 encode isoform k. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887584.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..702 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..702 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform k" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=76458 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..458 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(382,446) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..702 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291175.1:318..2426" /note="isoform k is encoded by transcript variant 12" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttdgq qiwemeatvd kdksqpnmlf 421 veipeyrnkh irvpvkvnfy vingkrkrsq pqhftyhpvp aiktepsdey epslicspah 481 gglgsqpyyp qhpmlaesps clvatmapcq qfrsglsspd aryqqqspaa alyqrsksls 541 pgllgyqqps llaaplglad ahrsvlvhag sqgqgqgstl phtssasqqa spvihysptn 601 qqlrggghqe fqhimycenf gpssarpgpp pinqgqrlsp gayptviqqq tapsqraakn 661 gpsdqkealp tgvtvkqeqn ldqtylddel idthlswiqn il // LOCUS NP_001349221 512 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 17 [Mus musculus]. ACCESSION NP_001349221 VERSION NP_001349221.1 DBSOURCE REFSEQ: accession NM_001362292.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 512) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 512) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 512) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 512) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 512) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 512) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 512) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 512) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 512) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 512) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.38660.1, SRR17784646.1120943.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..512 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..512 /product="CUGBP Elav-like family member 4 isoform 17" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=54499 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 405..501 /region_name="RRM3_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12639" /db_xref="CDD:241083" CDS 1..512 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362292.1:531..2069" /note="isoform 17 is encoded by transcript variant 23" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn lliyhlpqef 421 gdaelmqmfl pfgnvisskv fvdratnqsk cfaapggpve tqalvprvsp gfvsfdnpas 481 aqtaiqamng fqigmkrlkv qlkrpkdanr py // LOCUS NP_001346488 81 aa linear ROD 09-OCT-2023 DEFINITION costars family protein ABRACL [Mus musculus]. ACCESSION NP_001346488 VERSION NP_001346488.1 DBSOURCE REFSEQ: accession NM_001359559.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 81) AUTHORS Troumpoukis D, Vasileiou AR, Siskos N, Stylianopoulou E, Ypsilantis P, Skavdis G and Grigoriou ME. TITLE Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon JOURNAL Biomolecules 13 (9), 1337 (2023) PUBMED 37759737 REMARK GeneRIF: Characterization of the Abracl-Expressing Cell Populations in the Embryonic Mammalian Telencephalon. Publication Status: Online-Only REFERENCE 2 (residues 1 to 81) AUTHORS Pensold D, Symmank J, Hahn A, Lingner T, Salinas-Riester G, Downie BR, Ludewig F, Rotzsch A, Haag N, Andreas N, Schubert K, Hubner CA, Pieler T and Zimmer G. TITLE The DNA Methyltransferase 1 (DNMT1) Controls the Shape and Dynamics of Migrating POA-Derived Interneurons Fated for the Murine Cerebral Cortex JOURNAL Cereb Cortex 27 (12), 5696-5714 (2017) PUBMED 29117290 REFERENCE 3 (residues 1 to 81) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 4 (residues 1 to 81) AUTHORS Nelson PS, Pritchard C, Abbott D and Clegg N. TITLE The human (PEDB) and mouse (mPEDB) Prostate Expression Databases JOURNAL Nucleic Acids Res 30 (1), 218-220 (2002) PUBMED 11752298 REFERENCE 5 (residues 1 to 81) AUTHORS Kagami Y and Furuichi T. TITLE Investigation of differentially expressed genes during the development of mouse cerebellum JOURNAL Brain Res Gene Expr Patterns 1 (1), 39-59 (2001) PUBMED 15018818 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153896.10, AK013984.1 and AW492391.1. ##Evidence-Data-START## Transcript exon combination :: AK013984.1, BG804701.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..81 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 7.39 cM" Protein 1..81 /product="costars family protein ABRACL" /note="ABRA C-terminal-like protein" /calculated_mol_wt=8927 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:Q9P1F3; propagated from UniProtKB/Swiss-Prot (Q4KML4.1)" Region 2..79 /region_name="Costars" /note="pfam14705" /db_xref="CDD:434145" CDS 1..81 /gene="Abracl" /gene_synonym="1700028I04Rik; 3110003A17Rik" /coded_by="NM_001359559.1:189..434" /db_xref="CCDS:CCDS48506.1" /db_xref="GeneID:73112" /db_xref="MGI:MGI:1920362" ORIGIN 1 mnvehevnll veeihrlgsr nadgklsvkf gvlfqddrca nlfealvgtl kaakrrkivt 61 yagelllqgv hddvdivllq d // LOCUS NP_034363 2477 aa linear ROD 09-OCT-2023 DEFINITION fibronectin isoform a precursor [Mus musculus]. ACCESSION NP_034363 XP_129845 VERSION NP_034363.1 DBSOURCE REFSEQ: accession NM_010233.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 2477) AUTHORS Huo X, Ma S, Wang C, Song L, Yao B, Zhu S, Li P, Wang L, Wu Z and Wang K. TITLE Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma JOURNAL Clin Transl Med 13 (10), e1429 (2023) PUBMED 37784253 REMARK GeneRIF: Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma. REFERENCE 2 (residues 1 to 2477) AUTHORS Whisler J, Shahreza S, Schlegelmilch K, Ege N, Javanmardi Y, Malandrino A, Agrawal A, Fantin A, Serwinski B, Azizgolshani H, Park C, Shone V, Demuren OO, Del Rosario A, Butty VL, Holroyd N, Domart MC, Hooper S, Szita N, Boyer LA, Walker-Samuel S, Djordjevic B, Sheridan GK, Collinson L, Calvo F, Ruhrberg C, Sahai E, Kamm R and Moeendarbary E. TITLE Emergent mechanical control of vascular morphogenesis JOURNAL Sci Adv 9 (32), eadg9781 (2023) PUBMED 37566656 REFERENCE 3 (residues 1 to 2477) AUTHORS Jena SK, Das S, Chakraborty S and Ain R. TITLE Molecular determinants of epithelial mesenchymal transition in mouse placenta and trophoblast stem cell JOURNAL Sci Rep 13 (1), 10978 (2023) PUBMED 37414855 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 2477) AUTHORS Hiver S, Shimizu-Mizuno N, Ikawa Y, Kajikawa E, Sai X, Nishimura H, Takaoka K, Nishimura O, Kuraku S, Tanaka S and Hamada H. TITLE Gse1, a component of the CoREST complex, is required for placenta development in the mouse JOURNAL Dev Biol 498, 97-105 (2023) PUBMED 37019373 REFERENCE 5 (residues 1 to 2477) AUTHORS Ozguldez HO, Govindasamy N, Fan R, Long H, Mildner K, Zeuschner D, Trappmann B, Ranga A and Bedzhov I. TITLE Polarity inversion reorganizes the stem cell compartment of the trophoblast lineage JOURNAL Cell Rep 42 (4), 112313 (2023) PUBMED 36989113 REFERENCE 6 (residues 1 to 2477) AUTHORS Saga Y, Yagi T, Ikawa Y, Sakakura T and Aizawa S. TITLE Mice develop normally without tenascin JOURNAL Genes Dev 6 (10), 1821-1831 (1992) PUBMED 1383086 REFERENCE 7 (residues 1 to 2477) AUTHORS Khandjian EW, Salomon C, Leonard N, Tremblay S and Turler H. TITLE Fibronectin gene expression in proliferating, quiescent, and SV40-infected mouse kidney cells JOURNAL Exp Cell Res 202 (2), 464-470 (1992) PUBMED 1327855 REFERENCE 8 (residues 1 to 2477) AUTHORS Vidal SM, Epstein DJ, Malo D, Weith A, Vekemans M and Gros P. TITLE Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1 JOURNAL Genomics 14 (1), 32-37 (1992) PUBMED 1358796 REFERENCE 9 (residues 1 to 2477) AUTHORS Malo D, Schurr E, Epstein DJ, Vekemans M, Skamene E and Gros P. TITLE The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin JOURNAL Genomics 10 (2), 356-364 (1991) PUBMED 1676979 REFERENCE 10 (residues 1 to 2477) AUTHORS Wartiovaara,J., Leivo,I. and Vaheri,A. TITLE Expression of the cell surface-associated glycoprotein, fibronectin, in the early mouse embryo JOURNAL Dev Biol 69 (1), 247-257 (1979) PUBMED 376373 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CJ098561.1, CN534124.1, CF166960.1, CK638401.1, CK637170.1, CN538894.1, CN694596.1, CF727068.1, CN460535.1, AK133868.1 and AC124821.5. On Aug 30, 2004 this sequence version replaced XP_129845.3. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK090135.1, AK090130.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164142 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2477 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 36.05 cM" Protein 1..2477 /product="fibronectin isoform a precursor" /calculated_mol_wt=269760 sig_peptide 1..27 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2797 Region 53..90 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" Region 98..141 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 142..185 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 187..231 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 232..271 /region_name="fn1" /note="Fibronectin type I domain; pfam00039" /db_xref="CDD:425437" Region 308..347 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 353..401 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(364,366,371,385,392,398,400) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 413..461 /region_name="FN2" /note="Fibronectin type 2 domain; smart00059" /db_xref="CDD:128373" Site order(424,426,431,445,452,458,460) /site_type="active" /note="putative gelatin-binding site [active]" /db_xref="CDD:238019" Region 470..513 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 518..560 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 561..604 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 619..688 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 726..797 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(797..798,800..801) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(810,871,886) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 811..882 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(887..888,890..891) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 907..987 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(984..985,987..988) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 997..1075 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1073..1074,1076..1077) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1091..1158 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1174..1257 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1254..1255,1257..1258) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Site order(1264,1329,1344) /site_type="active" /note="Interdomain contacts [active]" /db_xref="CDD:238020" Region 1267..1349 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1345..1346,1348..1349) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1358..1439 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1449..1529 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 1541..1620 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1616..1617,1619..1620) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1633..1713 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1710..1711,1713..1714) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1723..1803 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 1813..1893 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1890..1891,1893..1894) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1905..1984 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Site order(1981..1982,1984..1985) /site_type="active" /note="Cytokine receptor motif [active]" /db_xref="CDD:238020" Region 1994..2074 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Region 2210..2265 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:394996" Region 2296..2340 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2341..2382 /region_name="FN1" /note="Fibronectin type 1 domain; smart00058" /db_xref="CDD:214494" Region 2384..2423 /region_name="FN1" /note="Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces...; cd00061" /db_xref="CDD:238018" CDS 1..2477 /gene="Fn1" /gene_synonym="E330027I09; Fn; Fn-1" /coded_by="NM_010233.2:253..7686" /note="isoform a precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS15031.1" /db_xref="GeneID:14268" /db_xref="MGI:MGI:95566" ORIGIN 1 mlrgpgpgrl lllavlclgt svrcteagks krqaqqivqp qspvavsqsk pgcfdngkhy 61 qinqqwerty lgnalvctcy ggsrgfnces kpepeetcfd kytgntykvg dtyerpkdsm 121 iwdctcigag rgrisctian rcheggqsyk igdkwrrphe tggymleclc lgngkgewtc 181 kpiaekcfdh aagtsyvvge twekpyqgwm mvdctclgeg ngritctsrn rcndqdtrts 241 yrigdtwskk dnrgnllqcv ctgngrgewk cerhalqsas agsgsftdvr taiyqpqthp 301 qpapyghcvt dsgvvysvgm qwlksqgnkq mlctclgngv scqetavtqt yggnsngepc 361 vlpftyngrt fyscttegrq dghlwcstts nyeqdqkysf ctdhavlvqt rggnsngalc 421 hfpflynnrn ytdctsegrr dnmkwcgttq nydadqkfgf cpmaaheeic ttnegvmyri 481 gdqwdkqhdl ghmmrctcvg ngrgewacip ysqlrdqciv dditynvndt fhkrheeghm 541 lnctcfgqgr grwkcdpidq cqdsetrtfy qigdswekfv hgvryqcycy grgigewhcq 601 plqtypgttg pvqviitetp sqpnshpiqw napepshitk yilrwrpkts tgrwkeatip 661 ghlnsytikg ltpgviyegq lisiqqyghr evtrfdftts astpvtsntv tgetapyspv 721 vatsesvtei tassfvvswv sasdtvsgfr veyelseegd epqyldlpst atsvnipdll 781 pgrkyivnvy qiseegkqsl ilstsqttap dappdptvdq vddtsivvrw srpqapitgy 841 rivyspsveg sstelnlpet ansvtlsdlq pgvqynitiy aveenqestp vfiqqettgt 901 prsdnvpppt dlqfveltdv kvtimwtppd svvsgyrvev lpvslpgehg qrlpvnrntf 961 aeitglspgv tylfkvfavh qgresnplta qqttkldapt nlqfvnetdr tvlvtwtppr 1021 ariagyrlta gltrggqpkq ynvgplasky plrnlqpgse ytvtlvavkg nqqspkatgv 1081 fttlqplrsi ppyntevtet tivitwtpap rigfklgvrp sqggeaprev tsdsgsivvs 1141 gltpgveyty tiqvlrdgqe rdapivnrvv tplspptnlh leanpdtgvl tvswersttp 1201 ditgyrittt ptngqqgtsl eevvhadqss ctfenlnpgl eynvsvytvk ddkesapisd 1261 tvvpevpqlt dlsfvditds siglrwtpln sstiigyrit vvaagegipi fedfvdssvg 1321 yytvtglepg idydisvitl inggesaptt ltqqtavppp tdlrftnigp dtmrvtwapp 1381 psieltnllv ryspvkneed vaelsispsd navvltnllp gteylvsvss vyeqhesipl 1441 rgrqktglds ptgfdssdit ansftvhwva prapitgyii rhhaehsvgr prqdrvppsr 1501 nsitltnlnp gteyvvsiia vngreesppl igqqatvsdi prdleviast ptslliswep 1561 pavsvryyri tygetggnsp vqeftvpgsk statinnikp gadytitlya vtgrgdspas 1621 skpvsinykt eidkpsqmqv tdvqdnsisv rwlpstspvt gyrvtttpkn glgpsktkta 1681 spdqtemtie glqptveyvv svyaqnrnge sqplvqtavt nidrpkglaf tdvdvdsiki 1741 awespqgqvs ryrvtysspe dgirelfpap dgeddtaelq glrpgseytv svvalhddme 1801 sqpligiqst aipaptnlkf sqvtptsfta qwiapsvqlt gyrvrvnpke ktgpmkeinl 1861 spdsssvivs glmvatkyev svyalkdtlt srpaqgvitt lenvspprra rvtdatetti 1921 tiswrtktet itgfqvdaip angqtpvqrs ispdvrsyti tglqpgtdyk ihlytlndna 1981 rsspviidas taidapsnlr fltttpnsll vswqaprari tgyiikyekp gspprevvpr 2041 prpgvteati tglepgteyt iyvialknnq ksepligrkk tdelpqlvtl phpnlhgpei 2101 ldvpstvqkt pfitnpgydt engiqlpgtt hqqpsvgqqm ifeehgfrrt tpptaatpvr 2161 lrprpylpnv deevqighvp rgdvdyhlyp hvpglnpnas tgqealsqtt iswtpfqess 2221 eyiiscqpvg tdeeplqfqv pgtstsatlt gltrgvtyni ivealqnqrr hkvreevvtv 2281 gnavseglnq ptddscfdpy tvshyaigee werlsdagfk ltcqclgfgs ghfrcdsskw 2341 chdngvnyki gekwdrqgen gqrmsctclg ngkgefkcdp heatcyddgk tyhvgeqwqk 2401 eylgaicsct cfggqrgwrc dncrrpgaae pspdgttght ynqytqrynq rtntnvncpi 2461 ecfmpldvqa drddsre // LOCUS NP_001397153 534 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform b [Mus musculus]. ACCESSION NP_001397153 XP_036021813 VERSION NP_001397153.1 DBSOURCE REFSEQ: accession NM_001410224.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 534) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 534) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 534) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 534) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 534) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 534) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 534) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 534) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153632.2. On Aug 1, 2022 this sequence version replaced XP_036021813.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR3363658.906686.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..534 /product="nuclear respiratory factor 1 isoform b" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=57152 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..525 /region_name="TGS_YchF_OLA1" /note="TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins; cd04867" /db_xref="CDD:340516" CDS 1..534 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410224.1:1818..3422" /note="isoform b is encoded by transcript variant 14" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang pdgvhawtis kavtapqaag kihtdfgkgf 481 imaevmkded lkeessenaa kaagkykqqg rayvvedgdi iffkfnspqq lkkk // LOCUS NP_038492 805 aa linear ROD 09-OCT-2023 DEFINITION aryl hydrocarbon receptor isoform 1 [Mus musculus]. ACCESSION NP_038492 VERSION NP_038492.1 DBSOURCE REFSEQ: accession NM_013464.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 805) AUTHORS Major J, Crotta S, Finsterbusch K, Chakravarty P, Shah K, Frederico B, D'Antuono R, Green M, Meader L, Suarez-Bonnet A, Priestnall S, Stockinger B and Wack A. TITLE Endothelial AHR activity prevents lung barrier disruption in viral infection JOURNAL Nature 621 (7980), 813-820 (2023) PUBMED 37587341 REMARK GeneRIF: Endothelial AHR activity prevents lung barrier disruption in viral infection. REFERENCE 2 (residues 1 to 805) AUTHORS Sheu ML, Pan LY, Yang CN, Sheehan J, Pan LY, You WC, Wang CC and Pan HC. TITLE Thrombin-Induced Microglia Activation Modulated through Aryl Hydrocarbon Receptors JOURNAL Int J Mol Sci 24 (14), 11416 (2023) PUBMED 37511175 REMARK GeneRIF: Thrombin-Induced Microglia Activation Modulated through Aryl Hydrocarbon Receptors. Publication Status: Online-Only REFERENCE 3 (residues 1 to 805) AUTHORS Balestrieri N, Palzkill V, Pass C, Tan J, Salyers ZR, Moparthy C, Murillo A, Kim K, Thome T, Yang Q, O'Malley KA, Berceli SA, Yue F, Scali ST, Ferreira LF and Ryan TE. TITLE Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease JOURNAL Circ Res 133 (2), 158-176 (2023) PUBMED 37325935 REMARK GeneRIF: Activation of the Aryl Hydrocarbon Receptor in Muscle Exacerbates Ischemic Pathology in Chronic Kidney Disease. REFERENCE 4 (residues 1 to 805) AUTHORS Liu J, Zhang X, Zhang Y, Qian M, Yang M, Yang S and Wang L. TITLE Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis JOURNAL FASEB J 37 (7), e23035 (2023) PUBMED 37310396 REMARK GeneRIF: Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis. REFERENCE 5 (residues 1 to 805) AUTHORS Haque N, Ojo ES, Krager SL and Tischkau SA. TITLE Deficiency of Adipose Aryl Hydrocarbon Receptor Protects against Diet-Induced Metabolic Dysfunction through Sexually Dimorphic Mechanisms JOURNAL Cells 12 (13), 1748 (2023) PUBMED 37443781 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 805) AUTHORS Okey,A.B., Bondy,G.P., Mason,M.E., Kahl,G.F., Eisen,H.J., Guenthner,T.M. and Nebert,D.W. TITLE Regulatory gene product of the Ah locus. Characterization of the cytosolic inducer-receptor complex and evidence for its nuclear translocation JOURNAL J Biol Chem 254 (22), 11636-11648 (1979) PUBMED 500663 REFERENCE 7 (residues 1 to 805) AUTHORS Levitt,R.C., Fysh,J.M., Jensen,N.M. and Nebert,D.W. TITLE The Ah locus: biochemical basis for genetic differences in brain tumor formation in mice JOURNAL Genetics 92 (4), 1205-1210 (1979) PUBMED 520822 REFERENCE 8 (residues 1 to 805) AUTHORS Wood,A.W. and Taylor,B.A. TITLE Genetic regulation of coumarin hydroxylase activity in mice. Evidence for single locus control on chromosome JOURNAL J Biol Chem 254 (13), 5647-5651 (1979) PUBMED 447675 REFERENCE 9 (residues 1 to 805) AUTHORS Kouri,R.E., Rude,T.H., Joglekar,R., Dansette,P.M., Jerina,D.M., Atlas,S.A., Owens,I.S. and Nebert,D.W. TITLE 2,3,7,8-tetrachlorodibenzo-p-dioxin as cocarcinogen causing 3-methylcholanthrene-initiated subcutaneous tumors in mice genetically 'nonresponsive' at Ah locus JOURNAL Cancer Res 38 (9), 2777-2783 (1978) PUBMED 679184 REFERENCE 10 (residues 1 to 805) AUTHORS Thorgeirsson,S.S. and Nebert,D.W. TITLE The Ah locus and the metabolism of chemical carcinogens and other foreign compounds JOURNAL Adv Cancer Res 25, 149-193 (1977) PUBMED 405846 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK153678.1. Summary: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK153678.1, AK155380.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..805 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 15.78 cM" Protein 1..805 /product="aryl hydrocarbon receptor isoform 1" /note="ah receptor; dioxin receptor" /calculated_mol_wt=90207 Region 1..38 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 12..15 /region_name="Nuclear localization signal 1. /evidence=ECO:0000250|UniProtKB:P35869" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 27..87 /region_name="bHLH-PAS_AhR" /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor (AhR) and similar proteins; cd11436" /db_xref="CDD:381442" Site order(33..39,41,43,64..66) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:381442" Region 36..41 /region_name="Nuclear localization signal 2. /evidence=ECO:0000250|UniProtKB:P35869" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 37..65 /region_name="DNA-binding. /evidence=ECO:0000250|UniProtKB:P35869" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Site order(38,41..42,45..46,48..49,52..56,64..66,69..79,82, 85..86) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:381442" Region 49..81 /region_name="Required for maintaining the overall integrity of the AHR:ARNT heterodimer and its transcriptional activity. /evidence=ECO:0000250|UniProtKB:P35869" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 63..71 /region_name="Nuclear export signal. /evidence=ECO:0000250|UniProtKB:P35869" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 111..>177 /region_name="PAS" /note="PAS fold; pfam00989" /db_xref="CDD:395786" Region 116..124 /region_name="Required for maintaining the overall integrity of the AHR:ARNT heterodimer and its transcriptional activity. /evidence=ECO:0000250|UniProtKB:P30561" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 260..262 /region_name="Required for maintaining the overall integrity of the AHR:ARNT heterodimer and its transcriptional activity. /evidence=ECO:0000250|UniProtKB:P30561" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" Region 291..376 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(294,298,304,318..321,347,352) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(315,319,327,330..331,359,361) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 421..449 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q8R4S5.1)" CDS 1..805 /gene="Ahr" /gene_synonym="Ah; Ahh; Ahre; bHLHe76; In" /coded_by="NM_013464.4:367..2784" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS36434.1" /db_xref="GeneID:11622" /db_xref="MGI:MGI:105043" ORIGIN 1 mssganitya srkrrkpvqk tvkpipaegi ksnpskrhrd rlnteldrla sllpfpqdvi 61 nkldklsvlr lsvsylraks ffdvalkstp adrnggqdqc raqirdwqdl qegefllqal 121 ngfvlvvtad alvfyassti qdylgfqqsd vihqsvyeli htedraefqr qlhwalnpds 181 aqgvdeahgp pqaavyytpd qlppenasfm ercfrcrlrc lldnssgfla mnfqgrlkyl 241 hgqnkkgkdg allppqlalf aiatplqpps ileirtknfi frtkhkldft pigcdakgql 301 ilgytevelc trgsgyqfih aadilhcaes hirmiktges gmtvfrllak hsrwrwvqsn 361 arliyrngrp dyiiatqrpl tdeegrehlq krstslpfmf atgeavlyei sspfspimdp 421 lpirtksnts rkdwapqstp skdsfhpssl msaliqqdes iylcppsspa lldshflmgs 481 vskcgswqds faaagseaal kheqighaqd vnlalsggps elfpdnknnd lysimrnlgi 541 dfedirsmqn eeffrtdsta agevdfkdid itdeiltyvq dslnnstlln sacqqqpvtq 601 hlscmlqerl qleqqqqlqq pppqalepqq qlcqmvcpqq dlgpkhtqin gtfaswnptp 661 pvsfncpqqe lkhyqlfssl qgtaqefpyk pevdsvpytq nfapcnqpll pehsksvqld 721 fpgrdfepsl hpttsnldfv sclqvpenqs hginsqsamv spqayyagam smyqcqpgpq 781 rtpvdqtqys seipgsqafl skvqs // LOCUS NP_001394524 384 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 5 [Mus musculus]. ACCESSION NP_001394524 VERSION NP_001394524.1 DBSOURCE REFSEQ: accession NM_001407595.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 384) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 384) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 384) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 384) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 384) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 384) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 384) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 384) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 384) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 384) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR10662772.3481502.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..384 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..384 /product="mitogen-activated protein kinase 10 isoform 5" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=43966 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..384 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407595.1:543..1697" /note="isoform 5 is encoded by transcript variant 21" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsa qvqq // LOCUS NP_001278102 477 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform j [Mus musculus]. ACCESSION NP_001278102 VERSION NP_001278102.1 DBSOURCE REFSEQ: accession NM_001291173.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 477) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 477) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 477) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 477) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 477) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 477) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 477) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 477) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 477) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 477) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK044489.1, EU887591.1, EU887585.1 and BP757417.1. Transcript Variant: This variant (10, also known as IA-deltaII-deltaXa) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (j) is shorter at the N-terminus, compared to isoform a. Both variants 10 and 15 encode isoform j. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887591.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..477 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..477 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform j" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=52558 Region <1..124 /region_name="RHD-n" /note="N-terminal sub-domain of the Rel homology domain (RHD); cl08275" /db_xref="CDD:447596" Region 129..229 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(153,217) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..477 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291173.1:374..1807" /note="isoform j is encoded by transcript variant 10" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 menkplglqi figtaderil kphafyqvhr itgktvttts yekivgntkv leiplepknn 61 mratidcagi lklrnadiel rkgetdigrk ntrvrlvfrv hvpepsgriv slqaasnpie 121 csqrsahelp mverqdmdsc lvyggqqmil tgqnftaesk vvfmekttdg qqiwemeatv 181 dkdksqpnml fveipeyrnk hirvpvkvnf yvingkrkrs qpqhftyhpv paiktepsde 241 yepslicspa hgglgsqpyy pqhpmlaesp sclvatmapc qqfrsglssp daryqqqspa 301 aalyqrsksl spgllgyqqp sllaaplgla dahrsvlvha gsqgqgqgst lphtssasqq 361 aspvihyspt nqqlrggghq efqhimycen fgpssarpgp ppinqgqrls pgayptviqq 421 qtapsqraak ngpsdqkeal ptgvtvkqeq nldqtylddv neiirkefsg ppsrnqt // LOCUS NP_001396828 147 aa linear ROD 09-OCT-2023 DEFINITION allograft inflammatory factor 1 isoform a [Mus musculus]. ACCESSION NP_001396828 XP_006523566 VERSION NP_001396828.1 DBSOURCE REFSEQ: accession NM_001409899.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 147) AUTHORS Altounian M, Bellon A and Mann F. TITLE Neuronal miR-17-5p contributes to interhemispheric cortical connectivity defects induced by prenatal alcohol exposure JOURNAL Cell Rep 42 (9), 113020 (2023) PUBMED 37610874 REFERENCE 2 (residues 1 to 147) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 3 (residues 1 to 147) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 147) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 147) AUTHORS Waldhauser V, Baroti T, Frob F and Wegner M. TITLE PBAF Subunit Pbrm1 Selectively Influences the Transition from Progenitors to Pre-Myelinating Cells during Oligodendrocyte Development JOURNAL Cells 12 (12), 1556 (2023) PUBMED 37371026 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 147) AUTHORS Sasaki Y, Ohsawa K, Kanazawa H, Kohsaka S and Imai Y. TITLE Iba1 is an actin-cross-linking protein in macrophages/microglia JOURNAL Biochem Biophys Res Commun 286 (2), 292-297 (2001) PUBMED 11500035 REFERENCE 7 (residues 1 to 147) AUTHORS Ohsawa K, Imai Y, Kanazawa H, Sasaki Y and Kohsaka S. TITLE Involvement of Iba1 in membrane ruffling and phagocytosis of macrophages/microglia JOURNAL J Cell Sci 113 (Pt 17), 3073-3084 (2000) PUBMED 10934045 REFERENCE 8 (residues 1 to 147) AUTHORS Allcock RJ, Martin AM and Price P. TITLE The mouse as a model for the effects of MHC genes on human disease JOURNAL Immunol Today 21 (7), 328-332 (2000) PUBMED 10871872 REMARK Review article REFERENCE 9 (residues 1 to 147) AUTHORS Handel-Fernandez ME, Kurimoto I, Streilein JW and Vincek V. TITLE Genetic mapping and physical cloning of UVB susceptibility region in mice JOURNAL J Invest Dermatol 113 (2), 224-229 (1999) PUBMED 10469308 REFERENCE 10 (residues 1 to 147) AUTHORS Lund T, Shaikh S, Kendall E, Campbell RD, Hattori M, Makino S and Cooke A. TITLE RFLP analysis of the MHC class III region defines unique haplotypes for the non-obese diabetic, cataract Shionogi and the non-obese non-diabetic mouse strains JOURNAL Diabetologia 36 (8), 727-733 (1993) PUBMED 8104833 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR974444.18. On Jul 25, 2022 this sequence version replaced XP_006523566.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189685.277632.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..147 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 18.59 cM" Protein 1..147 /product="allograft inflammatory factor 1 isoform a" /note="testis specific; ionized calcium binding adapter molecule 1" /calculated_mol_wt=16779 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P81076; propagated from UniProtKB/Swiss-Prot (O70200.1)" Site 11 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P55008; propagated from UniProtKB/Swiss-Prot (O70200.1)" Region <48..113 /region_name="PTZ00184" /note="calmodulin; Provisional" /db_xref="CDD:185504" Region 128..147 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O70200.1)" CDS 1..147 /gene="Aif1" /gene_synonym="AIF-1; D17H6S50E; G1; Iba1" /coded_by="NM_001409899.1:386..829" /note="isoform a is encoded by transcript variant 4" /db_xref="GeneID:11629" /db_xref="MGI:MGI:1343098" ORIGIN 1 msqsrdlqgg kafgllkaqq eerleginkq flddpkysnd edlpskleaf kvkymefdln 61 gngdidimsl krmleklgvp kthlelkrli revssgseet fsysdflrmm lgkrsailrm 121 ilmyeeknke hkrptgppak kaiselp // LOCUS NP_035029 927 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform a [Mus musculus]. ACCESSION NP_035029 VERSION NP_035029.2 DBSOURCE REFSEQ: accession NM_010899.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 927) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 927) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 927) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 927) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 927) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 927) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 927) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 927) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 927) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 927) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887588.1, EU887581.1 and BP757417.1. On Nov 10, 2005 this sequence version replaced NP_035029.1. Transcript Variant: This variant (1, also known as IB-IIL-deltaXa) encodes the longest isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U36576.1, EU887588.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..927 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..927 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform a" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=99889 Region 400..574 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(423,426,428..429,431..433,481,522,524..525,539..540, 542,573) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 579..679 /region_name="IPT_NFAT" /note="IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction; cd01178" /db_xref="CDD:238583" Site order(603,667) /site_type="DNA binding" /note="DNA binding sites [nucleotide binding]" /db_xref="CDD:238583" CDS 1..927 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_010899.3:175..2958" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS17112.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 mdvpepqpdp dggdgpghep ggspqdeldf silfdydyln pieeepiahk aisspsglay 61 pddvldyglk pcnplaslsg eppgrfgepd sigfqnflsp vkpagasgps prieitpshe 121 lmqaggalrg rdaglspeqp alalagvaas prftlpvpgy egyreplcls passgssasf 181 isdtfspyts pcvspnnagp ddlcpqfqni pahysprtsp imsprtslae dsclgrhspv 241 prpasrsssp gakrrhscae alvaplpaas pqrsrspspq psphvalqdd sipagyppta 301 gsavlmdaln tlatdspcgi pskiwktspd ptpvstapsk aglarhiypt veflgpceqe 361 errnsapesi llvpptwpkq lvpaipicsi pvtaslpple wplsnqsgsy elrievqpkp 421 hhrahyeteg srgavkaptg ghpvvqlhgy menkplglqi figtaderil kphafyqvhr 481 itgktvttts yekivgntkv leiplepknn mratidcagi lklrnadiel rkgetdigrk 541 ntrvrlvfrv hvpepsgriv slqaasnpie csqrsahelp mverqdmdsc lvyggqqmil 601 tgqnftaesk vvfmekttdg qqiwemeatv dkdksqpnml fveipeyrnk hirvpvkvnf 661 yvingkrkrs qpqhftyhpv paiktepsde yepslicspa hgglgsqpyy pqhpmlaesp 721 sclvatmapc qqfrsglssp daryqqqspa aalyqrsksl spgllgyqqp sllaaplgla 781 dahrsvlvha gsqgqgqgst lphtssasqq aspvihyspt nqqlrggghq efqhimycen 841 fgpssarpgp ppinqgqrls pgayptviqq qtapsqraak ngpsdqkeal ptgvtvkqeq 901 nldqtylddv neiirkefsg ppsrnqt // LOCUS NP_001351567 361 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 5 [Mus musculus]. ACCESSION NP_001351567 XP_017170648 VERSION NP_001351567.1 DBSOURCE REFSEQ: accession NM_001364638.