{ "uniprot_canonical_ac": "A2AHJ4-1", "uniprot_ac": "A2AHJ4", "uniprot_id": "BRWD3_MOUSE", "mass": { "chemical_mass": 202942.0, "monoisotopic_mass": 202942.0 }, "refseq": { "ac": "NP_001074946", "name": "bromodomain and WD repeat-containing protein 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946" }, "gene_names": [ { "name": "Brwd3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2AHJ4", "id": "A2AHJ4" }, { "name": "Brodl; D030064D06Rik; Gm10452; Gm596", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946", "id": "NP_001074946" }, { "name": "Brwd3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946", "id": "NP_001074946" }, { "name": "Gm596", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2AHJ4", "id": "A2AHJ4" } ], "protein_names": [ { "name": "Bromodomain and WD repeat-containing protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A2AHJ4" }, { "name": "bromo domain-containing protein disrupted in leukemia", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946", "id": "NP_001074946" }, { "name": "bromodomain and WD repeat-containing protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946", "id": "NP_001074946" } ], "function": [ { "annotation": "Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4#function" } ] } ], "disease": [ { "disease_id": "DOID:0112045", "recommended_name": { "id": "DOID:0112045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112045", "name": "non-syndromic X-linked intellectual disability 93", "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1." }, "synonyms": [ { "id": "DOID:0112045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112045", "name": "MRX93", "description": "" }, { "id": "DOID:0112045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112045", "name": "X-linked mental retardation 93", "description": "" }, { "id": "DOID:0112045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112045", "name": "X-linked mental retardation with macrocephaly", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "intellectual disability, X-linked 93", "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "BRWD3 non-syndromic X-linked intellectual disability", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "intellectual developmental disorder, X-linked 93, X-linked recessive", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "intellectual disability, X-linked 93", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "intellectual disability, X-linked type 93", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "mental retardation, X-linked type 93", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "non-syndromic X-linked intellectual disability caused by mutation in BRWD3", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "MRX93", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "intellectual disability, X-linked, with macrocephaly", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "mental retardation, X-linked 93", "description": "" }, { "id": "MONDO:0010393", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010393", "name": "mental retardation, X-linked, with macrocephaly", "description": "" }, { "id": "MIM:300659", "resource": "MIM", "url": "https://www.omim.org/entry/300659", "name": "Intellectual developmental disorder, X-linked 93", "description": "Intellectual developmental disorder, X-linked 93" } ], "evidence": [ { "id": "0112045", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112045" } ] } ], "snv": [ { "evidence": [ { "id": "rs3411483128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411483128" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFT->NFT).", "chr_id": "X", "chr_pos": "107841690", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3389587283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389587283" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 847, "end_pos": 847, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "X", "chr_pos": "107813354", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S847", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Brwd3", "url": "https://www.uniprot.org/uniprot/A2AHJ4", "locus": { "chromosome": "X", "start_pos": 107780622, "end_pos": 107877978, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000063663", "url": "https://www.ensembl.org/id/ENSMUSG00000063663" } ] } } ], "crossref": [ { "id": "ENSMUSG00000063663", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000063663", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00200", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00200", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd05529", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05529", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "382236", "url": "https://www.ncbi.nlm.nih.gov/gene/382236", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "A2AHJ4", "url": "https://www.ebi.ac.uk/intact/interactors/id:A2AHJ4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001487", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001487", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036427", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036427", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:382236", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:382236", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "3029414", "url": "http://www.informatics.jax.org/marker/MGI:3029414", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "A2AHJ4", "url": "https://oglcnac.org/atlas/detail/A2AHJ4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A2AHJ4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHJ4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TVVTSWK", "url": "https://omabrowser.org/oma/group/TVVTSWK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "24713at2759", "url": "http://www.orthodb.org/?query=24713at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR16266", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16266", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR16266:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR16266:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00439", "url": "http://pfam.xfam.org/family/PF00439", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A2AHJ4", "url": "http://purl.obolibrary.org/obo/PR_A2AHJ4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001074946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074946", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AHJ4-1", "url": "https://www.uniprot.org/uniprot/A2AHJ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AHJ4-2", "url": "https://www.uniprot.org/uniprot/A2AHJ4-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AHJ4-3", "url": "https://www.uniprot.org/uniprot/A2AHJ4-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3UXF9", "url": "https://www.uniprot.org/uniprot/G3UXF9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3UXF9-1", "url": "https://www.uniprot.org/uniprot/G3UXF9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3UZT0", "url": "https://www.uniprot.org/uniprot/G3UZT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3UZT0-1", "url": "https://www.uniprot.org/uniprot/G3UZT0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFSHVFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTTRYLTSTGADGTICFWQWHVKTMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEIPEKIAELESHTDKVVAVQFCNNGDSLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMSGNNLTSAEDKVTKLKVTMVAWDRYDTTVITAVNNFLLKVWNSVTGQLLHTLSGHDDEVFVLEAHPFDQRIILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLFGFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKFQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQEESILDGIIRELQREQDLRLINEGDVPHFPINRSYSVNGALSSPNMDIPSSPNIGLRRSGQIEGVRQMHNNAPRSQMATERDLMAWSRRVVVNELNSGVSRVQEECRNAKGDLEVSLYTVEKKKKPSYPIQRNDYQPSCGRSLRRTQRKRQHTYLTRSNIEHNSQASSQTSGVQEDSDSSSEEDETVGTSDASVEDPVVEWQSESSSSDSSSEYSDWIADAGINLQPPKRQTRQATQKIYSSSEDENLKLEDRQKKPKQTKKKKGGLVSMAGEPNEEWLAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAVRKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEIGPPTLCCLKLAFLDPISGKMTGESFSIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDSSFQCYSVHWDNNEREKMSPWDMEPIPDGTAFPDEVGAGIPVSQEELTALLYKPQEGEWGAHSRDEECERVIQGINNLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIKQRLENRFYRRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCSDILDTYNKIKAEDPDSSDLEEDSEMVDLDSDGPGTSSGRRAKCRGRRQSLKCNPDAWKKQCEELLSLIYEREDSEPFRQPADPQSYPVQQQQEGESSQSVPPDRQDPSLSEDYQDGIDTPMDFSTVKETLESGNYDSPLEFYKDVRQIFSNSKAYTSNKKSRIYSMTLRLSALFENHIKNIISDYKSAIQSQKRRRPRYRKRLRSSSSSLSSSRAPSPKGKQKQMKLQPKNDQNTSVAYARTSSPFSSPVSDAAEGVSLYLLDDEGDGPFSPSSFSGYSRSGNSHDPGKAKSFRNRVLPAKQDHSLDGPLTNVDGREPRTGAKRKLLSASEEDESMGGEEKEMKETKEQVHLSSSESGELGSSLSSESTSGSDSDSESTSRTDQDYVDGDHDYSKFIQTRPKRKLRKQHTNGKRNWKTRGTGGRGRWGRWGRWSRGGRGRGGRGRGGRGRGGGGGRGRGRGRGGRGASRGSSRAKRARVADDEFDTMFSGRFSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGWNY", "length": 1799, "header": "sp|A2AHJ4-1|BRWD3_MOUSE Isoform 1 of Bromodomain and WD repeat-containing protein 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "isoforms": [ { "isoform_ac": "A2AHJ4-1", "url": "", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFSHVFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTTRYLTSTGADGTICFWQWHVKTMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEIPEKIAELESHTDKVVAVQFCNNGDSLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMSGNNLTSAEDKVTKLKVTMVAWDRYDTTVITAVNNFLLKVWNSVTGQLLHTLSGHDDEVFVLEAHPFDQRIILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLFGFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKFQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQEESILDGIIRELQREQDLRLINEGDVPHFPINRSYSVNGALSSPNMDIPSSPNIGLRRSGQIEGVRQMHNNAPRSQMATERDLMAWSRRVVVNELNSGVSRVQEECRNAKGDLEVSLYTVEKKKKPSYPIQRNDYQPSCGRSLRRTQRKRQHTYLTRSNIEHNSQASSQTSGVQEDSDSSSEEDETVGTSDASVEDPVVEWQSESSSSDSSSEYSDWIADAGINLQPPKRQTRQATQKIYSSSEDENLKLEDRQKKPKQTKKKKGGLVSMAGEPNEEWLAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAVRKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEIGPPTLCCLKLAFLDPISGKMTGESFSIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDSSFQCYSVHWDNNEREKMSPWDMEPIPDGTAFPDEVGAGIPVSQEELTALLYKPQEGEWGAHSRDEECERVIQGINNLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIKQRLENRFYRRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCSDILDTYNKIKAEDPDSSDLEEDSEMVDLDSDGPGTSSGRRAKCRGRRQSLKCNPDAWKKQCEELLSLIYEREDSEPFRQPADPQSYPVQQQQEGESSQSVPPDRQDPSLSEDYQDGIDTPMDFSTVKETLESGNYDSPLEFYKDVRQIFSNSKAYTSNKKSRIYSMTLRLSALFENHIKNIISDYKSAIQSQKRRRPRYRKRLRSSSSSLSSSRAPSPKGKQKQMKLQPKNDQNTSVAYARTSSPFSSPVSDAAEGVSLYLLDDEGDGPFSPSSFSGYSRSGNSHDPGKAKSFRNRVLPAKQDHSLDGPLTNVDGREPRTGAKRKLLSASEEDESMGGEEKEMKETKEQVHLSSSESGELGSSLSSESTSGSDSDSESTSRTDQDYVDGDHDYSKFIQTRPKRKLRKQHTNGKRNWKTRGTGGRGRWGRWGRWSRGGRGRGGRGRGGRGRGGGGGRGRGRGRGGRGASRGSSRAKRARVADDEFDTMFSGRFSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGWNY", "length": 1799, "header": "sp|A2AHJ4-1|BRWD3_MOUSE Isoform 1 of Bromodomain and WD repeat-containing protein 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "locus": { "chromosome": "X", "start_pos": 107877735, "end_pos": 107786625, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000150434", "url": "https://www.ensembl.org/id/ENSMUST00000150434" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000123588", "url": "https://www.ensembl.org/id/ENSMUSP00000123588" } ] } }, { "isoform_ac": "A2AHJ4-2", "url": "", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFSHVFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQVRIMISSLPG", "length": 281, "header": "sp|A2AHJ4-2|BRWD3_MOUSE Isoform 2 of Bromodomain and WD repeat-containing protein 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "locus": {} }, { "isoform_ac": "A2AHJ4-3", "url": "", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVGFFFVALTVLELYVDQAGLCLSSAGIKVVCHMTSYITF", "length": 181, "header": "sp|A2AHJ4-3|BRWD3_MOUSE Isoform 3 of Bromodomain and WD repeat-containing protein 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "locus": { "chromosome": "X", "start_pos": 107877735, "end_pos": 107864809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000101283", "url": "https://www.ensembl.org/id/ENSMUST00000101283" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000098841", "url": "https://www.ensembl.org/id/ENSMUSP00000098841" } ] } }, { "isoform_ac": "G3UXF9-1", "url": "", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDL", "length": 60, "header": "tr|G3UXF9-1|G3UXF9_MOUSE Computationally mapped isoform of Bromodomain and WD repeat domain containing 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "locus": { "chromosome": "X", "start_pos": 107877735, "end_pos": 107876820, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000144521.8", "url": "https://www.ensembl.org/id/ENSMUST00000144521.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000133674.2", "url": "https://www.ensembl.org/id/ENSMUSP00000133674.2" } ] } }, { "isoform_ac": "G3UZT0-1", "url": "", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLTVRVHYGMGLLLQPSTEADPQNYL", "length": 84, "header": "tr|G3UZT0-1|G3UZT0_MOUSE Computationally mapped isoform of Bromodomain and WD repeat domain containing 3 OS=Mus musculus OX=10090 GN=Brwd3 PE=1 SV=1 CANONICAL=A2AHJ4-1" }, "locus": { "chromosome": "X", "start_pos": 107877735, "end_pos": 107868439, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000041866.12", "url": "https://www.ensembl.org/id/ENSMUST00000041866.12" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000134621.2", "url": "https://www.ensembl.org/id/ENSMUSP00000134621.