{ "uniprot_canonical_ac": "A3KMH1-1", "ptm_annotation": [], "sequence": { "header": "sp|A3KMH1-1|VWA8_HUMAN Isoform 1 of von Willebrand factor A domain-containing protein 8 OS=Homo sapiens OX=9606 GN=VWA8 PE=1 SV=2 CANONICAL=A3KMH1-1", "length": 1905, "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV" }, "uniprot_id": "VWA8_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly", "reported_with_glycan.oglcnac_db" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1", "id": "A3KMH1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20528957", "type": [ "PubMed" ], "id": "20528957" } ], "title": "A genome-wide association study of bipolar disorder and comorbid migraine.", "journal": "Genes, brain, and behavior", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ], "authors": "Oedegaard KJ, Greenwood TA, Johansson S, Jacobsen KK, Halmoy A, Fasmer OB, Akiskal HS, Haavik J, Kelsoe JR", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20663923", "type": [ "PubMed" ], "id": "20663923" } ], "title": "A genome-wide scan for common alleles affecting risk for autism.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ], "authors": "Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25006744", "type": [ "PubMed" ], "id": "25006744" } ], "title": "Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.", "journal": "American journal of respiratory and critical care medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ], "authors": "Castaldi PJ, Cho MH, San Jose Estepar R, McDonald ML, Laird N, Beaty TH, Washko G, Crapo JD, Silverman EK", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28414126", "type": [ "PubMed" ], "id": "28414126" } ], "title": "Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8).", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ], "authors": "Luo M, Mengos AE, Ma W, Finlayson J, Bustos RZ, Xiao Zhu Y, Shi CX, Stubblefield TM, Willis WT, Mandarino LJ", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", "type": [ "PubMed" ], "id": "28510447" } ], "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30204880", "type": [ "PubMed" ], "id": "30204880" } ], "title": "A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.", "journal": "J. Biochem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1", "id": "A3KMH1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ], "authors": "Fujiki Y., Ogura T., Niwa H., Mukai S., Okumoto K., Miyauchi-Nanri Y., Noi K.", "date": "2018" } ], "uniprot_ac": "A3KMH1", "site_annotation": [ { "end_pos": 1098, "annotation": "n_glycosylation_sequon", "start_pos": 1096 }, { "end_pos": 1144, "annotation": "n_glycosylation_sequon", "start_pos": 1142 }, { "end_pos": 1835, "annotation": "n_glycosylation_sequon", "start_pos": 1833 }, { "end_pos": 286, "annotation": "n_glycosylation_sequon", "start_pos": 284 }, { "end_pos": 857, "annotation": "n_glycosylation_sequon", "start_pos": 855 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1#A3KMH1-1", "isoform_ac": "A3KMH1-1", "locus": { "end_pos": 41568200, "strand": "+", "start_pos": 41961015, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000379310", "id": "ENST00000379310", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000368612", "id": "ENSP00000368612", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A3KMH1-1|VWA8_HUMAN Isoform 1 of von Willebrand factor A domain-containing protein 8 OS=Homo sapiens OX=9606 GN=VWA8 PE=1 SV=2 CANONICAL=A3KMH1-1", "length": 1905, "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV" } }, { "url": "https://www.uniprot.org/uniprot/A3KMH1#A3KMH1-2", "isoform_ac": "A3KMH1-2", "locus": { "end_pos": 41719590, "strand": "+", "start_pos": 41961015, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000281496", "id": "ENST00000281496", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000281496", "id": "ENSP00000281496", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A3KMH1-2|VWA8_HUMAN Isoform 2 of von Willebrand factor A domain-containing protein 8 OS=Homo sapiens OX=9606 GN=VWA8 PE=1 SV=2 CANONICAL=A3KMH1-1", "length": 1039, "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKE" } }, { "url": "https://www.uniprot.org/uniprot/A3KMH1#A3KMH1-3", "isoform_ac": "A3KMH1-3", "locus": {}, "sequence": { "header": "sp|A3KMH1-3|VWA8_HUMAN Isoform 3 of von Willebrand factor A domain-containing protein 8 OS=Homo sapiens OX=9606 GN=VWA8 PE=1 SV=2 CANONICAL=A3KMH1-1", "length": 1872, "sequence": "GTPLDPRAPSPSPTAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23078", "resource": "KEGG Pathway", "id": "hsa:23078", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "annotation": "Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A3KMH1#function", "annotation": "Exhibits ATPase activity in vitro.