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 361) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 361) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 361) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 361) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 361) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 361) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 361) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 361) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 361) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 361) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2, AC108802.15 and CT009504.11. On Jun 26, 2018 this sequence version replaced XP_017170648.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.165374.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..361 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..361 /product="RNA-binding protein Nova-1 isoform 5" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=36119 Region 26..95 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(37..39,41..45,48..49,59..61,63..65,73) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 276..346 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(284..285,287..289,291..295,298..299,309..315,317, 322,324) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..361 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364638.1:485..1570" /note="isoform 5 is encoded by transcript variant 6" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mpqnvaktep vsilqpqttv npdrikqvki ivpnstagli igkggatvka imeqsgawvq 61 lsqkpdginl qervvtvsge peqnrkavel iiqkiqedpq sgsclnisya nvtgpvansn 121 ptgspyanta evlptaaaaa gllghanlag vaafpavlsg ftgndlvait salntlasyg 181 ynlntlglgl sqaaatgala aaaasanpaa aaanllatya seasasgsta ggtagtfalg 241 slaaataatn gyfgaaspla asailgteks tdgskdvvei avpenlvgai lgkggktlve 301 yqeltgariq iskkgefvpg trnrkvtitg tpaatqaaqy litqrityeq gvraanpqkv 361 g // LOCUS NP_001157698 503 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform a [Mus musculus]. ACCESSION NP_001157698 VERSION NP_001157698.1 DBSOURCE REFSEQ: accession NM_001164226.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 503) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 503) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 503) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 503) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 503) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 503) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 503) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 503) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 503) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Transcript Variant: This variant (1) encodes isoform a. Variants 1, 6, 9, and 10 all encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219382.230285.1, SRR13422598.1912866.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..503 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..503 /product="nuclear respiratory factor 1 isoform a" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=53440 Region 1..78 /region_name="Dimerization. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 36..57 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 39 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 44 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 46 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 47 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Site 52 /site_type="phosphorylation" /note="Phosphoserine, by CK2. /evidence=ECO:0000250|UniProtKB:Q16656; propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 87..283 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 88..116 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 301..476 /region_name="Required for transcriptional activation. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9WU00.2)" Region 450..502 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..503 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001164226.2:274..1785" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS19968.1" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaagpvgma aaaavatgkk rkrphvfesn psirkrqqtr llrklratld 121 eyttrvgqqa ivlcispskp npvfkvfgaa plenvvrkyk smiledlesa laehapapqe 181 vnselpplti dgipvsvdkm tqaqlrafip emlkystgrg kpgwgkesck piwwpedipw 241 anvrsdvrte eqkqrvswtq alrtivkncy kqhgredlly afedqqtqtq attthsiahl 301 vpsqtvvqtf snpdgtvsli qvgtgatvat ladaselptt vtvaqvnysa vadgeveqnw 361 atlqggemti qttqaseatq avaslaeaav aasqemqqga tvtmalnsea aahavatlae 421 atlqgggqiv lsgetaaavg altgvqdang lvqipvsmyq tvvtslaqgn gpvqvamapv 481 ttrisdsavt mdgqavevvt leq // LOCUS NP_077169 251 aa linear ROD 09-OCT-2023 DEFINITION derlin-1 [Mus musculus]. ACCESSION NP_077169 VERSION NP_077169.1 DBSOURCE REFSEQ: accession NM_024207.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 251) AUTHORS You H, Wen X, Wang X, Zhu C, Chen H, Bu L, Zhang J and Qu S. TITLE Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1 JOURNAL Free Radic Biol Med 207, 260-271 (2023) PUBMED 37499886 REMARK GeneRIF: Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1. REFERENCE 2 (residues 1 to 251) AUTHORS Sugiyama T, Murao N, Kadowaki H and Nishitoh H. TITLE Chemical chaperones ameliorate neurodegenerative disorders in Derlin-1-deficient mice via improvement of cholesterol biosynthesis JOURNAL Sci Rep 12 (1), 21840 (2022) PUBMED 36528738 REMARK GeneRIF: Chemical chaperones ameliorate neurodegenerative disorders in Derlin-1-deficient mice via improvement of cholesterol biosynthesis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 251) AUTHORS Sugiyama T, Murao N, Kadowaki H, Takao K, Miyakawa T, Matsushita Y, Katagiri T, Futatsugi A, Shinmyo Y, Kawasaki H, Sakai J, Shiomi K, Nakazato M, Takeda K, Mikoshiba K, Ploegh HL, Ichijo H and Nishitoh H. TITLE ERAD components Derlin-1 and Derlin-2 are essential for postnatal brain development and motor function JOURNAL iScience 24 (7), 102758 (2021) PUBMED 34355142 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 251) AUTHORS Eura Y, Miyata T and Kokame K. TITLE Derlin-3 Is Required for Changes in ERAD Complex Formation under ER Stress JOURNAL Int J Mol Sci 21 (17), 6146 (2020) PUBMED 32858914 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 251) AUTHORS Zhang X, Ge Y, Bukhari AA, Zhu Q, Shen Y, Li M, Sun H, Su D and Liang X. TITLE Estrogen negatively regulates the renal epithelial sodium channel (ENaC) by promoting Derlin-1 expression and AMPK activation JOURNAL Exp Mol Med 51 (5), 1-12 (2019) PUBMED 31113930 REMARK GeneRIF: Estrogen treatment decreased alpha-ENaC expression but increased derlin-1 expression in mouse renal collecting duct (mpkCCDc14) cells. Publication Status: Online-Only REFERENCE 6 (residues 1 to 251) AUTHORS Oda Y, Okada T, Yoshida H, Kaufman RJ, Nagata K and Mori K. TITLE Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation JOURNAL J Cell Biol 172 (3), 383-393 (2006) PUBMED 16449189 REFERENCE 7 (residues 1 to 251) AUTHORS Lilley BN and Ploegh HL. TITLE Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane JOURNAL Proc Natl Acad Sci U S A 102 (40), 14296-14301 (2005) PUBMED 16186509 REFERENCE 8 (residues 1 to 251) AUTHORS Katiyar S, Joshi S and Lennarz WJ. TITLE The retrotranslocation protein Derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum JOURNAL Mol Biol Cell 16 (10), 4584-4594 (2005) PUBMED 16055502 REFERENCE 9 (residues 1 to 251) AUTHORS Ye Y, Shibata Y, Yun C, Ron D and Rapoport TA. TITLE A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol JOURNAL Nature 429 (6994), 841-847 (2004) PUBMED 15215856 REFERENCE 10 (residues 1 to 251) AUTHORS Lilley BN and Ploegh HL. TITLE A membrane protein required for dislocation of misfolded proteins from the ER JOURNAL Nature 429 (6994), 834-840 (2004) PUBMED 15215855 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC154874.9. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK043420.1, BC085490.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164140, SAMN02415138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..251 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 24.06 cM" Protein 1..251 /product="derlin-1" /note="der1-like protein 1; degradation in endoplasmic reticulum protein 1" /calculated_mol_wt=28704 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:Q9BUN8; propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Region 11..204 /region_name="DER1" /note="Der1-like family; pfam04511" /db_xref="CDD:427988" Site 16..31 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 70..89 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 95..115 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 123..137 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 155..166 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 171..189 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 201 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 202 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9BUN8; propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Site 226 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9BUN8; propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Region 229..251 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" Region 241..248 /region_name="SHP-box. /evidence=ECO:0000250|UniProtKB:Q9BUN8" /note="propagated from UniProtKB/Swiss-Prot (Q99J56.1)" CDS 1..251 /gene="Derl1" /gene_synonym="1110021N07Rik; Derlin-1" /coded_by="NM_024207.4:124..879" /db_xref="CCDS:CCDS27484.1" /db_xref="GeneID:67819" /db_xref="MGI:MGI:1915069" ORIGIN 1 msdigdwfrs ipaitrywfa atvavpligk lgiispayff lwpeaflyrf qiwrpftatf 61 yfpvgpgtgf lylvnlyfly qystrleaga fdgrpadylf mllfnwiciv itglamdmql 121 lmiplimsvl yvwaqlnrdl ivsfwfgtrf kacylpwvil gfnyiiggsv inelignlvg 181 hlyfflmfry pmdlggrnfl stpqflyrwl psrrggvsgf gvppasmrra adqnggggrh 241 nwgqgfrlgd q // LOCUS NP_001348431 146 aa linear ROD 09-OCT-2023 DEFINITION allograft inflammatory factor 1 isoform b [Mus musculus]. ACCESSION NP_001348431 VERSION NP_001348431.1 DBSOURCE REFSEQ: accession NM_001361502.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 146) AUTHORS Altounian M, Bellon A and Mann F. TITLE Neuronal miR-17-5p contributes to interhemispheric cortical connectivity defects induced by prenatal alcohol exposure JOURNAL Cell Rep 42 (9), 113020 (2023) PUBMED 37610874 REFERENCE 2 (residues 1 to 146) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 3 (residues 1 to 146) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 146) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 146) AUTHORS Waldhauser V, Baroti T, Frob F and Wegner M. TITLE PBAF Subunit Pbrm1 Selectively Influences the Transition from Progenitors to Pre-Myelinating Cells during Oligodendrocyte Development JOURNAL Cells 12 (12), 1556 (2023) PUBMED 37371026 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 146) AUTHORS Sasaki Y, Ohsawa K, Kanazawa H, Kohsaka S and Imai Y. TITLE Iba1 is an actin-cross-linking protein in macrophages/microglia JOURNAL Biochem Biophys Res Commun 286 (2), 292-297 (2001) PUBMED 11500035 REFERENCE 7 (residues 1 to 146) AUTHORS Ohsawa K, Imai Y, Kanazawa H, Sasaki Y and Kohsaka S. TITLE Involvement of Iba1 in membrane ruffling and phagocytosis of macrophages/microglia JOURNAL J Cell Sci 113 (Pt 17), 3073-3084 (2000) PUBMED 10934045 REFERENCE 8 (residues 1 to 146) AUTHORS Allcock RJ, Martin AM and Price P. TITLE The mouse as a model for the effects of MHC genes on human disease JOURNAL Immunol Today 21 (7), 328-332 (2000) PUBMED 10871872 REMARK Review article REFERENCE 9 (residues 1 to 146) AUTHORS Handel-Fernandez ME, Kurimoto I, Streilein JW and Vincek V. TITLE Genetic mapping and physical cloning of UVB susceptibility region in mice JOURNAL J Invest Dermatol 113 (2), 224-229 (1999) PUBMED 10469308 REFERENCE 10 (residues 1 to 146) AUTHORS Lund T, Shaikh S, Kendall E, Campbell RD, Hattori M, Makino S and Cooke A. TITLE RFLP analysis of the MHC class III region defines unique haplotypes for the non-obese diabetic, cataract Shionogi and the non-obese non-diabetic mouse strains JOURNAL Diabetologia 36 (8), 727-733 (1993) PUBMED 8104833 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR974444.18. Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BU962218.1, CN834368.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..146 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 18.59 cM" Protein 1..146 /product="allograft inflammatory factor 1 isoform b" /note="testis specific; ionized calcium binding adapter molecule 1" /calculated_mol_wt=16747 Region <47..112 /region_name="PTZ00184" /note="calmodulin; Provisional" /db_xref="CDD:185504" CDS 1..146 /gene="Aif1" /gene_synonym="AIF-1; D17H6S50E; G1; Iba1" /coded_by="NM_001361502.2:143..583" /note="isoform b is encoded by transcript variant 3" /db_xref="GeneID:11629" /db_xref="MGI:MGI:1343098" ORIGIN 1 mkpeeisrgk afgllkaqqe erleginkqf lddpkysnde dlpskleafk vkymefdlng 61 ngdidimslk rmleklgvpk thlelkrlir evssgseetf sysdflrmml gkrsailrmi 121 lmyeeknkeh krptgppakk aiselp // LOCUS NP_001394513 422 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 2 [Mus musculus]. ACCESSION NP_001394513 VERSION NP_001394513.1 DBSOURCE REFSEQ: accession NM_001407584.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 422) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 422) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 422) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 422) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 422) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 422) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 422) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 422) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 422) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 422) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR10662772.1027127.1 [ECO:0000332] RNAseq introns :: partial sample support SAMN01164131, SAMN01164138 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..422 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..422 /product="mitogen-activated protein kinase 10 isoform 2" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=48356 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..422 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407584.1:521..1789" /note="isoform 2 is encoded by transcript variant 16" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsaqv 421 qq // LOCUS NP_001349220 523 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 16 [Mus musculus]. ACCESSION NP_001349220 VERSION NP_001349220.1 DBSOURCE REFSEQ: accession NM_001362291.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 523) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 523) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 523) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 523) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 523) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 523) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 523) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 523) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 523) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 523) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.199204.1, SRR1660825.193961.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..523 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..523 /product="CUGBP Elav-like family member 4 isoform 16" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=55680 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 404..>432 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..523 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362291.1:531..2102" /note="isoform 16 is encoded by transcript variant 22" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqamqqq aalmasvaqg gylnpmaafa aaqmqqmaal nmnglaaapm 301 tptsggstpp gitapavpsi pspigvngft glppqangqp aaeavfangi hpypaqspta 361 adplqqayag vqqyagpayp aaygqisqaf pqpppmipqq qregpegcnl liyhlpqefg 421 daelmqmflp fgrhpvpsrc qapscqggqc aisssarrlr elrqpgqrtd rhpgherlpd 481 rheeaqgaae aaqrrqspvl saggsvprgr pglaqgrmln glh // LOCUS NP_112455 1032 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 9 precursor [Mus musculus]. ACCESSION NP_112455 VERSION NP_112455.2 DBSOURCE REFSEQ: accession NM_031178.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1032) AUTHORS Cakan E, Ah Kioon MD, Garcia-Carmona Y, Glauzy S, Oliver D, Yamakawa N, Vega Loza A, Du Y, Schickel JN, Boeckers JM, Yang C, Baldo A, Ivashkiv LB, Young RM, Staudt LM, Moody KL, Nundel K, Marshak-Rothstein A, van der Made CI, Hoischen A, Hayward A, Rossato M, Radstake TRDJ, Cunningham-Rundles C, Ryu C, Herzog EL, Barrat FJ and Meffre E. TITLE TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell tolerance JOURNAL J Exp Med 220 (12) (2023) PUBMED 37773045 REMARK GeneRIF: TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell tolerance. REFERENCE 2 (residues 1 to 1032) AUTHORS Wang YN, Gan T, Qu S, Xu LL, Hu Y, Liu LJ, Shi SF, Lv JC, Tsoi LC, Patrick MT, He K, Berthier CC, Xu HJ, Zhou XJ and Zhang H. TITLE MTMR3 risk alleles enhance Toll Like Receptor 9-induced IgA immunity in IgA nephropathy JOURNAL Kidney Int 104 (3), 562-576 (2023) PUBMED 37414396 REMARK GeneRIF: MTMR3 risk alleles enhance Toll Like Receptor 9-induced IgA immunity in IgA nephropathy. REFERENCE 3 (residues 1 to 1032) AUTHORS Gavin AL, Blane TR, Thinnes TC, Gerlt E, Marshak-Rothstein A, Huang D and Nemazee D. TITLE Disease in the Pld4thss/thss Model of Murine Lupus Requires TLR9 JOURNAL Immunohorizons 7 (8), 577-586 (2023) PUBMED 37555846 REMARK GeneRIF: Disease in the Pld4thss/thss Model of Murine Lupus Requires TLR9. REFERENCE 4 (residues 1 to 1032) AUTHORS Velasco WV, Khosravi N, Castro-Pando S, Torres-Garza N, Grimaldo MT, Krishna A, Clowers MJ, Umer M, Tariq Amir S, Del Bosque D, Daliri S, De La Garza MM, Ramos-Castaneda M, Evans SE and Moghaddam SJ. TITLE Toll-like receptors 2, 4, and 9 modulate promoting effect of COPD-like airway inflammation on K-ras-driven lung cancer through activation of the MyD88/NF-kB pathway in the airway epithelium JOURNAL Front Immunol 14, 1118721 (2023) PUBMED 37283745 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1032) AUTHORS Zhang S and Cao X. TITLE TLR9 triggers MyD88-independent anti-inflammatory signaling in lupus JOURNAL Trends Immunol 44 (3), 153-155 (2023) PUBMED 36740514 REMARK GeneRIF: TLR9 triggers MyD88-independent anti-inflammatory signaling in lupus. REFERENCE 6 (residues 1 to 1032) AUTHORS Suzuki N, Suzuki S, Duncan GS, Millar DG, Wada T, Mirtsos C, Takada H, Wakeham A, Itie A, Li S, Penninger JM, Wesche H, Ohashi PS, Mak TW and Yeh WC. TITLE Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4 JOURNAL Nature 416 (6882), 750-756 (2002) PUBMED 11923871 REMARK GeneRIF: Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4. REFERENCE 7 (residues 1 to 1032) AUTHORS Chuang TH, Lee J, Kline L, Mathison JC and Ulevitch RJ. TITLE Toll-like receptor 9 mediates CpG-DNA signaling JOURNAL J Leukoc Biol 71 (3), 538-544 (2002) PUBMED 11867692 REMARK GeneRIF: TLR9 acts at the cell surface and engages an intracellular signaling pathway that includes MyD88, IRAK, and TRAF6 REFERENCE 8 (residues 1 to 1032) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 REFERENCE 9 (residues 1 to 1032) AUTHORS Bauer S, Kirschning CJ, Hacker H, Redecke V, Hausmann S, Akira S, Wagner H and Lipford GB. TITLE Human TLR9 confers responsiveness to bacterial DNA via species-specific CpG motif recognition JOURNAL Proc Natl Acad Sci U S A 98 (16), 9237-9242 (2001) PUBMED 11470918 REFERENCE 10 (residues 1 to 1032) AUTHORS Hemmi H, Takeuchi O, Kawai T, Kaisho T, Sato S, Sanjo H, Matsumoto M, Hoshino K, Wagner H, Takeda K and Akira S. TITLE A Toll-like receptor recognizes bacterial DNA JOURNAL Nature 408 (6813), 740-745 (2000) PUBMED 11130078 REMARK Erratum:[Nature 2001 Feb 1;409(6820):646] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC164430.3. On Sep 7, 2007 this sequence version replaced NP_112455.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB045181.1, AF314224.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1032 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="9" /map="9 57.46 cM" Protein 1..1032 /product="toll-like receptor 9 precursor" /calculated_mol_wt=113659 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2772 Region <24..>254 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 43..64 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 62..85 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 64 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 65..88 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 87..110 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 122..147 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 125..168 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 129 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 147 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 150..166 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 167..190 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 169..200 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 198..221 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 199..>651 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Site 200 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 201..221 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 210 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255, ECO:0000269|PubMed:25686612, ECO:0007744|PDB:3WPF; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 222..245 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 223..242 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 242 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 243..268 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 246..285 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 283..306 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 286..309 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 300 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 308..332 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 309 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 310..335 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 332 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255, ECO:0000269|PubMed:25686612, ECO:0007744|PDB:3WPF, ECO:0007744|PDB:3WPH; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 333..356 /region_name="LRR 11" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 336..365 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 340 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 363..386 /region_name="LRR 12" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 390..413 /region_name="LRR 13" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 393..422 /region_name="LRR_12" /note="Leucine-rich repeat; pfam18837" /db_xref="CDD:408607" Region 393..411 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 415..440 /region_name="LRR 14" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 430..462 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 471..495 /region_name="LRR 15" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 477..498 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 495 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 497..520 /region_name="LRR 16" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 499..523 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 514 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 521..544 /region_name="LRR 17" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 524..547 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 546..573 /region_name="LRR 18" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 548..577 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 568 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 575..599 /region_name="LRR 19" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 578..600 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 601..630 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 601..623 /region_name="LRR 20" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region <623..690 /region_name="LRR_8" /note="Leucine rich repeat; pfam13855" /db_xref="CDD:404697" Region 628..651 /region_name="LRR 21" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 631..679 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 653..676 /region_name="LRR 22" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 670 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 677..700 /region_name="LRR 23" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 680..703 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 695 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 700 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 702..724 /region_name="LRR 24" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 704..752 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 725..748 /region_name="LRR 25" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 732 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255, ECO:0000269|PubMed:25686612, ECO:0007744|PDB:3WPF, ECO:0007744|PDB:3WPG, ECO:0007744|PDB:3WPH, ECO:0007744|PDB:3WPI; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 750..773 /region_name="LRR 26" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Site 752 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 753..774 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 819..839 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9EQU3.3)" Region 870..>974 /region_name="TIR_2" /note="TIR domain; cl23749" /db_xref="CDD:451524" CDS 1..1032 /gene="Tlr9" /coded_by="NM_031178.2:107..3205" /db_xref="CCDS:CCDS40755.1" /db_xref="GeneID:81897" /db_xref="MGI:MGI:1932389" ORIGIN 1 mvlrrrtlhp lsllvqaavl aetlalgtlp aflpcelkph glvdcnwlfl ksvprfsaaa 61 scsnitrlsl isnrihhlhn sdfvhlsnlr qlnlkwncpp tglsplhfsc hmtieprtfl 121 amrtleelnl syngittvpr lpsslvnlsl shtnilvlda nslaglyslr vlfmdgncyy 181 knpctgavkv tpgallglsn lthlslkynn ltkvprqlpp sleyllvsyn livklgpedl 241 anltslrvld vggncrrcdh apnpciecgq kslhlhpetf hhlshleglv lkdsslhtln 301 sswfqglvnl svldlsenfl yesithtnaf qnltrlrkln lsfnyrkkvs farlhlassf 361 knlvslqeln mngiffrlln kytlrwladl pklhtlhlqm nfinqaqlsi fgtfralrfv 421 dlsdnrisgp stlseatpee addaeqeell sadphpapls tpasknfmdr cknfkftmdl 481 srnnlvtikp emfvnlsrlq clslshnsia qavngsqflp ltnlqvldls hnkldlyhwk 541 sfselpqlqa ldlsynsqpf smkgighnfs fvthlsmlqs lslahndiht rvsshlnsns 601 vrfldfsgng mgrmwdeggl ylhffqglsg llkldlsqnn lhilrpqnld nlpkslklls 661 lrdnylsffn wtslsflpnl evldlagnql kaltngtlpn gtllqkldvs snsivsvvpa 721 ffalavelke vnlshnilkt vdrswfgpiv mnltvldvrs nplhcacgaa fvdlllevqt 781 kvpglangvk cgspgqlqgr sifaqdlrlc ldevlswdcf glsllavavg mvvpilhhlc 841 gwdvwycfhl clawlpllar srrsaqtlpy dafvvfdkaq savadwvyne lrvrleerrg 901 rralrlcled rdwlpgqtlf enlwasiygs rktlfvlaht drvsgllrts fllaqqrlle 961 drkdvvvlvi lrpdahrsry vrlrqrlcrq svlfwpqqpn gqggfwaqls taltrdnrhf 1021 ynqnfcrgpt ae // LOCUS NP_001259007 249 aa linear ROD 09-OCT-2023 DEFINITION triggering receptor expressed on myeloid cells 2 isoform 2 precursor [Mus musculus]. ACCESSION NP_001259007 VERSION NP_001259007.1 DBSOURCE REFSEQ: accession NM_001272078.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 249) AUTHORS Chen X, Zhao Y, Huang Y, Zhu K, Zeng F, Zhao J, Zhang H, Zhu X, Kettenmann H and Xiang X. TITLE TREM2 promotes glioma progression and angiogenesis mediated by microglia/brain macrophages JOURNAL Glia 71 (11), 2679-2695 (2023) PUBMED 37641212 REMARK GeneRIF: TREM2 promotes glioma progression and angiogenesis mediated by microglia/brain macrophages. REFERENCE 2 (residues 1 to 249) AUTHORS Das M, Mao W, Voskobiynyk Y, Necula D, Lew I, Petersen C, Zahn A, Yu GQ, Yu X, Smith N, Sayed FA, Gan L, Paz JT and Mucke L. TITLE Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models JOURNAL Neurobiol Dis 186, 106263 (2023) PUBMED 37591465 REMARK GeneRIF: Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models. REFERENCE 3 (residues 1 to 249) AUTHORS Zhong L, Sheng X, Wang W, Li Y, Zhuo R, Wang K, Zhang L, Hu DD, Hong Y, Chen L, Rao H, Li T, Chen M, Lin Z, Zhang YW, Wang X, Yan XX, Chen X, Bu G and Chen XF. TITLE TREM2 receptor protects against complement-mediated synaptic loss by binding to complement C1q during neurodegeneration JOURNAL Immunity 56 (8), 1794-1808 (2023) PUBMED 37442133 REMARK GeneRIF: TREM2 receptor protects against complement-mediated synaptic loss by binding to complement C1q during neurodegeneration. REFERENCE 4 (residues 1 to 249) AUTHORS Yoo Y, Neumayer G, Shibuya Y, Mader MM and Wernig M. TITLE A cell therapy approach to restore microglial Trem2 function in a mouse model of Alzheimer's disease JOURNAL Cell Stem Cell 30 (8), 1043-1053 (2023) PUBMED 37541210 REMARK Erratum:[Cell Stem Cell. 2023 Oct 5;30(10):1392. PMID: 37802040] REFERENCE 5 (residues 1 to 249) AUTHORS Correale C, Genua M, Vetrano S, Mazzini E, Martinoli C, Spinelli A, Arena V, Peyrin-Biroulet L, Caprioli F, Passini N, Panina-Bordignon P, Repici A, Malesci A, Rutella S, Rescigno M and Danese S. TITLE Bacterial sensor triggering receptor expressed on myeloid cells-2 regulates the mucosal inflammatory response JOURNAL Gastroenterology 144 (2), 346-356 (2013) PUBMED 23108068 REFERENCE 6 (residues 1 to 249) AUTHORS Daws MR, Sullam PM, Niemi EC, Chen TT, Tchao NK and Seaman WE. TITLE Pattern recognition by TREM-2: binding of anionic ligands JOURNAL J Immunol 171 (2), 594-599 (2003) PUBMED 12847223 REMARK GeneRIF: TREM-2a and TREM-2b binding to both Gram-positive and Gram-negative bacteria is disrupted by anionic bacterial products or other anionic carbohydrates and suggests that TREM-2 recognizes pathogens via charged carbohydrates expressed on pathogen surface. REFERENCE 7 (residues 1 to 249) AUTHORS Schmid CD, Sautkulis LN, Danielson PE, Cooper J, Hasel KW, Hilbush BS, Sutcliffe JG and Carson MJ. TITLE Heterogeneous expression of the triggering receptor expressed on myeloid cells-2 on adult murine microglia JOURNAL J Neurochem 83 (6), 1309-1320 (2002) PUBMED 12472885 REFERENCE 8 (residues 1 to 249) AUTHORS Chung DH, Seaman WE and Daws MR. TITLE Characterization of TREM-3, an activating receptor on mouse macrophages: definition of a family of single Ig domain receptors on mouse chromosome 17 JOURNAL Eur J Immunol 32 (1), 59-66 (2002) PUBMED 11754004 REFERENCE 9 (residues 1 to 249) AUTHORS Daws MR, Lanier LL, Seaman WE and Ryan JC. TITLE Cloning and characterization of a novel mouse myeloid DAP12-associated receptor family JOURNAL Eur J Immunol 31 (3), 783-791 (2001) PUBMED 11241283 REFERENCE 10 (residues 1 to 249) AUTHORS Bouchon A, Dietrich J and Colonna M. TITLE Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes JOURNAL J Immunol 164 (10), 4991-4995 (2000) PUBMED 10799849 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC166164.2, AY187009.1, AK039477.1 and BY541740.1. Summary: The protein encoded by this gene is part of the immunoglobulin and lectin-like superfamily and functions as part of the innate immune system. This gene forms part of a cluster of genes on mouse chromosome 17 thought to be involved in innate immunity. This protein associates with the adaptor protein Dap-12 and recruits several factors, such as kinases and phospholipase C-gamma, to form a receptor signaling complex that activates myeloid cells, including dendritic cells and microglia. In humans homozygous loss-of-function mutations in this gene cause Nasu-Hakola disease and mutations in this gene may be risk factors to the development of Alzheimer's disease. In mouse mutations of this gene serve as a pathophysiological model for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola disease) and for inflammatory bowel disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (2) uses an alternate acceptor splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a longer and distinct C-terminus that lacks a transmembrane domain, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK155163.1, AY187009.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..249 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 23.99 cM" Protein 1..249 /product="triggering receptor expressed on myeloid cells 2 isoform 2 precursor" /note="triggering receptor expressed on myeloid cells 2b; triggering receptor expressed on myeloid cells 2c; triggering receptor expressed on myeloid cells 2a; triggering receptor expressed on monocytes 2" /calculated_mol_wt=25356 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1966 Region 21..128 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:448366" Region 32..36 /region_name="Ig strand B" /note="Ig strand B [structural motif]" /db_xref="CDD:409353" Region 47..51 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409353" Region 93..97 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409353" Region 107..112 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409353" Region 123..126 /region_name="Ig strand G" /note="Ig strand G [structural motif]" /db_xref="CDD:409353" CDS 1..249 /gene="Trem2" /gene_synonym="TREM-2; Trem2a; Trem2b; Trem2c" /coded_by="NM_001272078.1:156..905" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS70825.1" /db_xref="GeneID:83433" /db_xref="MGI:MGI:1913150" ORIGIN 1 mgplhqflll litalsqaln ttvlqgmagq slrvsctyda lkhwgrrkaw crqlgeegpc 61 qrvvsthgvw llaflkkrng stviaddtla gtvtitlknl qagdaglyqc qslrgreaev 121 lqkvlvevle dplddqdagd lwvpeesssf egaqvehsts rqvsscgspl ayhlpplske 181 srdllpthlh ssppglrspe qvscsqhplg cgqgqaeagn tcgqraglwp rcwaptsdph 241 wtrryvref // LOCUS NP_082549 287 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 2 [Mus musculus]. ACCESSION NP_082549 XP_132261 VERSION NP_082549.2 DBSOURCE REFSEQ: accession NM_028273.