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 264, "start_aa": "Ser", "end_pos": 264, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser264", "evidence": [ { "id": "A2AHJ4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHJ4" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "A2AHJ4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AHJ4" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 279, "start_aa": "Thr", "end_pos": 279, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr279", "evidence": [ { "id": "A2AHJ4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHJ4" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "A2AHJ4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AHJ4" } ] } ], "phosphorylation": [ { "start_pos": 1574, "end_pos": 1574, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "site_lbl": "Ser1574" }, { "start_pos": 1576, "end_pos": 1576, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHJ4" } ], "site_lbl": "Ser1576" }, { "start_pos": 1760, "end_pos": 1760, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHJ4" } ], "site_lbl": "Ser1760" }, { "start_pos": 693, "end_pos": 693, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "site_lbl": "Ser693" }, { "start_pos": 884, "end_pos": 884, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHJ4" } ], "site_lbl": "Ser884" }, { "start_pos": 885, "end_pos": 885, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AHJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHJ4" } ], "site_lbl": "Ser885" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "date": "2010", "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" }, { "database": "iPTMnet", "id": "A2AHJ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AHJ4" } ], "reference": [ { "type": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "title": "O-GlcNAcylation site mapping by (azide-alkyne) click chemistry and mass spectrometry following intensive fractionation of skeletal muscle cells proteins.", "journal": "Journal of proteomics", "date": "2018", "authors": "Deracinois B, Camoin L, Lambert M, Boyer JB, Dupont E, Bastide B, Cieniewski-Bernard C", "evidence": [ { "database": "O-GlcNAc Database", "id": "A2AHJ4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AHJ4" }, { "database": "O-GlcNAc Atlas", "id": "A2AHJ4", "url": "https://oglcnac.org/atlas/detail/A2AHJ4" } ], "reference": [ { "type": "PubMed", "id": "30016717", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ], "pathway": [ { "id": "mmu:382236", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:382236", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6RI45-1", "protein_name": "Bromodomain and WD repeat-containing protein 3", "gene_name": "BRWD3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKICERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSARQLTGCSRFGHIFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEISDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTNRYLTSTGADGTICFWQWHVKTMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEVPEKIAELESHTDKVVAVQFCNNGDSLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMTGNNLPSGEDKITKLKVTMVAWDRYDTTVITAVNNFLLKVWNSITGQLLHTLSGHDDEVFVLEAHPFDQRIILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDGNHFACTDSHGHLLLFGFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKFQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQDESILDGIIRELQREQDLRLINEGDVPHLPVNRAYSVNGALRSPNMDISSSPNIRLRRHSSQIEGVRQMHNNAPRSQMATERDLMAWSRRVVVNELNNGVSRVQEECRTAKGDIEISLYTVEKKKKPSYTTQRNDYEPSCGRSLRRTQRKRQHTYQTRSNIEHNSQASCQNSGVQEDSDSSSEEDETVGTSDASVEDPVVEWQSESSSSDSSSEYSDWTADAGINLQPPKRQTRQTTRKICSSSDEENLKSLEERQKKPKQTRKKKGGLVSIAGEPNEEWFAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAVRKSKIYSVNLQKQPWNKMDLREQEFVKIVGIKYEVGPPTLCCLKLAFLDPISGKMTGESFSIKYHDMPDVIDFLVLHQFYNEAKERNWQIGDRFRSIIDDAWWFGTVESQQPFQPEYPDSSFQCYSVHWDNNEREKMSPWDMEPIPEGTAFPDEVGAGVPVSQEELTALLYKPQEGEWGAHSRDEECERVIQGINHLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIRRRLENRFYRRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCTDILDTYNKIKAEERNSTDAEEDTEIVDLDSDGPGTSSGRKVKCRGRRQSLKCNPDAWKKQCKELLSLIYEREDSEPFRQPADLLSYPGHQEQEGESSESVVPERQQDSSLSEDYQDVIDTPVDFSTVKETLEAGNYGSPLEFYKDVRQIFNNSKAYTSNKKSRIYSMMLRLSALFESHIKNIISEYKSAIQSQKRRRPRYRKRLRSSSSSLSSSGAPSPKGKQKQMKLQPKNDQNTSVSHARTSSPFSSPVSDAAEGLSLYLLDDEPDGPFSSSSFGGYSRSGNSHDPGKAKSFRNRVLPVKQDHSLDGPLTNGDGREPRTGIKRKLLSASEEDENMGGEDKEKKETKEKSHLSTSESGELGSSLSSESTCGSDSDSESTSRTDQDYVDGDHDYSKFIQTRPKRKLRKQHGNGKRNWKTRGTGGRGRWGRWGRWSRGGRGRGGRGRGSRGRGGGGTRGRGRGRGGRGASRGATRAKRARIADDEFDTMFSGRFSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGWNY", "length": 1802 }, "evidence": [ { "id": "45238488", "url": "http://www.informatics.jax.org/homology/45238488", "database": "MGI" }, { "id": "A2AHJ4", "url": "https://omabrowser.org/oma/group/A2AHJ4/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "A2AHJ4", "url": "https://www.uniprot.org/uniprot/A2AHJ4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 118, "end_pos": 120, "annotation": "n_glycosylation_sequon" }, { "start_pos": 145, "end_pos": 147, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1480, "end_pos": 1482, "annotation": "n_glycosylation_sequon" }, { "start_pos": 26, "end_pos": 28, "annotation": "n_glycosylation_sequon" }, { "start_pos": 413, "end_pos": 415, "annotation": "n_glycosylation_sequon" }, { "start_pos": 674, "end_pos": 676, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }