{ "uniprot_canonical_ac": "A3KMH1-1", "uniprot_ac": "A3KMH1", "uniprot_id": "VWA8_HUMAN", "mass": { "chemical_mass": 214824.0, "monoisotopic_mass": 214824.0 }, "refseq": { "ac": "NP_001009814", "name": "von Willebrand factor A domain-containing protein 8 isoform b precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" }, "gene_names": [ { "name": "VWA8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A3KMH1", "id": "A3KMH1" }, { "name": "KIAA0564; P7BP2; RP97", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814", "id": "NP_001009814" }, { "name": "KIAA0564", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A3KMH1", "id": "A3KMH1" }, { "name": "VWA8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814", "id": "NP_001009814" } ], "protein_names": [ { "name": "von Willebrand factor A domain-containing protein 8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A3KMH1" }, { "name": "P7BP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A3KMH1" }, { "name": "PEX7-binding protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A3KMH1" }, { "name": "von Willebrand factor A domain-containing protein 8 isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814", "id": "NP_001009814" }, { "name": "von Willebrand factor A domain-containing protein 8; PEX7-binding protein 2; Pex7p-binding protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814", "id": "NP_001009814" } ], "function": [ { "annotation": "A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" }, { "database": "PubMed", "id": "32027355", "url": "https://glygen.org/publication/PubMed/32027355" } ] }, { "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": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" }, { "database": "PubMed", "id": "30204880", "url": "https://glygen.org/publication/PubMed/30204880" } ] }, { "annotation": "Exhibits ATPase activity in vitro.", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1#function" }, { "database": "UniProtKB", "id": "Q8CC88", "url": "https://www.uniprot.org/uniprot/Q8CC88#function" } ] }, { "annotation": "Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" }, { "database": "PubMed", "id": "37012052", "url": "https://glygen.org/publication/PubMed/37012052" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" }, { "database": "PubMed", "id": "20663923", "url": "https://glygen.org/publication/PubMed/20663923" }, { "database": "PubMed", "id": "20528957", "url": "https://glygen.org/publication/PubMed/20528957" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs756047468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756047468" }, { "id": "rs756047468", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756047468" }, { "id": "rs756047468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756047468" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "13", "chr_pos": "41701468", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752624412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752624412" }, { "id": "rs752624412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752624412" }, { "id": "rs752624412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752624412" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1142, "end_pos": 1142, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->SMT).", "chr_id": "13", "chr_pos": "41699210", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389665445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389665445" }, { "id": "rs1389665445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1389665445" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1285, "end_pos": 1285, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "13", "chr_pos": "41691332", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1285", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1593698987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1593698987" }, { "id": "rs1593698987", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1593698987" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1290, "end_pos": 1290, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQK->NQT).", "chr_id": "13", "chr_pos": "41690273", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749902028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749902028" }, { "id": "rs749902028", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749902028" }, { "id": "rs749902028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749902028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1353, "end_pos": 1353, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IAS->NAS).", "chr_id": "13", "chr_pos": "41689427", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1327652330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1327652330" }, { "id": "rs1327652330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1327652330" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1483, "end_pos": 1483, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "13", "chr_pos": "41671109", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1483", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A3KMH1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KMH1" }, { "id": "rs777308406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777308406" }, { "id": "rs777308406", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777308406" }, { "id": "rs777308406", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777308406" }, { "id": "rs777308406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777308406" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1495, "end_pos": 1495, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "13", "chr_pos": "41671074", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1495", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A3KMH1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KMH1" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KMH1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A3KMH1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A3KMH1" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "common_name": "Human" } ], "gene": [ { "name": "VWA8", "url": "https://www.uniprot.org/uniprot/A3KMH1", "locus": { "chromosome": "13", "start_pos": 41566835, "end_pos": 41961120, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000102763", "url": "https://www.ensembl.org/id/ENSG00000102763" } ] } } ], "crossref": [ { "id": "ENSG00000102763", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102763", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A3KMH1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A3KMH1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01455", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01455", "database": "CDD", 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"https://www.ebi.ac.uk/interpro/entry/IPR011704", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036465", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039891", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039891", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23078", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23078", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "617509", "url": "http://www.omim.org/entry/617509", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A3KMH1", "url": "https://www.nextprot.org/entry/NX_A3KMH1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A3KMH1", "url": "https://oglcnac.org/atlas/detail/A3KMH1", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "A3KMH1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A3KMH1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GTHIVHP", "url": "https://omabrowser.org/oma/group/GTHIVHP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "37271at2759", "url": "http://www.orthodb.org/?query=37271at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR21610", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21610", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21610:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21610:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07728", "url": "http://pfam.xfam.org/family/PF07728", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A3KMH1", "url": "https://pharos.nih.gov/targets/A3KMH1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A3KMH1", "url": "http://purl.obolibrary.org/obo/PR_A3KMH1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3KMH1-1", "url": "https://www.uniprot.org/uniprot/A3KMH1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3KMH1-2", "url": "https://www.uniprot.org/uniprot/A3KMH1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A3KMH1-3", "url": "https://www.uniprot.org/uniprot/A3KMH1-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV", "length": 1905, "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" }, "isoforms": [ { "isoform_ac": "A3KMH1-1", "url": "", "sequence": { "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV", "length": 1905, "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" }, "locus": { "chromosome": "13", "start_pos": 41961015, "end_pos": 41568200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379310.8", "url": "https://www.ensembl.org/id/ENST00000379310.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000368612.3", "url": "https://www.ensembl.org/id/ENSP00000368612.3" } ] } }, { "isoform_ac": "A3KMH1-2", "url": "", "sequence": { "sequence": "MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNIGDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKE", "length": 1039, "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" }, "locus": { "chromosome": "13", "start_pos": 41961015, "end_pos": 41719590, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000281496.6", "url": "https://www.ensembl.org/id/ENST00000281496.