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 287) AUTHORS Cai C, Li Z, Zheng Z, Guo Z, Li Q, Deng S, Shi N, Ou Q, Zhou H, Guo Z, Chen Z and Zhu H. TITLE Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response JOURNAL Int J Biol Sci 19 (14), 4657-4671 (2023) PUBMED 37781037 REMARK GeneRIF: Pgam5-mediated PHB2 dephosphorylation contributes to endotoxemia-induced myocardial dysfunction by inhibiting mitophagy and the mitochondrial unfolded protein response. Publication Status: Online-Only REFERENCE 2 (residues 1 to 287) AUTHORS Dai C, Qu B, Peng B, Liu B, Li Y, Niu C, Peng B and Li D. TITLE Phosphoglycerate mutase 5 facilitates mitochondrial dysfunction and neuroinflammation in spinal tissues after spinal cord injury JOURNAL Int Immunopharmacol 116, 109773 (2023) PUBMED 36773566 REMARK GeneRIF: Phosphoglycerate mutase 5 facilitates mitochondrial dysfunction and neuroinflammation in spinal tissues after spinal cord injury. REFERENCE 3 (residues 1 to 287) AUTHORS Li J, Sun X, Yang N, Ni J, Xie H, Guo H, Wang X, Zhou L, Liu J, Chen S, Wang X, Zhang Y, Yu C, Zhang W and Lu L. TITLE Phosphoglycerate mutase 5 initiates inflammation in acute kidney injury by triggering mitochondrial DNA release by dephosphorylating the pro-apoptotic protein Bax JOURNAL Kidney Int 103 (1), 115-133 (2023) PUBMED 36089186 REMARK GeneRIF: Phosphoglycerate mutase 5 initiates inflammation in acute kidney injury by triggering mitochondrial DNA release by dephosphorylating the pro-apoptotic protein Bax. REFERENCE 4 (residues 1 to 287) AUTHORS Denk D, Petrocelli V, Conche C, Drachsler M, Ziegler PK, Braun A, Kress A, Nicolas AM, Mohs K, Becker C, Neurath MF, Farin HF, Buchholz CJ, Andreux PA, Rinsch C and Greten FR. TITLE Expansion of T memory stem cells with superior anti-tumor immunity by Urolithin A-induced mitophagy JOURNAL Immunity 55 (11), 2059-2073 (2022) PUBMED 36351375 REFERENCE 5 (residues 1 to 287) AUTHORS Zhu P, Wang J, Du W, Ren J, Zhang Y, Xie F and Xu G. TITLE NR4A1 Promotes LPS-Induced Acute Lung Injury through Inhibition of Opa1-Mediated Mitochondrial Fusion and Activation of PGAM5-Related Necroptosis JOURNAL Oxid Med Cell Longev 2022, 6638244 (2022) PUBMED 35222801 REMARK GeneRIF: NR4A1 Promotes LPS-Induced Acute Lung Injury through Inhibition of Opa1-Mediated Mitochondrial Fusion and Activation of PGAM5-Related Necroptosis. Publication Status: Online-Only REFERENCE 6 (residues 1 to 287) AUTHORS Kang YJ, Bang BR, Han KH, Hong L, Shim EJ, Ma J, Lerner RA and Otsuka M. TITLE Regulation of NKT cell-mediated immune responses to tumours and liver inflammation by mitochondrial PGAM5-Drp1 signalling JOURNAL Nat Commun 6, 8371 (2015) PUBMED 26381214 REMARK GeneRIF: Results identify a crucial role for RIPK3-PGAM5-Drp1/NFAT signalling in NKT cell activation, and further suggest that RIPK3-PGAM5 signalling may mediate crosstalk between mitochondrial function and immune signalling. Publication Status: Online-Only REFERENCE 7 (residues 1 to 287) AUTHORS Lu W, Karuppagounder SS, Springer DA, Allen MD, Zheng L, Chao B, Zhang Y, Dawson VL, Dawson TM and Lenardo M. TITLE Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder JOURNAL Nat Commun 5, 4930 (2014) PUBMED 25222142 REMARK GeneRIF: Loss of PGAM5 disables PINK1-mediated mitophagy in vitro and leads to dopaminergic neurodegeneration and mild dopamine loss in vivo causing a Parkinson's-like movement disorder. Publication Status: Online-Only REFERENCE 8 (residues 1 to 287) AUTHORS Wilkins JM, McConnell C, Tipton PA and Hannink M. TITLE A conserved motif mediates both multimer formation and allosteric activation of phosphoglycerate mutase 5 JOURNAL J Biol Chem 289 (36), 25137-25148 (2014) PUBMED 25012655 REMARK GeneRIF: Data indicate that phosphoglycerate mutase 5 (PGAM5) contains an N-terminal WDXNWD motif required for multimerization and maximal phosphatase activity. REFERENCE 9 (residues 1 to 287) AUTHORS Wang Z, Jiang H, Chen S, Du F and Wang X. TITLE The mitochondrial phosphatase PGAM5 functions at the convergence point of multiple necrotic death pathways JOURNAL Cell 148 (1-2), 228-243 (2012) PUBMED 22265414 REMARK GeneRIF: Experimental data indicate that the two splice variants of the mitochondrial protein phosphatase PGAM5 are at the convergent point of multiple necrosis pathways. REFERENCE 10 (residues 1 to 287) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY101410.1, BC138925.1, AK034588.1 and BY620990.1. On Jul 23, 2009 this sequence version replaced NP_082549.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, which results in a protein (isoform 2) which is 1 amino acid shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK034588.1, SRR1660817.94988.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..287 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 53.43 cM" Protein 1..287 /product="serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 2" /EC_number="3.1.3.16" /note="serine/threonine-protein phosphatase PGAM5, mitochondrial" /calculated_mol_wt=31735 Site 7..29 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Region 13..285 /region_name="HP" /note="Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction; cl11399" /db_xref="CDD:448243" Site 24..25 /site_type="cleavage" /note="Cleavage, by PARL. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Region 76..81 /region_name="Interaction with KEAP1. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 79 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 86 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site order(103..104,151,228..229) /site_type="active" /note="catalytic core [active]" /db_xref="CDD:132718" Site 115 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 143 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" Site 190 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q96HS1; propagated from UniProtKB/Swiss-Prot (Q8BX10.1)" CDS 1..287 /gene="Pgam5" /gene_synonym="2610528A17Rik" /coded_by="NM_028273.3:61..924" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS19523.1" /db_xref="GeneID:72542" /db_xref="MGI:MGI:1919792" ORIGIN 1 mafrqalqla acglaggsaa vlfsavavgk prgggdadtr ateppawtga ragrgvwdtn 61 wdrreplsli nlkkrnvesg edeltsrldh ykakatrhif lirhsqyhvd gslekdrtlt 121 plgreqaelt glrlaslglk fnkivhssmt ravettdiis khlpgvsrvs tdllregapi 181 epdppvshwk peavyyedga rieaafrnyi hradarqeed syeifichan viryivcral 241 qfppegwlrl slnngsithl virpngrval rtlgdtgfmp pdkitrs // LOCUS NP_032521 135 aa linear ROD 09-OCT-2023 DEFINITION galectin-1 [Mus musculus]. ACCESSION NP_032521 VERSION NP_032521.1 DBSOURCE REFSEQ: accession NM_008495.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 135) AUTHORS Kiss T, Mir Y, Stefancsik G, Ganbat G, Askarova A, Monostori E, Dulka K, Szebeni GJ, Nyul-Toth A, Csiszar A and Legradi A. TITLE Galectin-1 as a marker for microglia activation in the aging brain JOURNAL Brain Res 1818, 148517 (2023) PUBMED 37557976 REMARK GeneRIF: Galectin-1 as a marker for microglia activation in the aging brain. REFERENCE 2 (residues 1 to 135) AUTHORS Zheng Y, Zhang H, Xiao C, Deng Z, Fan T, Zheng B, Li C and He J. TITLE KLF12 overcomes anti-PD-1 resistance by reducing galectin-1 in cancer cells JOURNAL J Immunother Cancer 11 (8) (2023) PUBMED 37586772 REMARK GeneRIF: KLF12 overcomes anti-PD-1 resistance by reducing galectin-1 in cancer cells. REFERENCE 3 (residues 1 to 135) AUTHORS Feng C, Cross AS and Vasta GR. TITLE Galectin-1 mediates interactions between polymorphonuclear leukocytes and vascular endothelial cells, and promotes their extravasation during lipopolysaccharide-induced acute lung injury JOURNAL Mol Immunol 156, 127-135 (2023) PUBMED 36921487 REMARK GeneRIF: Galectin-1 mediates interactions between polymorphonuclear leukocytes and vascular endothelial cells, and promotes their extravasation during lipopolysaccharide-induced acute lung injury. REFERENCE 4 (residues 1 to 135) AUTHORS Cai S, Si N, Wang Y and Yin N. TITLE Transcriptomic analysis of the upper lip and primary palate development in mice JOURNAL Front Genet 13, 1039850 (2023) PUBMED 36685938 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 135) AUTHORS Li J, Pan Y, Yang J, Wang J, Jiang Q, Dou H and Hou Y. TITLE Tumor necrosis factor-alpha-primed mesenchymal stem cell-derived exosomes promote M2 macrophage polarization via Galectin-1 and modify intrauterine adhesion on a novel murine model JOURNAL Front Immunol 13, 945234 (2022) PUBMED 36591221 REMARK GeneRIF: Tumor necrosis factor-alpha-primed mesenchymal stem cell-derived exosomes promote M2 macrophage polarization via Galectin-1 and modify intrauterine adhesion on a novel murine model. Publication Status: Online-Only REFERENCE 6 (residues 1 to 135) AUTHORS Wells V and Mallucci L. TITLE Molecular expression of the negative growth factor murine beta-galactoside binding protein (mGBP) JOURNAL Biochim Biophys Acta 1121 (3), 239-244 (1992) PUBMED 1627600 REFERENCE 7 (residues 1 to 135) AUTHORS Poirier F, Timmons PM, Chan CT, Guenet JL and Rigby PW. TITLE Expression of the L14 lectin during mouse embryogenesis suggests multiple roles during pre- and post-implantation development JOURNAL Development 115 (1), 143-155 (1992) PUBMED 1638977 REFERENCE 8 (residues 1 to 135) AUTHORS Chiariotti L, Wells V, Bruni CB and Mallucci L. TITLE Structure and expression of the negative growth factor mouse beta-galactoside binding protein gene JOURNAL Biochim Biophys Acta 1089 (1), 54-60 (1991) PUBMED 2025648 REFERENCE 9 (residues 1 to 135) AUTHORS Wells V and Mallucci L. TITLE Identification of an autocrine negative growth factor: mouse beta-galactoside-binding protein is a cytostatic factor and cell growth regulator JOURNAL Cell 64 (1), 91-97 (1991) PUBMED 1986871 REFERENCE 10 (residues 1 to 135) AUTHORS Cooper DN and Barondes SH. TITLE Evidence for export of a muscle lectin from cytosol to extracellular matrix and for a novel secretory mechanism JOURNAL J Cell Biol 110 (5), 1681-1691 (1990) PUBMED 2335567 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from X66532.1 and BE956470.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X66532.1, BY704534.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..135 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="15" /map="15 37.7 cM" Protein 1..135 /product="galectin-1" /note="beta-galactoside binding protein; galaptin; 14 kDa lectin; S-Lac lectin 1; lactose-binding lectin 1; lectin galactoside-binding soluble 1; beta-galactoside-binding lectin L-14-I" /calculated_mol_wt=14735 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P09382; propagated from UniProtKB/Swiss-Prot (P16045.3)" Region 11..135 /region_name="GLECT" /note="Galectin; smart00276" /db_xref="CDD:214596" Site order(13..15,18,21,91..93,98,100,103) /site_type="other" /note="putative alternate dimerization interface [polypeptide binding]" /db_xref="CDD:238025" Site 13 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P16045.3)" Site 19 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P16045.3)" Site 29 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P16045.3)" Site 30 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P09382; propagated from UniProtKB/Swiss-Prot (P16045.3)" Site order(45,47,49,60,62,69,72,74) /site_type="other" /note="sugar binding pocket [chemical binding]" /db_xref="CDD:238025" Site 108 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P16045.3)" Site 128 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0007744|PubMed:23806337; propagated from UniProtKB/Swiss-Prot (P16045.3)" CDS 1..135 /gene="Lgals1" /gene_synonym="Gal-1; Galbp; galectin-1; L-14.5; L14; Lect14" /coded_by="NM_008495.2:72..479" /db_xref="CCDS:CCDS27628.1" /db_xref="GeneID:16852" /db_xref="MGI:MGI:96777" ORIGIN 1 macglvasnl nlkpgeclkv rgevasdaks fvlnlgkdsn nlclhfnprf nahgdantiv 61 cntkedgtwg tehrepafpf qpgsitevci tfdqadltik lpdghefkfp nrlnmeainy 121 maadgdfkik cvafe // LOCUS NP_001128572 235 aa linear ROD 09-OCT-2023 DEFINITION interleukin-34 isoform 1 precursor [Mus musculus]. ACCESSION NP_001128572 VERSION NP_001128572.1 DBSOURCE REFSEQ: accession NM_001135100.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 235) AUTHORS Ho A, Ngala B, Yamada C, Garcia C, Duarte C, Akkaoui J, Ciolac D, Nusbaum A, Kochen W, Efremova D, Groppa S, Nathanson L, Bissel S, Oblak A, Kacena MA and Movila A. TITLE IL-34 exacerbates pathogenic features of Alzheimer's disease and calvaria osteolysis in triple transgenic (3x-Tg) female mice JOURNAL Biomed Pharmacother 166, 115435 (2023) PUBMED 37666180 REMARK GeneRIF: IL-34 exacerbates pathogenic features of Alzheimer's disease and calvaria osteolysis in triple transgenic (3x-Tg) female mice. REFERENCE 2 (residues 1 to 235) AUTHORS Zhuang L, Zong X, Yang Q, Fan Q and Tao R. TITLE Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization JOURNAL EBioMedicine 95, 104744 (2023) PUBMED 37556943 REMARK GeneRIF: Interleukin-34-NF-kappaB signaling aggravates myocardial ischemic/reperfusion injury by facilitating macrophage recruitment and polarization. REFERENCE 3 (residues 1 to 235) AUTHORS Xie X, Zhang W, Xiao M, Wei T, Qiu Y, Qiu J, Wang H, Qiu Z, Zhang S, Pan Y, Mao L, Li Y, Guo B, Yang W, Hu Y, Hu S, Gong Y, Yang J, Xiao G, Zhang Y and Bai X. TITLE TREM2 acts as a receptor for IL-34 to suppress acute myeloid leukemia in mice JOURNAL Blood 141 (26), 3184-3198 (2023) PUBMED 37001042 REMARK GeneRIF: TREM2 acts as a receptor for IL-34 to suppress acute myeloid leukemia in mice. REFERENCE 4 (residues 1 to 235) AUTHORS Chae DS, Han S, Lee MK and Kim SW. TITLE BMP-2 Genome-Edited Human MSCs Protect against Cartilage Degeneration via Suppression of IL-34 in Collagen-Induced Arthritis JOURNAL Int J Mol Sci 24 (9), 8223 (2023) PUBMED 37175932 REMARK GeneRIF: BMP-2 Genome-Edited Human MSCs Protect against Cartilage Degeneration via Suppression of IL-34 in Collagen-Induced Arthritis. Publication Status: Online-Only REFERENCE 5 (residues 1 to 235) AUTHORS Su Y, Cao Y, Liu C, Xu Q, Li N, Lan M, Li L, Wang K, Zhang Z and Meng Q. TITLE Inactivating IL34 promotes regenerating muscle stem cell expansion and attenuates Duchenne muscular dystrophy in mouse models JOURNAL Theranostics 13 (8), 2588-2604 (2023) PUBMED 37215564 REMARK GeneRIF: Inactivating IL34 promotes regenerating muscle stem cell expansion and attenuates Duchenne muscular dystrophy in mouse models. Publication Status: Online-Only REFERENCE 6 (residues 1 to 235) AUTHORS Chen Z, Buki K, Vaaraniemi J, Gu G and Vaananen HK. TITLE The critical role of IL-34 in osteoclastogenesis JOURNAL PLoS One 6 (4), e18689 (2011) PUBMED 21494622 REMARK GeneRIF: This study was to explore the biological function, specifically osteoclastogenesis and bone metabolism, of il-34. Publication Status: Online-Only REFERENCE 7 (residues 1 to 235) AUTHORS Chihara T, Suzu S, Hassan R, Chutiwitoonchai N, Hiyoshi M, Motoyoshi K, Kimura F and Okada S. TITLE IL-34 and M-CSF share the receptor Fms but are not identical in biological activity and signal activation JOURNAL Cell Death Differ 17 (12), 1917-1927 (2010) PUBMED 20489731 REFERENCE 8 (residues 1 to 235) AUTHORS Wei S, Nandi S, Chitu V, Yeung YG, Yu W, Huang M, Williams LT, Lin H and Stanley ER. TITLE Functional overlap but differential expression of CSF-1 and IL-34 in their CSF-1 receptor-mediated regulation of myeloid cells JOURNAL J Leukoc Biol 88 (3), 495-505 (2010) PUBMED 20504948 REMARK GeneRIF: The different spatiotemporal expression of IL-34 and CSF-1 allows for complementary activation of the CSF-1R in developing and adult tissues. REFERENCE 9 (residues 1 to 235) AUTHORS Baud'huin M, Renault R, Charrier C, Riet A, Moreau A, Brion R, Gouin F, Duplomb L and Heymann D. TITLE Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis JOURNAL J Pathol 221 (1), 77-86 (2010) PUBMED 20191615 REFERENCE 10 (residues 1 to 235) AUTHORS Lin H, Lee E, Hestir K, Leo C, Huang M, Bosch E, Halenbeck R, Wu G, Zhou A, Behrens D, Hollenbaugh D, Linnemann T, Qin M, Wong J, Chu K, Doberstein SK and Williams LT. TITLE Discovery of a cytokine and its receptor by functional screening of the extracellular proteome JOURNAL Science 320 (5877), 807-811 (2008) PUBMED 18467591 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY148512.1, AK008082.1 and AW743837.1. Transcript Variant: This variant (1) encodes the longer protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016254.1, SRR7652917.590638.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..235 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 57.68 cM" Protein 1..235 /product="interleukin-34 isoform 1 precursor" /calculated_mol_wt=24578 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2205 Region 28..184 /region_name="IL34" /note="Interleukin 34; pfam15036" /db_xref="CDD:434409" Site 100 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8R1R4.1)" CDS 1..235 /gene="Il34" /gene_synonym="2010004A03Rik" /coded_by="NM_001135100.2:584..1291" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS52669.1" /db_xref="GeneID:76527" /db_xref="MGI:MGI:1923777" ORIGIN 1 mpwglawlyc lgilldvalg nenleiwtlt qdkecdltgy lrgklqyknr lqymkhyfpi 61 nyriavpyeg vlrvanitrl qkahvserel rylwvlvsln atesvmdvll eghpswkylq 121 evqtllenvq rslmdveigp hveavlslls tpglslklvr pkalldncfr vmellycscc 181 kqspilkwqd celprlhphs pgslmqctat nvyplsrqtp tslpgspsss hgslp // LOCUS NP_001349212 534 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 9 [Mus musculus]. ACCESSION NP_001349212 VERSION NP_001349212.1 DBSOURCE REFSEQ: accession NM_001362283.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 534) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 534) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 534) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 534) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 534) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 534) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 534) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 534) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 534) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 534) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.65164.1, SRR6116558.169242.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..534 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..534 /product="CUGBP Elav-like family member 4 isoform 9" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=56822 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..>443 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..534 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362283.1:531..2135" /note="isoform 9 is encoded by transcript variant 15" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgrhpvpsr cqapscqggq caisssarrl relrqpgqrt 481 drhpgherlp drheeaqgaa eaaqrrqspv lsaggsvprg rpglaqgrml nglh // LOCUS NP_001394506 426 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 3 [Mus musculus]. ACCESSION NP_001394506 XP_017176377 VERSION NP_001394506.1 DBSOURCE REFSEQ: accession NM_001407577.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 426) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 426) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 426) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 426) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 426) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 426) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 426) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 426) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 426) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 426) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_017176377.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.12259.1, SRR7652917.93010.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..426 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..426 /product="mitogen-activated protein kinase 10 isoform 3" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=47997 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..426 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407577.1:951..2231" /note="isoform 3 is encoded by transcript variant 12" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsg aavnsseslp psssvndiss mstdqtlasd tdssleasag 421 plgccr // LOCUS NP_001348622 515 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform f [Mus musculus]. ACCESSION NP_001348622 XP_017176932 VERSION NP_001348622.1 DBSOURCE REFSEQ: accession NM_001361693.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 515) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 515) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 515) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 515) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 515) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 515) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 515) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 515) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 515) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC153632.2. On Mar 29, 2018 this sequence version replaced XP_017176932.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.41920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849390 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..515 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..515 /product="nuclear respiratory factor 1 isoform f" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=54726 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" Region 462..514 /region_name="Nrf1_activ_bdg" /note="Nrf1 activator activation site binding domain; pfam10492" /db_xref="CDD:431313" CDS 1..515 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001361693.2:1815..3362" /note="isoform f is encoded by transcript variant 8" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglvqipvsm yqtvvtslaq 481 gngpvqvama pvttrisdsa vtmdgqavev vtleq // LOCUS NP_001351350 645 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 2 [Mus musculus]. ACCESSION NP_001351350 XP_006509143 VERSION NP_001351350.1 DBSOURCE REFSEQ: accession NM_001364421.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 645) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 645) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 645) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 645) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 645) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 645) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 645) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 645) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 645) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 645) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC136147.4, AC132407.3 and AC127374.4. On Jun 16, 2018 this sequence version replaced XP_006509143.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY648976.1, SRR14995047.521323.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..645 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..645 /product="pro-neuregulin-1, membrane-bound isoform isoform 2" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=71251 Region 1..52 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 37..129 /region_name="Ig_Pro_neuregulin-1" /note="Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1; cd05895" /db_xref="CDD:409476" Region 37..43 /region_name="putative Ig strand A" /note="putative Ig strand A [structural motif]" /db_xref="CDD:409476" Region 51..59 /region_name="Ig strand B" /note="Ig strand B [structural motif]" /db_xref="CDD:409476" Region 66..71 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409476" Region 85..90 /region_name="putative Ig strand D" /note="putative Ig strand D [structural motif]" /db_xref="CDD:409476" Region 95..99 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409476" Region 109..114 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409476" Region 121..129 /region_name="Ig strand G" /note="Ig strand G [structural motif]" /db_xref="CDD:409476" Region 139..175 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 190..220 /region_name="EGF" /note="EGF-like domain; pfam00008" /db_xref="CDD:394967" Site 248..268 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 272..627 /region_name="Neuregulin" /note="Neuregulin family; pfam02158" /db_xref="CDD:426627" Region 340..364 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 380..406 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 433..463 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" Region 531..593 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q6DR98.1)" CDS 1..645 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364421.2:396..2333" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS90385.1" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 mserkegrgk gkgkkkdrgs rgkpapaegd pspalpprlk emksqesaag sklvlrcets 61 seysslrfkw fkngnelnrr nkpqnvkiqk kpgkselrin kasladsgey mckvisklgn 121 dsasanitiv esndlttgms asterpyvss espirisvst egantsssts tsttgtshli 181 kcaekektfc vnggecfmvk dlsnpsrylc kcpneftgdr cqnyvmasfy khlgiefmea 241 eelyqkrvlt itgiciallv vgimcvvayc ktkkqrqklh drlrqslrse rnnmvniang 301 phhpnpppen vqlvnqyvsk nvissehive revetsfsts hytstahhst tvtqtpshsw 361 snghtesiis eshsvimmss vensrhsspa ggprgrlhgl ggprecnsfl rharetpdsy 421 rdsphseryv samttparms pvdfhtpssp ksppsemspp vssmtvsmps vavspfveee 481 rplllvtppr lrekkydhhp qqlnsfhhnp ahqstslpps plrivedeey ettqeyepiq 541 epikkvtnsr rakrtkpngh ianrlemdsn pssvssnses etedervged tpflgiqnpl 601 aaslevapaf rlaesrtnpa grfstqeelq arlssvianq dpiav // LOCUS NP_001407810 1256 aa linear ROD 09-OCT-2023 DEFINITION period circadian protein homolog 2 isoform 2 [Mus musculus]. ACCESSION NP_001407810 XP_006529312 VERSION NP_001407810.1 DBSOURCE REFSEQ: accession NM_001420881.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1256) AUTHORS Millius A, Yamada RG, Fujishima H, Maeda K, Standley DM, Sumiyama K, Perrin D and Ueda HR. TITLE Circadian ribosome profiling reveals a role for the Period2 upstream open reading frame in sleep JOURNAL Proc Natl Acad Sci U S A 120 (40), e2214636120 (2023) PUBMED 37769257 REMARK GeneRIF: Circadian ribosome profiling reveals a role for the Period2 upstream open reading frame in sleep. REFERENCE 2 (residues 1 to 1256) AUTHORS Sayson LV, Lee HJ, Ortiz DM, Kim M, Custodio RJP, Lee CH, Lee YS, Cheong JH and Kim HJ. TITLE The differential vulnerabilities of Per2 knockout mice to the addictive properties of methamphetamine and cocaine JOURNAL Prog Neuropsychopharmacol Biol Psychiatry 126, 110782 (2023) PUBMED 37141987 REMARK GeneRIF: The differential vulnerabilities of Per2 knockout mice to the addictive properties of methamphetamine and cocaine. REFERENCE 3 (residues 1 to 1256) AUTHORS Bora G, Onel T, Yildirim E and Yaba A. TITLE Circadian regulation of mTORC1 signaling via Per2 dependent mechanism disrupts folliculogenesis and oocyte maturation in female mice JOURNAL J Mol Histol 54 (3), 217-229 (2023) PUBMED 37162693 REMARK GeneRIF: Circadian regulation of mTORC1 signaling via Per2 dependent mechanism disrupts folliculogenesis and oocyte maturation in female mice. REFERENCE 4 (residues 1 to 1256) AUTHORS Guo L, Cen H, Weng J, He Y, Guo X, He D, Liu K, Duan S, Yang J, Zhang X, Qin Z, Wan Y, Chen Z and Wu B. TITLE PER2 integrates circadian disruption and pituitary tumorigenesis JOURNAL Theranostics 13 (8), 2657-2672 (2023) PUBMED 37215573 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 1256) AUTHORS Wendrich KS, Azimi H, Ripperger JA, Ravussin Y, Rainer G and Albrecht U. TITLE Deletion of the Circadian Clock Gene Per2 in the Whole Body, but Not in Neurons or Astroglia, Affects Sleep in Response to Sleep Deprivation JOURNAL Clocks Sleep 5 (2), 204-225 (2023) PUBMED 37092429 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1256) AUTHORS Takumi T, Taguchi K, Miyake S, Sakakida Y, Takashima N, Matsubara C, Maebayashi Y, Okumura K, Takekida S, Yamamoto S, Yagita K, Yan L, Young MW and Okamura H. TITLE A light-independent oscillatory gene mPer3 in mouse SCN and OVLT JOURNAL EMBO J 17 (16), 4753-4759 (1998) PUBMED 9707434 REFERENCE 7 (residues 1 to 1256) AUTHORS Sassone-Corsi,P. TITLE Molecular clocks: mastering time by gene regulation JOURNAL Nature 392 (6679), 871-874 (1998) PUBMED 9582067 REFERENCE 8 (residues 1 to 1256) AUTHORS Takumi T, Matsubara C, Shigeyoshi Y, Taguchi K, Yagita K, Maebayashi Y, Sakakida Y, Okumura K, Takashima N and Okamura H. TITLE A new mammalian period gene predominantly expressed in the suprachiasmatic nucleus JOURNAL Genes Cells 3 (3), 167-176 (1998) PUBMED 9619629 REFERENCE 9 (residues 1 to 1256) AUTHORS Albrecht U, Sun ZS, Eichele G and Lee CC. TITLE A differential response of two putative mammalian circadian regulators, mper1 and mper2, to light JOURNAL Cell 91 (7), 1055-1064 (1997) PUBMED 9428527 REFERENCE 10 (residues 1 to 1256) AUTHORS Shearman LP, Zylka MJ, Weaver DR, Kolakowski LF Jr and Reppert SM. TITLE Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei JOURNAL Neuron 19 (6), 1261-1269 (1997) PUBMED 9427249 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC109199.10 and AC110510.6. On May 9, 2023 this sequence version replaced XP_006529312.1. Summary: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219380.30240.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1256 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 46.13 cM" Protein 1..1256 /product="period circadian protein homolog 2 isoform 2" /note="period 2; period circadian protein homolog 2; circadian clock protein PERIOD 2; period homolog 2" /calculated_mol_wt=135682 Region 1..60 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 108..117 /region_name="Nuclear export signal 1. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 305..309 /region_name="LXXLL" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 343..427 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:430001" Site order(343,347,353,366..369,397,402) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(363,367,375,378..379,409,411) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region <444..>981 /region_name="PRK10263" /note="DNA translocase FtsK; Provisional" /db_xref="CDD:236669" Region 459..468 /region_name="Nuclear export signal 2. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 470..564 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 477..481 /region_name="Important for protein stability. /evidence=ECO:0000250|UniProtKB:Q9Z301" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 509..708 /region_name="CSNK1E binding domain. /evidence=ECO:0000269|PubMed:14701732" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 524 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 527 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 530 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 537 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 543 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 553 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 616..637 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 658 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O15055; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 692 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 696 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:17242355, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 705 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 756..831 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 757 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 762 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 777..793 /region_name="Nuclear localization signal. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region <789..1037 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Site 857 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 881..1066 /region_name="Interaction with PPARG. /evidence=ECO:0000269|PubMed:21035761" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 938 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 963 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 970 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 982..989 /region_name="Nuclear export signal 3. /evidence=ECO:0000269|PubMed:11889036" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 993..1043 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1039..1209 /region_name="Period_C" /note="Period protein 2/3C-terminal region; pfam12114" /db_xref="CDD:432341" Region 1050..1054 /region_name="LXXLL" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1069..1114 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Site 1125 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:16097765; propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1156..1256 /region_name="CRY binding domain. /evidence=ECO:0000250|UniProtKB:Q9Z301" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" Region 1223..1256 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O54943.3)" CDS 1..1256 /gene="Per2" /gene_synonym="mKIAA0347; mPer2" /coded_by="NM_001420881.1:153..3923" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:18627" /db_xref="MGI:MGI:1195265" ORIGIN 1 mngyvdfsps ptsptkepga pqptqavlqe dvdmssgssg nencstgrds qgsdcddngk 61 elrmlvessn thpspddafr lmmteaehnp stsgcseqsa kadahkelir tlkelkvhlp 121 adkkakgkas tlatlkyalr svkqvkanee yyqllmsses qpcsvdvpsy smeqvegits 181 eyivknadmf avavslvsgk ilyisnqvas ifhckkdafs dakfveflap hdvsvfhsyt 241 tpyklppwsv csgldsftqe cmeeksffcr vsvgkhhene iryqpfrmtp ylvkvqeqqg 301 aesqlcclll aervhsgyea prippekrif ttthtpnclf qavderavpl lgylpqdlie 361 tpvlvqlhps drplmlaihk kilqaggqpf dyspirfrtr ngeyitldts wssfinpwsr 421 kisfiigrhk vrvgplnedv faaspcpeek tphpsvqelt eqihrllmqp vphsgssgyg 481 slgsngsheh lmsqtsssds ngqeeshrrr sgifktsgki qtkshvshes ggqkeasvae 541 mqssppaqvk avttierdss gaslpkasfp eelayknqpp csyqqiscld svirylescs 601 eaatlkrkce fpanipsrka tvspglhsge aarpskvtsh tevsahlssl tlpgkaesvv 661 sltsqcsyss tivhvgdkkp qpeletvedm asgpesldga agglsqekgp lqklgltkev 721 laahtqreeq gflqrfrevs rlsalqahcq nylqersraq asdrglrnts glesswkktg 781 knrklkskrv ktrdssestg sggpvshrpp lmglnataws psdtsqsscp sapfptavpa 841 yplpvfqapg ivstpgtvva ppaathtgft mpvvpmgtqp efavqplpfa aplapvmafm 901 lpsypfppat pnlpqaflps qphfpahptl aseitpasqa efpsrtstlr qpcacpvtpp 961 agtvalgras pplfqsrgss plqlnllqle eapegstgaa gtlgttgtaa sgldctsgts 1021 rdrqpkappt cnepsdtqns daistssdll nlllgedlcs atgsalsrsg asatsdslgs 1081 sslgfgtsqs gagssdtsht skyfgsidss ennhkakmip dteeseqfik yvlqdpiwll 1141 mantddsimm tyqlpsrdlq avlkedqekl kllqrsqprf tegqrrelre vhpwvhtggl 1201 ptaidvtgcv yceseekgni clpyeedsps pglcdtseak eeegeqltgp rieaqt // LOCUS NP_001394521 384 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 5 [Mus musculus]. ACCESSION NP_001394521 XP_017176380 VERSION NP_001394521.1 DBSOURCE REFSEQ: accession NM_001407592.