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1#function", "id": "A3KMH1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814.1", "id": "NP_001009814.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8CC88-1", "protein_name": "von Willebrand factor A domain-containing protein 8", "sequence": { "length": 1905, "sequence": "MQSRLLLLGAPGGLGDVASRRVRLLLRQVLRGRPGGDQQRLEVRLLHSGATDSGETVSIGDVSYKLKTPKNPELVPQNYISDSPAQSIVQHLRWLMQKDLLGQDVFLIGPPGPLRRSVAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLVLEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLQDHTKEELDAWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYFLPFQDQLKLLYSVGANVSAEKISQLLSFATTLCSQESSTLGLPDFPLDSLPEAVQILDSFPMMSIEHALQWVYPYTLLLGHEGKMAVEGVLKRFELQGSGHSLLPKEIVRVERMTDSHGSYAHVTIRVAGKEVTIKVPAGTRAVNQPCAPDHFIQTVSHKQLLAEMVQSHMVKDICLIGGKGCGKTVIAKNFAALLGYSIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVSAAREGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYLSLKEKLQLTDEQLQNRSIFPIHPSFRIIALAEPPIVGSTTQQWLGPEFLTMFFFHHMKPLVKSEEIQVIKETVPNVPQEALEKLLSVTHKLRETQDPTAQSLAASLSTRQLLRISRRLSKYPSENLHDAITKACLSRFLPSLAQSALEKNLADAAIETNTEDSLEPELENYKCEVVAGSLKIGAVSVPVHNAHEKMKVPDVLFYDNVQHMVVMEDMLKDFVLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQSLTLQPTVKGGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVADAANVDGRENLVAIHPDFRMLALANRPGFPFLGNDFFGTLGDIFSCHAIDNPKPHSELSMLKQYGPDVPEPVLQKLVAAFGELRNLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILMNTLHKYGIPIGAKPTNVQLAKEFPLPEKTFMGYWIVGQTGNGMQKVLCPAETNHVDIKGPVLVNMEKYPIEKHEARFLSFTEECTSWKFPLDEVNLICDIAVSHENGEQTLYVAACNPVSLYFMNMTGKNGFFVDFFDIFPRMASGSWRPFVTVAPLGSPLRGQVVLHEEQSNAVLLLDTTGSAIRRLVLPTEEFTSKKSSWWSKEEGETYRMCKEFSHKNWVVFYKQTGNSLTVLDVLEGLAHTISLPINLRTVFLVAEDKWLLVENETNQKYLLTKPAHIGSEDTGACQLYMLKEELPSTGFGVTQETEFCIPDKVSSDQLSSENLTSAVGQKIASPNRILSDENSHATIVVGFPDLMSPSEVYSWKRSSSLRQPSVTSMTMYTGKRTNATPRHNNCVTLTHTNQVVRILPPGEVPLKDLYPKDVTPPQTAGYIEVTDLQAKKLRYIPVPSAESLSPYTAWISAISDTDALLAEWDKSSVVTVDMGGRVRLWETGLERLQQSLMEWRNMIGQDSDKHVQITIERDSNEDVSDPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHPVYQVSEVEKDAVPEDVKRAAREMAQKAFQQRLKEIQMSEYDAATYERFSSAVQRQVHALRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLAGEKSIYKRRGDLEPQLGSPQQKPKRLRLVVDVSGSMYRFNGVDRRLERSMEAVCMVMEAFENYEEKFKYDIAGHSGDGYNIKLVPVNQIPKNNKQRLEILKTMHEHSQFCMSGDHTLEGTEHAIKDITTEEADEYFVIILSDANLSRYGINPARFAQILTSDPQVNAFAIFIGSLGDQAARLQRTLPAGRSFIAMDTKKIPQILQQIFTSTMLSSI" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/44881", "id": "44881", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A3KMH1/", "id": "A3KMH1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Vwa8", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "R", "start_pos": 1000, "alt_nt": "A", "chr_id": "13", "ref_nt": "G", "chr_pos": "42293845", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } }, { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KMH1", "id": "A3KMH1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "*", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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"sequence_org": "T", "alt_nt": "null", "chr_id": "13", "ref_nt": "T", "chr_pos": "41671109G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327652330", "id": "rs1327652330", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327652330", "id": "rs1327652330", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 1483, "keywords": [ "ebi", "germline" ], "end_pos": 1483, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIS->NIS)." }, { "sequence_org": "D", "start_pos": 1495, "alt_nt": "T", "chr_id": "13", "ref_nt": "C", "chr_pos": "42245210", "disease": [ { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": 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"http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102763", "id": "ENSG00000102763", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1", "name": "VWA8", "locus": { "end_pos": 41566837, "strand": "-", "start_pos": 41961120, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000102763", "id": "ENSG00000102763", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A3KMH1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "P7BP2" }, { "url": "https://www.uniprot.org/uniprot/A3KMH1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "PEX7-binding protein 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KMH1", "type": "synonym", "resource": "RefSeq", "name": "von Willebrand factor A domain-containing protein 8 isoform b precursor" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A3KMH1", "type": "synonym", "resource": "RefSeq", "name": "von Willebrand factor A domain-containing protein 8; PEX7-binding protein 2" }, { "url": "https://www.uniprot.org/uniprot/A3KMH1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "von Willebrand factor A domain-containing protein 8" } ] }