{ "uniprot_canonical_ac": "A2AX52-1", "ptm_annotation": [ { "annotation": "Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2AX52-1|CO6A4_MOUSE Isoform 1 of Collagen alpha-4(VI) chain OS=Mus musculus OX=10090 GN=Col6a4 PE=1 SV=2 CANONICAL=A2AX52-1", "length": 2309, "sequence": "MGTWKTFWLIISLAAGLGFVKSQRIVCREASVGDIVFLVHNSINPQHAHSVRNFLYILANSLQVGRDNIRVGLAQYSDTPTSEFLLSVYHRKGDVLKHIRGLQFKPGGNRMGQALQFILEHHFREGAGSRASQGVPQVAVVVSSGLTEDHIREPAEALRRAGILVYAIGVKDASQAELREISSSPKDNFTFFVPNFPGLPGLAQKLRPELCSTLGKAAQYTERESPACSEASPADIVFLVDSSTSIGLQNFQKVKHFLHSVVSGLDVRSDQVQVGLVQYSDNIYPAFPLKQSSLKSAVLDRIRNLPYSMGGTSTGSALEFIRANSLTEMSGSRAKDGVPQIVVLVTDGESSDEVQDVADQLKRDGVFVFVVGINIQDVQELQKIANEPFEEFLFTTENFSILQALSGTLLQALCSTVERQMKKSTKTYADVVFLIDTSQGTSQASFQWMQNFISRIIGILEVGQDKYQIGLAQYSDQGHTEFLFNTHKTRNEMVAHIHELLVFQGGSRKTGQGLRFLHRTFFQEAAGSRLLQGVPQYVVVITSGKSEDEVGEVAQILRKRGVDIVSVGLQDFDRAELEGIGPVVLVSDLQGEDRIRQLMLDVNMFIQGSPKPPRVMTDVAKDAVEECLVPVPADLVFLVEDFSSARQPNFQRVVHFLTTTVHSLNIHPDTTRVSLVFYSEKPRLEFSLDMYQSAAQVLRHLDRLTFRARRGRAKAGAALDFLRKEVFLPEKGSRPHRGVQQIAVVIIESPSLDNVSTPASYLRRAGVTIYAAGTQPASESKDLEKIVTYPPWKHAIRLESFLQLSVVGNKLKKKLCPEMLSGMPPLMSFIPESTRQSTQEGCESVEKADIYFLIDGSGSIKPNDFIEMKDFMKEVIKMFHIGPDRVRFGVVQYSDKIISQFFLTQYASMAGLSAAIDNIQQVGGGTTTGKALSKMVPVFQNTARIDVARYLIVITDGQSTDPVAEAAQGLRDIGVNIYAIGVRDANTTELEEIASKKMFFIYEFDSLKSIHQEVIRDICSSENCKSQKADIIFLIDGSESIAPKDFEKMKDFMERMVNQSNIGADEIQIGLLQFSSNPQEEFRLNRYSSKVDMCRAILSVQQMSDGTHTGKALNFTLPFFDSSRGGRPRVHQYLIVITDGVSQDNVAPPAKALRDRNIIIFAIGVGNVQRAQLLEITNDQDKVFQEENFESLQSLEKEILSEVCSSQGCNIDLSVGVDTSTSSERAQQELRRLLPELMQQLAFLSNISCEAPGQMEPRFRYVVPGSSDQPVFDSGFEKYSDETIQKFLVHQGSVNNRMDVDFLQSLGETAIHLSLAKVKVLLVFTDGLDEDLERLRRTSEFLRSRGLSGLLLIGLGGAHKLEELQELEFGRGFAYRQPLSSSLPSLPSVLLKQLDTIVERTCCNMYAKCYGDDGIRGEPGSRGEQGERGLDGLPGHPGEEGDHGQRGPRGLPGLRGEEGCPGVRGPKGARGFSGEKGNPGEEGVGGLDGEQGDRGAAGPSGEKGSSGSRGLTGLPGPAGPRGEPGLRGDPGDPGIDNLIQGPKGEKGRRGHQGSPGFHGPLGEAGSVGPRGSLGRHGLPGLKGVLGETGELGSRGEPGHPGPQGPRGRQGPPGFFGQKGDPGTQGNPGLPGPSGSKGPDGPRGLKGEVGPAGERGPRGQQGPRGQPGLFGPDGHGYPGRKGRKGEPGFPGYPGVQGEDGNPGRGGEKGAKGIRGKRGNSGFPGLAGTPGDQGPPGKMGTKGSKGLADRTPCEIVDFVRGNCPCSTGISRCPAFPTEVVFTLDMSNDVAPSDFERMRNILLSLLMKLEMCESNCPTGARVAIVSYNTRTDYLVRLSDHRGKAALLQAVRKIPLERSSGSRNLGATMRFVARHVFKRVRSGLLVRKVAVFFQAGRNYDTASVSTATLELHAADIATAVVTFTEEHNLPEAGLVDGPNEFHLFTWETEGQQDVERLASCTLCYDKCRPALGCQLRAPGPQKLDMDLVFLVDSSQGVSRDIYLGALRLVDSVLKDLEVAAQPGTSWHGARAALLTHTTPGFWPGVDQAPVLEYFHLTSHGHRTEMQRQIREAASGLLQGGPALGHALEWTLENVLLTAVLPRRSRVLYAIVASETSIWDREKLRTLSQEAKCKGIALFVLAVGPGVGAQELAELAKVASAPWEQHLLRLEGVSEAEVAYASRFTEAFLNLLNSGINQYPPPELVKECGGPNRGDTLLHFFTSAKRFSRSQSGTSAAFANDSEALKSQGIFLGERKSRVASVALQEALGSHGKDRADTEDIDQETPAKGRHLGPTHGPCPMGPEEGECLNYVLK" }, "uniprot_id": "CO6A4_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18276594", "type": [ "PubMed" ], "id": "18276594" } ], "title": "Three novel collagen VI chains with high homology to the alpha 3 chain.