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 384) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 384) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 384) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 384) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 384) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 384) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 384) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 384) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 384) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 384) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On Jun 6, 2022 this sequence version replaced XP_017176380.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.140796.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..384 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..384 /product="mitogen-activated protein kinase 10 isoform 5" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=43966 Region 25..360 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190,227) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190,227) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,323..324,326,329) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..384 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407592.1:951..2105" /note="isoform 5 is encoded by transcript variant 20" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykenvdiws vgcimgemvr hkilfpgrdy idqwnkvieq 241 lgtpcpefmk klqptvrnyv enrpkyaglt fpklfpdslf padsehnklk asqardllsk 301 mlvidpakri svddalqhpy invwydpaev eapppqiydk qlderehtie ewkeliykev 361 mnseektkng vvkgqpspsa qvqq // LOCUS NP_033184 422 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 2 [Mus musculus]. ACCESSION NP_033184 NP_795944 VERSION NP_033184.2 DBSOURCE REFSEQ: accession NM_009158.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 422) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 422) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 422) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 422) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 422) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 422) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 422) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 422) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 422) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 422) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. On or before Feb 16, 2007 this sequence version replaced NP_795944.1, NP_033184.1. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Transcript Variant: This variant (2) uses an alternate acceptor splice site at the 3' terminal exon, which causes a frameshift compared to variant 1. The resulting isoform (2, also know as JNK3 alpha1) has a shorter and distinct C-terminus compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.247712.1, SRR1660825.63614.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..422 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..422 /product="mitogen-activated protein kinase 10 isoform 2" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=48356 Region 63..398 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(70..76,78,91,93,110,124,146..152,154..155,189,191, 193..194,196,206..207,210,221,223..226,228,265) /site_type="active" /db_xref="CDD:270840" Site order(70..76,78,91,93,124,146..152,196,206) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(110,154,189,191,210,221,223..226,228,265) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(150,156,165,168,197..201,361..362,364,367) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(206..216,220..228) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" Region 221..223 /region_name="TXY" /note="propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 221 /site_type="phosphorylation" /note="Phosphothreonine, by MAP2K7. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" Site 223 /site_type="phosphorylation" /note="Phosphotyrosine, by MAP2K4. /evidence=ECO:0000250|UniProtKB:P53779; propagated from UniProtKB/Swiss-Prot (Q61831.2)" CDS 1..422 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_009158.4:517..1785" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mslhflyycs eptldvkiaf cqgfdkhvdv ssiakhynms kskvdnqfys vevgdstftv 61 lkryqnlkpi gsgaqgivca aydavldrnv aikklsrpfq nqthakrayr elvlmkcvnh 121 kniisllnvf tpqktleefq dvylvmelmd anlcqviqme ldhermsyll yqmlcgikhl 181 hsagiihrdl kpsnivvksd ctlkildfgl artagtsfmm tpyvvtryyr apevilgmgy 241 kenvdiwsvg cimgemvrhk ilfpgrdyid qwnkvieqlg tpcpefmkkl qptvrnyven 301 rpkyagltfp klfpdslfpa dsehnklkas qardllskml vidpakrisv ddalqhpyin 361 vwydpaevea pppqiydkql derehtieew keliykevmn seektkngvv kgqpspsaqv 421 qq // LOCUS NP_080535 317 aa linear ROD 09-OCT-2023 DEFINITION E3 ubiquitin-protein ligase NRDP1 [Mus musculus]. ACCESSION NP_080535 VERSION NP_080535.2 DBSOURCE REFSEQ: accession NM_026259.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 317) AUTHORS Luo ZY, Jiang TX, Zhang T, Xu P and Qiu XB. TITLE Ubiquitin Ligase Nrdp1 Controls Autophagy-Associated Acrosome Biogenesis and Mitochondrial Arrangement during Spermiogenesis JOURNAL Cells 12 (18), 2211 (2023) PUBMED 37759433 REMARK GeneRIF: Ubiquitin Ligase Nrdp1 Controls Autophagy-Associated Acrosome Biogenesis and Mitochondrial Arrangement during Spermiogenesis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 317) AUTHORS Moreno-Lanceta A, Medrano-Bosch M, Fundora Y, Perramon M, Aspas J, Parra-Robert M, Baena S, Fondevila C, Edelman ER, Jimenez W and Melgar-Lesmes P. TITLE RNF41 orchestrates macrophage-driven fibrosis resolution and hepatic regeneration JOURNAL Sci Transl Med 15 (704), eabq6225 (2023) PUBMED 37437019 REMARK GeneRIF: RNF41 orchestrates macrophage-driven fibrosis resolution and hepatic regeneration. REFERENCE 3 (residues 1 to 317) AUTHORS Meng Z, Xu R, Xie L, Wu Y, He Q, Gao P, He X, Chen Q, Xie Q, Zhang J and Yang Q. TITLE A20/Nrdp1 interaction alters the inflammatory signaling profile by mediating K48- and K63-linked polyubiquitination of effectors MyD88 and TBK1 JOURNAL J Biol Chem 297 (1), 100811 (2021) PUBMED 34023381 REMARK GeneRIF: A20/Nrdp1 interaction alters the inflammatory signaling profile by mediating K48- and K63-linked polyubiquitination of effectors MyD88 and TBK1. REFERENCE 4 (residues 1 to 317) AUTHORS Tullett KM, Tan PS, Park HY, Schittenhelm RB, Michael N, Li R, Policheni AN, Gruber E, Huang C, Fulcher AJ, Danne JC, Czabotar PE, Wakim LM, Mintern JD, Ramm G, Radford KJ, Caminschi I, O'Keeffe M, Villadangos JA, Wright MD, Blewitt ME, Heath WR, Shortman K, Purcell AW, Nicola NA, Zhang JG and Lahoud MH. TITLE RNF41 regulates the damage recognition receptor Clec9A and antigen cross-presentation in mouse dendritic cells JOURNAL Elife 9, e63452 (2020) PUBMED 33264090 REMARK GeneRIF: RNF41 regulates the damage recognition receptor Clec9A and antigen cross-presentation in mouse dendritic cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 317) AUTHORS Yang M, Chen T, Li X, Yu Z, Tang S, Wang C, Gu Y, Liu Y, Xu S, Li W, Zhang X, Wang J and Cao X. TITLE K33-linked polyubiquitination of Zap70 by Nrdp1 controls CD8(+) T cell activation JOURNAL Nat Immunol 16 (12), 1253-1262 (2015) PUBMED 26390156 REMARK GeneRIF: Data suggest that ring finger protein 41 Nrdp1 terminates T cell antigen receptors (TCRs) signaling by inactivating Zap70 kinase. Erratum:[Nat Immunol. 2020 Mar;21(3):355. PMID: 32034311] REFERENCE 6 (residues 1 to 317) AUTHORS Wu X, Yen L, Irwin L, Sweeney C and Carraway KL 3rd. TITLE Stabilization of the E3 ubiquitin ligase Nrdp1 by the deubiquitinating enzyme USP8 JOURNAL Mol Cell Biol 24 (17), 7748-7757 (2004) PUBMED 15314180 REFERENCE 7 (residues 1 to 317) AUTHORS Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC and Ferrin TE. TITLE BayGenomics: a resource of insertional mutations in mouse embryonic stem cells JOURNAL Nucleic Acids Res 31 (1), 278-281 (2003) PUBMED 12520002 REFERENCE 8 (residues 1 to 317) AUTHORS Qiu XB and Goldberg AL. TITLE Nrdp1/FLRF is a ubiquitin ligase promoting ubiquitination and degradation of the epidermal growth factor receptor family member, ErbB3 JOURNAL Proc Natl Acad Sci U S A 99 (23), 14843-14848 (2002) PUBMED 12411582 REMARK Erratum:[Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17220.] REFERENCE 9 (residues 1 to 317) AUTHORS Ogino Y, Suzuki K, Haraguchi R, Satoh Y, Dolle P and Yamada G. TITLE External genitalia formation: role of fibroblast growth factor, retinoic acid signaling, and distal urethral epithelium JOURNAL Ann N Y Acad Sci 948, 13-31 (2001) PUBMED 11795391 REFERENCE 10 (residues 1 to 317) AUTHORS Abdullah JM, Li X, Nachtman RG and Jurecic R. TITLE FLRF, a novel evolutionarily conserved RING finger gene, is differentially expressed in mouse fetal and adult hematopoietic stem cells and progenitors JOURNAL Blood Cells Mol Dis 27 (1), 320-333 (2001) PUBMED 11358394 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK045760.1 and BC049078.1. On Jun 9, 2003 this sequence version replaced NP_080535.1. Transcript Variant: This variant (2) lacks an internal segment in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049078.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849376, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..317 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="10" /map="10 76.55 cM" Protein 1..317 /product="E3 ubiquitin-protein ligase NRDP1" /EC_number="2.3.2.27" /note="RING-type E3 ubiquitin transferase NRDP1" /calculated_mol_wt=35760 Region 15..57 /region_name="mRING-HC-C3HC3D_Nrdp1" /note="Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins; cd16634" /db_xref="CDD:438296" Region 137..315 /region_name="USP8_interact" /note="USP8 interacting; pfam08941" /db_xref="CDD:430333" CDS 1..317 /gene="Rnf41" /gene_synonym="2210404G21Rik; 4930511A05Rik; 4933415P08Rik; D10Ertd722e; FLRF; Nrdp1" /coded_by="NM_026259.3:417..1370" /db_xref="CCDS:CCDS24277.1" /db_xref="GeneID:67588" /db_xref="MGI:MGI:1914838" ORIGIN 1 mgydvtrfqg dvdedlicpi csgvleepvq aphcehafcn acitqwfsqq qtcpvdrsvv 61 tvahlrpvpr imrnmlsklq iacdnavfgc savvrldnlm shlsdcehnp krpvtceqgc 121 glempkdelp nhncikhlrs vvqqqqsria elektsaehk hqlaeqkrdi qllkaymrai 181 rsvnpnlqnl eetieyneil ewvnslqpar vtrwggmist pdavlqavik rslvesgcpa 241 sivneliena herswpqgla tletrqmnrr yyenyvakri pgkqavvvma cenqhmgddm 301 vqepglvmif ahgveei // LOCUS NP_001397160 486 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform i [Mus musculus]. ACCESSION NP_001397160 VERSION NP_001397160.1 DBSOURCE REFSEQ: accession NM_001410231.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 486) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 486) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 486) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 486) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 486) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 486) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 486) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 486) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 486) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 486) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422598.979493.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..486 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..486 /product="nuclear respiratory factor 1 isoform i" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=52037 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..486 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410231.1:271..1731" /note="isoform i is encoded by transcript variant 21" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglfmadcgg ykwilarrlq 481 awsrsl // LOCUS NP_001349251 484 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 39 [Mus musculus]. ACCESSION NP_001349251 VERSION NP_001349251.1 DBSOURCE REFSEQ: accession NM_001362322.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 484) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 484) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 484) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 484) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 484) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 484) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 484) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 484) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 484) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 484) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.27355.1, SRR1660815.54324.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..484 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..484 /product="CUGBP Elav-like family member 4 isoform 39" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51617 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 415..473 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..484 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362322.1:531..1985" /note="isoform 39 is encoded by transcript variant 42" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpay paaygqisqa fpqpppmipq qqregpegcn 421 lliyhlpqef gdaelmqmfl pfgfvsfdnp asaqtaiqam ngfqigmkrl kvqlkrpkda 481 nrpy // LOCUS NP_001240683 267 aa linear ROD 09-OCT-2023 DEFINITION neuronal membrane glycoprotein M6-a isoform 2 [Mus musculus]. ACCESSION NP_001240683 VERSION NP_001240683.1 DBSOURCE REFSEQ: accession NM_001253754.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 267) AUTHORS Li L, Sun Y, Davis AE, Shah SH, Hamed LK, Wu MR, Lin CH, Ding JB and Wang S. TITLE Mettl14-mediated m6A modification ensures the cell-cycle progression of late-born retinal progenitor cells JOURNAL Cell Rep 42 (6), 112596 (2023) PUBMED 37269288 REMARK GeneRIF: Mettl14-mediated m[6]A modification ensures the cell-cycle progression of late-born retinal progenitor cells. REFERENCE 2 (residues 1 to 267) AUTHORS Xie W, Zhang A, Huang X, Zhou H, Ying H, Ye C, Ren M, Qian M, Liu X and Mo Y. TITLE SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION JOURNAL Shock 59 (5), 791-802 (2023) PUBMED 36877222 REMARK GeneRIF: SILENCING M 6 A READER YTHDC1 REDUCES INFLAMMATORY RESPONSE IN SEPSIS-INDUCED CARDIOMYOPATHY BY INHIBITING SERPINA3N EXPRESSION. REFERENCE 3 (residues 1 to 267) AUTHORS Xue A, Huang Y, Li M, Wei Q and Bu Q. TITLE Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice JOURNAL Mol Neurobiol 58 (8), 3759-3768 (2021) PUBMED 33826069 REMARK GeneRIF: Comprehensive Analysis of Differential m6A RNA Methylomes in the Hippocampus of Cocaine-Conditioned Mice. REFERENCE 4 (residues 1 to 267) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 267) AUTHORS Ogawa T, Li Y, Lua I, Hartner A and Asahina K. TITLE Isolation of a unique hepatic stellate cell population expressing integrin alpha8 from embryonic mouse livers JOURNAL Dev Dyn 247 (6), 867-881 (2018) PUBMED 29665133 REFERENCE 6 (residues 1 to 267) AUTHORS Yan Y, Narayanan V and Lagenaur C. TITLE Expression of members of the proteolipid protein gene family in the developing murine central nervous system JOURNAL J Comp Neurol 370 (4), 465-478 (1996) PUBMED 8807448 REFERENCE 7 (residues 1 to 267) AUTHORS Olinsky S, Loop BT, DeKosky A, Ripepi B, Weng W, Cummins J, Wenger SL, Yan Y, Lagenaur C and Narayanan V. TITLE Chromosomal mapping of the human M6 genes JOURNAL Genomics 33 (3), 532-536 (1996) PUBMED 8661015 REFERENCE 8 (residues 1 to 267) AUTHORS Shimizu F, Watanabe TK, Fujiwara T, Takahashi E, Nakamura Y and Maekawa H. TITLE Isolation and mapping of the human glycoprotein M6 gene (GPM6A) to 4q33-->q34 JOURNAL Cytogenet Cell Genet 74 (1-2), 138-139 (1996) PUBMED 8893821 REFERENCE 9 (residues 1 to 267) AUTHORS Yan Y, Lagenaur C and Narayanan V. TITLE Molecular cloning of M6: identification of a PLP/DM20 gene family JOURNAL Neuron 11 (3), 423-431 (1993) PUBMED 8398137 REFERENCE 10 (residues 1 to 267) AUTHORS Baumrind NL, Parkinson D, Wayne DB, Heuser JE and Pearlman AL. TITLE EMA: a developmentally regulated cell-surface glycoprotein of CNS neurons that is concentrated at the leading edge of growth cones JOURNAL Dev Dyn 194 (4), 311-325 (1992) PUBMED 1286213 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC109200.13, CK623810.1, CX564488.1 and BC033357.1. Transcript Variant: This variant (2) has a different segment for its 5' end which results in the use of an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660821.130598.1, SRR1660811.210792.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..267 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 29.33 cM" Protein 1..267 /product="neuronal membrane glycoprotein M6-a isoform 2" /note="neuronal membrane glycoprotein M6-a" /calculated_mol_wt=29714 Region 4..236 /region_name="Myelin_PLP" /note="Myelin proteolipid protein (PLP or lipophilin); pfam01275" /db_xref="CDD:426173" CDS 1..267 /gene="Gpm6a" /gene_synonym="Gpm6; M6A" /coded_by="NM_001253754.1:214..1017" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:234267" /db_xref="MGI:MGI:107671" ORIGIN 1 mgcfeccikc lggipyasli atillyagva lfcgcgheal sgtvnilqty felartagdt 61 ldvftmidif kyviygiaaa ffvygillmv egffttgaik dlygdfkitt cgrcvsawfi 121 mltylfmlaw lgvtaftslp vymyfnvwti crnttlvega nlcldlrqfg ivtigeekki 181 ctasenflrm cestelnmtf hlfivalaga gaaviamvhy lmvlsanway vkdacrmqky 241 edikskeeqe lhdihstrsk erlnayt // LOCUS NP_001300983 165 aa linear ROD 09-OCT-2023 DEFINITION interleukin-6 isoform 2 precursor [Mus musculus]. ACCESSION NP_001300983 VERSION NP_001300983.1 DBSOURCE REFSEQ: accession NM_001314054.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 165) AUTHORS Palmisano B, Riminucci M and Karsenty G. TITLE Interleukin-6 signaling in osteoblasts regulates bone remodeling during exercise JOURNAL Bone 176, 116870 (2023) PUBMED 37586472 REMARK GeneRIF: Interleukin-6 signaling in osteoblasts regulates bone remodeling during exercise. REFERENCE 2 (residues 1 to 165) AUTHORS Zhu Y, Wang L, Liu R, Ding X, Yin S, Chen Y, Zhu C, Wang Z and Li W. TITLE Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways JOURNAL FEBS Open Bio 13 (10), 1859-1873 (2023) PUBMED 37525933 REMARK GeneRIF: Inhibition of PRMT1 alleviates sepsis-induced acute kidney injury in mice by blocking the TGF-beta1 and IL-6 trans-signaling pathways. REFERENCE 3 (residues 1 to 165) AUTHORS Okamura K, Lu S, He Z, Altmann C, Montford JR, Li AS, Lucia MS, Orlicky DJ, Weiser-Evans M and Faubel S. TITLE IL-6 mediates the hepatic acute phase response after prerenal azotemia in a clinically defined murine model JOURNAL Am J Physiol Renal Physiol 325 (3), F328-F344 (2023) PUBMED 37471421 REMARK GeneRIF: IL-6 mediates the hepatic acute phase response after prerenal azotemia in a clinically defined murine model. REFERENCE 4 (residues 1 to 165) AUTHORS Millrine D, Cardus Figueras A, Uceda Fernandez J, Andrews R, Szomolay B, Cossins BC, Rice CM, Li J, Tyrrell VJ, McLeod L, Holmans P, O'Donnell VB, Taylor PR, Turner SJ, Jenkins BJ, Jones GW, Topley N, Williams NM and Jones SA. TITLE Th1 Cells Alter the Inflammatory Signature of IL-6 by Channeling STAT Transcription Factors to Alu-like Retroelements JOURNAL J Immunol 211 (2), 274-286 (2023) PUBMED 37272871 REMARK GeneRIF: Th1 Cells Alter the Inflammatory Signature of IL-6 by Channeling STAT Transcription Factors to Alu-like Retroelements. REFERENCE 5 (residues 1 to 165) AUTHORS Choi BR, Johnson KR, Maric D and McGavern DB. TITLE Monocyte-derived IL-6 programs microglia to rebuild damaged brain vasculature JOURNAL Nat Immunol 24 (7), 1110-1123 (2023) PUBMED 37248420 REMARK GeneRIF: Monocyte-derived IL-6 programs microglia to rebuild damaged brain vasculature. REFERENCE 6 (residues 1 to 165) AUTHORS Chin H, Mock B, Kim HL, Kim H and Kozak CA. TITLE The gene for the dihydropyridine-sensitive calcium channel alpha 2 subunit (CCHL2A) maps to the proximal region of mouse chromosome 5 JOURNAL Genomics 13 (4), 1325-1327 (1992) PUBMED 1324224 REFERENCE 7 (residues 1 to 165) AUTHORS Okada S, Nakauchi H, Nagayoshi K, Nakamura M, Miura Y and Suda T. TITLE Synergistic effect of IL-3 and IL-6 on highly enriched murine hemopoietic progenitors JOURNAL Exp Hematol 20 (5), 546-551 (1992) PUBMED 1350248 REFERENCE 8 (residues 1 to 165) AUTHORS Vandevoorde V, Haegeman G and Fiers W. TITLE TNF-mediated IL6 gene expression and cytotoxicity are co-inducible in TNF-resistant L929 cells JOURNAL FEBS Lett 302 (3), 235-238 (1992) PUBMED 1318227 REFERENCE 9 (residues 1 to 165) AUTHORS Fiorillo MT, Toniatti C, Van Snick J and Ciliberto G. TITLE Expression of the murine interleukin 6 receptor in hepatoma cells: the intracytoplasmic domain is not required for interleukin 6 signal transduction JOURNAL Eur J Immunol 22 (3), 799-804 (1992) PUBMED 1312474 REFERENCE 10 (residues 1 to 165) AUTHORS Bodine DM, Orlic D, Birkett NC, Seidel NE and Zsebo KM. TITLE Stem cell factor increases colony-forming unit-spleen number in vitro in synergy with interleukin-6, and in vivo in Sl/Sld mice as a single factor JOURNAL Blood 79 (4), 913-919 (1992) PUBMED 1371079 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC112933.16, BC145409.1 and AK150440.1. Summary: This gene encodes a member of the interleukin family of cytokines that have important functions in immune response, hematopoiesis, inflammation and the acute phase response. The ectopic overexpression of the encoded protein in mice results in excessive plasma cells in circulation, leading to death. Mice lacking the encoded protein exhibit abnormalities in hepatic acute phase response, some immune mechanisms, bone resorption in response to estrogen, liver regeneration and wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC145409.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04095721, SAMN04095722 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..165 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 15.7 cM" Protein 1..165 /product="interleukin-6 isoform 2 precursor" /note="interleukin HP-1; B-cell hybridoma growth factor" /calculated_mol_wt=16370 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2667 Region 27..>157 /region_name="IL6" /note="Interleukin-6/G-CSF/MGF family; cl02473" /db_xref="CDD:413331" CDS 1..165 /gene="Il6" /gene_synonym="Il-6" /coded_by="NM_001314054.1:79..576" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS84856.1" /db_xref="GeneID:16193" /db_xref="MGI:MGI:96559" ORIGIN 1 mkflsardfh pvaflglmlv tttafptsqv rrgdftedtt pnrpvyttsq vgglithvlw 61 eivemrkelc ngnsdcmnnd dalaennlkl peiqrndgcy qtgynqeicl lkissglley 121 hsyleymknn lkdnkkdkar vlqrdtetli hifnqeisws hrrsg // LOCUS NP_001005421 379 aa linear ROD 09-OCT-2023 DEFINITION junctional adhesion molecule-like precursor [Mus musculus]. ACCESSION NP_001005421 XP_194453 VERSION NP_001005421.3 DBSOURCE REFSEQ: accession NM_001005421.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 379) AUTHORS Mraz V, Lohmann RKD, Menzel M, Hawkes A, Vaher H, Funch AB, Jee MH, Gadsboll AO, Weber JF, Yeung K, Odum N, Woetmann A, McKay D, Witherden D, Geisler C and Bonefeld CM. TITLE The junctional adhesion molecule-like protein (JAML) is important for the inflammatory response during contact hypersensitivity JOURNAL Contact Dermatitis 89 (5), 323-334 (2023) PUBMED 37619972 REMARK GeneRIF: The junctional adhesion molecule-like protein (JAML) is important for the inflammatory response during contact hypersensitivity. REFERENCE 2 (residues 1 to 379) AUTHORS Huang W, Wang BO, Hou YF, Fu Y, Cui SJ, Zhu JH, Zhan XY, Li RK, Tang W, Wu JC, Wang ZY, Wang M, Wang XJ, Zhang Y, Liu M, Xie YS, Sun Y and Yi F. TITLE JAML promotes acute kidney injury mainly through a macrophage-dependent mechanism JOURNAL JCI Insight 7 (14), e158571 (2022) PUBMED 35708906 REMARK GeneRIF: JAML promotes acute kidney injury mainly through a macrophage-dependent mechanism. Publication Status: Online-Only REFERENCE 3 (residues 1 to 379) AUTHORS McGraw JM, Thelen F, Hampton EN, Bruno NE, Young TS, Havran WL and Witherden DA. TITLE JAML promotes CD8 and gammadelta T cell antitumor immunity and is a novel target for cancer immunotherapy JOURNAL J Exp Med 218 (10) (2021) PUBMED 34427588 REMARK GeneRIF: JAML promotes CD8 and gammadelta T cell antitumor immunity and is a novel target for cancer immunotherapy. REFERENCE 4 (residues 1 to 379) AUTHORS Fu Y, Sun Y, Wang M, Hou Y, Huang W, Zhou D, Wang Z, Yang S, Tang W, Zhen J, Li Y, Wang X, Liu M, Zhang Y, Wang B, Liu G, Yu X, Sun J, Zhang C and Yi F. TITLE Elevation of JAML Promotes Diabetic Kidney Disease by Modulating Podocyte Lipid Metabolism JOURNAL Cell Metab 32 (6), 1052-1062 (2020) PUBMED 33186558 REMARK GeneRIF: Elevation of JAML Promotes Diabetic Kidney Disease by Modulating Podocyte Lipid Metabolism. REFERENCE 5 (residues 1 to 379) AUTHORS Sun Y, Guan J, Hou Y, Xue F, Huang W, Zhang W, Zhang Y, Zhang C and Yang J. TITLE Silencing of junctional adhesion molecule-like protein attenuates atherogenesis and enhances plaque stability in ApoE-/- mice JOURNAL Clin Sci (Lond) 133 (11), 1215-1228 (2019) PUBMED 31101724 REMARK GeneRIF: silencing attenuates atherogenesis and enhances plaque stability in ApoE(-/-) mice Publication Status: Online-Only REFERENCE 6 (residues 1 to 379) AUTHORS Verdino P, Witherden DA, Ferguson MS, Corper AL, Schiefner A, Havran WL and Wilson IA. TITLE Molecular insights into gammadelta T cell costimulation by an anti-JAML antibody JOURNAL Structure 19 (1), 80-89 (2011) PUBMED 21220118 REMARK GeneRIF: crystal structure of the JAML-HL4E10 Fab complex REFERENCE 7 (residues 1 to 379) AUTHORS Verdino P, Witherden DA, Havran WL and Wilson IA. TITLE The molecular interaction of CAR and JAML recruits the central cell signal transducer PI3K JOURNAL Science 329 (5996), 1210-1214 (2010) PUBMED 20813955 REMARK GeneRIF: crystal structure of junctional adhesion molecule-like protein (JAML) and coxsackie and adenovirus receptor; data show how CAR-mediated clustering of JAML recruits phosphoinositide 3-kinase to a JAML intracellular sequence motif REFERENCE 8 (residues 1 to 379) AUTHORS Witherden DA, Verdino P, Rieder SE, Garijo O, Mills RE, Teyton L, Fischer WH, Wilson IA and Havran WL. TITLE The junctional adhesion molecule JAML is a costimulatory receptor for epithelial gammadelta T cell activation JOURNAL Science 329 (5996), 1205-1210 (2010) PUBMED 20813954 REMARK GeneRIF: identified an epithelial gammadelta T cell costimulatory molecule, junctional adhesion molecule-like protein - JAML; binding of JAML to CAR provides costimulation leading to cell proliferation and cytokine and growth factor production REFERENCE 9 (residues 1 to 379) AUTHORS Tang T, Li L, Tang J, Li Y, Lin WY, Martin F, Grant D, Solloway M, Parker L, Ye W, Forrest W, Ghilardi N, Oravecz T, Platt KA, Rice DS, Hansen GM, Abuin A, Eberhart DE, Godowski P, Holt KH, Peterson A, Zambrowicz BP and de Sauvage FJ. TITLE A mouse knockout library for secreted and transmembrane proteins JOURNAL Nat Biotechnol 28 (7), 749-755 (2010) PUBMED 20562862 REFERENCE 10 (residues 1 to 379) AUTHORS Mirza M, Petersen C, Nordqvist K and Sollerbrant K. TITLE Coxsackievirus and adenovirus receptor is up-regulated in migratory germ cells during passage of the blood-testis barrier JOURNAL Endocrinology 148 (11), 5459-5469 (2007) PUBMED 17690169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122305.4, CJ139627.1, CJ141417.1, AA798428.1, AA120429.1, CJ231590.1 and BX520654.1. On Nov 15, 2007 this sequence version replaced NP_001005421.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY093688.1, ERR3363658.1144488.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..379 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="9" /map="9 24.84 cM" Protein 1..379 /product="junctional adhesion molecule-like precursor" /note="dendritic-cell specific protein Crea7; mCrea7; dendritic cell-specific protein CREA7; adhesion molecule AMICA; adhesion molecule, interacts with CXADR antigen 1" /calculated_mol_wt=40385 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2166 Region 33..139 /region_name="V-set" /note="Immunoglobulin V-set domain; pfam07686" /db_xref="CDD:429596" Region 58..61 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409353" Site 79 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:20813955; propagated from UniProtKB/Swiss-Prot (Q80UL9.2)" Site 89 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:20813955; propagated from UniProtKB/Swiss-Prot (Q80UL9.2)" Region 102..106 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409353" Region 116..121 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409353" Site 125 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:20813955; propagated from UniProtKB/Swiss-Prot (Q80UL9.2)" Region 141..254 /region_name="V-set" /note="Immunoglobulin V-set domain; pfam07686" /db_xref="CDD:429596" Region 154..158 /region_name="Ig strand B" /note="Ig strand B [structural motif]" /db_xref="CDD:409353" Region 170..174 /region_name="Ig strand C" /note="Ig strand C [structural motif]" /db_xref="CDD:409353" Region 219..223 /region_name="Ig strand E" /note="Ig strand E [structural motif]" /db_xref="CDD:409353" Region 233..238 /region_name="Ig strand F" /note="Ig strand F [structural motif]" /db_xref="CDD:409353" Site 282..302 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q80UL9.2)" Site 355 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot (Q80UL9.2)" CDS 1..379 /gene="Jaml" /gene_synonym="AMICA; Amica1; Crea7; Gm638" /coded_by="NM_001005421.4:232..1371" /db_xref="CCDS:CCDS23128.1" /db_xref="GeneID:270152" /db_xref="MGI:MGI:2685484" ORIGIN 1 mlcllklivi pvilapvgyp qglpgltvss pqlrvhvges vlmgcvvqrt eekhvdrvdw 61 lfskdkddas eyvlfyysnl svptgrfqnr shlvgdtfhn dgslllqdvq kadegiytce 121 irlknesmvm kkpvelwvlp eepkdlrvrv gdttqmrcsi qsteekrvtk vnwmfssgsh 181 teeetvlsyd snmrsgkfqs lgrfrnrvdl tgdisrndgs iklqtvkesd qgiytcsiyv 241 gklesrktiv lhvvqdefqr tisptpptdk gqqgilngnq lviivgivca tflllpvlil 301 ivkkakwnks svssmasvks lenkekinpe khiyssittw ettergisge segtymtmnp 361 vwpsspkass lvrssvrsk // LOCUS NP_001132991 187 aa linear ROD 09-OCT-2023 DEFINITION Z-DNA-binding protein 1 isoform 2 [Mus musculus]. ACCESSION NP_001132991 VERSION NP_001132991.1 DBSOURCE REFSEQ: accession NM_001139519.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 187) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 2 (residues 1 to 187) AUTHORS Lei Y, VanPortfliet JJ, Chen YF, Bryant JD, Li Y, Fails D, Torres-Odio S, Ragan KB, Deng J, Mohan A, Wang B, Brahms ON, Yates SD, Spencer M, Tong CW, Bosenberg MW, West LC, Shadel GS, Shutt TE, Upton JW, Li P and West AP. TITLE Cooperative sensing of mitochondrial DNA by ZBP1 and cGAS promotes cardiotoxicity JOURNAL Cell 186 (14), 3013-3032 (2023) PUBMED 37352855 REMARK GeneRIF: Cooperative sensing of mitochondrial DNA by ZBP1 and cGAS promotes cardiotoxicity. REFERENCE 3 (residues 1 to 187) AUTHORS Cheng P, Jian Q, Fu Z, Deng R and Ma Y. TITLE Inhibition of DAI refrains dendritic cells from maturation and prolongs murine islet and skin allograft survival JOURNAL Front Immunol 14, 1182851 (2023) PUBMED 37197662 REMARK GeneRIF: Inhibition of DAI refrains dendritic cells from maturation and prolongs murine islet and skin allograft survival. Publication Status: Online-Only REFERENCE 4 (residues 1 to 187) AUTHORS Enzan N, Matsushima S, Ikeda S, Okabe K, Ishikita A, Yamamoto T, Sada M, Miyake R, Tsutsui Y, Nishimura R, Toyohara T, Ikeda Y, Shojima Y, Miyamoto HD, Tadokoro T, Ikeda M, Abe K, Ide T, Kinugawa S and Tsutsui H. TITLE ZBP1 Protects Against mtDNA-Induced Myocardial Inflammation in Failing Hearts JOURNAL Circ Res 132 (9), 1110-1126 (2023) PUBMED 36974722 REMARK GeneRIF: ZBP1 Protects Against mtDNA-Induced Myocardial Inflammation in Failing Hearts. REFERENCE 5 (residues 1 to 187) AUTHORS Li S, Zhang Y, Guan Z, Ye M, Li H, You M, Zhou Z, Zhang C, Zhang F, Lu B, Zhou P and Peng K. TITLE SARS-CoV-2 Z-RNA activates the ZBP1-RIPK3 pathway to promote virus-induced inflammatory responses JOURNAL Cell Res 33 (3), 201-214 (2023) PUBMED 36650286 REMARK GeneRIF: SARS-CoV-2 Z-RNA activates the ZBP1-RIPK3 pathway to promote virus-induced inflammatory responses. REFERENCE 6 (residues 1 to 187) AUTHORS Wang Z, Choi MK, Ban T, Yanai H, Negishi H, Lu Y, Tamura T, Takaoka A, Nishikura K and Taniguchi T. TITLE Regulation of innate immune responses by DAI (DLM-1/ZBP1) and other DNA-sensing molecules JOURNAL Proc Natl Acad Sci U S A 105 (14), 5477-5482 (2008) PUBMED 18375758 REMARK GeneRIF: mechanism of DAI activation and the complex regulatory mechanisms underlying DNA-mediated protective and pathologic immune responses. REFERENCE 7 (residues 1 to 187) AUTHORS Ishii KJ, Kawagoe T, Koyama S, Matsui K, Kumar H, Kawai T, Uematsu S, Takeuchi O, Takeshita F, Coban C and Akira S. TITLE TANK-binding kinase-1 delineates innate and adaptive immune responses to DNA vaccines JOURNAL Nature 451 (7179), 725-729 (2008) PUBMED 18256672 REFERENCE 8 (residues 1 to 187) AUTHORS Takaoka A, Wang Z, Choi MK, Yanai H, Negishi H, Ban T, Lu Y, Miyagishi M, Kodama T, Honda K, Ohba Y and Taniguchi T. TITLE DAI (DLM-1/ZBP1) is a cytosolic DNA sensor and an activator of innate immune response JOURNAL Nature 448 (7152), 501-505 (2007) PUBMED 17618271 REMARK GeneRIF: observations underscore an integral role of DAI (DLM-1/ZBP1) in the DNA-mediated activation of innate immune responses REFERENCE 9 (residues 1 to 187) AUTHORS Schwartz T, Behlke J, Lowenhaupt K, Heinemann U and Rich A. TITLE Structure of the DLM-1-Z-DNA complex reveals a conserved family of Z-DNA-binding proteins JOURNAL Nat Struct Biol 8 (9), 761-765 (2001) PUBMED 11524677 REMARK GeneRIF: shares common structure-specific recognition core within the binding domain with an RNA editing enzyme but binds Z-DNA REFERENCE 10 (residues 1 to 187) AUTHORS Fu Y, Comella N, Tognazzi K, Brown LF, Dvorak HF and Kocher O. TITLE Cloning of DLM-1, a novel gene that is up-regulated in activated macrophages, using RNA differential display JOURNAL Gene 240 (1), 157-163 (1999) PUBMED 10564822 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY170802.1 and AK008179.1. Transcript Variant: This variant (2) differs in the 3' UTR and has multiple differences in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK008179.1, BI685388.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..187 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 95.83 cM" Protein 1..187 /product="Z-DNA-binding protein 1 isoform 2" /note="tumor stroma and activated macrophage protein DLM-1; DNA-dependent activator of IFN-regulatory factors" /calculated_mol_wt=20437 Region 8..72 /region_name="z-alpha" /note="Adenosine deaminase z-alpha domain; cl02659" /db_xref="CDD:295419" Region 60..86 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9QY24.1)" Region 84..147 /region_name="z-alpha" /note="Adenosine deaminase z-alpha domain; cl02659" /db_xref="CDD:295419" CDS 1..187 /gene="Zbp1" /gene_synonym="2010010H03Rik; Dai; Dlm1; mZaDLM" /coded_by="NM_001139519.1:148..711" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS50813.1" /db_xref="GeneID:58203" /db_xref="MGI:MGI:1927449" ORIGIN 1 maeapvdlst gdnleqkilq vlsddggpvk igqlvkkcqv pkktlnqvly rlkkedrvss 61 pepatwsigg aasgdgapai penssaqpsl derilrflea ngphralhia kalgmttake 121 vnpllysmrn khllsydgqt wkiyhsrqeg qdivlpcspg cprthhvdqa glepteifll 181 lpikfwd // LOCUS NP_001396719 836 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 2 [Mus musculus]. ACCESSION NP_001396719 XP_036021707 VERSION NP_001396719.1 DBSOURCE REFSEQ: accession NM_001409790.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 836) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 836) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 836) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 836) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 836) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 836) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 836) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 836) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 836) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 836) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138622.4 and AC143330.4. On Jul 22, 2022 this sequence version replaced XP_036021707.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR9219382.236090.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..836 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..836 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 2" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=95656 Region 286..>808 /region_name="PLN03142" /note="Probable chromatin-remodeling complex ATPase chain; Provisional" /db_xref="CDD:215601" Region 307..489 /region_name="DEXHc_SMARCAD1" /note="DEXH-box helicase domain of SMARCAD1; cd17998" /db_xref="CDD:350756" Site order(334..340,373,438..439) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350756" CDS 1..836 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001409790.1:818..3328" /note="isoform 2 is encoded by transcript variant 6" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mdgaiaaall mfgdagggpr krklssssee ddvnddqsvk qprgdrgees nesaeassnw 61 ekqesivlkl qkefpnfdkq elrevlkehe wmytealesl kvfaedqdvq casqsevtng 121 kevarnqnys knatkikmkq kisvkpqngf nkkrkknvfn pkkavedsey dsgsdagssl 181 dedyssceev medgykgkil hflqvssiae ltlipkcsqk kaqkitelrp fnnwealftk 241 mskinglsed liwncktviq erdvvirlmn kcedisnklt kqvtmltgng ggwnreqpsl 301 lnqslslkpy qkvglnwlal vhkhglngil ademglgkti qaiaflaylf qegnkgphli 361 vvpastidnw lrevnlwcps lnvlcyygsq eerkqirfni hnkyedynvi vttyncaiss 421 sddrslfrrl klnyaifdeg hmlknmgsir yqhlmtinar nrllltgtpv qnnllelmsl 481 lnfvmphmfs sstseirrmf ssktkpadeq siyekeriah akqiikpfil rrvkeevlkl 541 lppkkdriel camsekqeql ysglfnrlkk sinnleknte mcnvmmqlrk manhpllhrq 601 yytpeklkem sqlmlkepth ceanpdlife dmevmtdfel hvlckqyqhi nsyqldmdli 661 ldsgkfralg cilselkqkg drvvlfsqft mmldilevll khhqhrylrl dgktqiseri 721 hlidefntdm difvfllstk agglginlts anvvilhdid cnpyndkqae drchrvgqtk 781 evlviklisq gtieesmlki nqqklkleqd mttvdeadeg smpadiatll ktsmgl // LOCUS NP_001351564 482 aa linear ROD 09-OCT-2023 DEFINITION RNA-binding protein Nova-1 isoform 3 [Mus musculus]. ACCESSION NP_001351564 VERSION NP_001351564.1 DBSOURCE REFSEQ: accession NM_001364635.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 482) AUTHORS Tajima Y, Ito K, Yuan Y, Frank MO, Saito Y and Darnell RB. TITLE NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons JOURNAL Cell Rep 42 (2), 112050 (2023) PUBMED 36716149 REMARK GeneRIF: NOVA1 acts on Impact to regulate hypothalamic function and translation in inhibitory neurons. REFERENCE 2 (residues 1 to 482) AUTHORS Brahma MK, Xiao P, Popa M, Negueruela J, Vandenbempt V, Demine S, Cardozo AK and Gurzov EN. TITLE Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice JOURNAL Nutrients 14 (18), 3866 (2022) PUBMED 36145242 REMARK GeneRIF: Nova1 or Bim Deficiency in Pancreatic beta-Cells Does Not Alter Multiple Low-Dose Streptozotocin-Induced Diabetes and Diet-Induced Obesity in Mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 482) AUTHORS Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW and Winner B. TITLE Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis JOURNAL Acta Neuropathol 144 (3), 413-435 (2022) PUBMED 35778567 REMARK GeneRIF: Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. REFERENCE 4 (residues 1 to 482) AUTHORS Li D, Shen M, Deng X and Bai Y. TITLE MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1 JOURNAL Bioengineered 13 (4), 8982-8993 (2022) PUBMED 35348441 REMARK GeneRIF: MicroRNA miR-27a-3p accelerates cardiac hypertrophy by targeting neuro-oncological ventral antigen 1. REFERENCE 5 (residues 1 to 482) AUTHORS Johnson V, Junge HJ and Chen Z. TITLE Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2 JOURNAL Elife 8, e46042 (2019) PUBMED 31392959 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 482) AUTHORS Jensen KB, Dredge BK, Stefani G, Zhong R, Buckanovich RJ, Okano HJ, Yang YY and Darnell RB. TITLE Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability JOURNAL Neuron 25 (2), 359-371 (2000) PUBMED 10719891 REFERENCE 7 (residues 1 to 482) AUTHORS Yang YY, Yin GL and Darnell RB. TITLE The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia JOURNAL Proc Natl Acad Sci U S A 95 (22), 13254-13259 (1998) PUBMED 9789075 REFERENCE 8 (residues 1 to 482) AUTHORS Fletcher CF, Okano HJ, Gilbert DJ, Yang Y, Yang C, Copeland NG, Jenkins NA and Darnell RB. TITLE Mouse chromosomal locations of nine genes encoding homologs of human paraneoplastic neurologic disorder antigens JOURNAL Genomics 45 (2), 313-319 (1997) PUBMED 9344654 REFERENCE 9 (residues 1 to 482) AUTHORS Buckanovich RJ and Darnell RB. TITLE The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo JOURNAL Mol Cell Biol 17 (6), 3194-3201 (1997) PUBMED 9154818 REFERENCE 10 (residues 1 to 482) AUTHORS Buckanovich RJ, Yang YY and Darnell RB. TITLE The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies JOURNAL J Neurosci 16 (3), 1114-1122 (1996) PUBMED 8558240 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC156636.2, AC108802.15 and CT009504.11. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660811.108273.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..482 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="12" /map="12 21.46 cM" Protein 1..482 /product="RNA-binding protein Nova-1 isoform 3" /note="RNA-binding protein Nova-1; ventral neuron-specific protein 1; neuro-oncological ventral antigen 1" /calculated_mol_wt=49021 Region 48..120 /region_name="KH-I_NOVA_rpt1" /note="first type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22435" /db_xref="CDD:411863" Site order(60..62,64..68,71..72,82..84,86..88,97) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411863" Region 147..216 /region_name="KH-I_NOVA_rpt2" /note="second type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd22436" /db_xref="CDD:411864" Site order(158..160,162..166,169..170,180..182,184..186,194) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:411864" Region 397..467 /region_name="KH-I_NOVA_rpt3" /note="third type I K homology (KH) RNA-binding domain found in the family of neuro-oncological ventral antigen (Nova); cd09031" /db_xref="CDD:411807" Site order(405..406,408..410,412..416,419..420,430..436,438, 443,445) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:411807" CDS 1..482 /gene="Nova1" /gene_synonym="9430099M15Rik; G630039L02; Nova-1" /coded_by="NM_001364635.1:17..1465" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:664883" /db_xref="MGI:MGI:104297" ORIGIN 1 mmaaapiqqn gthtgvpidl dppdsrkrpl eappeagstk rtntgdgqyf lkvlipsyaa 61 gsiigkggqt ivqlqketga tiklskskdf ypgttervcl iqgtiealna vhgfiaekir 121 empqnvakte pvsilqpqtt vnpdrikqvk iivpnstagl iigkggatvk aimeqsgawv 181 qlsqkpdgin lqervvtvsg epeqnrkave liiqkiqedp qsgsclnisy anvtgpvans 241 nptgspyant aevlptaaaa agllghanla gvaafpavls gftgndlvai tsalntlasy 301 gynlntlglg lsqaaatgal aaaaasanpa aaaanllaty aseasasgst aggtagtfal 361 gslaaataat ngyfgaaspl aasailgtek stdgskdvve iavpenlvga ilgkggktlv 421 eyqeltgari qiskkgefvp gtrnrkvtit gtpaatqaaq ylitqritye qgvraanpqk 481 vg // LOCUS NP_001349245 485 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 36 [Mus musculus]. ACCESSION NP_001349245 VERSION NP_001349245.1 DBSOURCE REFSEQ: accession NM_001362316.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 485) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 485) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 485) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 485) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 485) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 485) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 485) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 485) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 485) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 485) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7345562.2518784.1, SRR1660813.254341.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..485 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..485 /product="CUGBP Elav-like family member 4 isoform 36" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=51688 Region 18..39 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 121..149 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 151..231 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(153,155,157..158,161,180,182,184,192..194,196,226, 228) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 239..258 /region_name="Necessary for TNNT2 exon 5 inclusion. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q7TSY6.2)" Region 416..474 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..485 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362316.1:531..1988" /note="isoform 36 is encoded by transcript variant 40" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee 181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr 241 mqqmagqmgm fnpmaipfga ygayaqamqq qaalmasvaq ggylnpmaaf aaaqmqqmaa 301 lnmnglaaap mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang 361 ihpypaqspt aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc 421 nlliyhlpqe fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd 481 anrpy // LOCUS NP_001349255 475 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 44 [Mus musculus]. ACCESSION NP_001349255 XP_017173284 VERSION NP_001349255.1 DBSOURCE REFSEQ: accession NM_001362326.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 475) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 475) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 475) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 475) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 475) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 475) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 475) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 475) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 475) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 475) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173284.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.178245.1, SRR1660813.62939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..475 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..475 /product="CUGBP Elav-like family member 4 isoform 44" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=50660 Region 49..135 /region_name="RRM1_CELF3_4_5_6" /note="RNA recognition motif 1 (RRM1) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12632" /db_xref="CDD:410041" Site order(55,57,59..60,63,82,84,86,95..97,99,129,131) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410041" Region 140..220 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(142,144,146..147,150,169,171,173,181..183,185,215, 217) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region 406..464 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..475 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362326.1:531..1958" /note="isoform 44 is encoded by transcript variant 46" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq 61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt 121 lpgmnrpiqv kpadsesrgd rklfvgmlnk qqseddvrrl feafgnieec tilrgpdgns 181 kgcafvkyss haeaqaaina lhgsqtmpga ssslvvkfad tdkertmrrm qqmagqmgmf 241 npmaipfgay gayaqalmqq qaalmasvaq ggylnpmaaf aaaqmqqmaa lnmnglaaap 301 mtptsggstp pgitapavps ipspigvngf tglppqangq paaeavfang ihpypaqspt 361 aadplqqaya gvqqyagpaa ypaaygqisq afpqpppmip qqqregpegc nlliyhlpqe 421 fgdaelmqmf lpfgfvsfdn pasaqtaiqa mngfqigmkr lkvqlkrpkd anrpy // LOCUS NP_001154885 565 aa linear ROD 09-OCT-2023 DEFINITION amino acid transporter heavy chain SLC3A2 isoform a [Mus musculus]. ACCESSION NP_001154885 VERSION NP_001154885.1 DBSOURCE REFSEQ: accession NM_001161413.2 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 565) AUTHORS Xiang P, Chen Q, Chen L, Lei J, Yuan Z, Hu H, Lu Y, Wang X, Wang T, Yu R, Zhang W, Zhang J, Yu C and Ma L. TITLE Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE-/-mice JOURNAL Theranostics 13 (14), 4993-5016 (2023) PUBMED 37771765 REMARK GeneRIF: Metabolite Neu5Ac triggers SLC3A2 degradation promoting vascular endothelial ferroptosis and aggravates atherosclerosis progression in ApoE[-/-]mice. Publication Status: Online-Only REFERENCE 2 (residues 1 to 565) AUTHORS Puris E, Saveleva L, de Sousa Maciel I, Kanninen KM, Auriola S and Fricker G. TITLE Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease JOURNAL Mol Neurobiol 60 (2), 732-748 (2023) PUBMED 36367657 REMARK GeneRIF: Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease. REFERENCE 3 (residues 1 to 565) AUTHORS Eom J, Choi J, Suh SS and Seo JB. TITLE SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation JOURNAL Mol Cells 45 (12), 963-975 (2022) PUBMED 36572564 REMARK GeneRIF: SLC3A2 and SLC7A2 Mediate the Exogenous Putrescine-Induced Adipocyte Differentiation. REFERENCE 4 (residues 1 to 565) AUTHORS Chen Q, Liu L and Ni S. TITLE Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation JOURNAL PeerJ 10, e13757 (2022) PUBMED 35923893 REMARK GeneRIF: Screening of ferroptosis-related genes in sepsis-induced liver failure and analysis of immune correlation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 565) AUTHORS Salazar-Petres E, Pereira-Carvalho D, Lopez-Tello J and Sferruzzi-Perri AN. TITLE Placental structure, function, and mitochondrial phenotype relate to fetal size in each fetal sex in micedagger JOURNAL Biol Reprod 106 (6), 1292-1311 (2022) PUBMED 35293971 REFERENCE 6 (residues 1 to 565) AUTHORS Rochelle JM, Watson ML, Oakey RJ and Seldin MF. TITLE A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus JOURNAL Genomics 14 (1), 26-31 (1992) PUBMED 1358795 REFERENCE 7 (residues 1 to 565) AUTHORS Fowler KJ, Clouston WM, Fournier RE and Evans BA. TITLE The relaxin gene is located on chromosome 19 in the mouse JOURNAL FEBS Lett 292 (1-2), 183-186 (1991) PUBMED 1959604 REFERENCE 8 (residues 1 to 565) AUTHORS Horlick KR, Cheng IC, Wong WT, Wakeland EK and Nick HS. TITLE Mouse lipocortin I gene structure and chromosomal assignment: gene duplication and the origins of a gene family JOURNAL Genomics 10 (2), 365-374 (1991) PUBMED 1676980 REFERENCE 9 (residues 1 to 565) AUTHORS Chainani M, Sampsell B and Elliott RW. TITLE Localization of the gene for plasma retinol binding protein to the distal half of mouse chromosome 19 JOURNAL Genomics 9 (2), 376-379 (1991) PUBMED 2004789 REFERENCE 10 (residues 1 to 565) AUTHORS Levanon D, Hsieh CL, Francke U, Dawson PA, Ridgway ND, Brown MS and Goldstein JL. TITLE cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19 JOURNAL Genomics 7 (1), 65-74 (1990) PUBMED 1970801 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC025794.9. Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK161280.1, SRR13948564.4926512.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..565 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="19" /map="19 5.44 cM" Protein 1..565 /product="amino acid transporter heavy chain SLC3A2 isoform a" /note="antigen identified by monoclonal antibodies 4F2; 4F2 cell-surface antigen heavy chain; CD98 heavy chain; type II transmembrane protein; CD98 antigen; solute carrier family 3 member 2; amino acid transporter heavy chain SLC3A2" /calculated_mol_wt=62109 Region 79..157 /region_name="SLC3A2_N" /note="Solute carrier family 3 member 2 N-terminus; pfam16028" /db_xref="CDD:435083" Region 139..468 /region_name="AmyAc_family" /note="Alpha amylase catalytic domain family; cl38930" /db_xref="CDD:453893" Site order(244,279,281,312,371..372) /site_type="active" /db_xref="CDD:200451" Site order(281,312,372) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:200451" CDS 1..565 /gene="Slc3a2" /gene_synonym="4F2; 4F2HC; Cd98; Ly-10; Ly-m10; Ly10; Mdu1; Mgp-2hc; NACAE" /coded_by="NM_001161413.2:275..1972" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS50381.1" /db_xref="GeneID:17254" /db_xref="MGI:MGI:96955" ORIGIN 1 mdpeptehst dgvsvprqpp saqtgldvqv vsaagdsgtm sqdtevdmkd velnelepek 61 qpmnaadgaa ageknglvki kvaedeteag vkftglskee llkvagspgw vrtrwallll 121 fwlgwlgmla gavviivrap rcrelpvqrw whkgalyrig dlqafvgrda ggiaglkshl 181 eylstlkvkg lvlgpihknq kdeinetdlk qinptlgsqe dfkdllqsak kksihiildl 241 tpnyqgqnaw flpaqadiva tkmkealssw lqdgvdgfqf rdvgklmnap lylaewqnit 301 knlsedrlli agtessdlqq ivnilestsd llltssylsn stftgertes lvtrflnatg 361 sqwcswsvsq aglladfipd hllrlyqlll ftlpgtpvfs ygdelglqga lpgqpakapl 421 mpwnessifh iprpvslnmt vkgqnedpgs lltqfrrlsd lrgkersllh gdfhalsssp 481 dlfsyirhwd qnerylvvln frdsgrsarl gasnlpagis lpasakllls tdsarqsree 541 dtslklenls lnpyeglllq fpfva // LOCUS NP_034407 430 aa linear ROD 09-OCT-2023 DEFINITION glial fibrillary acidic protein isoform 2 [Mus musculus]. ACCESSION NP_034407 VERSION NP_034407.2 DBSOURCE REFSEQ: accession NM_010277.3 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 430) AUTHORS Yammine SZ, Burns I, Gosio J, Peluso A, Merritt DM, Innes B, Coles BLK, Yan WR, Bader GD, Morshead CM and van der Kooy D. TITLE Fate Specification of GFAP-Negative Primitive Neural Stem Cells and Their Progeny at Clonal Resolution JOURNAL Stem Cells Dev 32 (19-20), 606-621 (2023) PUBMED 37551982 REMARK GeneRIF: Fate Specification of GFAP-Negative Primitive Neural Stem Cells and Their Progeny at Clonal Resolution. REFERENCE 2 (residues 1 to 430) AUTHORS Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC and Yalcin B. TITLE Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected JOURNAL Neurobiol Dis 185, 106259 (2023) PUBMED 37573958 REFERENCE 3 (residues 1 to 430) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 430) AUTHORS Hu M, Bodnar B, Zhang Y, Xie F, Li F, Li S, Zhao J, Zhao R, Gedupoori N, Mo Y, Lin L, Li X, Meng W, Yang X, Wang H, Barbe MF, Srinivasan S, Bethea JR, Mo X, Xu H and Hu W. TITLE Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice JOURNAL Int J Biol Sci 19 (10), 3226-3248 (2023) PUBMED 37416774 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 430) AUTHORS Li J, Jiang H, Mu Y, Wei Z, Ma A, Sun M, Zhao J, Zhu C and Chen X. TITLE SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex JOURNAL iScience 26 (7), 107042 (2023) PUBMED 37360696 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 430) AUTHORS Miragall F, Hwang TK, Traub O, Hertzberg EL and Dermietzel R. TITLE Expression of connexins in the developing olfactory system of the mouse JOURNAL J Comp Neurol 325 (3), 359-378 (1992) PUBMED 1332989 REFERENCE 7 (residues 1 to 430) AUTHORS Nonaka M, Matsuda Y, Shiroishi T, Moriwaki K, Nonaka M and Natsuume-Sakai S. TITLE Molecular cloning of mouse beta 2-glycoprotein I and mapping of the gene to chromosome 11 JOURNAL Genomics 13 (4), 1082-1087 (1992) PUBMED 1339387 REFERENCE 8 (residues 1 to 430) AUTHORS Dietrich W, Katz H, Lincoln SE, Shin HS, Friedman J, Dracopoli NC and Lander ES. TITLE A genetic map of the mouse suitable for typing intraspecific crosses JOURNAL Genetics 131 (2), 423-447 (1992) PUBMED 1353738 REFERENCE 9 (residues 1 to 430) AUTHORS Karolyi IJ, Guenet JL, Rey-Campos J and Camper SA. TITLE The gene coding for variant hepatic nuclear factor 1 (Tcf-2), maps between the Edp-1 and Erba genes on mouse chromosome 11 JOURNAL Mamm Genome 3 (3), 184-185 (1992) PUBMED 1352161 REFERENCE 10 (residues 1 to 430) AUTHORS Dyson PJ, de Smet C, Knight AM, Simon-Chazottes D, Guenet JL and Boon T. TITLE Mapping of the genes encoding tum- transplantation antigens P91A, P35B, and P198 JOURNAL Immunogenetics 35 (5), 316-323 (1992) PUBMED 1348494 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC139357.1, AK079577.1, CX223233.1, BE651678.1 and AI835063.1. On Dec 24, 2005 this sequence version replaced NP_034407.1. Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1, which results in a protein (isoform 2) with a shorter and distinct C-terminus when compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC139357.1, AK079577.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..430 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="11" /map="11 66.48 cM" Protein 1..430 /product="glial fibrillary acidic protein isoform 2" /note="intermediate filament protein" /calculated_mol_wt=49769 Region 1..69 /region_name="Head" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 4..63 /region_name="Filament_head" /note="Intermediate filament head (DNA binding) region; pfam04732" /db_xref="CDD:428095" Site 7 /site_type="phosphorylation" /note="Phosphothreonine, by AURKB and ROCK1. /evidence=ECO:0000250|UniProtKB:P14136; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 11 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0007744|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 12 /site_type="phosphorylation" /note="Phosphoserine, by AURKB and ROCK1. /evidence=ECO:0000250|UniProtKB:P14136; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 20 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0007744|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 35 /site_type="phosphorylation" /note="Phosphoserine, by AURKB and ROCK1. /evidence=ECO:0000250|UniProtKB:P14136; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 40 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0007744|PubMed:16452087; propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 65..373 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:425436" Region 70..101 /region_name="Coil 1A" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 79 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 102..112 /region_name="Linker 1" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 107 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 113..211 /region_name="Coil 1B" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 147 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 212..227 /region_name="Linker 12" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 228..249 /region_name="Coil 2A" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 250..253 /region_name="Linker 2" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 254..374 /region_name="Coil 2B" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 266 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 320 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Region 375..430 /region_name="Tail" /note="propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 380 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" Site 382 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P47819; propagated from UniProtKB/Swiss-Prot (P03995.4)" CDS 1..430 /gene="Gfap" /coded_by="NM_010277.3:84..1376" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS25507.1" /db_xref="GeneID:14580" /db_xref="MGI:MGI:95697" ORIGIN 1 merrritsar rsyasetvvr glgpsrqlgt mprfslsrmt pplparvdfs lagalnagfk 61 etraseraem melndrfasy iekvrfleqq nkalaaelnq lrakeptkla dvyqaelrel 121 rlrldqltan sarleverdn faqdlgtlrq klqdetnlrl eaennlaayr qeadeatlar 181 vdlerkvesl eeeiqflrki yeeevrelre qlaqqqvhve mdvakpdlta alreirtqye 241 avatsnmqet eewyrskfad ltdaasrnae llrqakhean dyrrqlqalt cdleslrgtn 301 eslerqmreq eerharesas yqealarlee egqslkeema rhlqeyqdll nvklaldiei 361 atyrkllege enritipvqt fsnlqirets ldtksvsegh lkrnivvktv emrdgevikd 421 skqehkdvvm // LOCUS NP_001240321 836 aa linear ROD 09-OCT-2023 DEFINITION SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 2 [Mus musculus]. ACCESSION NP_001240321 VERSION NP_001240321.1 DBSOURCE REFSEQ: accession NM_001253392.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 836) AUTHORS Sachs P, Bergmaier P, Treutwein K and Mermoud JE. TITLE The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse JOURNAL Genes (Basel) 14 (9), 1793 (2023) PUBMED 37761933 REMARK GeneRIF: The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only REFERENCE 2 (residues 1 to 836) AUTHORS Bedogni F and Hevner RF. TITLE Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development JOURNAL Front Mol Neurosci 14, 686034 (2021) PUBMED 34321999 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 836) AUTHORS Niu Q, Wang W, Wei Z, Byeon B, Das AB, Chen BS and Wu WH. TITLE Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing JOURNAL Biochem Biophys Res Commun 526 (2), 453-458 (2020) PUBMED 32234239 REMARK GeneRIF: Role of the ATP-dependent chromatin remodeling enzyme Fun30/Smarcad1 in the regulation of mRNA splicing. REFERENCE 4 (residues 1 to 836) AUTHORS Kazakevych J, Denizot J, Liebert A, Portovedo M, Mosavie M, Jain P, Stellato C, Fraser C, Correa RO, Celestine M, Mattiuz R, Okkenhaug H, Miller JR, Vinolo MAR, Veldhoen M and Varga-Weisz P. TITLE Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium JOURNAL Genome Biol 21 (1), 64 (2020) PUBMED 32160911 REMARK GeneRIF: Smarcad1 mediates microbiota-induced inflammation in mouse and coordinates gene expression in the intestinal epithelium. Publication Status: Online-Only REFERENCE 5 (residues 1 to 836) AUTHORS Sachs P, Ding D, Bergmaier P, Lamp B, Schlagheck C, Finkernagel F, Nist A, Stiewe T and Mermoud JE. TITLE SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells JOURNAL Nat Commun 10 (1), 1335 (2019) PUBMED 30902974 REMARK GeneRIF: These findings uncover a role for the enzymatic activity of SMARCAD1 in cooperating with KAP1 to silence Endogenous retroviruses. Publication Status: Online-Only REFERENCE 6 (residues 1 to 836) AUTHORS Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ and Zoghbi HY. TITLE Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis JOURNAL Hum Mol Genet 5 (9), 1207-1216 (1996) PUBMED 8872459 REFERENCE 7 (residues 1 to 836) AUTHORS Villeneuve L, Jiang X, Turmel C, Kozak CA and Jolicoeur P. TITLE Long-range mapping of Mis-2, a common provirus integration site identified in murine leukemia virus-induced thymomas and located 160 kilobase pairs downstream of Myb JOURNAL J Virol 67 (10), 5733-5739 (1993) PUBMED 8371338 REFERENCE 8 (residues 1 to 836) AUTHORS Schoor M, Schuster-Gossler K and Gossler A. TITLE The Etl-1 gene encodes a nuclear protein differentially expressed during early mouse development JOURNAL Dev Dyn 197 (3), 227-237 (1993) PUBMED 8219362 REFERENCE 9 (residues 1 to 836) AUTHORS Soininen R, Schoor M, Henseling U, Tepe C, Kisters-Woike B, Rossant J and Gossler A. TITLE The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes JOURNAL Mech Dev 39 (1-2), 111-123 (1992) PUBMED 1489724 REFERENCE 10 (residues 1 to 836) AUTHORS O'Kane CJ and Gehring WJ. TITLE Detection in situ of genomic regulatory elements in Drosophila JOURNAL Proc Natl Acad Sci U S A 84 (24), 9123-9127 (1987) PUBMED 2827169 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK147884.1, X69942.1 and AK122454.1. Transcript Variant: This variant (2) lacks an alternate exon which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1. Variants 2 and 6 both encode the same isoform (2). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042442.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164133, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..836 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 30.11 cM" Protein 1..836 /product="SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 2" /EC_number="3.6.4.12" /note="enhancer trap locus homolog 1; ATP-dependent helicase SMARCAD1; enhancer trap locus 1" /calculated_mol_wt=95656 Region 286..>808 /region_name="PLN03142" /note="Probable chromatin-remodeling complex ATPase chain; Provisional" /db_xref="CDD:215601" Region 307..489 /region_name="DEXHc_SMARCAD1" /note="DEXH-box helicase domain of SMARCAD1; cd17998" /db_xref="CDD:350756" Site order(334..340,373,438..439) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:350756" CDS 1..836 /gene="Smarcad1" /gene_synonym="D6Pas1; etl-1; Etl1; mKIAA1122" /coded_by="NM_001253392.1:440..2950" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:13990" /db_xref="MGI:MGI:95453" ORIGIN 1 mdgaiaaall mfgdagggpr krklssssee ddvnddqsvk qprgdrgees nesaeassnw 61 ekqesivlkl qkefpnfdkq elrevlkehe wmytealesl kvfaedqdvq casqsevtng 121 kevarnqnys knatkikmkq kisvkpqngf nkkrkknvfn pkkavedsey dsgsdagssl 181 dedyssceev medgykgkil hflqvssiae ltlipkcsqk kaqkitelrp fnnwealftk 241 mskinglsed liwncktviq erdvvirlmn kcedisnklt kqvtmltgng ggwnreqpsl 301 lnqslslkpy qkvglnwlal vhkhglngil ademglgkti qaiaflaylf qegnkgphli 361 vvpastidnw lrevnlwcps lnvlcyygsq eerkqirfni hnkyedynvi vttyncaiss 421 sddrslfrrl klnyaifdeg hmlknmgsir yqhlmtinar nrllltgtpv qnnllelmsl 481 lnfvmphmfs sstseirrmf ssktkpadeq siyekeriah akqiikpfil rrvkeevlkl 541 lppkkdriel camsekqeql ysglfnrlkk sinnleknte mcnvmmqlrk manhpllhrq 601 yytpeklkem sqlmlkepth ceanpdlife dmevmtdfel hvlckqyqhi nsyqldmdli 661 ldsgkfralg cilselkqkg drvvlfsqft mmldilevll khhqhrylrl dgktqiseri 721 hlidefntdm difvfllstk agglginlts anvvilhdid cnpyndkqae drchrvgqtk 781 evlviklisq gtieesmlki nqqklkleqd mttvdeadeg smpadiatll ktsmgl // LOCUS NP_034903 414 aa linear ROD 09-OCT-2023 DEFINITION methyl-CpG-binding domain protein 2 isoform 1 [Mus musculus]. ACCESSION NP_034903 XP_001000950 VERSION NP_034903.2 DBSOURCE REFSEQ: accession NM_010773.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 414) AUTHORS Duan W, Huang J, Wasti B, Chen Z, Yuan Y, He Y, Li D, Jia J, Liu S, Liu Y, Ma L, Zeng Q, Zhu L, Li J, Zhang X and Xiang X. TITLE miR-146a-3p as a potential novel therapeutic by targeting MBD2 to mediate Th17 differentiation in Th17 predominant neutrophilic severe asthma JOURNAL Clin Exp Med 23 (6), 2839-2854 (2023) PUBMED 36961677 REMARK GeneRIF: miR-146a-3p as a potential novel therapeutic by targeting MBD2 to mediate Th17 differentiation in Th17 predominant neutrophilic severe asthma. REFERENCE 2 (residues 1 to 414) AUTHORS Lax E, Do Carmo S, Enuka Y, Sapozhnikov DM, Welikovitch LA, Mahmood N, Rabbani SA, Wang L, Britt JP, Hancock WW, Yarden Y and Szyf M. TITLE Methyl-CpG binding domain 2 (Mbd2) is an epigenetic regulator of autism-risk genes and cognition JOURNAL Transl Psychiatry 13 (1), 259 (2023) PUBMED 37443311 REMARK GeneRIF: Methyl-CpG binding domain 2 (Mbd2) is an epigenetic regulator of autism-risk genes and cognition. Publication Status: Online-Only REFERENCE 3 (residues 1 to 414) AUTHORS Jiang Y, Li L, Pan Q, Du X, Han Q, Ling F, Li R, Mai L, Huang J, Chu S and Ma L. TITLE Methyl-cpg-binding Domain Protein 2 Silencing Inhibits Th17 Differentiation of CD4+T cells Induced by Ovalbumin JOURNAL Iran J Immunol 20 (1), 45-56 (2023) PUBMED 36932919 REMARK GeneRIF: Methyl-cpg-binding Domain Protein 2 Silencing Inhibits Th17 Differentiation of CD4+T cells Induced by Ovalbumin. REFERENCE 4 (residues 1 to 414) AUTHORS Wu GR, Zhou M, Wang Y, Zhou Q, Zhang L, He L, Zhang S, Yu Q, Xu Y, Zhao J, Xiong W and Wang CY. TITLE Blockade of Mbd2 by siRNA-loaded liposomes protects mice against OVA-induced allergic airway inflammation via repressing M2 macrophage production JOURNAL Front Immunol 13, 930103 (2022) PUBMED 36090987 REMARK GeneRIF: Blockade of Mbd2 by siRNA-loaded liposomes protects mice against OVA-induced allergic airway inflammation via repressing M2 macrophage production. Publication Status: Online-Only REFERENCE 5 (residues 1 to 414) AUTHORS Ai K, Pan J, Zhang P, Li H, He Z, Zhang H, Li X, Li Y, Yi L, Kang Y, Wang Y, Xiang X, Chai X and Zhang D. TITLE Methyl-CpG-binding domain protein 2 contributes to renal fibrosis through promoting polarized M1 macrophages JOURNAL Cell Death Dis 13 (2), 125 (2022) PUBMED 35136032 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 414) AUTHORS Klinowska TC, Alexander CM, Georges-Labouesse E, Van der Neut R, Kreidberg JA, Jones CJ, Sonnenberg A and Streuli CH. TITLE Epithelial development and differentiation in the mammary gland is not dependent on alpha 3 or alpha 6 integrin subunits JOURNAL Dev Biol 233 (2), 449-467 (2001) PUBMED 11336507 REFERENCE 7 (residues 1 to 414) AUTHORS Hendrich B, Guy J, Ramsahoye B, Wilson VA and Bird A. TITLE Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development JOURNAL Genes Dev 15 (6), 710-723 (2001) PUBMED 11274056 REFERENCE 8 (residues 1 to 414) AUTHORS Guy J, Hendrich B, Holmes M, Martin JE and Bird A. TITLE A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome JOURNAL Nat Genet 27 (3), 322-326 (2001) PUBMED 11242117 REFERENCE 9 (residues 1 to 414) AUTHORS Hendrich B, Abbott C, McQueen H, Chambers D, Cross S and Bird A. TITLE Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes JOURNAL Mamm Genome 10 (9), 906-912 (1999) PUBMED 10441743 REFERENCE 10 (residues 1 to 414) AUTHORS Hendrich B and Bird A. TITLE Identification and characterization of a family of mammalian methyl-CpG binding proteins JOURNAL Mol Cell Biol 18 (11), 6538-6547 (1998) PUBMED 9774669 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CX239662.1, AF072243.1, AK147008.1 and BU757659.1. On Dec 30, 2008 this sequence version replaced NP_034903.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC046607.1, AF072243.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..414 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 44.54 cM" Protein 1..414 /product="methyl-CpG-binding domain protein 2 isoform 1" /note="methyl-CpG-binding protein MBD2; testis-specific methyl-CpG binding protein 2" /calculated_mol_wt=43370 Region 1..163 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2E1.2)" Region 1..152 /region_name="Required for interaction with DHX9 and PRMT5. /evidence=ECO:0000250|UniProtKB:Q9UBB5" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2E1.2)" Region 154..217 /region_name="MeCP2_MBD" /note="MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding...; cd01396" /db_xref="CDD:238690" Site order(165,167,169,177,179,188,191,195) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238690" Site 184 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UBB5; propagated from UniProtKB/Swiss-Prot (Q9Z2E1.2)" Region 217..244 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9Z2E1.2)" Region 229..295 /region_name="MBDa" /note="p55-binding region of Methyl-CpG-binding domain proteins MBD; pfam16564" /db_xref="CDD:435433" Region 299..390 /region_name="MBD_C" /note="C-terminal domain of methyl-CpG binding protein 2 and 3; pfam14048" /db_xref="CDD:433673" Site 410 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9UBB5; propagated from UniProtKB/Swiss-Prot (Q9Z2E1.2)" CDS 1..414 /gene="Mbd2" /gene_synonym="MBD2a" /coded_by="NM_010773.2:126..1370" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS29335.1" /db_xref="GeneID:17191" /db_xref="MGI:MGI:1333813" ORIGIN 1 mrahpgggrc cpeqeegesa aggsgaggds aieqggqgsa lapspvsgvr regargggrg 61 rgrwkqaarg ggvcgrgrgr grgrgrgrgr grgrgrpqsg gsglggdggg gaggcgggsg 121 ggvaprrdpv pfpsgssgpg prgpratesg krmdcpalpp gwkkeevirk sglsagksdv 181 yyfspsgkkf rskpqlaryl gnavdlssfd frtgkmmpsk lqknkqrlrn dplnqnkgkp 241 dlnttlpirq tasifkqpvt kftnhpsnkv ksdpqrmneq prqlfwekrl qglsasdvte 301 qiiktmelpk glqgvgpgsn detllsavas alhtssapit gqvsaavekn pavwlntsqp 361 lckafivtde dirkqeervq qvrkkleeal madilsraad teevdidmds gdea // LOCUS NP_001394530 360 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 14 [Mus musculus]. ACCESSION NP_001394530 VERSION NP_001394530.1 DBSOURCE REFSEQ: accession NM_001407601.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 360) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 360) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 360) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 360) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 360) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 360) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 360) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 360) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 360) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 360) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC160244.11, AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784646.1044404.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..360 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..360 /product="mitogen-activated protein kinase 10 isoform 14" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=41177 Region 25..336 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(32..38,40,53,55,72,86,108..114,116..117,151,153, 155..156,158,168..169,172,183,185..188,190) /site_type="active" /db_xref="CDD:270840" Site order(32..38,40,53,55,86,108..114,158,168) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(72,116,151,153,172,183,185..188,190) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(112,118,127,130,159..163,299..300,302,305) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(168..178,182..190) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..360 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407601.1:658..1740" /note="isoform 14 is encoded by transcript variant 24" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mskskvdnqf ysvevgdstf tvlkryqnlk pigsgaqgiv caaydavldr nvaikklsrp 61 fqnqthakra yrelvlmkcv nhkniislln vftpqktlee fqdvylvmel mdanlcqviq 121 meldhermsy llyqmlcgik hlhsagiihr dlkpsnivvk sdctlkildf glartagtsf 181 mmtpyvvtry yrapevilgm gykendidqw nkvieqlgtp cpefmkklqp tvrnyvenrp 241 kyagltfpkl fpdslfpads ehnklkasqa rdllskmlvi dpakrisvdd alqhpyinvw 301 ydpaeveapp pqiydkqlde rehtieewke liykevmnse ektkngvvkg qpspsaqvqq // LOCUS NP_573474 1050 aa linear ROD 09-OCT-2023 DEFINITION toll-like receptor 7 isoform a precursor [Mus musculus]. ACCESSION NP_573474 XP_918297 VERSION NP_573474.1 DBSOURCE REFSEQ: accession NM_133211.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 1050) AUTHORS Huang Y, Liu D, Chen M, Xu S, Peng Q, Zhu Y, Long J, Liu T, Deng Z, Xie H, Li J, Liu F and Xiao W. TITLE TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea JOURNAL PeerJ 11, e15976 (2023) PUBMED 37780385 REMARK GeneRIF: TLR7 promotes skin inflammation via activating NFkappaB-mTORC1 axis in rosacea. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1050) AUTHORS Miles MA, Liong S, Liong F, Coward-Smith M, Trollope GS, Oseghale O, Erlich JR, Brooks RD, Logan JM, Hickey S, Wang H, Bozinovski S, O'Leary JJ, Brooks DA and Selemidis S. TITLE TLR7 promotes chronic airway disease in RSV-infected mice JOURNAL Front Immunol 14, 1240552 (2023) PUBMED 37795093 REMARK GeneRIF: TLR7 promotes chronic airway disease in RSV-infected mice. Publication Status: Online-Only REFERENCE 3 (residues 1 to 1050) AUTHORS Cosgrove HA, Gingras S, Kim M, Bastacky S, Tilstra JS and Shlomchik MJ. TITLE B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice JOURNAL JCI Insight 8 (16), e172219 (2023) PUBMED 37606042 REMARK GeneRIF: B cell-intrinsic TLR7 expression drives severe lupus in TLR9-deficient mice. Publication Status: Online-Only REFERENCE 4 (residues 1 to 1050) AUTHORS Kim J, Ha S, Son M, Kim D, Kim MJ, Kim B, Kim D, Chung HY and Chung KW. TITLE TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells JOURNAL Cell Commun Signal 21 (1), 215 (2023) PUBMED 37596656 REMARK GeneRIF: TLR7 activation by miR-21 promotes renal fibrosis by activating the pro-inflammatory signaling pathway in tubule epithelial cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 1050) AUTHORS Jackson WD, Giacomassi C, Ward S, Owen A, Luis TC, Spear S, Woollard KJ, Johansson C, Strid J and Botto M. TITLE TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity JOURNAL Elife 12, e85647 (2023) PUBMED 37566453 REMARK GeneRIF: TLR7 activation at epithelial barriers promotes emergency myelopoiesis and lung antiviral immunity. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1050) AUTHORS Heil F, Hemmi H, Hochrein H, Ampenberger F, Kirschning C, Akira S, Lipford G, Wagner H and Bauer S. TITLE Species-specific recognition of single-stranded RNA via toll-like receptor 7 and 8 JOURNAL Science 303 (5663), 1526-1529 (2004) PUBMED 14976262 REMARK GeneRIF: mediates species-specific recognition of GU-rich single-stranded RNA (ssRNA); data suggest that ssRNA represents a physiological ligand for TLR7 REFERENCE 7 (residues 1 to 1050) AUTHORS Diebold SS, Kaisho T, Hemmi H, Akira S and Reis e Sousa C. TITLE Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA JOURNAL Science 303 (5663), 1529-1531 (2004) PUBMED 14976261 REMARK GeneRIF: results identify ssRNA as a ligand for TLR7 and suggest that cells of the innate immune system sense endosomal ssRNA to detect infection by RNA viruses REFERENCE 8 (residues 1 to 1050) AUTHORS Pinhal-Enfield G, Ramanathan M, Hasko G, Vogel SN, Salzman AL, Boons GJ and Leibovich SJ. TITLE An angiogenic switch in macrophages involving synergy between Toll-like receptors 2, 4, 7, and 9 and adenosine A(2A) receptors JOURNAL Am J Pathol 163 (2), 711-721 (2003) PUBMED 12875990 REMARK GeneRIF: Results suggest novel signaling pathway in murine macrophages involving synergy between toll-like receptors 2, 4, 7, and 9 and adenosine A(2A)receptors, that up-regulates VEGF and down-regulates TNFalpha expression, thus acting as an angiogenic switch. REFERENCE 9 (residues 1 to 1050) AUTHORS Jurk,M., Heil,F., Vollmer,J., Schetter,C., Krieg,A.M., Wagner,H., Lipford,G. and Bauer,S. TITLE Human TLR7 or TLR8 independently confer responsiveness to the antiviral compound R-848 JOURNAL Nat Immunol 3 (6), 499 (2002) PUBMED 12032557 REFERENCE 10 (residues 1 to 1050) AUTHORS Hemmi H, Kaisho T, Takeuchi O, Sato S, Sanjo H, Hoshino K, Horiuchi T, Tomizawa H, Takeda K and Akira S. TITLE Small anti-viral compounds activate immune cells via the TLR7 MyD88-dependent signaling pathway JOURNAL Nat Immunol 3 (2), 196-200 (2002) PUBMED 11812998 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL731735.14, AK036549.1 and BY543663.1. On Dec 7, 2005 this sequence version replaced XP_918297.1. Transcript Variant: This variant (3) lacks two alternate exons in the 5' region and initiates translation from an alternate upstream start codon, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK036549.1, AF334942.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1050 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 78.31 cM" Protein 1..1050 /product="toll-like receptor 7 isoform a precursor" /note="Toll like receptor 7" /calculated_mol_wt=118668 sig_peptide 1..26 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" /calculated_mol_wt=3187 Region <32..>243 /region_name="PRK15370" /note="type III secretion system effector E3 ubiquitin transferase SlrP" /db_xref="CDD:185268" Region 42..64 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 48..69 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 65..87 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 66 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 69 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 70..90 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 89..111 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 91..128 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 126..149 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 129..152 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 151..170 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 167 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 171..195 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 174..>786 /region_name="PLN00113" /note="leucine-rich repeat receptor-like protein kinase; Provisional" /db_xref="CDD:215061" Region 174..205 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 203..226 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 206..226 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 215 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 227..250 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 228..247 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 248..273 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 251..291 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 275..289 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 290..312 /region_name="LRR 11" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 292..315 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 314..337 /region_name="LRR 12" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 316..341 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..364 /region_name="LRR 13" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 342..398 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 369..392 /region_name="LRR 14" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 387 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 396..419 /region_name="LRR 15" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 399..422 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 421..443 /region_name="LRR 16" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 493..516 /region_name="LRR 17" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 497..519 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 517..542 /region_name="LRR 18" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 520..544 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 524 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 535 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 543..565 /region_name="LRR 19" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 545..568 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 567..589 /region_name="LRR 20" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 569..598 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 591 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 596..619 /region_name="LRR 21" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 599..621 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 620..645 /region_name="LRR 22" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 622..652 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 650..673 /region_name="LRR 23" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 653..677 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 675..698 /region_name="LRR 24" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 678..701 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 680 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 699..722 /region_name="LRR 25" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 702..725 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 721 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 724..746 /region_name="LRR 26" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 747..770 /region_name="LRR 27" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 750..775 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 754..>838 /region_name="PCC" /note="polycystin cation channel protein; TIGR00864" /db_xref="CDD:188093" Region 773..796 /region_name="LRR 28" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 800 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P58681.1)" Site 838..858 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P58681.1)" Region 891..1036 /region_name="TIR" /note="Toll - interleukin 1 - resistance; smart00255" /db_xref="CDD:214587" CDS 1..1050 /gene="Tlr7" /coded_by="NM_133211.4:232..3384" /note="isoform a precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS30531.1" /db_xref="GeneID:170743" /db_xref="MGI:MGI:2176882" ORIGIN 1 mvfsmwtrkr qiliflnmll vsrvfgfrwf pktlpcevkv nipeahvivd ctdkhlteip 61 egiptnttnl tltinhipsi spdsfrrlnh leeidlrcnc vpvllgskan vctkrlqirp 121 gsfsglsdlk alyldgnqll eipqdlpssl hllsleanni fsitkenlte lvnietlylg 181 qncyyrnpcn vsysiekdaf lvmrnlkvls lkdnnvtavp ttlppnllel ylynniikki 241 qendfnnlne lqvldlsgnc prcynvpypc tpcennsplq ihdnafnslt elkvlrlhsn 301 slqhvpptwf knmrnlqeld lsqnylarei eeakflhflp nlveldfsfn yelqvyhasi 361 tlphslssle nlkilrvkgy vfkelknssl svlhklprle vldlgtnfik iadlnifkhf 421 enlklidlsv nkispseesr evgfcpnaqt svdrhgpqvl ealhyfryde yarscrfknk 481 eppsflplna dchiygqtld lsrnniffik psdfqhlsfl kclnlsgnti gqtlngselw 541 plrelryldf snnrldllys tafeelqsle vldlssnshy fqaegithml nftkklrlld 601 klmmndndis tsasrtmesd slrilefrgn hldvlwragd nryldffknl fnlevldisr 661 nslnslppev fegmppnlkn lslaknglks ffwdrlqllk hleildlshn qltkvperla 721 ncskslttli lkhnqirqlt kyfledalql ryldissnki qviqktsfpe nvlnnlemlv 781 lhhnrflcnc davwfvwwvn htdvtipyla tdvtcvgpga hkgqsvisld lytceldltn 841 lilfsvsiss vlflmvvmtt shlffwdmwy iyyfwkakik gyqhlqsmes cydafivydt 901 knsavtewvl qelvakledp rekhfnlcle erdwlpgqpv lenlsqsiql skktvfvmtq 961 kyaktesfkm afylshqrll dekvdviili flekplqksk flqlrkrlcr ssvlewpanp 1021 qahpyfwqcl knalttdnhv aysqmfketv // LOCUS NP_001349266 362 aa linear ROD 09-OCT-2023 DEFINITION CUGBP Elav-like family member 4 isoform 55 [Mus musculus]. ACCESSION NP_001349266 XP_017173291 VERSION NP_001349266.1 DBSOURCE REFSEQ: accession NM_001362337.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 362) AUTHORS Salamon I, Park Y, Miskic T, Kopic J, Matteson P, Page NF, Roque A, McAuliffe GW, Favate J, Garcia-Forn M, Shah P, Judas M, Millonig JH, Kostovic I, De Rubeis S, Hart RP, Krsnik Z and Rasin MR. TITLE Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex JOURNAL Nat Commun 14 (1), 6025 (2023) PUBMED 37758766 REMARK GeneRIF: Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only REFERENCE 2 (residues 1 to 362) AUTHORS Shen Y, Zhang C, Xiao K, Liu D and Xie G. TITLE CELF4 regulates spine formation and depression-like behaviors of mice JOURNAL Biochem Biophys Res Commun 605, 39-44 (2022) PUBMED 35306363 REMARK GeneRIF: CELF4 regulates spine formation and depression-like behaviors of mice. REFERENCE 3 (residues 1 to 362) AUTHORS Moreau MX, Saillour Y, Cwetsch AW, Pierani A and Causeret F. TITLE Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition JOURNAL Development 148 (14) (2021) PUBMED 34170322 REFERENCE 4 (residues 1 to 362) AUTHORS Li C, Li X, Bi Z, Sugino K, Wang G, Zhu T and Liu Z. TITLE Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages JOURNAL Elife 9, e50491 (2020) PUBMED 31913118 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 362) AUTHORS Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK and Steel KP. TITLE Mouse screen reveals multiple new genes underlying mouse and human hearing loss JOURNAL PLoS Biol 17 (4), e3000194 (2019) PUBMED 30973865 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 362) AUTHORS Ladd AN, Taffet G, Hartley C, Kearney DL and Cooper TA. TITLE Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy JOURNAL Mol Cell Biol 25 (14), 6267-6278 (2005) PUBMED 15988035 REMARK GeneRIF: CELF protein activity is required for normal alternative splicing in the heart in vivo and normal CELF-mediated alternative splicing regulation is in turn required for normal cardiac function. REFERENCE 7 (residues 1 to 362) AUTHORS Meins M, Schlickum S, Wilhelm C, Missbach J, Yadav S, Glaser B, Grzmil M, Burfeind P and Laccone F. TITLE Identification and characterization of murine Brunol4, a new member of the elav/bruno family JOURNAL Cytogenet Genome Res 97 (3-4), 254-260 (2002) PUBMED 12438720 REMARK GeneRIF: cloning and characterization REFERENCE 8 (residues 1 to 362) AUTHORS Ladd AN, Charlet N and Cooper TA. TITLE The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing JOURNAL Mol Cell Biol 21 (4), 1285-1296 (2001) PUBMED 11158314 REFERENCE 9 (residues 1 to 362) AUTHORS Good PJ, Chen Q, Warner SJ and Herring DC. TITLE A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator JOURNAL J Biol Chem 275 (37), 28583-28592 (2000) PUBMED 10893231 REFERENCE 10 (residues 1 to 362) AUTHORS Yulug IG, Egan SE, See CG and Fisher EM. TITLE Mapping GRB2, a signal transduction gene in the human and the mouse JOURNAL Genomics 22 (2), 313-318 (1994) PUBMED 7806216 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC121094.8 and AC144938.3. On Apr 12, 2018 this sequence version replaced XP_017173291.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660819.179292.1, SRR1660817.323477.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..362 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="18" /map="18 13.92 cM" Protein 1..362 /product="CUGBP Elav-like family member 4 isoform 55" /note="CUG-BP- and ETR-3-like factor 4; bruno-like protein 4; RNA-binding protein BRUNOL-4; bruno-like 4, RNA binding protein" /calculated_mol_wt=38364 Region 27..107 /region_name="RRM2_CELF3_4_5_6" /note="RNA recognition motif 2 (RRM2) found in CUGBP Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and similar proteins; cd12635" /db_xref="CDD:410043" Site order(29,31,33..34,37,56,58,60,68..70,72,102,104) /site_type="other" /note="putative RNA binding site [nucleotide binding]" /db_xref="CDD:410043" Region <30..254 /region_name="PABP-1234" /note="polyadenylate binding protein, human types 1, 2, 3, 4 family; TIGR01628" /db_xref="CDD:130689" Region 293..351 /region_name="RRM_SF" /note="RNA recognition motif (RRM) superfamily; cl17169" /db_xref="CDD:450164" CDS 1..362 /gene="Celf4" /gene_synonym="A230070D14Rik; Brul4; BRUNOL-4; Brunol4; C130060B05Rik" /coded_by="NM_001362337.1:214..1302" /note="isoform 55 is encoded by transcript variant 56" /db_xref="GeneID:108013" /db_xref="MGI:MGI:1932407" ORIGIN 1 mnrpiqvkpa dsesrggssc lrqppshrkl fvgmlnkqqs eddvrrlfea fgnieectil 61 rgpdgnskgc afvkysshae aqaainalhg sqtmpgasss lvvkfadtdk ertmrrmqqm 121 agqmgmfnpm aipfgaygay aqalmqqqaa lmasvaqggy lnpmaafaaa qmqqmaalnm 181 nglaaapmtp tsggstppgi tapavpsips pigvngftgl ppqangqpaa eavfangihp 241 ypaqsptaad plqqayagvq qyagpaaypa aygqisqafp qpppmipqqq regpegcnll 301 iyhlpqefgd aelmqmflpf gfvsfdnpas aqtaiqamng fqigmkrlkv qlkrpkdanr 361 py // LOCUS NP_001017959 415 aa linear ROD 09-OCT-2023 DEFINITION lysosome-associated membrane glycoprotein 2 isoform 1 precursor [Mus musculus]. ACCESSION NP_001017959 VERSION NP_001017959.1 DBSOURCE REFSEQ: accession NM_001017959.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 415) AUTHORS Liu D, Xing R, Zhang Q, Tian X, Qi Y, Song H, Liu Y, Yu H, Zhang X, Jing Q, Yan C and Han Y. TITLE The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes JOURNAL Exp Mol Med 55 (9), 2025-2038 (2023) PUBMED 37658156 REMARK GeneRIF: The CREG1-FBXO27-LAMP2 axis alleviates diabetic cardiomyopathy by promoting autophagy in cardiomyocytes. REFERENCE 2 (residues 1 to 415) AUTHORS Wang Y, Hang K, Ying L, Wu J, Wu X, Zhang W, Li L, Wang Z, Bai J, Gao X, Xue D and Pan Z. TITLE LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway JOURNAL J Mol Med (Berl) 101 (7), 783-799 (2023) PUBMED 37162558 REMARK GeneRIF: LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/beta-catenin/GSK3beta signaling pathway. REFERENCE 3 (residues 1 to 415) AUTHORS Zhang KK, Zhang P, Kodur A, Erturk I, Burns CM, Kenyon C, Miller RA and Endicott SJ. TITLE LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice JOURNAL Aging (Albany NY) 15 (11), 4685-4698 (2023) PUBMED 37315291 REMARK GeneRIF: LAMP2A, and other chaperone-mediated autophagy related proteins, do not decline with age in genetically heterogeneous UM-HET3 mice. REFERENCE 4 (residues 1 to 415) AUTHORS Maglica M, Kelam N, Haque E, Perutina I, Racetin A, Filipovic N, Katsuyama Y and Vukojevic K. TITLE Immunoexpression Pattern of Autophagy Markers in Developing and Postnatal Kidneys of Dab1-/-(yotari) Mice JOURNAL Biomolecules 13 (3), 402 (2023) PUBMED 36979337 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 415) AUTHORS Sutton KA and Wilkinson MF. TITLE The rapidly evolving Pem homeobox gene and Agtr2, Ant2, and Lamp2 are closely linked in the proximal region of the mouse X chromosome JOURNAL Genomics 45 (2), 447-450 (1997) PUBMED 9344676 REFERENCE 6 (residues 1 to 415) AUTHORS Cella N, Cornejo-Uribe RR, Montes GS, Hynes NE and Chammas R. TITLE The lysosomal-associated membrane protein LAMP-1 is a novel differentiation marker for HC11 mouse mammary epithelial cells JOURNAL Differentiation 61 (2), 113-120 (1996) PUBMED 8983177 REFERENCE 7 (residues 1 to 415) AUTHORS Gough NR, Hatem CL and Fambrough DM. TITLE The family of LAMP-2 proteins arises by alternative splicing from a single gene: characterization of the avian LAMP-2 gene and identification of mammalian homologs of LAMP-2b and LAMP-2c JOURNAL DNA Cell Biol 14 (10), 863-867 (1995) PUBMED 7546292 REFERENCE 8 (residues 1 to 415) AUTHORS Dardik A, Smith RM and Schultz RM. TITLE Colocalization of transforming growth factor-alpha and a functional epidermal growth factor receptor (EGFR) to the inner cell mass and preferential localization of the EGFR on the basolateral surface of the trophectoderm in the mouse blastocyst JOURNAL Dev Biol 154 (2), 396-409 (1992) PUBMED 1426645 REFERENCE 9 (residues 1 to 415) AUTHORS Granger BL, Green SA, Gabel CA, Howe CL, Mellman I and Helenius A. TITLE Characterization and cloning of lgp110, a lysosomal membrane glycoprotein from mouse and rat cells JOURNAL J Biol Chem 265 (20), 12036-12043 (1990) PUBMED 2142158 REFERENCE 10 (residues 1 to 415) AUTHORS Cha Y, Holland SM and August JT. TITLE The cDNA sequence of mouse LAMP-2. Evidence for two classes of lysosomal membrane glycoproteins JOURNAL J Biol Chem 265 (9), 5008-5013 (1990) PUBMED 2318880 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK163933.1, AK159272.1 and AL513356.8. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK159272.1, AK159731.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..415 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="X" /map="X 22.67 cM" Protein 1..415 /product="lysosome-associated membrane glycoprotein 2 isoform 1 precursor" /note="lysosome-associated membrane glycoprotein 2; CD107 antigen-like family member B; lysosomal membrane glycoprotein type B; lysosomal membrane glycoprotein 2" /calculated_mol_wt=43065 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2634 Region 26..188 /region_name="First lumenal domain" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 29 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 45 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 54 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 57 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 97 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 115 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 175 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Region 189..233 /region_name="Hinge" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" Region 202..227 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" Region 225..363 /region_name="Lamp" /note="Lysosome-associated membrane glycoprotein (Lamp); pfam01299" /db_xref="CDD:426189" Site 227 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Region 234..379 /region_name="Second lumenal domain" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 234 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 247 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 265 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 280 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 312 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 317 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 322 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 361 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P17047.2)" Site 380..404 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" Region 406..409 /region_name="Important for binding and subsequent lysosomal degradation of target proteins. /evidence=ECO:0000250|UniProtKB:P13473" /note="propagated from UniProtKB/Swiss-Prot (P17047.2)" CDS 1..415 /gene="Lamp2" /gene_synonym="CD107b; Lamp II; Lamp-2; Lamp-2a; Lamp-2b; Lamp-2c; LGP-B; Mac3" /coded_by="NM_001017959.2:158..1405" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS30092.1" /db_xref="GeneID:16784" /db_xref="MGI:MGI:96748" ORIGIN 1 mclspvkgak liliflflga vqsnalivnl tdskgtclya ewemnftity ettnqtnkti 61 tiavpdkath dgsscgddrn sakimiqfgf avswavnftk eashysihdi vlsyntsdst 121 vfpgavakgv htvknpenfk vpldvifkcn svltynltpv vqkywgihlq afvqngtvsk 181 neqvceedqt pttvapiiht tapsttttlt ptstptptpt ptptvgnysi rngnttclla 241 tmglqlnite ekvpfifnin pattnftgsc qpqsaqlrln nsqikyldfi favknekrfy 301 lkevnvymyl angsafnisn knlsfwdapl gssymcnkeq vlsvsrafqi ntfnlkvqpf 361 nvtkgqysta qdcsadednf lvpiavgaal ggvlilvlla yfiglkrhht gyeqf // LOCUS NP_001397158 491 aa linear ROD 09-OCT-2023 DEFINITION nuclear respiratory factor 1 isoform h [Mus musculus]. ACCESSION NP_001397158 XP_006505071 VERSION NP_001397158.1 DBSOURCE REFSEQ: accession NM_001410229.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 491) AUTHORS Cheng C, Tian Y, Yang R, Guo W, Xiao K, Zhang F, Tian J, Deng Z, Yang W, Yang H and Zhou Z. TITLE miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes JOURNAL Am J Pathol 193 (9), 1234-1247 (2023) PUBMED 37611970 REMARK GeneRIF: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes. REFERENCE 2 (residues 1 to 491) AUTHORS Meng Z, Liang B, Wu Y, Liu C, Wang H, Du Y, Gan L, Gao E, Lau WB, Christopher TA, Lopez BL, Koch WJ, Ma X, Zhao F, Wang Y and Zhao J. TITLE Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice JOURNAL J Mol Cell Cardiol 182, 1-14 (2023) PUBMED 37437402 REMARK GeneRIF: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice. REFERENCE 3 (residues 1 to 491) AUTHORS Zhao T, Zhang J, Lei H, Meng Y, Cheng H, Zhao Y, Geng G, Mu C, Chen L, Liu Q, Luo Q, Zhang C, Long Y, Su J, Wang Y, Li Z, Sun J, Chen G, Li Y, Liao X, Shang Y, Hu G, Chen Q and Zhu Y. TITLE NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity JOURNAL EMBO J 42 (16), e113258 (2023) PUBMED 37409632 REMARK GeneRIF: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity. REFERENCE 4 (residues 1 to 491) AUTHORS Akl MG, Baccetto R, Stebbings BM, Li L and Widenmaier SB. TITLE Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2 JOURNAL Biochem Biophys Res Commun 668, 96-103 (2023) PUBMED 37245295 REMARK GeneRIF: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2. REFERENCE 5 (residues 1 to 491) AUTHORS Akl MG, Li L, Baccetto R, Phanse S, Zhang Q, Trites MJ, McDonald S, Aoki H, Babu M and Widenmaier SB. TITLE Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload JOURNAL Cell Rep 42 (4), 112399 (2023) PUBMED 37060561 REMARK GeneRIF: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Erratum:[Cell Rep. 2023 Jul 25;42(7):112872. PMID: 37454293] REFERENCE 6 (residues 1 to 491) AUTHORS Carmona MC, Iglesias R, Obregon MJ, Darlington GJ, Villarroya F and Giralt M. TITLE Mitochondrial biogenesis and thyroid status maturation in brown fat require CCAAT/enhancer-binding protein alpha JOURNAL J Biol Chem 277 (24), 21489-21498 (2002) PUBMED 11940593 REFERENCE 7 (residues 1 to 491) AUTHORS Huo L and Scarpulla RC. TITLE Mitochondrial DNA instability and peri-implantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice JOURNAL Mol Cell Biol 21 (2), 644-654 (2001) PUBMED 11134350 REFERENCE 8 (residues 1 to 491) AUTHORS Schaefer L, Engman H and Miller JB. TITLE Coding sequence, chromosomal localization, and expression pattern of Nrf1: the mouse homolog of Drosophila erect wing JOURNAL Mamm Genome 11 (2), 104-110 (2000) PUBMED 10656923 REFERENCE 9 (residues 1 to 491) AUTHORS Huo L and Scarpulla RC. TITLE Multiple 5'-untranslated exons in the nuclear respiratory factor 1 gene span 47 kb and contribute to transcript heterogeneity and translational efficiency JOURNAL Gene 233 (1-2), 213-224 (1999) PUBMED 10375638 REFERENCE 10 (residues 1 to 491) AUTHORS Virbasius CA, Virbasius JV and Scarpulla RC. TITLE NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators JOURNAL Genes Dev 7 (12A), 2431-2445 (1993) PUBMED 8253388 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC134897.4 and AC153632.2. On Aug 1, 2022 this sequence version replaced XP_006505071.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR17784645.841229.1, SRR17253013.2097426.