ID NEMP1_HUMAN Reviewed; 444 AA. AC O14524; Q17R72; Q68DH0; Q6IQ25; DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot. DT 23-NOV-2004, sequence version 2. DT 13-FEB-2019, entry version 140. DE RecName: Full=Nuclear envelope integral membrane protein 1; DE Flags: Precursor; GN Name=NEMP1; Synonyms=KIAA0286, TMEM194, TMEM194A; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; RX PubMed=9179496; DOI=10.1093/dnares/4.1.53; RA Ohara O., Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., RA Nomura N.; RT "Construction and characterization of human brain cDNA libraries RT suitable for analysis of cDNA clones encoding relatively large RT proteins."; RL DNA Res. 4:53-59(1997). RN [2] RP SEQUENCE REVISION. RX PubMed=12168954; DOI=10.1093/dnares/9.3.99; RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.; RT "Construction of expression-ready cDNA clones for KIAA genes: manual RT curation of 330 KIAA cDNA clones."; RL DNA Res. 9:99-106(2002). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Amygdala; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Endometrial tumor; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RC TISSUE=Placenta; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-368, AND IDENTIFICATION RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007; RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., RA Greff Z., Keri G., Stemmann O., Mann M.; RT "Kinase-selective enrichment enables quantitative phosphoproteomics of RT the kinome across the cell cycle."; RL Mol. Cell 31:438-448(2008). RN [7] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-368, AND IDENTIFICATION RP BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-424 AND SER-425, AND RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Liver; RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., RA Wang L., Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human RT liver phosphoproteome."; RL J. Proteomics 96:253-262(2014). CC -!- SUBUNIT: Homooligomer. Interacts with RAN-GTP. CC {ECO:0000250|UniProtKB:B9X187, ECO:0000250|UniProtKB:Q6ZQE4}. CC -!- SUBCELLULAR LOCATION: Nucleus inner membrane CC {ECO:0000250|UniProtKB:Q6ZQE4}; Multi-pass membrane protein CC {ECO:0000255}; Nucleoplasmic side {ECO:0000250|UniProtKB:B9X187}. CC Nucleus envelope {ECO:0000250|UniProtKB:Q6ZQE4}. Note=Colocalizes CC with lamins and RAN-GTP at the nuclear envelope. CC {ECO:0000250|UniProtKB:Q6ZQE4}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=O14524-1; Sequence=Displayed; CC Name=2; CC IsoId=O14524-2; Sequence=VSP_011896; CC Note=No experimental confirmation available.; CC -!- DOMAIN: The transmembrane domains are required and sufficient for CC its oligomerization. {ECO:0000250|UniProtKB:B9X187}. CC -!- PTM: Phosphorylation may regulate its interaction with RAN-GTP. CC {ECO:0000250|UniProtKB:Q6ZQE4}. CC -!- SIMILARITY: Belongs to the NEMP family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH71597.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=BAA22955.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AB006624; BAA22955.2; ALT_INIT; mRNA. DR EMBL; CR749406; CAH18250.1; -; mRNA. DR EMBL; AK294566; BAG57761.1; -; mRNA. DR EMBL; BC071597; AAH71597.1; ALT_INIT; mRNA. DR EMBL; BC117436; AAI17437.1; -; mRNA. DR EMBL; BC126300; AAI26301.1; -; mRNA. DR CCDS; CCDS31841.1; -. [O14524-2] DR CCDS; CCDS44927.1; -. [O14524-1] DR RefSeq; NP_001124435.1; NM_001130963.1. [O14524-1] DR RefSeq; NP_056072.2; NM_015257.2. [O14524-2] DR UniGene; Hs.591040; -. DR ProteinModelPortal; O14524; -. DR BioGrid; 116898; 31. DR IntAct; O14524; 29. DR MINT; O14524; -. DR