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Koch M., Wagener R., Bonaldo P., Grumati P., Urciuolo A., Paulsson M., Gara S.K., Kobbe B.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18400749", "type": [ "PubMed" ], "id": "18400749" } ], "title": "Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI).", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Fitzgerald J, Rich C, Zhou FH, Hansen U", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21057832", "type": [ "PubMed" ], "id": "21057832" } ], "title": "Cloning and characterization of the osteoarthritis-associated gene DVWA.", "journal": "Journal of bone and mineral metabolism", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Nakajima M, Miyamoto Y, Ikegawa S", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21477648", "type": [ "PubMed" ], "id": "21477648" } ], "title": "Differential and restricted expression of novel collagen VI chains in mouse.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Gara SK, Grumati P, Squarzoni S, Sabatelli P, Urciuolo A, Bonaldo P, Paulsson M, Wagener R", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22159717", "type": [ "PubMed" ], "id": "22159717" } ], "title": "The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Naba A, Clauser KR, Hoersch S, Liu H, Carr SA, Hynes RO", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26571399", "type": [ "PubMed" ], "id": "26571399" } ], "title": "A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.", "journal": "The Journal of clinical investigation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ], "authors": "Soret R, Mennetrey M, Bergeron KF, Dariel A, Neunlist M, Grunder F, Faure C, Silversides DW, Pilon N", "date": "2015" } ], "uniprot_ac": "A2AX52", "site_annotation": [ { "end_pos": 1060, "annotation": "n_glycosylation_sequon", "start_pos": 1058 }, { "end_pos": 1116, "annotation": "n_glycosylation_sequon", "start_pos": 1114 }, { "end_pos": 1248, "annotation": "n_glycosylation_sequon", "start_pos": 1246 }, { "end_pos": 190, "annotation": "n_glycosylation_sequon", "start_pos": 188 }, { "end_pos": 2237, "annotation": "n_glycosylation_sequon", "start_pos": 2235 }, { "end_pos": 400, "annotation": "n_glycosylation_sequon", "start_pos": 398 }, { "end_pos": 756, "annotation": "n_glycosylation_sequon", "start_pos": 754 }, { "end_pos": 988, "annotation": "n_glycosylation_sequon", "start_pos": 986 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AX52#A0A1W2P6K8-1", "isoform_ac": "A0A1W2P6K8-1", "locus": { "end_pos": 106000212, "strand": "+", "start_pos": 106013446, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000218471", "id": "ENSMUST00000218471", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000151299", "id": "ENSMUSP00000151299", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1W2P6K8-1|CO6A4_MOUSE Computationally mapped isoform of Collagen alpha-4(VI) chain OS=Mus musculus OX=10090 GN=Col6a4 PE=1 SV=1 