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..491 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="6" /map="6 12.47 cM" Protein 1..491 /product="nuclear respiratory factor 1 isoform h" /note="NRF-1; alpha-pal; alpha palindromic-binding protein" /calculated_mol_wt=52353 Region 87..295 /region_name="Nrf1_DNA-bind" /note="NLS-binding and DNA-binding and dimerization domains of Nrf1; pfam10491" /db_xref="CDD:402218" CDS 1..491 /gene="Nrf1" /gene_synonym="D6Ertd415e" /coded_by="NM_001410229.1:274..1749" /note="isoform h is encoded by transcript variant 19" /db_xref="GeneID:18181" /db_xref="MGI:MGI:1332235" ORIGIN 1 meehgvtqte hmatieahav aqqvqqvhva tytehsmlsa dedspssped tsyddsdiln 61 staadevtah laaavlgikp rashilgpvg maaaaavatg kkrkrphvfe snpsirkrqq 121 trllrklrat ldeyttrvgq qaivlcisps kpnpvfkvfg aaplenvvrk yksmiledle 181 salaehapap qevnselppl tidgipvsvd kmtqaqlraf ipemlkystg rgkpgwgkes 241 ckpiwwpedi pwanvrsdvr teeqkqrvsw tqalrtivkn cykqhgredl lyafedqqtq 301 tqattthsia hlvpsqtvvq tfsnpdgtvs liqvgtgatv atladaselp ttvtvaqvny 361 savadgeveq nwatlqggem tiqttqasea tqavaslaea avaasqemqq gatvtmalns 421 eaaahavatl aeatlqgggq ivlsgetaaa vgaltgvqda nglfmadcgg ykwilarrlq 481 vgsslgregs s // LOCUS NP_032706 789 aa linear ROD 09-OCT-2023 DEFINITION protein enabled homolog isoform 2 [Mus musculus]. ACCESSION NP_032706 VERSION NP_032706.2 DBSOURCE REFSEQ: accession NM_008680.4 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 789) AUTHORS Yun S, Cha SS and Kim JH. TITLE DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled JOURNAL Adv Biol Regul 88, 100943 (2023) PUBMED 36542983 REMARK GeneRIF: DJ-1 promotes cell migration by interacting with Mena, the mammalian homolog of Drosophila enabled. REFERENCE 2 (residues 1 to 789) AUTHORS Wang W, Taufalele PV, Millet M, Homsy K, Smart K, Berestesky ED, Schunk CT, Rowe MM, Bordeleau F and Reinhart-King CA. TITLE Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA JOURNAL Cell Rep 42 (4), 112338 (2023) PUBMED 37027295 REMARK GeneRIF: Matrix stiffness regulates tumor cell intravasation through expression and ESRP1-mediated alternative splicing of MENA. REFERENCE 3 (residues 1 to 789) AUTHORS Borriello L, Coste A, Traub B, Sharma VP, Karagiannis GS, Lin Y, Wang Y, Ye X, Duran CL, Chen X, Friedman M, Sosa MS, Sun D, Dalla E, Singh DK, Oktay MH, Aguirre-Ghiso JA, Condeelis JS and Entenberg D. TITLE Primary tumor associated macrophages activate programs of invasion and dormancy in disseminating tumor cells JOURNAL Nat Commun 13 (1), 626 (2022) PUBMED 35110548 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 789) AUTHORS Hooper JE, Jones KL, Smith FJ, Williams T and Li H. TITLE An Alternative Splicing Program for Mouse Craniofacial Development JOURNAL Front Physiol 11, 1099 (2020) PUBMED 33013468 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 789) AUTHORS Lee S, Sears MJ, Zhang Z, Li H, Salhab I, Krebs P, Xing Y, Nah HD, Williams T and Carstens RP. TITLE Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk JOURNAL Development 147 (21) (2020) PUBMED 32253237 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 789) AUTHORS Ermekova KS, Zambrano N, Linn H, Minopoli G, Gertler F, Russo T and Sudol M. TITLE The WW domain of neural protein FE65 interacts with proline-rich motifs in Mena, the mammalian homolog of Drosophila enabled JOURNAL J Biol Chem 272 (52), 32869-32877 (1997) PUBMED 9407065 REFERENCE 7 (residues 1 to 789) AUTHORS Bedford MT, Chan DC and Leder P. TITLE FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands JOURNAL EMBO J 16 (9), 2376-2383 (1997) PUBMED 9171351 REFERENCE 8 (residues 1 to 789) AUTHORS Yamabhai M and Kay BK. TITLE Examining the specificity of Src homology 3 domain--ligand interactions with alkaline phosphatase fusion proteins JOURNAL Anal Biochem 247 (1), 143-151 (1997) PUBMED 9126384 REFERENCE 9 (residues 1 to 789) AUTHORS Gertler FB, Niebuhr K, Reinhard M, Wehland J and Soriano P. TITLE Mena, a relative of VASP and Drosophila Enabled, is implicated in the control of microfilament dynamics JOURNAL Cell 87 (2), 227-239 (1996) PUBMED 8861907 REFERENCE 10 (residues 1 to 789) AUTHORS Sazuka T, Tomooka Y, Kathju S, Ikawa Y, Noda M and Kumar S. TITLE Identification of a developmentally regulated gene in the mouse central nervous system which encodes a novel proline rich protein JOURNAL Biochim Biophys Acta 1132 (3), 240-248 (1992) PUBMED 1420303 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122204.3 and AC165229.7. On Mar 20, 2007 this sequence version replaced NP_032706.1. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U72522.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164141 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..789 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="1" /map="1 84.93 cM" Protein 1..789 /product="protein enabled homolog isoform 2" /note="protein enabled homolog; NPC derived proline rich protein 1" /calculated_mol_wt=84376 Region 5..112 /region_name="EVH1_Ena_VASP-like" /note="Enabled/VASP family EVH1 domain; cd01207" /db_xref="CDD:269918" Site order(16,23,69,71,77,79,81) /site_type="other" /note="proline-rich peptide binding site [polypeptide binding]" /db_xref="CDD:269918" Region <306..526 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Region 604..630 /region_name="WH2_hVASP-like" /note="Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins; cd22185" /db_xref="CDD:409225" Site order(611..612,614..615,618,620..624) /site_type="other" /note="actin-binding motif [polypeptide binding]" /db_xref="CDD:409225" Region 620..623 /region_name="actin-binding sequence" /note="actin-binding sequence [structural motif]" /db_xref="CDD:409225" Region 750..785 /region_name="VASP_tetra" /note="VASP tetramerisation domain; pfam08776" /db_xref="CDD:430211" CDS 1..789 /gene="Enah" /gene_synonym="Mena; NDPP-1; Ndpp1; WBP8" /coded_by="NM_008680.4:449..2818" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS48474.1" /db_xref="GeneID:13800" /db_xref="MGI:MGI:108360" ORIGIN 1 mseqsicqar aavmvyddan kkwvpaggst gfsrvhiyhh tgnntfrvvg rkiqdhqvvi 61 ncaipkglky nqatqtfhqw rdarqvygln fgskedanvf asammhalev lnsqeavfyl 121 gptlprqnsq lpaqvqngps qeeleiqrrq lqeqqrqkel erermererl ererlererl 181 ererleqeql erqrqerehv erlererler lererqerer erleqlereq vewererrms 241 naapssdssl ssaplpeyss cqppsappps yakvisapvs datpdyavvt alpptstppt 301 pplrhaatrf atslgsafhp vlphyatvpr plnknsrpss pvntpssqpp aakscawpts 361 nfsplppspp imissppgka tgprpvlpvc vsspvpqmpp sptapngsld svtypvsppp 421 tsgpaapppp pppppppppp ppplpppplp plaslshcgs qaspppgtpl astpsskpsv 481 lpspsaaapa saetplnpel gdssasepgl qaasqpaesp tpqglvlgpp apppppplps 541 gpayasalpp ppgppppppl pstgpppppp pppplpnqap pppppppapp lpasgifsgs 601 tsednrpltg laaaiagakl rkvsrvedgs fpgggntgsv slasskadag rgngplplgg 661 sglmeemsal larrrriaek gstieteqke drnedaepit akapststpe ptrkpwertn 721 tmngskspvi srpkstpssq psangvqteg ldydrlkqdi ldemrkelak lkeelidair 781 qelsksnta // LOCUS NP_001351360 296 aa linear ROD 09-OCT-2023 DEFINITION pro-neuregulin-1, membrane-bound isoform isoform 12 [Mus musculus]. ACCESSION NP_001351360 VERSION NP_001351360.1 DBSOURCE REFSEQ: accession NM_001364431.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 296) AUTHORS Mikami Y, Iwase F, Ohshima D, Tomida T and Adachi-Akahane S. TITLE Compensatory role of neuregulin-1 in diabetic cardiomyopathy JOURNAL J Pharmacol Sci 153 (3), 130-141 (2023) PUBMED 37770154 REMARK GeneRIF: Compensatory role of neuregulin-1 in diabetic cardiomyopathy. REFERENCE 2 (residues 1 to 296) AUTHORS Qiao XY, Wang Y, Zhang W, Li Q, Liu C, Dao JJ, Qiao CM, Cui C, Shen YQ and Zhao WJ. TITLE Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1 JOURNAL J Integr Neurosci 22 (4), 96 (2023) PUBMED 37519170 REMARK GeneRIF: Involvement of CXCL10 in Neuronal Damage under the Condition of Spinal Cord Injury and the Potential Therapeutic Effect of Nrg1. REFERENCE 3 (residues 1 to 296) AUTHORS Liu H, Lu P, He S, Luo Y, Fang Y, Benkaci S, Wu B, Wang Y and Zhou B. TITLE beta-Catenin regulates endocardial cushion growth by suppressing p21 JOURNAL Life Sci Alliance 6 (9), e202302163 (2023) PUBMED 37385754 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 296) AUTHORS Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortes MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM and Sumner CJ. TITLE Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation JOURNAL Acta Neuropathol Commun 11 (1), 53 (2023) PUBMED 36997967 REMARK GeneRIF: Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Publication Status: Online-Only REFERENCE 5 (residues 1 to 296) AUTHORS Zhang X, Xiao G, Johnson C, Cai Y, Horowitz ZK, Mennicke C, Coffey R, Haider M, Threadgill D, Eliscu R, Oldham MC, Greenbaum A and Ghashghaei HT. TITLE Bulk and mosaic deletions of Egfr reveal regionally defined gliogenesis in the developing mouse forebrain JOURNAL iScience 26 (3), 106242 (2023) PUBMED 36915679 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 296) AUTHORS Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R and Lemke G. TITLE Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor JOURNAL Nature 378 (6555), 390-394 (1995) PUBMED 7477376 REFERENCE 7 (residues 1 to 296) AUTHORS Meyer,D. and Birchmeier,C. TITLE Multiple essential functions of neuregulin in development JOURNAL Nature 378 (6555), 386-390 (1995) PUBMED 7477375 REMARK Erratum:[Nature 1995 Dec 14;378(6558):753] REFERENCE 8 (residues 1 to 296) AUTHORS Moscoso LM, Chu GC, Gautam M, Noakes PG, Merlie JP and Sanes JR. TITLE Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle JOURNAL Dev Biol 172 (1), 158-169 (1995) PUBMED 7589796 REFERENCE 9 (residues 1 to 296) AUTHORS Yang Y, Spitzer E, Meyer D, Sachs M, Niemann C, Hartmann G, Weidner KM, Birchmeier C and Birchmeier W. TITLE Sequential requirement of hepatocyte growth factor and neuregulin in the morphogenesis and differentiation of the mammary gland JOURNAL J Cell Biol 131 (1), 215-226 (1995) PUBMED 7559778 REFERENCE 10 (residues 1 to 296) AUTHORS Ho WH, Armanini MP, Nuijens A, Phillips HS and Osheroff PL. TITLE Sensory and motor neuron-derived factor. A novel heregulin variant highly expressed in sensory and motor neurons JOURNAL J Biol Chem 270 (24), 14523-14532 (1995) PUBMED 7782315 REMARK Erratum:[J Biol Chem. 1995 Nov 3;270(44):26722. PMID: 7592900] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC132407.3 and AK048708.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7652917.166238.1, SRR1660817.66897.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..296 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 18.75 cM" Protein 1..296 /product="pro-neuregulin-1, membrane-bound isoform isoform 12" /note="heregulin; type III neuregulin 1; type I neuregulin 1; pro-neuregulin-1, membrane-bound isoform" /calculated_mol_wt=31273 Region <236..279 /region_name="PHA02887" /note="EGF-like protein; Provisional" /db_xref="CDD:165214" CDS 1..296 /gene="Nrg1" /gene_synonym="6030402G23Rik; ARIA; D230005F13Rik; GGF; GGFII; Hgl; HRG; HRGalpha; NDF; Pro-NRG1; SMDF" /coded_by="NM_001364431.1:641..1531" /note="isoform 12 is encoded by transcript variant 12" /db_xref="CCDS:CCDS90382.1" /db_xref="GeneID:211323" /db_xref="MGI:MGI:96083" ORIGIN 1 meiyppdmse gaggrsssps tqlsadpsld glpaaehmpd thtedgrspg llglavpccv 61 cleaerlrgc lnsekicivp ilaclvslcl ciaglkwvfv dkifeydspt hldpgglgqd 121 pvisldptaa savlvsseay tspvskaqse aeahvtgqgd hvavasepsa vptrknrlsa 181 fpplhstppp fpspartpev rtpksgtqpq ttetnlqtap klstststtg tshlikcaek 241 ektfcvngge cfmvkdlsnp srylckcpne ftgdrcqnyv masfyststp flslpe // LOCUS NP_001157102 764 aa linear ROD 09-OCT-2023 DEFINITION DNA-binding protein SATB1 isoform 1 [Mus musculus]. ACCESSION NP_001157102 VERSION NP_001157102.1 DBSOURCE REFSEQ: accession NM_001163630.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 764) AUTHORS Naito T, Ise M, Tanaka Y, Kohwi-Shigematsu T and Kondo M. TITLE Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection JOURNAL J Immunol 211 (2), 209-218 (2023) PUBMED 37256264 REMARK GeneRIF: Crucial Roles of SATB1 in Regulation of Thymocyte Migration after Positive Selection. REFERENCE 2 (residues 1 to 764) AUTHORS Nomura A, Kobayashi T, Seo W, Ohno-Oishi M, Kakugawa K, Muroi S, Yoshida H, Endo TA, Moro K and Taniuchi I. TITLE Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s JOURNAL Life Sci Alliance 6 (8), e202301897 (2023) PUBMED 37193606 REMARK GeneRIF: Identification of a novel enhancer essential for Satb1 expression in TH2 cells and activated ILC2s. Publication Status: Online-Only REFERENCE 3 (residues 1 to 764) AUTHORS Knowles SJ, Stafford AM, Zaman T, Angara K, Williams MR, Newbern JM and Vogt D. TITLE Distinct hyperactive RAS/MAPK alleles converge on common GABAergic interneuron core programs JOURNAL Development 150 (10) (2023) PUBMED 37254876 REFERENCE 4 (residues 1 to 764) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 5 (residues 1 to 764) AUTHORS Vasilopoulos N, Kaplanian A, Vinos M, Katsaiti Y, Christodoulou O, Denaxa M and Skaliora I. TITLE The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy JOURNAL J Neurosci Res 101 (4), 424-447 (2023) PUBMED 36541427 REMARK GeneRIF: The role of selective SATB1 deletion in somatostatin expressing interneurons on endogenous network activity and the transition to epilepsy. REFERENCE 6 (residues 1 to 764) AUTHORS Seo J, Lozano MM and Dudley JP. TITLE Nuclear matrix binding regulates SATB1-mediated transcriptional repression JOURNAL J Biol Chem 280 (26), 24600-24609 (2005) PUBMED 15851481 REMARK GeneRIF: SATB1-mediated transcriptional repression is regulated by nuclear matrix binding REFERENCE 7 (residues 1 to 764) AUTHORS Nie H, Maika SD, Tucker PW and Gottlieb PD. TITLE A role for SATB1, a nuclear matrix association region-binding protein, in the development of CD8SP thymocytes and peripheral T lymphocytes JOURNAL J Immunol 174 (8), 4745-4752 (2005) PUBMED 15814699 REMARK GeneRIF: essential role for SATB1 late in the development and maturation of CD8SP T cells REFERENCE 8 (residues 1 to 764) AUTHORS Cai S, Han HJ and Kohwi-Shigematsu T. TITLE Tissue-specific nuclear architecture and gene expression regulated by SATB1 JOURNAL Nat Genet 34 (1), 42-51 (2003) PUBMED 12692553 REMARK GeneRIF: in thymocyte nuclei, SATB1 has a cage-like 'network' distribution circumscribing heterochromatin and selectively tethers specialized DNA sequences onto its network REFERENCE 9 (residues 1 to 764) AUTHORS Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY and Kohwi-Shigematsu T. TITLE The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development JOURNAL Genes Dev 14 (5), 521-535 (2000) PUBMED 10716941 REFERENCE 10 (residues 1 to 764) AUTHORS Nakagomi K, Kohwi Y, Dickinson LA and Kohwi-Shigematsu T. TITLE A novel DNA-binding motif in the nuclear matrix attachment DNA-binding protein SATB1 JOURNAL Mol Cell Biol 14 (3), 1852-1860 (1994) PUBMED 8114718 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK158518.1, CV556064.1, AK037740.1, AK081385.1, AC131975.28 and AW045567.1. Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK158518.1, SRR1660817.250693.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..764 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 26.81 cM" Protein 1..764 /product="DNA-binding protein SATB1 isoform 1" /note="DNA-binding protein Satb1" /calculated_mol_wt=85749 Region 1..56 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 20..40 /region_name="Nuclear localization signal. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 72..170 /region_name="ULD" /note="Ubiquitin-like oligomerization domain of SATB; pfam16534" /db_xref="CDD:435405" Site order(75,77,94..98,100,132,134,137..138,144..147,155..156, 159..161,163..164) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:211426" Site 136 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 139..143 /region_name="Protein interaction. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 176..247 /region_name="CUTL" /note="CUT1-like DNA-binding domain of SATB; pfam16557" /db_xref="CDD:435427" Site 185 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q01826; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS)" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 224..278 /region_name="Nuclear matrix targeting sequence (NMTS). /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 254..255 /site_type="cleavage" /note="Cleavage, by caspases; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 266..307 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 372..444 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 450..474 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 497..567 /region_name="CUT" /note="CUT domain; pfam02376" /db_xref="CDD:426745" Region 591..650 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60611.2)" Site 638 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60611.2)" Region 645..702 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(647..650,652,670,676,689,691..692,695..696,698..700, 702..703) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(648,651,692,695..696,699) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..764 /gene="Satb1" /gene_synonym="2610306G12Rik" /coded_by="NM_001163630.1:322..2616" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS28876.1" /db_xref="GeneID:20230" /db_xref="MGI:MGI:105084" ORIGIN 1 mdhlneatqg kehsemsnnv sdpkgppaki arleqngspl grgrlgstgg kmqgvplkhs 61 ghlmktnlrk gtmlpvfcvv ehyenaieyd ckeehaefvl vrkdmlfnql iemallslgy 121 shssaaqakg liqvgkwnpv plsyvtdapd atvadmlqdv yhvvtlkiql hscpkledlp 181 peqwshttvr nalkdllkdm nqsslakecp lsqsmissiv nstyyanvsa akcqefgrwy 241 khfkktkdmm vemdslsels qqganhvnfg qqpvpgntae qppspaqlsh gsqpsvrtpl 301 pnlhpglvst pispqlvnqq lvmaqllnqq yavnrllaqq slnqqylnhp ppvsrsmnkp 361 leqqvstnte vsseiyqwvr delkragisq avfarvafnr tqgllseilr keedpktasq 421 sllvnlramq nflqlpeaer driyqderer slnaasamgp apllstppsr ppqvktatla 481 terngkpenn tmninasiyd eiqqemkrak vsqalfakva atksqgwlce llrwkedpsp 541 enrtlwenls mirrflslpq perdaiyeqe snavhhhgdr pphiihvpae qiqqqqqqqq 601 qqqqqqqppp pppqpqpqpq agprlpprqp tvassaesde enrqktrprt kisvealgil 661 qsfiqdvgly pdeeaiqtls aqldlpkyti ikffqnqryy lkhhgklkdn sglevdvaey 721 kdeellkdle esvqdknant lfsvkleeel svegstdvna dlkd // LOCUS NP_033094 656 aa linear ROD 09-OCT-2023 DEFINITION receptor-interacting serine/threonine-protein kinase 1 [Mus musculus]. ACCESSION NP_033094 VERSION NP_033094.3 DBSOURCE REFSEQ: accession NM_009068.3 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 656) AUTHORS Lu Y, Leng Y, Li Y, Wang J, Wang W, Wang R, Liu Y, Tan Q, Yang W, Jiang Y, Cai J, Yuan H, Weng L and Xu Q. TITLE Endothelial RIPK1 protects artery bypass graft against arteriosclerosis by regulating SMC growth JOURNAL Sci Adv 9 (35), eadh8939 (2023) PUBMED 37647392 REMARK GeneRIF: Endothelial RIPK1 protects artery bypass graft against arteriosclerosis by regulating SMC growth. REFERENCE 2 (residues 1 to 656) AUTHORS Sharma BR, Karki R, Rajesh Y and Kanneganti TD. TITLE Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis) JOURNAL J Biol Chem 299 (9), 105141 (2023) PUBMED 37557956 REMARK GeneRIF: Immune regulator IRF1 contributes to ZBP1-, AIM2-, RIPK1-, and NLRP12-PANoptosome activation and inflammatory cell death (PANoptosis). REFERENCE 3 (residues 1 to 656) AUTHORS Vucur M, Ghallab A, Schneider AT, Adili A, Cheng M, Castoldi M, Singer MT, Buttner V, Keysberg LS, Kusgens L, Kohlhepp M, Gorg B, Gallage S, Barragan Avila JE, Unger K, Kordes C, Leblond AL, Albrecht W, Loosen SH, Lohr C, Jordens MS, Babler A, Hayat S, Schumacher D, Koenen MT, Govaere O, Boekschoten MV, Jors S, Villacorta-Martin C, Mazzaferro V, Llovet JM, Weiskirchen R, Kather JN, Starlinger P, Trauner M, Luedde M, Heij LR, Neumann UP, Keitel V, Bode JG, Schneider RK, Tacke F, Levkau B, Lammers T, Fluegen G, Alexandrov T, Collins AL, Nelson G, Oakley F, Mann DA, Roderburg C, Longerich T, Weber A, Villanueva A, Samson AL, Murphy JM, Kramann R, Geisler F, Costa IG, Hengstler JG, Heikenwalder M and Luedde T. TITLE Sublethal necroptosis signaling promotes inflammation and liver cancer JOURNAL Immunity 56 (7), 1578-1595 (2023) PUBMED 37329888 REFERENCE 4 (residues 1 to 656) AUTHORS Zhang T, Xu D, Trefts E, Lv M, Inuzuka H, Song G, Liu M, Lu J, Liu J, Chu C, Wang M, Wang H, Meng H, Liu H, Zhuang Y, Xie X, Dang F, Guan D, Men Y, Jiang S, Jiang C, Dai X, Liu J, Wang Z, Yan P, Wang J, Tu Z, Babuta M, Erickson E, Hillis AL, Dibble CC, Asara JM, Szabo G, Sicinski P, Miao J, Lee YR, Pan L, Shaw RJ, Yuan J and Wei W. TITLE Metabolic orchestration of cell death by AMPK-mediated phosphorylation of RIPK1 JOURNAL Science 380 (6652), 1372-1380 (2023) PUBMED 37384704 REMARK GeneRIF: Metabolic orchestration of cell death by AMPK-mediated phosphorylation of RIPK1. REFERENCE 5 (residues 1 to 656) AUTHORS Carty F, Layzell S, Barbarulo A, Islam F, Webb LV and Seddon B. TITLE IKK promotes naive T cell survival by repressing RIPK1-dependent apoptosis and activating NF-kappaB JOURNAL Sci Signal 16 (791), eabo4094 (2023) PUBMED 37368952 REMARK GeneRIF: IKK promotes naive T cell survival by repressing RIPK1-dependent apoptosis and activating NF-kappaB. REFERENCE 6 (residues 1 to 656) AUTHORS Kaiserman D, Knaggs S, Scarff KL, Gillard A, Mirza G, Cadman M, McKeone R, Denny P, Cooley J, Benarafa C, Remold-O'Donnell E, Ragoussis J and Bird PI. TITLE Comparison of human chromosome 6p25 with mouse chromosome 13 reveals a greatly expanded ov-serpin gene repertoire in the mouse JOURNAL Genomics 79 (3), 349-362 (2002) PUBMED 11863365 REFERENCE 7 (residues 1 to 656) AUTHORS Melnick M, Chen H, Zhou Y and Jaskoll T. TITLE Embryonic mouse submandibular salivary gland morphogenesis and the TNF/TNF-R1 signal transduction pathway JOURNAL Anat Rec 262 (3), 318-330 (2001) PUBMED 11241200 REFERENCE 8 (residues 1 to 656) AUTHORS Hofmann K. TITLE The modular nature of apoptotic signaling proteins JOURNAL Cell Mol Life Sci 55 (8-9), 1113-1128 (1999) PUBMED 10442092 REMARK Review article REFERENCE 9 (residues 1 to 656) AUTHORS Kelliher MA, Grimm S, Ishida Y, Kuo F, Stanger BZ and Leder P. TITLE The death domain kinase RIP mediates the TNF-induced NF-kappaB signal JOURNAL Immunity 8 (3), 297-303 (1998) PUBMED 9529147 REFERENCE 10 (residues 1 to 656) AUTHORS Stanger BZ, Leder P, Lee TH, Kim E and Seed B. TITLE RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death JOURNAL Cell 81 (4), 513-523 (1995) PUBMED 7538908 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC054542.1. On Aug 28, 2003 this sequence version replaced NP_033094.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC054542.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..656 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="13" /map="13 14.01 cM" Protein 1..656 /product="receptor-interacting serine/threonine-protein kinase 1" /EC_number="2.7.11.1" /note="cell death protein RIP; receptor-interacting protein 1; serine/threonine-protein kinase RIP" /calculated_mol_wt=74724 Site 6 /site_type="phosphorylation" /note="Phosphoserine, by IKKA and IKKB. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 23..291 /region_name="PKc_like" /note="Protein Kinases, catalytic domain; cl21453" /db_xref="CDD:451246" Site order(23..26,29,31,43,45,76,92..95,138,142..143,145, 155..156) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270870" Site 25 /site_type="phosphorylation" /note="Phosphoserine, by IKKA and IKKB. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 161 /site_type="phosphorylation" /note="Phosphoserine, by RIPK3 and autocatalysis. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 166 /site_type="phosphorylation" /note="Phosphoserine, by autocatalysis. /evidence=ECO:0000269|PubMed:27819682, ECO:0000269|PubMed:28701375, ECO:0000269|PubMed:29440439, ECO:0000269|PubMed:30988283, ECO:0000269|PubMed:31519886, ECO:0000269|PubMed:31519887; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 169 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000269|PubMed:30988283; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 291..567 /region_name="Interaction with SQSTM1. /evidence=ECO:0000250|UniProtKB:Q13546" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 304 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q13546; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 313 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 321 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570, ECO:0007744|PubMed:21183079; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 325..326 /site_type="cleavage" /note="Cleavage, by CASP8. /evidence=ECO:0000269|PubMed:31511692, ECO:0000269|PubMed:31827280, ECO:0000269|PubMed:31827281; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 327..373 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 332 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 334 /site_type="phosphorylation" /note="Phosphoserine, by MAP3K7. /evidence=ECO:0000269|PubMed:28842570; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Site 383 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q13546; propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 388..423 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 520..536 /region_name="RIP homotypic interaction motif (RHIM). /evidence=ECO:0000269|PubMed:18442983, ECO:0000269|PubMed:27819681, ECO:0000269|PubMed:27819682" /note="propagated from UniProtKB/Swiss-Prot (Q60855.1)" Region 568..653 /region_name="Death_RIP1" /note="Death Domain of Receptor-Interacting Protein 1; cd08777" /db_xref="CDD:260048" CDS 1..656 /gene="Ripk1" /gene_synonym="D330015H01Rik; Rinp; RIP; RIP-1; Rip1" /coded_by="NM_009068.3:137..2107" /db_xref="CCDS:CCDS26443.1" /db_xref="GeneID:19766" /db_xref="MGI:MGI:108212" ORIGIN 1 mqpdmsldni kmassdllek tdldsggfgk vslcyhrshg fvilkkvytg pnraeynevl 61 leegkmmhrl rhsrvvkllg iiieegnysl vmeymekgnl mhvlktqidv plslkgriiv 121 eaiegmcylh dkgvihkdlk penilvdrdf hikiadlgva sfktwskltk ekdnkqkevs 181 sttkknnggt lyymapehln dinakpteks dvysfgivlw aifakkepye nvicteqfvi 241 ciksgnrpnv eeileycpre iislmercwq aipedrptfl gieeefrpfy lshfeeyvee 301 dvaslkkeyp dqspvlqrmf slqhdcvplp psrsnseqpg slhssqglqm gpveeswfss 361 speypqdend rsvqaklqee asyhafgifa ekqtkpqprq neaynreeer krrvshdpfa 421 qqrareniks agarghsdps ttsrgiavqq lswpatqtvw nnglynqhgf gttgtgvwyp 481 pnlsqmysty ktpvpetnip gstptmpyfs gpvaddliky tifnssgiqi gnhnymdvgl 541 nsqppnntck eestsrhqai fdnttsltde hlnpirenlg rqwkncarkl gftesqidei 601 dhdyerdglk ekvyqmlqkw lmregtkgat vgklaqalhq ccridllnhl irasqs // LOCUS NP_001020748 370 aa linear ROD 09-OCT-2023 DEFINITION transcription factor Maf [Mus musculus]. ACCESSION NP_001020748 XP_620716 VERSION NP_001020748.2 DBSOURCE REFSEQ: accession NM_001025577.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 370) AUTHORS Dos Santos M, Shah AM, Zhang Y, Bezprozvannaya S, Chen K, Xu L, Lin W, McAnally JR, Bassel-Duby R, Liu N and Olson EN. TITLE Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution JOURNAL Nat Commun 14 (1), 4333 (2023) PUBMED 37468485 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 370) AUTHORS Bao K, Isik Can U, Miller MM, Brown IK, Dell'Aringa M, Dooms H, Seibold MA, Scott-Browne J and Lee Reinhardt R. TITLE A bifurcated role for c-Maf in Th2 and Tfh2 cells during helminth infection JOURNAL Mucosal Immunol 16 (3), 357-372 (2023) PUBMED 37088263 REMARK GeneRIF: A bifurcated role for c-Maf in Th2 and Tfh2 cells during helminth infection. REFERENCE 3 (residues 1 to 370) AUTHORS Vanneste D, Bai Q, Hasan S, Peng W, Pirottin D, Schyns J, Marechal P, Ruscitti C, Meunier M, Liu Z, Legrand C, Fievez L, Ginhoux F, Radermecker C, Bureau F and Marichal T. TITLE MafB-restricted local monocyte proliferation precedes lung interstitial macrophage differentiation JOURNAL Nat Immunol 24 (5), 827-840 (2023) PUBMED 36928411 REFERENCE 4 (residues 1 to 370) AUTHORS Frezel N, Ranucci M, Foster E, Wende H, Pelczar P, Mendes R, Ganley RP, Werynska K, d'Aquin S, Beccarini C, Birchmeier C, Zeilhofer HU and Wildner H. TITLE c-Maf-positive spinal cord neurons are critical elements of a dorsal horn circuit for mechanical hypersensitivity in neuropathy JOURNAL Cell Rep 42 (4), 112295 (2023) PUBMED 36947543 REMARK GeneRIF: c-Maf-positive spinal cord neurons are critical elements of a dorsal horn circuit for mechanical hypersensitivity in neuropathy. REFERENCE 5 (residues 1 to 370) AUTHORS Fujino M, Morito N, Hayashi T, Ojima M, Ishibashi S, Kuno A, Koshiba S, Yamagata K and Takahashi S. TITLE Transcription factor c-Maf deletion improves streptozotocin-induced diabetic nephropathy by directly regulating Sglt2 and Glut2 JOURNAL JCI Insight 8 (6), e163306 (2023) PUBMED 36787192 REMARK GeneRIF: Transcription factor c-Maf deletion improves streptozotocin-induced diabetic nephropathy by directly regulating Sglt2 and Glut2. Publication Status: Online-Only REFERENCE 6 (residues 1 to 370) AUTHORS Pathak BG, Shaughnessy JD Jr, Meneton P, Greeb J, Shull GE, Jenkins NA and Copeland NG. TITLE Mouse chromosomal location of three epithelial sodium channel subunit genes and an apical sodium chloride cotransporter gene JOURNAL Genomics 33 (1), 124-127 (1996) PUBMED 8617496 REFERENCE 7 (residues 1 to 370) AUTHORS Avraham KB, Fletcher C, Overdier DG, Clevidence DE, Lai E, Costa RH, Jenkins NA and Copeland NG. TITLE Murine chromosomal location of eight members of the hepatocyte nuclear factor 3/fork head winged helix family of transcription factors JOURNAL Genomics 25 (2), 388-393 (1995) PUBMED 7789972 REFERENCE 8 (residues 1 to 370) AUTHORS Kurschner C and Morgan JI. TITLE The maf proto-oncogene stimulates transcription from multiple sites in a promoter that directs Purkinje neuron-specific gene expression JOURNAL Mol Cell Biol 15 (1), 246-254 (1995) PUBMED 7799931 REFERENCE 9 (residues 1 to 370) AUTHORS Bae SC, Ogawa E, Maruyama M, Oka H, Satake M, Shigesada K, Jenkins NA, Gilbert DJ, Copeland NG and Ito Y. TITLE PEBP2 alpha B/mouse AML1 consists of multiple isoforms that possess differential transactivation potentials JOURNAL Mol Cell Biol 14 (5), 3242-3252 (1994) PUBMED 8164679 REFERENCE 10 (residues 1 to 370) AUTHORS Andrews NC, Kotkow KJ, Ney PA, Erdjument-Bromage H, Tempst P and Orkin SH. TITLE The ubiquitous subunit of erythroid transcription factor NF-E2 is a small basic-leucine zipper protein related to the v-maf oncogene JOURNAL Proc Natl Acad Sci U S A 90 (24), 11488-11492 (1993) PUBMED 8265578 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC113301.7. On Jul 29, 2005 this sequence version replaced NP_001020748.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..370 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="8" /map="8 62.61 cM" Protein 1..370 /product="transcription factor Maf" /note="c-Maf long form; proto-oncogene c-maf; V-maf musculoaponeurotic fibrosarcoma oncogene homolog; avian musculoaponeurotic fibrosarcoma (v-maf) AS42 oncogene homolog; avian musculoaponeurotic fibrosarcoma oncogene homolog" /calculated_mol_wt=38304 Region 57..84 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P54843.2)" Region 86..119 /region_name="Maf_N" /note="Maf N-terminal region; pfam08383" /db_xref="CDD:429961" Region 126..370 /region_name="Represses ARE-mediated transcription. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P54843.2)" Region 175..244 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (P54843.2)" Region 280..348 /region_name="bZIP_Maf_large" /note="Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain; cd14718" /db_xref="CDD:269866" Region 280..348 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:269866" Region 285..310 /region_name="Basic motif. /evidence=ECO:0000255|PROSITE-ProRule:PRU00978" /note="propagated from UniProtKB/Swiss-Prot (P54843.2)" Site order(287,290..292,294..296,298..300,302..303,305..306) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:269866" Site order(306,313,316..317,320..321,323..324,327..328, 330..331,334,337..338,341..342,344..345) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:269866" Region 313..334 /region_name="Leucine-zipper. /evidence=ECO:0000255|PROSITE-ProRule:PRU00978" /note="propagated from UniProtKB/Swiss-Prot (P54843.2)" CDS 1..370 /gene="Maf" /gene_synonym="2810401A20Rik; A230108G15Rik; c-maf" /coded_by="NM_001025577.2:32..1144" /db_xref="CCDS:CCDS40486.1" /db_xref="GeneID:17132" /db_xref="MGI:MGI:96909" ORIGIN 1 maselamnns dlptsplame yvndfdlmkf evkkepvetd riisqcgrli aggslsstpm 61 stpcssvpps psfsapspgs gseqkahled yywmtgypqq lnpealgfsp edavealisn 121 shqlqggfdg yargaqqlaa aagagagasl ggsgeemgpa aavvsaviaa aaaqsgaaph 181 yhhhhhhaag hhhhptagap gaaggasasa sgaggagggg pasagggggg gggggtagag 241 galhphhaag glhfddrfsd eqlvtmsvre lnrqlrgvsk eevirlkqkr rtlknrgyaq 301 scrfkrvqqr hvleseknql lqqvdhlkqe isrlvrerda ykekyeklvs ngfrengsss 361 dnpsspeffm // LOCUS NP_001390654 736 aa linear ROD 09-OCT-2023 DEFINITION transcriptional repressor CTCF isoform 1 [Mus musculus]. ACCESSION NP_001390654 VERSION NP_001390654.1 DBSOURCE REFSEQ: accession NM_001403725.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 736) AUTHORS Hewitt SC, Gruzdev A, Willson CJ, Wu SP, Lydon JP, Galjart N and DeMayo FJ. TITLE Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation JOURNAL FASEB J 37 (8), e23103 (2023) PUBMED 37489832 REMARK GeneRIF: Chromatin architectural factor CTCF is essential for progesterone-dependent uterine maturation. REFERENCE 2 (residues 1 to 736) AUTHORS Smits WK, Vermeulen C, Hagelaar R, Kimura S, Vroegindeweij EM, Buijs-Gladdines JGCAM, van de Geer E, Verstegen MJAM, Splinter E, van Reijmersdal SV, Buijs A, Galjart N, van Eyndhoven W, van Min M, Kuiper R, Kemmeren P, Mullighan CG, de Laat W and Meijerink JPP. TITLE Elevated enhancer-oncogene contacts and higher oncogene expression levels by recurrent CTCF inactivating mutations in acute T cell leukemia JOURNAL Cell Rep 42 (4), 112373 (2023) PUBMED 37060567 REFERENCE 3 (residues 1 to 736) AUTHORS Wang B, Ji L and Bian Q. TITLE SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites JOURNAL Cell Rep 42 (4), 112323 (2023) PUBMED 37000624 REMARK GeneRIF: SATB1 regulates 3D genome architecture in T cells by constraining chromatin interactions surrounding CTCF-binding sites. REFERENCE 4 (residues 1 to 736) AUTHORS Marina-Zarate E, Rodriguez-Ronchel A, Gomez MJ, Sanchez-Cabo F and Ramiro AR. TITLE Low-affinity CTCF binding drives transcriptional regulation whereas high-affinity binding encompasses architectural functions JOURNAL iScience 26 (3), 106106 (2023) PUBMED 36852270 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 736) AUTHORS Hsieh TS, Cattoglio C, Slobodyanyuk E, Hansen AS, Darzacq X and Tjian R. TITLE Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 JOURNAL Nat Genet 54 (12), 1919-1932 (2022) PUBMED 36471071 REMARK GeneRIF: Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1. REFERENCE 6 (residues 1 to 736) AUTHORS Farrell CM, West AG and Felsenfeld G. TITLE Conserved CTCF insulator elements flank the mouse and human beta-globin loci JOURNAL Mol Cell Biol 22 (11), 3820-3831 (2002) PUBMED 11997516 REMARK GeneRIF: Conserved CTCF insulator elements flank the mouse and human beta-globin loci. REFERENCE 7 (residues 1 to 736) AUTHORS Burke LJ, Hollemann T, Pieler T and Renkawitz R. TITLE Molecular cloning and expression of the chromatin insulator protein CTCF in Xenopus laevis JOURNAL Mech Dev 113 (1), 95-98 (2002) PUBMED 11900981 REFERENCE 8 (residues 1 to 736) AUTHORS Chao W, Huynh KD, Spencer RJ, Davidow LS and Lee JT. TITLE CTCF, a candidate trans-acting factor for X-inactivation choice JOURNAL Science 295 (5553), 345-347 (2002) PUBMED 11743158 REMARK GeneRIF: It's proposed that Tsix and CTCF together establish a regulatable epigenetic switch for X-inactivation. REFERENCE 9 (residues 1 to 736) AUTHORS Lutz M, Burke LJ, Barreto G, Goeman F, Greb H, Arnold R, Schultheiss H, Brehm A, Kouzarides T, Lobanenkov V and Renkawitz R. TITLE Transcriptional repression by the insulator protein CTCF involves histone deacetylases JOURNAL Nucleic Acids Res 28 (8), 1707-1713 (2000) PUBMED 10734189 REFERENCE 10 (residues 1 to 736) AUTHORS Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, Neiman PE, Collins SJ and Lobanenkov VV. TITLE An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes JOURNAL Mol Cell Biol 16 (6), 2802-2813 (1996) PUBMED 8649389 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC127419.3 and AC152826.