STRING; 9606.ENSP00000300128; -. DR GlyConnect; 1577; -. DR iPTMnet; O14524; -. DR PhosphoSitePlus; O14524; -. DR BioMuta; NEMP1; -. DR EPD; O14524; -. DR jPOST; O14524; -. DR MaxQB; O14524; -. DR PaxDb; O14524; -. DR PeptideAtlas; O14524; -. DR PRIDE; O14524; -. DR ProteomicsDB; 48069; -. DR ProteomicsDB; 48070; -. [O14524-2] DR DNASU; 23306; -. DR Ensembl; ENST00000300128; ENSP00000300128; ENSG00000166881. [O14524-1] DR Ensembl; ENST00000379391; ENSP00000368701; ENSG00000166881. [O14524-2] DR GeneID; 23306; -. DR KEGG; hsa:23306; -. DR UCSC; uc001smx.4; human. [O14524-1] DR CTD; 23306; -. DR EuPathDB; HostDB:ENSG00000166881.9; -. DR GeneCards; NEMP1; -. DR H-InvDB; HIX0010743; -. DR HGNC; HGNC:29001; NEMP1. DR HPA; HPA014394; -. DR MIM; 616496; gene. DR neXtProt; NX_O14524; -. DR OpenTargets; ENSG00000166881; -. DR PharmGKB; PA162406290; -. DR eggNOG; KOG3817; Eukaryota. DR eggNOG; ENOG410ZZKM; LUCA. DR GeneTree; ENSGT00390000002174; -. DR HOGENOM; HOG000122573; -. DR HOVERGEN; HBG052180; -. DR InParanoid; O14524; -. DR OMA; INILSWT; -. DR OrthoDB; 536946at2759; -. DR PhylomeDB; O14524; -. DR TreeFam; TF314831; -. DR GenomeRNAi; 23306; -. DR PRO; PR:O14524; -. DR Proteomes; UP000005640; Chromosome 12. DR Bgee; ENSG00000166881; Expressed in 180 organ(s), highest expression level in female gonad. DR ExpressionAtlas; O14524; baseline and differential. DR Genevisible; O14524; HS. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005635; C:nuclear envelope; ISS:UniProtKB. DR GO; GO:0005637; C:nuclear inner membrane; IEA:UniProtKB-SubCell. DR InterPro; IPR019358; NEMP_fam. DR PANTHER; PTHR13598; PTHR13598; 1. DR Pfam; PF10225; NEMP; 1. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Glycoprotein; Membrane; KW Nucleus; Phosphoprotein; Polymorphism; Reference proteome; Signal; KW Transmembrane; Transmembrane helix. FT SIGNAL 1 43 {ECO:0000255}. FT CHAIN 44 444 Nuclear envelope integral membrane FT protein 1. FT /FTId=PRO_0000050744. FT TRANSMEM 161 181 Helical. {ECO:0000255}. FT TRANSMEM 186 206 Helical. {ECO:0000255}. FT TRANSMEM 216 236 Helical. {ECO:0000255}. FT TRANSMEM 245 265 Helical. {ECO:0000255}. FT TRANSMEM 289 309 Helical. {ECO:0000255}. FT REGION 186 297 A; required for its colocalization with FT lamins at the nuclear envelope. FT {ECO:0000250|UniProtKB:Q6ZQE4}. FT REGION 336 444 Required for nuclear localization. FT {ECO:0000250|UniProtKB:Q6ZQE4}. FT REGION 336 405 B; required for interaction with RAN-GTP. FT {ECO:0000250|UniProtKB:Q6ZQE4}. FT MOD_RES 368 368 Phosphoserine. FT {ECO:0000244|PubMed:18669648, FT ECO:0000244|PubMed:18691976}. FT MOD_RES 424 424 Phosphoserine. FT {ECO:0000244|PubMed:24275569}. FT MOD_RES 425 425 Phosphoserine. FT {ECO:0000244|PubMed:24275569}. FT CARBOHYD 125 125 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 110 182 Missing (in isoform 2). FT {ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005}. FT /FTId=VSP_011896. FT VARIANT 217 217 I -> V (in dbSNP:rs17546579). FT /FTId=VAR_057817. FT CONFLICT 442 442 F -> L (in Ref. 4; CAH18250). FT {ECO:0000305}. SQ SEQUENCE 444 AA; 50640 MW; F45D4D3F9B86C77B CRC64; MAGGMKVAVS PAVGPGPWGS GVGGGGTVRL LLILSGCLVY GTAETDVNVV MLQESQVCEK RASQQFCYTN VLIPKWHDIW TRIQIRVNSS RLVRVTQVEN EEKLKELEQF SIWNFFSSFL KEKLNDTYVN VGLYSTKTCL KVEIIEKDTK YSVIVIRRFD PKLFLVFLLG LMLFFCGDLL SRSQIFYYST GMTVGIVASL LIIIFILSKF MPKKSPIYVI LVGGWSFSLY LIQLVFKNLQ EIWRCYWQYL LSYVLTVGFM SFAVCYKYGP LENERSINLL TWTLQLMGLC FMYSGIQIPH IALAIIIIAL CTKNLEHPIQ WLYITCRKVC KGAEKPVPPR LLTEEEYRIQ GEVETRKALE ELREFCNSPD CSAWKTVSRI QSPKRFADFV EGSSHLTPNE VSVHEQEYGL GSIIAQDEIY EEASSEEEDS YSRCPAITQN NFLT //