CANONICAL=A2AX52-1", "length": 134, "sequence": "XKVAVFFQAGRNYDTASVSTATLELHAADIATAVVTFTEEHNLPEAGLVDGPNEFHLFTWETEGQQDVERLASCTLCYDKCRPALGCQLRAPGPQKLDMDLCALGAAPATPRGCLRGRGGLCQQIHGGLPEPSK" } }, { "url": "https://www.uniprot.org/uniprot/A2AX52#A2AX52-1", "isoform_ac": "A2AX52-1", "locus": { "end_pos": 105990782, "strand": "+", "start_pos": 106082942, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000121963", "id": "ENSMUST00000121963", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000112472", "id": "ENSMUSP00000112472", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AX52-1|CO6A4_MOUSE Isoform 1 of Collagen alpha-4(VI) chain OS=Mus musculus OX=10090 GN=Col6a4 PE=1 SV=2 CANONICAL=A2AX52-1", "length": 2309, "sequence": "MGTWKTFWLIISLAAGLGFVKSQRIVCREASVGDIVFLVHNSINPQHAHSVRNFLYILANSLQVGRDNIRVGLAQYSDTPTSEFLLSVYHRKGDVLKHIRGLQFKPGGNRMGQALQFILEHHFREGAGSRASQGVPQVAVVVSSGLTEDHIREPAEALRRAGILVYAIGVKDASQAELREISSSPKDNFTFFVPNFPGLPGLAQKLRPELCSTLGKAAQYTERESPACSEASPADIVFLVDSSTSIGLQNFQKVKHFLHSVVSGLDVRSDQVQVGLVQYSDNIYPAFPLKQSSLKSAVLDRIRNLPYSMGGTSTGSALEFIRANSLTEMSGSRAKDGVPQIVVLVTDGESSDEVQDVADQLKRDGVFVFVVGINIQDVQELQKIANEPFEEFLFTTENFSILQALSGTLLQALCSTVERQMKKSTKTYADVVFLIDTSQGTSQASFQWMQNFISRIIGILEVGQDKYQIGLAQYSDQGHTEFLFNTHKTRNEMVAHIHELLVFQGGSRKTGQGLRFLHRTFFQEAAGSRLLQGVPQYVVVITSGKSEDEVGEVAQILRKRGVDIVSVGLQDFDRAELEGIGPVVLVSDLQGEDRIRQLMLDVNMFIQGSPKPPRVMTDVAKDAVEECLVPVPADLVFLVEDFSSARQPNFQRVVHFLTTTVHSLNIHPDTTRVSLVFYSEKPRLEFSLDMYQSAAQVLRHLDRLTFRARRGRAKAGAALDFLRKEVFLPEKGSRPHRGVQQIAVVIIESPSLDNVSTPASYLRRAGVTIYAAGTQPASESKDLEKIVTYPPWKHAIRLESFLQLSVVGNKLKKKLCPEMLSGMPPLMSFIPESTRQSTQEGCESVEKADIYFLIDGSGSIKPNDFIEMKDFMKEVIKMFHIGPDRVRFGVVQYSDKIISQFFLTQYASMAGLSAAIDNIQQVGGGTTTGKALSKMVPVFQNTARIDVARYLIVITDGQSTDPVAEAAQGLRDIGVNIYAIGVRDANTTELEEIASKKMFFIYEFDSLKSIHQEVIRDICSSENCKSQKADIIFLIDGSESIAPKDFEKMKDFMERMVNQSNIGADEIQIGLLQFSSNPQEEFRLNRYSSKVDMCRAILSVQQMSDGTHTGKALNFTLPFFDSSRGGRPRVHQYLIVITDGVSQDNVAPPAKALRDRNIIIFAIGVGNVQRAQLLEITNDQDKVFQEENFESLQSLEKEILSEVCSSQGCNIDLSVGVDTSTSSERAQQELRRLLPELMQQLAFLSNISCEAPGQMEPRFRYVVPGSSDQPVFDSGFEKYSDETIQKFLVHQGSVNNRMDVDFLQSLGETAIHLSLAKVKVLLVFTDGLDEDLERLRRTSEFLRSRGLSGLLLIGLGGAHKLEELQELEFGRGFAYRQPLSSSLPSLPSVLLKQLDTIVERTCCNMYAKCYGDDGIRGEPGSRGEQGERGLDGLPGHPGEEGDHGQRGPRGLPGLRGEEGCPGVRGPKGARGFSGEKGNPGEEGVGGLDGEQGDRGAAGPSGEKGSSGSRGLTGLPGPAGPRGEPGLRGDPGDPGIDNLIQGPKGEKGRRGHQGSPGFHGPLGEAGSVGPRGSLGRHGLPGLKGVLGETGELGSRGEPGHPGPQGPRGRQGPPGFFGQKGDPGTQGNPGLPGPSGSKGPDGPRGLKGEVGPAGERGPRGQQGPRGQPGLFGPDGHGYPGRKGRKGEPGFPGYPGVQGEDGNPGRGGEKGAKGIRGKRGNSGFPGLAGTPGDQGPPGKMGTKGSKGLADRTPCEIVDFVRGNCPCSTGISRCPAFPTEVVFTLDMSNDVAPSDFERMRNILLSLLMKLEMCESNCPTGARVAIVSYNTRTDYLVRLSDHRGKAALLQAVRKIPLERSSGSRNLGATMRFVARHVFKRVRSGLLVRKVAVFFQAGRNYDTASVSTATLELHAADIATAVVTFTEEHNLPEAGLVDGPNEFHLFTWETEGQQDVERLASCTLCYDKCRPALGCQLRAPGPQKLDMDLVFLVDSSQGVSRDIYLGALRLVDSVLKDLEVAAQPGTSWHGARAALLTHTTPGFWPGVDQAPVLEYFHLTSHGHRTEMQRQIREAASGLLQGGPALGHALEWTLENVLLTAVLPRRSRVLYAIVASETSIWDREKLRTLSQEAKCKGIALFVLAVGPGVGAQELAELAKVASAPWEQHLLRLEGVSEAEVAYASRFTEAFLNLLNSGINQYPPPELVKECGGPNRGDTLLHFFTSAKRFSRSQSGTSAAFANDSEALKSQGIFLGERKSRVASVALQEALGSHGKDRADTEDIDQETPAKGRHLGPTHGPCPMGPEEGECLNYVLK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:68553", "resource": "KEGG Pathway", "id": "mmu:68553", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "annotation": "Analysis of collagen VI chains alpha4, alpha5, and alpha6with high homology to the alpha3 chain", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2AX52#function", "annotation": "Collagen VI acts as a cell-binding protein.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52#function", "id": "A2AX52", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "annotation": "DVWA is evolutionally very unique, which, together with its specific expression in articular cartilage, suggests its specific role in human cartilage metabolism.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "annotation": "Discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "annotation": "The collagen VI alpha 4 chain is strongly expressed in the intestinal smooth muscle, surrounding the follicles in ovary, and in testis", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1M6H4-1", "protein_name": "Collagen, type VI, alpha 4", "sequence": { "length": 2113, "sequence": "MGTWKTLWLIISFAAGLGFIKSQRTVCREASVGDIVFLVHTNIDPQHAQSVRNFLYILANSLQVGGDNIRVSLALYGDTPTTEFLLSAYPRKGDVLKHIRGLQFKPGGNRMGQSLQFILEHHFPEGAGSRASQGVPQVALVMSTGVAEDHFREPAEALKREGILLYAIGVKDAAQAELREIASSPKDNFTFFVPNFSGLPGLAQKLRPELCTTLAKVVQHTEQGSPACTEAFLADIVFLVDSSTSIGLQNFQKVKNFLHSIVSGLDVRSDQVQVGLVQYSDNIYPAFQLKQSSLKSVVLEQIRNLPYNMGSTNTGSALEFIRANYLTEMSGSRAKDGVPQIVILVTDGESNDEVQDAADQLKRDGVFVYVVGINIQDVQELQKIASEPFEEFLFTTENFNILQELSGSLSQAVCSTVEREMKKCLAPIPTDLVFLVEEFTSAGQPNFQQVIKLLKTTVHSLNIHPDIVRVSLVFYSEKPQLKFSLNTFQNAAQVLTSLDQLTFRARRGRTKAGAALDFLRKEVFLPEKGSRSIWGVQQIAVIIMESPSLDNVSTPASHLRRTGVTIYAVGIQSASESKDLEKIATYPPGKHTIHLESFLQLDVVRKILNKKLCPETLGKMPPVGSMPPGAEMPPGAEMPPGGKMPPLTGCTPQSMQKVCTHVEKADIYFLIDGSGSISPKDFTEMKEFMKDVIKMFHIGPDGVRFGVVQYSDKIISQFLLTQYTSMEKLGTAIGNIQQGGGGTTTGELSKMALVFRNTARTNVAQYLIVITDGQSSDPVADAAQGLRDTGINIYAIGVRDANTTELEEIANNRVFFTDDFHFLKSIHQEVVRDICSFENCRSQKADIIFLIDGSESISSEDFEKIKDFVKRMVNQSNIGADKIQIGLLQFSSTPREEFTLKNNYSSKDEMCRAISNVTQINSGTETGKALNFTLPFFDISQGGRPGVHQYLIVITDGDSHDDIVSPAKALRDRNIIIFAIGVGKIQRAQLLAITNDQDKVYHEENFESLQNLEKEILYEVCTSQGCSMDLSVGVDTSTSSGRAQQELGRFLPGLLQQLALLSNISCEAPGQMEPRFRYVVPGSSSRPVFDSGFEKYNDETVQKFLVQQGSANNRLNVDFLKSLGETAIHSSSANVKVLLVFTDGLDEDLERLRRTSELLRSGGLSGLLVIGLGGAHKLEELQELEFGKGFAYRQPLSSSLPSLPSVLLKQLDTIVEKACCYVCAKCYGDDGVRGDPGSLGKEGERGLDGLPGHPGEDGDHGPRGPRGLPGLRGEEGCPGVRGPKGARGFSGEKGNPGDEGVEGLDGEQGDRGAAGSSGEKGSRGSQGLTGLPGPAGSRGEPGLRGDPGDPGIDNFIQGPKGEKGRRGRQGSSGFHGLLGETGSVGPWGSLGRRGLPGLKGVLGEAGELGYQGEPGYPGPQGPRGRQGPPGSFGQKGDAGAQGNPGPPGPNGSRGTDGPRGLKGELGHTGERGPRGQQGSRGQPGRFGLDGYGHPGRKGKKGEPGFPGYPGLQGEDGNPGRGGEKGAKGIRGKRGSSGFPGFAGTPGDQGPPGKMGIKGPKGLADRTPCEIVDFVRGNCPPCQGISRCPAFPTEVVFALDMSNDVSQSDFERMRNILLSLLMKLEMSESNCPTGARVAIVSYNMRTDYLVRLSDHRGKATLLQAVRKIPLERSSGFRNLGATMKFVARHVFKRVRSGFLVRKVAVFFQVGGNYDATSVNTAMLELHAANIVTAVVTFTEDHNLPDALLVDGLNTFHLFTWETEHQQDVERLVSCTLCYDKCRPAPGCRVESPRPQELDMDLVFLVDSSQGVSRDIYLGALRLVDSVLKDLEVAAQPGTSWHGARVALLTHTTPGFWPGVGQDPVLEYFHLTSHGHRTQMQRQIQEAASGLLQGAPALGHALEWTLEKVLLAAILPRRSQVLFAIVASETSIWDRETLRALSLEAKCKGITLFVLAVGPGVGAQELTELANVASAPSEQHLLRLEGVSEAEVAYASRFTEAFLNLLKSGINQYPPPELNEECGGPNRGDTLLQFFTSAKRLSKPRFGTSAATGYDSGAPKPQDSFLRGKRKIRTLSVAQQETLGSLGRDRADAEETPAKGRRSGAAHGEIPNLVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AX52/", "id": "A2AX52", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "D", "alt_nt": "null", "chr_id": "9", "ref_nt": "T", "chr_pos": "106062889C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36435239", "id": "rs36435239", "database": "dbSNP" }, { "url": "https://www.ensembl.org/id/rs36435239", "id": "rs36435239", "database": "ENSEMBL" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 1281, "keywords": [ "ebi", "germline" ], "end_pos": 1281, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "9", "ref_nt": "T", "chr_pos": "106075424G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29838304", "id": "rs29838304", "database": "dbSNP" }, { "url": "https://www.ensembl.org/id/rs29838304", "id": "rs29838304", "database": "ENSEMBL" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 425, "keywords": [ "ebi", "germline" ], "end_pos": 425, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKT->NKT)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "ac": "NP_081039.2", "name": "collagen alpha-4(VI) chain precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "pmid": "18400749", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "collagen binding", "id": "GO:0005518" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "pmid": "18400749", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "extracellular region", "id": "GO:0005576" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "pmid": "18400749", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "protein-containing complex", "id": "GO:0032991" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "pmid": "22159717", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "collagen-containing extracellular matrix", "id": "GO:0062023" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "collagen trimer", "id": "GO:0005581" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "name": "cell adhesion", "id": "GO:0007155" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AX52", "type": "synonym", "resource": "RefSeq", "name": "1110001D15Rik; AI413310; AU023415; Dv; Dvwa; EG235580; Vw; Vwa6" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AX52", "type": "synonym", "resource": "RefSeq", "name": "Col6a4" }, { "url": "https://www.uniprot.org/uniprot/A2AX52", "type": "recommended", "resource": "UniProtKB", "name": "Col6a4" }, { "url": "https://www.uniprot.org/uniprot/A2AX52", "type": "synonym", "resource": "UniProtKB", "name": "Dvwa" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000032572", "id": "ENSMUSG00000032572", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/68553", "id": "68553", "database": "GeneID" }, { "url": "https://acgg.asia/gpdb2/GPDB0001740", "id": "GPDB0001740", "database": "GlycoProtDB" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002035", "id": "IPR002035", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR008160", "id": "IPR008160", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "id": "IPR036465", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:68553", "id": "mmu:68553", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1915803", "id": "1915803", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/VHQYLIV/", "id": "VHQYLIV", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1049829at2759", "id": "1049829at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00092", "id": "PF00092", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF01391", "id": "PF01391", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2AX52", "id": "PR_A2AX52", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_081039.2", "id": "NP_081039.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AX52", "id": "A2AX52", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "end_pos": 1114, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52#ptm_processing", "id": "A2AX52", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 1114, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "end_pos": 188, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52#ptm_processing", "id": "A2AX52", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 188, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "end_pos": 754, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AX52#ptm_processing", "id": "A2AX52", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 754, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 250798.0, "chemical_mass": 250798.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "name": "Col6a4", "locus": { "end_pos": 105989454, "strand": "-", "start_pos": 106096783, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000032572", "id": "ENSMUSG00000032572", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AX52", "type": "recommended", "resource": "UniProtKB", "name": "Collagen alpha-4(VI) chain" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AX52", "type": "synonym", "resource": "RefSeq", "name": "collagen alpha-4(VI) chain precursor" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AX52", "type": "synonym", "resource": "RefSeq", "name": "double von Willebrand factor A domains; dual von Willebrand factor A domains; collagen alpha-4(VI) chain" } ] }