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR13422601.1200606.1, SRR13422600.292784.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..736 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="8" /map="8 53.04 cM" Protein 1..736 /product="transcriptional repressor CTCF isoform 1" /note="transcriptional repressor CTCF; CTCFL paralog; 11-zinc finger protein" /calculated_mol_wt=83615 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 180..211 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 266..289 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(273,275,277,279..280,283..284,287,301,303,307..308, 311..312,315,329,331,333,335..336,339..340,346) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 289 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 309..333 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Site 317 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 324..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 351..375 /region_name="zf-H2C2_5" /note="C2H2-type zinc-finger domain; pfam13909" /db_xref="CDD:404746" Region 353..373 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <366..500 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Site 374 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 381..401 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site 402 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 409..426 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 439..457 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(474,476,478,480..481,484..485,488,502,504,508..509, 512..513,516,530,532,534,536..537,540..541,545) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 497..517 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 509..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:433230" Region 525..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 557..573 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 573..686 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 609 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 610 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Site 612 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P49711; propagated from UniProtKB/Swiss-Prot (Q61164.2)" Region 699..726 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q61164.2)" CDS 1..736 /gene="Ctcf" /coded_by="NM_001403725.1:143..2353" /note="isoform 1 is encoded by transcript variant 5" /db_xref="GeneID:13018" /db_xref="MGI:MGI:109447" ORIGIN 1 megeaveaiv eesetfikgk erktyqrrre ggqeedachl pqnqtdggev vqdvnssvqm 61 vmmeqldptl lqmktevmeg tvapeaeaav ddtqiitlqv vnmeeqpini gelqlvqvpv 121 pvtvpvatts veelqgayen evskeglaes epmichtlpl pegfqvvkvg angevetleq 181 gelppqedss wqkdpdyqpp akktkktkks klryteegkd vdvsvydfee eqqegllsev 241 naekvvgnmk ppkptkikkk gvkktfqcel csytcprrsn ldrhmkshtd erphkchlcg 301 rafrtvtllr nhlnthtgtr phkcpdcdma fvtsgelvrh rrykhthekp fkcsmcdyas 361 vevsklkrhi rshtgerpfq cslcsyasrd tyklkrhmrt hsgekpyecy icharftqsg 421 tmkmhilqkh tenvakfhcp hcdtviarks dlgvhlrkqh syieqgkkcr ycdavfhery 481 aliqhqkshk nekrfkcdqc dyacrqerhm imhkrthtge kpyacshcdk tfrqkqlldm 541 hfkryhdpnf vpaafvcskc gktftrrntm arhadncagp dgvegengge tkkskrgrkr 601 kmrskkedss dseenaepdl ddneeeeepa veiepepepq pqpppppqpv apapppakkr 661 rgrppgrtnq pkqnqptaii qvedqntgai eniivevkke pdaepaegee eeaqaattda 721 pngdltpemi lsmmdr // LOCUS NP_035191 666 aa linear ROD 09-OCT-2023 DEFINITION protein-arginine deiminase type-4 [Mus musculus]. ACCESSION NP_035191 XP_920193 VERSION NP_035191.2 DBSOURCE REFSEQ: accession NM_011061.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 666) AUTHORS Singh AK, Khan S, Moore D, Andrews S and Christophorou MA. TITLE Transcriptomic analysis of PADI4 target genes during multi-lineage differentiation of embryonic stem cells JOURNAL Philos Trans R Soc Lond B Biol Sci 378 (1890), 20220236 (2023) PUBMED 37778387 REMARK GeneRIF: Transcriptomic analysis of PADI4 target genes during multi-lineage differentiation of embryonic stem cells. REFERENCE 2 (residues 1 to 666) AUTHORS Indeglia A, Leung JC, Miller SA, Leu JI, Dougherty JF, Clarke NL, Kirven NA, Shao C, Ke L, Lovell S, Barnoud T, Lu DY, Lin C, Kannan T, Battaile KP, Yang THL, Batista Oliva I, Claiborne DT, Vogel P, Liu L, Liu Q, Nefedova Y, Cassel J, Auslander N, Kossenkov AV, Karanicolas J and Murphy ME. TITLE An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of p53-Mediated Tumor Suppression JOURNAL Cancer Discov 13 (7), 1696-1719 (2023) PUBMED 37140445 REMARK GeneRIF: An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of p53-Mediated Tumor Suppression. REFERENCE 3 (residues 1 to 666) AUTHORS Circiumaru A, Afonso MG, Wahamaa H, Krishnamurthy A, Hansson M, Mathsson-Alm L, Keszei M, Stalesen R, Ottosson L, de Vries C, Shelef MA, Malmstrom V, Klareskog L, Catrina AI, Gronwall C, Hensvold A and Rethi B. TITLE Anti-Citrullinated Protein Antibody Reactivity towards Neutrophil-Derived Antigens: Clonal Diversity and Inter-Individual Variation JOURNAL Biomolecules 13 (4), 630 (2023) PUBMED 37189377 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 666) AUTHORS Sano M, Maejima Y, Nakagama S, Shiheido-Watanabe Y, Tamura N, Hirao K, Isobe M and Sasano T. TITLE Neutrophil extracellular traps-mediated Beclin-1 suppression aggravates atherosclerosis by inhibiting macrophage autophagy JOURNAL Front Cell Dev Biol 10, 876147 (2022) PUBMED 35923856 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 666) AUTHORS Young C, Russell JR, Van De Lagemaat LN, Lawson H, Mapperley C, Kranc KR and Christophorou MA. TITLE Intrinsic function of the peptidylarginine deiminase PADI4 is dispensable for normal haematopoiesis JOURNAL Biol Open 11 (6) (2022) PUBMED 35603697 REFERENCE 6 (residues 1 to 666) AUTHORS Nguyen C, Singson E, Kim JY, Cornelius JG, Attia R, Doyle ME, Bulosan M, Cha S and Peck AB. TITLE Sjogren's syndrome-like disease of C57BL/6.NOD-Aec1 Aec2 mice: gender differences in keratoconjunctivitis sicca defined by a cross-over in the chromosome 3 Aec1 locus JOURNAL Scand J Immunol 64 (3), 295-307 (2006) PUBMED 16918699 REFERENCE 7 (residues 1 to 666) AUTHORS Liu M, Oh A, Calarco P, Yamada M, Coonrod SA and Talbot P. TITLE Peptidylarginine deiminase (PAD) is a mouse cortical granule protein that plays a role in preimplantation embryonic development JOURNAL Reprod Biol Endocrinol 3, 42 (2005) PUBMED 16137333 REMARK Publication Status: Online-Only REFERENCE 8 (residues 1 to 666) AUTHORS Cuthbert GL, Daujat S, Snowden AW, Erdjument-Bromage H, Hagiwara T, Yamada M, Schneider R, Gregory PD, Tempst P, Bannister AJ and Kouzarides T. TITLE Histone deimination antagonizes arginine methylation JOURNAL Cell 118 (5), 545-553 (2004) PUBMED 15339660 REFERENCE 9 (residues 1 to 666) AUTHORS Chavanas S, Mechin MC, Takahara H, Kawada A, Nachat R, Serre G and Simon M. TITLE Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6 JOURNAL Gene 330, 19-27 (2004) PUBMED 15087120 REFERENCE 10 (residues 1 to 666) AUTHORS Rus'd AA, Ikejiri Y, Ono H, Yonekawa T, Shiraiwa M, Kawada A and Takahara H. TITLE Molecular cloning of cDNAs of mouse peptidylarginine deiminase type I, type III and type IV, and the expression pattern of type I in mouse JOURNAL Eur J Biochem 259 (3), 660-669 (1999) PUBMED 10092850 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK137625.1, AB013850.1, AI645912.1 and BY544067.1. On Sep 6, 2007 this sequence version replaced NP_035191.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK137625.1, AB013850.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..666 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="4" /map="4 72.34 cM" Protein 1..666 /product="protein-arginine deiminase type-4" /EC_number="3.5.3.15" /note="peptidylarginine deiminase IV; protein-arginine deiminase type IV; PAD type IV" /calculated_mol_wt=74284 Region 1..111 /region_name="PAD_N" /note="Protein-arginine deiminase (PAD) N-terminal domain; pfam08526" /db_xref="CDD:430055" Region 113..273 /region_name="PAD_M" /note="Protein-arginine deiminase (PAD) middle domain; pfam08527" /db_xref="CDD:430056" Region 283..663 /region_name="PAD" /note="Protein-arginine deiminase (PAD); pfam03068" /db_xref="CDD:427121" CDS 1..666 /gene="Padi4" /gene_synonym="Pad4; Pdi4" /coded_by="NM_011061.2:24..2024" /db_xref="CCDS:CCDS18854.1" /db_xref="GeneID:18602" /db_xref="MGI:MGI:1338898" ORIGIN 1 maqgavihva peqpthavcv vgtatpldvr gsapkgyttf gitaspgviv dvihgppvkk 61 stmgaskwpl dpelevtlqv kaassrtdde kvrvsyygpk tspvqaliyi tgvelslsad 121 vtrtgrvkpa qagkdqstwt wgpggrgail lvncdkedpq asgmdfeddk ildnkdlqdm 181 spmtlstktp kdffekyqlv levpkakmnr vrvfratrgk lpsrykvalg pqqfsyclel 241 pggqhstdfy veglafpdad fkglipltis lldksnpelp ealvfqdsvt frvapwimtp 301 ntqppqevyv crvsdnedfl kslatltkka kckltvcpee eniddqwmqd emeigyiqap 361 hktlpvvfds prdrglkdfp vkrvmgpnfg yvtrklymse ltgldafgnl evsppvtvrg 421 keyplgrili gnsgyssses rdmhqalqdf lsaqqvqapv rlfsdwlfvg hvdeflsfvp 481 ardkqgfrll lsspracyql fqelqsqghg eatlfeglkr krqtineils nkklrdqnay 541 vescidwnra vlkrelglae gdiidipqlf klagnsrgns kaqaffpnmv nmlvlgkylg 601 ipkpfgpiid ghccleeevr shleplglhc tfindfytyh vyngevhcgt nvrrkpftfk 661 wwhmvp // LOCUS NP_062340 147 aa linear ROD 09-OCT-2023 DEFINITION allograft inflammatory factor 1 isoform a [Mus musculus]. ACCESSION NP_062340 VERSION NP_062340.1 DBSOURCE REFSEQ: accession NM_019467.4 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 147) AUTHORS Altounian M, Bellon A and Mann F. TITLE Neuronal miR-17-5p contributes to interhemispheric cortical connectivity defects induced by prenatal alcohol exposure JOURNAL Cell Rep 42 (9), 113020 (2023) PUBMED 37610874 REFERENCE 2 (residues 1 to 147) AUTHORS Rodriguez-Lopez A, Torres-Paniagua AM, Acero G, Diaz G and Gevorkian G. TITLE Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice JOURNAL J Neuroimmunol 382, 578150 (2023) PUBMED 37467699 REMARK GeneRIF: Increased TSPO expression, pyroglutamate-modified amyloid beta (AbetaN3(pE)) accumulation and transient clustering of microglia in the thalamus of Tg-SwDI mice. REFERENCE 3 (residues 1 to 147) AUTHORS Cao B, Xia Y, Cai Z, Wang Z, Tang C and Song Y. TITLE Construction of a Brain-specific SLC23A2 Gene Knockout Mice Model JOURNAL Neuroscience 524, 137-148 (2023) PUBMED 37330196 REFERENCE 4 (residues 1 to 147) AUTHORS Meng H, Zhao Y, Li Y, Fan H, Yi X, Meng X, Wang P, Fu F, Wu S and Wang Y. TITLE Evidence for developmental vascular-associated necroptosis and its contribution to venous-lymphatic endothelial differentiation JOURNAL Front Cell Dev Biol 11, 1229788 (2023) PUBMED 37576598 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 147) AUTHORS Waldhauser V, Baroti T, Frob F and Wegner M. TITLE PBAF Subunit Pbrm1 Selectively Influences the Transition from Progenitors to Pre-Myelinating Cells during Oligodendrocyte Development JOURNAL Cells 12 (12), 1556 (2023) PUBMED 37371026 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 147) AUTHORS Sasaki Y, Ohsawa K, Kanazawa H, Kohsaka S and Imai Y. TITLE Iba1 is an actin-cross-linking protein in macrophages/microglia JOURNAL Biochem Biophys Res Commun 286 (2), 292-297 (2001) PUBMED 11500035 REFERENCE 7 (residues 1 to 147) AUTHORS Ohsawa K, Imai Y, Kanazawa H, Sasaki Y and Kohsaka S. TITLE Involvement of Iba1 in membrane ruffling and phagocytosis of macrophages/microglia JOURNAL J Cell Sci 113 (Pt 17), 3073-3084 (2000) PUBMED 10934045 REFERENCE 8 (residues 1 to 147) AUTHORS Allcock RJ, Martin AM and Price P. TITLE The mouse as a model for the effects of MHC genes on human disease JOURNAL Immunol Today 21 (7), 328-332 (2000) PUBMED 10871872 REMARK Review article REFERENCE 9 (residues 1 to 147) AUTHORS Handel-Fernandez ME, Kurimoto I, Streilein JW and Vincek V. TITLE Genetic mapping and physical cloning of UVB susceptibility region in mice JOURNAL J Invest Dermatol 113 (2), 224-229 (1999) PUBMED 10469308 REFERENCE 10 (residues 1 to 147) AUTHORS Lund T, Shaikh S, Kendall E, Campbell RD, Hattori M, Makino S and Cooke A. TITLE RFLP analysis of the MHC class III region defines unique haplotypes for the non-obese diabetic, cataract Shionogi and the non-obese non-diabetic mouse strains JOURNAL Diabetologia 36 (8), 727-733 (1993) PUBMED 8104833 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR974444.18. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK006184.1, AK006562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..147 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="17" /map="17 18.59 cM" Protein 1..147 /product="allograft inflammatory factor 1 isoform a" /note="testis specific; ionized calcium binding adapter molecule 1" /calculated_mol_wt=16779 Site 2 /site_type="acetylation" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P81076; propagated from UniProtKB/Swiss-Prot (O70200.1)" Site 11 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:P55008; propagated from UniProtKB/Swiss-Prot (O70200.1)" Region <48..113 /region_name="PTZ00184" /note="calmodulin; Provisional" /db_xref="CDD:185504" Region 128..147 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (O70200.1)" CDS 1..147 /gene="Aif1" /gene_synonym="AIF-1; D17H6S50E; G1; Iba1" /coded_by="NM_019467.4:315..758" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS28689.1" /db_xref="GeneID:11629" /db_xref="MGI:MGI:1343098" ORIGIN 1 msqsrdlqgg kafgllkaqq eerleginkq flddpkysnd edlpskleaf kvkymefdln 61 gngdidimsl krmleklgvp kthlelkrli revssgseet fsysdflrmm lgkrsailrm 121 ilmyeeknke hkrptgppak kaiselp // LOCUS NP_076402 977 aa linear ROD 09-OCT-2023 DEFINITION serine/threonine-protein kinase/endoribonuclease IRE1 precursor [Mus musculus]. ACCESSION NP_076402 VERSION NP_076402.1 DBSOURCE REFSEQ: accession NM_023913.2 KEYWORDS RefSeq; RefSeq Select. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 977) AUTHORS Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A and Zhao J. TITLE Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia JOURNAL Int J Biol Sci 19 (15), 4709-4725 (2023) PUBMED 37781516 REMARK GeneRIF: Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia. Publication Status: Online-Only REFERENCE 2 (residues 1 to 977) AUTHORS Flores-Santibanez F, Rennen S, Fernandez D, De Nolf C, Van De Velde E, Gaete Gonzalez S, Fuentes C, Moreno C, Figueroa D, Lladser A, Iwawaki T, Bono MR, Janssens S and Osorio F. TITLE Nuanced role for dendritic cell intrinsic IRE1 RNase in the regulation of antitumor adaptive immunity JOURNAL Front Immunol 14, 1209588 (2023) PUBMED 37346037 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 977) AUTHORS Knaus LS, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler FM, Knittl-Frank C, Tassinari M, Maulide N, Rulicke T, Menche J, Hippenmeyer S and Novarino G. TITLE Large neutral amino acid levels tune perinatal neuronal excitability and survival JOURNAL Cell 186 (9), 1950-1967 (2023) PUBMED 36996814 REFERENCE 4 (residues 1 to 977) AUTHORS Massoudi D, Gorman S, Kuo YM, Iwawaki T, Oakes SA, Papa FR and Gould DB. TITLE Deletion of the Unfolded Protein Response Transducer IRE1alpha Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration JOURNAL Invest Ophthalmol Vis Sci 64 (4), 30 (2023) PUBMED 37097227 REMARK GeneRIF: Deletion of the Unfolded Protein Response Transducer IRE1alpha Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration. REFERENCE 5 (residues 1 to 977) AUTHORS Park EJ, Kim HS, Lee DH, Kim SM, Yoon JS, Lee JM, Im SJ, Lee H, Lee MW and Lee CW. TITLE Ssu72 phosphatase is essential for thermogenic adaptation by regulating cytosolic translation JOURNAL Nat Commun 14 (1), 1097 (2023) PUBMED 36841836 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 977) AUTHORS Miyoshi K, Katayama T, Imaizumi K, Taniguchi M, Mori Y, Hitomi J, Yui D, Manabe T, Gomi F, Yoneda T and Tohyama M. TITLE Characterization of mouse Ire1 alpha: cloning, mRNA localization in the brain and functional analysis in a neural cell line JOURNAL Brain Res Mol Brain Res 85 (1-2), 68-76 (2000) PUBMED 11146108 REFERENCE 7 (residues 1 to 977) AUTHORS Harding HP, Zhang Y, Bertolotti A, Zeng H and Ron D. TITLE Perk is essential for translational regulation and cell survival during the unfolded protein response JOURNAL Mol Cell 5 (5), 897-904 (2000) PUBMED 10882126 REFERENCE 8 (residues 1 to 977) AUTHORS Urano F, Wang X, Bertolotti A, Zhang Y, Chung P, Harding HP and Ron D. TITLE Coupling of stress in the ER to activation of JNK protein kinases by transmembrane protein kinase IRE1 JOURNAL Science 287 (5453), 664-666 (2000) PUBMED 10650002 REFERENCE 9 (residues 1 to 977) AUTHORS Araki K, Imaizumi T, Sekimoto T, Yoshinobu K, Yoshimuta J, Akizuki M, Miura K, Araki M and Yamamura K. TITLE Exchangeable gene trap using the Cre/mutated lox system JOURNAL Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999) PUBMED 10512203 REFERENCE 10 (residues 1 to 977) AUTHORS Wang XZ, Harding HP, Zhang Y, Jolicoeur EM, Kuroda M and Ron D. TITLE Cloning of mammalian Ire1 reveals diversity in the ER stress responses JOURNAL EMBO J 17 (19), 5708-5717 (1998) PUBMED 9755171 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AB031332.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB031332.1, SRR10223970.14812.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..977 /organism="Mus musculus" /db_xref="taxon:10090" /chromosome="11" /map="11 69.14 cM" Protein 1..977 /product="serine/threonine-protein kinase/endoribonuclease IRE1 precursor" /EC_number="2.7.11.1" /note="serine/threonine-protein kinase/endoribonuclease IRE1; ire1-alpha; inositol-requiring protein 1; endoplasmic reticulum-to-nucleus signaling 1; inositol-requiring 1 alpha; endoplasmic reticulum (ER) to nucleus signalling 1" /calculated_mol_wt=108064 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2139 Region 32..300 /region_name="Luminal_IRE1" /note="The Luminal domain, a dimerization domain, of the Serine/Threonine protein kinase, Inositol-requiring protein 1; cd09769" /db_xref="CDD:188875" Site order(108..112,118,120..123,125..127,139,141..143,146, 159..160,168,170,185,187..189) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:188875" Site 178 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Site 446..466 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Region 498..559 /region_name="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" /note="propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Region 568..833 /region_name="STKc_IRE1" /note="Catalytic domain of the Serine/Threonine kinase, Inositol-requiring protein 1; cd13982" /db_xref="CDD:270884" Site order(568,591..592,594,617..618,620,622,627..631,643,674, 677..678,681..682,706,824,827) /site_type="other" /note="dimer interface (back-to-back) [polypeptide binding]" /db_xref="CDD:270884" Site order(574,588,723..724,753,797..799,822) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:270884" Site order(577..581,586,597,599,626,642..645,648,650,688,690, 692..693,695,711,714,733..736) /site_type="active" /db_xref="CDD:270884" Site order(577..581,584,586,597,599,626,642..643,645,648, 692..693,695,711) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270884" Site order(579,582..583,585,600,602,634,636..637,779..780, 782..783,786) /site_type="other" /note="dimer interface (face-to-face) [polypeptide binding]" /db_xref="CDD:270884" Site order(581,648,650,688,690,692,714,733..736) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270884" Site order(710..725,729..736) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270884" Site 724 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:O75460; propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Site 729 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000269|PubMed:35975910; propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Region 836..961 /region_name="RNase_Ire1" /note="RNase domain (also known as the kinase extension nuclease domain) of Ire1; cd10422" /db_xref="CDD:199217" Site order(836..837,840,844,908,926,956,959..960) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:199217" Site order(838,934,938,941..942,946) /site_type="other" /note="kinase interface [polypeptide binding]" /db_xref="CDD:199217" Site order(840,844,847..848,905,908..909,912,925..927,955..956, 959) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:199217" Site 892 /site_type="other" /note="Interacts with hydroxy-aryl-aldehyde inhibitors. /evidence=ECO:0000269|PubMed:25164867; propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" Region 906..907 /region_name="Interacts with hydroxy-aryl-aldehyde inhibitors. /evidence=ECO:0000269|PubMed:25164867" /note="propagated from UniProtKB/Swiss-Prot (Q9EQY0.1)" CDS 1..977 /gene="Ern1" /gene_synonym="9030414B18Rik; Ire1a; Ire1alpha; Ire1p" /coded_by="NM_023913.2:121..3054" /db_xref="CCDS:CCDS25556.1" /db_xref="GeneID:78943" /db_xref="MGI:MGI:1930134" ORIGIN 1 mparwlllll alllpppgpg sfgrtstvtl petllfvstl dgslhavskr tgsikwtlke 61 dpvlqvpthv eepaflpdpn dgslytlggk nnegltklpf tipelvqasp crssdgilym 121 gkkqdiwyvi dlltgekqqt lssafadslc pstsllylgr teytitmydt ktrelrwnat 181 yfdyaaslpe ddvdykmshf vsngdglvvt vdsesgdvlw iqnyaspvva fyvwqgevlr 241 kvvhinvave tlryltfmsg evgritkwky pfpketeaks kltptlyvgk ystslyasps 301 mvhegvavvp rgstlplleg pqtdgvtigd kgecvitpst dlkfdpglkg ksklnylrny 361 wllighhetp lsastkmler fpnnlpkhre nvipadsekr sfeevinivg qtsdntpttv 421 sqdveeklar apakpeapvd smlkdmatii lstfllvgwv afiityplsv hqqrqlqhqq 481 fqkelekiql lqqqqlpfhp hgdltqdpef ldssgpfses sgtsspspsp rasnhslhps 541 ssasragtsp sleqddedee trmvivgkis fcpkdvlghg aegtivykgm fdnrdvavkr 601 ilpecfsfad revqllresd ehpnviryfc tekdrqfqyi aielcaatlq eyveqkdfah 661 lglepitllh qttsglahlh slnivhrdlk phnillsmpn ahgrikamis dfglckklav 721 grhsfsrrsg vpgtegwiap emlsedckdn ptytvdifsa gcvfyyvise gnhpfgkslq 781 rqanillgac nldcfhsdkh edviarelie kmiamdpqqr psakhvlkhp ffwslekqlq 841 ffqdvsdrie kealdgpivr qlerggravv kmdwrenitv plqtdlrkfr tykggsvrdl 901 lramrnkkhh yrelpvevqe tlgsipddfv ryftsrfphl lshtyqamel crherlfqty 961 ywheptepqp pvipyal // LOCUS NP_001278108 452 aa linear ROD 09-OCT-2023 DEFINITION nuclear factor of activated T-cells, cytoplasmic 2 isoform c [Mus musculus]. ACCESSION NP_001278108 XP_006498959 VERSION NP_001278108.1 DBSOURCE REFSEQ: accession NM_001291179.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 452) AUTHORS Fu Y, Wang J, Liu C, Liao K, Gao X, Tang R, Fan B, Hong Y, Xiao N, Xiao C and Liu WH. TITLE Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation JOURNAL Cell Mol Immunol 20 (10), 1127-1139 (2023) PUBMED 37553428 REMARK GeneRIF: Glycogen synthase kinase 3 controls T-cell exhaustion by regulating NFAT activation. REFERENCE 2 (residues 1 to 452) AUTHORS Wan X, Zhao S, Dai Y, Zhang J, Shen Y, Gong L and Le Q. TITLE WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway JOURNAL Cell Prolif 56 (10), e13460 (2023) PUBMED 36974338 REMARK GeneRIF: WNT16b promotes the proliferation and self-renewal of human limbal epithelial stem/progenitor cells via activating the calcium/calcineurin A/NFATC2 pathway. REFERENCE 3 (residues 1 to 452) AUTHORS Jiang F, Guo Y, Hu L, Zhang M, Meng J, Si Y and Shi H. TITLE Role of nuclear factor of activated T Cells-1 in Sepsis-induced behavioral deficits in mice JOURNAL Brain Res 1806, 148299 (2023) PUBMED 36842570 REFERENCE 4 (residues 1 to 452) AUTHORS Nagai J, Lin J and Boyce JA. TITLE Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation JOURNAL J Immunol 209 (12), 2293-2303 (2022) PUBMED 36307120 REMARK GeneRIF: Macrophage P2Y6 Receptor Signaling Selectively Activates NFATC2 and Suppresses Allergic Lung Inflammation. REFERENCE 5 (residues 1 to 452) AUTHORS Zhu L, Zhou X, Gu M, Kim J, Li Y, Ko CJ, Xie X, Gao T, Cheng X and Sun SC. TITLE Dapl1 controls NFATc2 activation to regulate CD8+ T cell exhaustion and responses in chronic infection and cancer JOURNAL Nat Cell Biol 24 (7), 1165-1176 (2022) PUBMED 35773432 REFERENCE 6 (residues 1 to 452) AUTHORS Vihma H, Pruunsild P and Timmusk T. TITLE Alternative splicing and expression of human and mouse NFAT genes JOURNAL Genomics 92 (5), 279-291 (2008) PUBMED 18675896 REFERENCE 7 (residues 1 to 452) AUTHORS Ho SN, Thomas DJ, Timmerman LA, Li X, Francke U and Crabtree GR. TITLE NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity JOURNAL J Biol Chem 270 (34), 19898-19907 (1995) PUBMED 7650004 REFERENCE 8 (residues 1 to 452) AUTHORS Jain J, Burgeon E, Badalian TM, Hogan PG and Rao A. TITLE A similar DNA-binding motif in NFAT family proteins and the Rel homology region JOURNAL J Biol Chem 270 (8), 4138-4145 (1995) PUBMED 7876165 REFERENCE 9 (residues 1 to 452) AUTHORS Li X, Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR and Francke U. TITLE Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp JOURNAL Cytogenet Cell Genet 68 (3-4), 185-191 (1995) PUBMED 7842733 REFERENCE 10 (residues 1 to 452) AUTHORS Ho AM, Jain J, Rao A and Hogan PG. TITLE Expression of the transcription factor NFATp in a neuronal cell line and in the murine nervous system JOURNAL J Biol Chem 269 (45), 28181-28186 (1994) PUBMED 7961754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK135414.1, EU887602.1 and AW049827.1. On Mar 27, 2014 this sequence version replaced XP_006498959.1. Transcript Variant: This variant (16, also known as IB-IIS-VIIa) contains alternate 5' and 3' exon structure, and it thus differs in both UTRs, initiates translation at a downstream in-frame start codon, and differs in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a. Both variants 2 and 16 encode isoform c. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU887602.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMN00849374, SAMN00849375 [ECO:0006172] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..452 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="2" /map="2 88.91 cM" Protein 1..452 /product="nuclear factor of activated T-cells, cytoplasmic 2 isoform c" /note="nuclear factor of activated T-cells, cytoplasmic 2; NFAT pre-existing subunit; T-cell transcription factor NFAT1" /calculated_mol_wt=48777 Region 179..353 /region_name="RHD-n_NFAT" /note="N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins; cd07881" /db_xref="CDD:143641" Site order(202,205,207..208,210..212,260,301,303..304,318..319, 321,352) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:143641" Region 358..>397 /region_name="IPT" /note="Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor...; cl15674" /db_xref="CDD:449574" CDS 1..452 /gene="Nfatc2" /gene_synonym="NF-ATc2; NF-ATp; NFAT1; NFAT1-D; Nfatp" /coded_by="NM_001291179.1:318..1676" /note="isoform c is encoded by transcript variant 16" /db_xref="CCDS:CCDS17114.1" /db_xref="GeneID:18019" /db_xref="MGI:MGI:102463" ORIGIN 1 msprtslaed sclgrhspvp rpasrssspg akrrhscaea lvaplpaasp qrsrspspqp 61 sphvalqdds ipagypptag savlmdalnt latdspcgip skiwktspdp tpvstapska 121 glarhiyptv eflgpceqee rrnsapesil lvpptwpkql vpaipicsip vtaslpplew 181 plsnqsgsye lrievqpkph hrahyetegs rgavkaptgg hpvvqlhgym enkplglqif 241 igtaderilk phafyqvhri tgktvtttsy ekivgntkvl eiplepknnm ratidcagil 301 klrnadielr kgetdigrkn trvrlvfrvh vpepsgrivs lqaasnpiec sqrsahelpm 361 verqdmdscl vyggqqmilt gqnftaeskv vfmekttgpa gtcetrplpi slisadrlsp 421 wlsrlqrnpp gsvfrcsvll papgsslvll al // LOCUS NP_001394501 494 aa linear ROD 09-OCT-2023 DEFINITION mitogen-activated protein kinase 10 isoform 7 [Mus musculus]. ACCESSION NP_001394501 VERSION NP_001394501.1 DBSOURCE REFSEQ: accession NM_001407572.1 KEYWORDS RefSeq. SOURCE Mus musculus (house mouse) ORGANISM Mus musculus Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus. REFERENCE 1 (residues 1 to 494) AUTHORS Priego M, Noriega L, Kalinin S, Hoffman LM, Feinstein DL and Morfini G. TITLE Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis JOURNAL J Neuroimmunol 382, 578152 (2023) PUBMED 37454525 REMARK GeneRIF: Genetic deletion of c-Jun amino-terminal kinase 3 (JNK3) modestly increases disease severity in a mouse model of multiple sclerosis. REFERENCE 2 (residues 1 to 494) AUTHORS Liu F, Deng Y, Zhao Y, Li Z, Gao J, Zhang Y, Yang X, Liu Y and Xia Y. TITLE Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice JOURNAL J Mol Cell Cardiol 168, 70-82 (2022) PUBMED 35489387 REMARK GeneRIF: Time series RNA-seq analysis identifies MAPK10 as a critical gene in diabetes mellitus-induced atrial fibrillation in mice. REFERENCE 3 (residues 1 to 494) AUTHORS Cunningham JG, Scripter JD, Nti SA and Tucker ES. TITLE Early construction of the thalamocortical axon pathway requires c-Jun N-terminal kinase signaling within the ventral forebrain JOURNAL Dev Dyn 251 (3), 459-480 (2022) PUBMED 34494344 REFERENCE 4 (residues 1 to 494) AUTHORS Goodwani S, Fernandez C, Acton PJ, Buggia-Prevot V, McReynolds ML, Ma J, Hu CH, Hamby ME, Jiang Y, Le K, Soth MJ, Jones P and Ray WJ. TITLE Dual Leucine Zipper Kinase Is Constitutively Active in the Adult Mouse Brain and Has Both Stress-Induced and Homeostatic Functions JOURNAL Int J Mol Sci 21 (14), 4849 (2020) PUBMED 32659913 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 494) AUTHORS Loughran G, Chou MY, Ivanov IP, Jungreis I, Kellis M, Kiran AM, Baranov PV and Atkins JF. TITLE Evidence of efficient stop codon readthrough in four mammalian genes JOURNAL Nucleic Acids Res 42 (14), 8928-8938 (2014) PUBMED 25013167 REFERENCE 6 (residues 1 to 494) AUTHORS Beier H and Grimm M. TITLE Misreading of termination codons in eukaryotes by natural nonsense suppressor tRNAs JOURNAL Nucleic Acids Res 29 (23), 4767-4782 (2001) PUBMED 11726686 REMARK Review article REFERENCE 7 (residues 1 to 494) AUTHORS Yang DD, Kuan CY, Whitmarsh AJ, Rincon M, Zheng TS, Davis RJ, Rakic P and Flavell RA. TITLE Absence of excitotoxicity-induced apoptosis in the hippocampus of mice lacking the Jnk3 gene JOURNAL Nature 389 (6653), 865-870 (1997) PUBMED 9349820 REFERENCE 8 (residues 1 to 494) AUTHORS Casanova E, Garate C, Ovalle S, Calvo P and Chinchetru MA. TITLE Identification of four splice variants of the mouse stress-activated protein kinase JNK/SAPK alpha-isoform JOURNAL Neuroreport 7 (7), 1320-1324 (1996) PUBMED 8817558 REFERENCE 9 (residues 1 to 494) AUTHORS Martin JH, Mohit AA and Miller CA. TITLE Developmental expression in the mouse nervous system of the p493F12 SAP kinase JOURNAL Brain Res Mol Brain Res 35 (1-2), 47-57 (1996) PUBMED 8717339 REFERENCE 10 (residues 1 to 494) AUTHORS Suzuki J, Yoshida S, Chen ZL, Momota Y, Kato K, Hirata A and Shiosaka S. TITLE Ontogeny of neuropsin mRNA expression in the mouse brain JOURNAL Neurosci Res 23 (4), 345-351 (1995) PUBMED 8602273 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC123664.15, AC137121.9 and AC125252.7. Summary: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK042368.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..494 /organism="Mus musculus" /strain="C57BL/6" /db_xref="taxon:10090" /chromosome="5" /map="5 49.61 cM" Protein 1..494 /product="mitogen-activated protein kinase 10 isoform 7" /EC_number="2.7.11.24" /note="JNK3 beta1 protein kinase; JNK3 beta2 protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; stress-activated protein kinase JNK3; SAPK/Erk/kinase 2" /calculated_mol_wt=55583 Region 93..428 /region_name="STKc_JNK" /note="Catalytic domain of the Serine/Threonine Kinase, c-Jun N-terminal Kinase; cd07850" /db_xref="CDD:270840" Site order(100..106,108,121,123,140,154,176..182,184..185,219, 221,223..224,226,236..237,240,251,253..256,258,295) /site_type="active" /db_xref="CDD:270840" Site order(100..106,108,121,123,154,176..182,226,236) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270840" Site order(140,184,219,221,240,251,253..256,258,295) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270840" Site order(180,186,195,198,227..231,391..392,394,397) /site_type="other" /note="KIM docking site [polypeptide binding]" /db_xref="CDD:270840" Site order(236..246,250..258) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270840" CDS 1..494 /gene="Mapk10" /gene_synonym="C230008H04Rik; JNK3; JNK3B1; JNK3B2; p493F12; p54bSAPK; SAPK(beta); Serk2" /coded_by="NM_001407572.1:43..1527" /note="isoform 7 is encoded by transcript variant 7" /db_xref="GeneID:26414" /db_xref="MGI:MGI:1346863" ORIGIN 1 mgdtgvsgap mkemaqvmri aevtedgrvf mslhflyycs eptldvkiaf cqgfdkhvdv 61 ssiakhynms kskvdnqfys vevgdstftv lkryqnlkpi gsgaqgivca aydavldrnv 121 aikklsrpfq nqthakrayr elvlmkcvnh kniisllnvf tpqktleefq dvylvmelmd 181 anlcqviqme ldhermsyll yqmlcgikhl hsagiihrdl kpsnivvksd ctlkildfgl 241 artagtsfmm tpyvvtryyr apevilgmgy kenvdiwsvg cimgemvrhk ilfpgrdyid 301 qwnkvieqlg tpcpefmkkl qptvrnyven rpkyagltfp klfpdslfpa dsehnklkas 361 qardllskml vidpakrisv ddalqhpyin vwydpaevea pppqiydkql derehtieew 421 keliykevmn seektkngvv kgqpspsgaa vnsseslpps ssvndissms tdqtlasdtd 481 ssleasagpl gccr //