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000281496.6", "url": "https://www.ensembl.org/id/ENSP00000281496.6" } ] } }, { "isoform_ac": "A3KMH1-3", "url": "", "sequence": { "sequence": "MQKDLLGQDVFLIGPPGPLRRSIAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIFIGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV", "length": 1809, "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" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1096, "start_aa": "Asn", "end_pos": 1096, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1096", "evidence": [ { "id": "A3KMH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3KMH1#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1098, "start_aa": "Thr", "end_pos": 1098, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1098", "evidence": [ { "id": "A3KMH1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A3KMH1" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "A3KMH1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A3KMH1" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1142, "start_aa": "Asn", "end_pos": 1142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1142", "evidence": [ { "id": "A3KMH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3KMH1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1833, "start_aa": "Asn", "end_pos": 1833, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1833", "evidence": [ { "id": "A3KMH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3KMH1#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 226, "start_aa": "Ser", "end_pos": 226, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser226", "evidence": [ { "id": "A3KMH1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A3KMH1" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "A3KMH1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A3KMH1" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 284, "start_aa": "Asn", "end_pos": 284, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn284", "evidence": [ { "id": "A3KMH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3KMH1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 855, "start_aa": "Asn", "end_pos": 855, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn855", "evidence": [ { "id": "A3KMH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A3KMH1#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A genome-wide association study of bipolar disorder and comorbid migraine.", "journal": "Genes, brain, and behavior", "date": "2010", "authors": "Oedegaard KJ, Greenwood TA, Johansson S, Jacobsen KK, Halmoy A, Fasmer OB, Akiskal HS, Haavik J, Kelsoe JR", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" } ], "reference": [ { "type": "PubMed", "id": "20528957", "url": "https://glygen.org/publication/PubMed/20528957" } ] }, { "title": "A genome-wide scan for common alleles affecting risk for autism.", "journal": "Human molecular genetics", "date": "2010", "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", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" } ], "reference": [ { "type": "PubMed", "id": "20663923", "url": "https://glygen.org/publication/PubMed/20663923" } ] }, { "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", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "A3KMH1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A3KMH1" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.", "journal": "J. Biochem.", "date": "2018", "authors": "Niwa H, Miyauchi-Nanri Y, Okumoto K, Mukai S, Noi K, Ogura T, Fujiki Y", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" }, { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" } ], "reference": [ { "type": "PubMed", "id": "30204880", "url": "https://glygen.org/publication/PubMed/30204880" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "A3KMH1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A3KMH1" }, { "database": "O-GlcNAc Atlas", "id": "A3KMH1", "url": "https://oglcnac.org/atlas/detail/A3KMH1" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.", "journal": "Journal of biochemistry", "date": "2020", "authors": "Imanaka T, Kawaguchi K", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" } ], "reference": [ { "type": "PubMed", "id": "32027355", "url": "https://glygen.org/publication/PubMed/32027355" } ] }, { "title": "Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.", "journal": "Journal of medical genetics", "date": "2023-10", "authors": "Kong Linghui, Chu Guoming, Ma Wei, Liang Jiajian, Liu Dan, Liu Qiushi, Wei Xiaowei, Jia Shanshan, Gu Hui, He Yiwen, Luo Wenting, Cao Songying, Zhou Xiaomeng, He Rong, Yuan Zhengwei", "evidence": [ { "database": "RefSeq", "id": "NP_001009814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009814" } ], "reference": [ { "type": "PubMed", "id": "37012052", "url": "https://glygen.org/publication/PubMed/37012052" } ] } ], "pathway": [ { "id": "hsa:23078", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23078", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K3W1-1", "protein_name": "von Willebrand factor A domain containing 8", "gene_name": "Vwa8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQSRLLLLGVPGGLGDVASRRVRLLLRQVLRGRPGGGQQRLEVRLMHAGVTDSGETVNIGDVSYKLKTPKNPELVPQNYIAASPSQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSVAMQYLELTKQEVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLVLEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKEELDAWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYFLPFQDQLKLLYSVGANVSAEKISQLLSFATTLCSQESSTLGLPDFPLDSLPEAVQILDSFPMMPIEHAIRWMYPYTVLLGHEGKMAVEGVLKRFELQGSGHSLLPKEIVRVERMTDSHISHAHVTIRVSGKEVTIKVPAGTRAVNQPCAPDRFIQTVSHKQLLAEMMQSHMVKDICLIGGKGCGKTVMAKNFAALLGYSIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVSAAREGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYLCLKERLQLTDEQLQNRSIFPIHPSFRIIALAEPPVVGSTTQQWLGPEFLTMFFFHHMKPLVKSEELQVIKEMVPNVPQEALEKLLSVTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPSENLHDAITKACLSRFLPSLAQSALEKNLADAAIEINADSSLEPELENYKCEVVAGSLKIGTVSAPVHNAHEKMKVPDVLFYDNVQHMVVMEDMLKDFVLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQSLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVADAASVDGRENAIVVHPDFRMVVLANRPGFPFLGNDFFGTLGDIFSCHAIDNPKPHSELEMLKQYGPNVPVPVLEKLVAAFGELRNLADQGIINYPYSTREVVNIVKHLEKFPTEGLSSVVRNVFDFDSYNNDMREILMNTLHKYGIPIGAKPTNVQLAKEFPLPEKTFMGYWIIGQTGNGMQKVLCPAETHRIDIKGPVLVNIEKYPIEKHESRFLNFTEECTSWRFPVDEVNLISDIAVSHENGEHTLYVATCNPISLYFMNMTGENGFFVDFFDIFPRMASGSWRPFVTVAPLGSPLRGQVVLHEEQSNVVLLLDTTGRAIHRLVLPTEESTSKKSSWWNKEEGETYRMCKEFSHKNWVVFYRQTGNSLTVLDVLEGLTHTISLPINLRTVFLVAEDKWLLVENKTNQKCLLTKPAHIGAEDTGACQLYMLKEELPSTGFGVTQETEFYVPHKVSSDQLSSENLTSAVGQKIASPNRILSDEKSHATIVVGFPDLMSPCEVYSWKRSSSLGKPSVTNITMYTGKRTSVTPRHNNCVTLTHTNQVVRILPAGEVPLKDIYPKDVTPPQTAGYIEVTDLQAKKLRYIPVPSAESLSPYTAWLSAISDTDALLAEWDKSSVVTVDMGGCVRLWETGLERLQQSLMEWRNMIGQDSDKHMQITIERDSNEDVSEPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHPVYQVSEVEKDAVPEDIKRAAREMAQRAFQQRLKEIQMSEYDAATYERFSRAVQRQVHALRVILDNLQAKGKERQWLRHQATGELDDAKIIDGLAGEKAIYKRRGDLEPQLGSPQQKPKRLRLVVDVSGSMYRFNGVDRRLERSMEAVCMVMEAFENYEEKFKYDIAGHSGDGYNIKLVPVNKIPKNNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKDITTEEADEYFVIILSDANLSRYGINPARFAQILTSNPQVNAFAIFIGSLGDQAARLQRTLPAGRSFIAMDTKKIPQILQQIFTSTMLSSI", "length": 1905 }, "evidence": [ { "id": "A3KMH1", "url": "https://omabrowser.org/oma/group/A3KMH1/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "M9PHH0-1", "protein_name": "3.6.1.3", "gene_name": "c12.2", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLANLRACSGHLLHHSLRNARIPRRSWASTTAGKDQPEEDSLTIGDVSVRLRKPKDPQLVPQQYADTSRIKETTDLKRRNELKYASDGTLQLSQSALHHLRWMLQKDALRQDMFLLGQPGPLRRQLAMQFLELTQREVEYVALSRDTTESDLKQRREINDRAAIFHDQGAVRAALNGRVLVLDGVEHAERNVLPILNNLLENREMHLESGKFLMSPERYDKLLEKHSREQLDEWGLLRVSEQFRVVALGLPTHKYKGTPLDPPLRSRFQSRNVTTYSYGELYEELQQEAPSVPGEQLKQLLTFALTLQQADPVLQLPDFPIHNLALGVKMLAANPSLSLHDVISRIYPYQTMLKPDQKKRVEELLKKLDIQLVPSPSIKKIEAQSQENSLIHIKLDELQLNLPEGQIPTASTYFVDLPHQRQALASLLQAYAVGDVCLVGEKGVGKLTLTQELLRLLQQTSEPMMLYEDMTSRDIVQQRITSPQGDTVWRDSPLVRAAKSGSVAVLNGLHRLHKSTASVLQRLIHDRELQLCDGTTLLGANRYQALLQQGFSKEELGKLGFLPIHESFRVVALAEPPRLGGGQPSWLTPELLSLFLYQELRPLRQSEEAELLAQLCGGDLPAGMDQLLKLAQLLRSSQDPLLQGLAGTLSTRQLLKLARRLAAYPESELSDVHEMLQNTFLARFMPALSRGALEQAIQQVGIKPREIKLKSKKNQIAVEDNSLRIGSTRWPLGNPTQAQLSKVPHTLFYEMPQHVQLLERLLQDYLIGEHLLLVGNQGVGKNKLVDRLLELMQRPREYIQLHRDTTVHSLTLQATLKDGQVSYEDSALVQAVRTGHVLVVDEADKAPVNVTCILRTLVESGEMVLADGRRIVPPGEGGRVPNSIETHPDFRLIVLANRPGFPFLGNDFFAALGDVFSCHAISNPDPESEIFLLQQYGPKVPIKTLRTLVNAFGELRTLADEGMLNYPYSTREVVSIVKHLERYPEENMSEVVGNVLDFDRYQPEALQQVTQVLAKHGIESYAEEEIQAIRKQRILQASVNRHSGLGVSGPKFGKLDPKNEPHVGGNTWAGGSGGRDTAGLGGKGGPFRLDKGHKVHQLSDEEKADVPEEIKRAAREMNRKAFEDKLKEIKMSAHDHKLYAQFSEPNRKQVQQLKAVLEAMQTKSKERQWQKYQTHGDLDDTRLVEGITGEKNIYRRRAEANPWADHVQEKPNRLKLVVDVSGSMYRFNGYDGRLDRQLEAVVMVMEAFEGFEKKIVYDIIGHSGEGWEIPFVTAGSPPKNDKERFEAIRMMHAHSQFCWSGDSTVKAAREACSTLGAEQDYDNAIVVVLSDANLQRYGIAPKDLAMALKRGEPKVKGYAIFIGSLAEEADEINAEMPAGQSFVCMDLTKLPHILQQIFTSSLL", "length": 1403 }, "evidence": [ { "id": "A3KMH1", "url": "https://omabrowser.org/oma/group/A3KMH1/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8CC88-1", "protein_name": "von Willebrand factor A domain-containing protein 8", "gene_name": "Vwa8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQSRLLLLGAPGGLGDVASRRVRLLLRQVLRGRPGGDQQRLEVRLLHSGATDSGETVSIGDVSYKLKTPKNPELVPQNYISDSPAQSIVQHLRWLMQKDLLGQDVFLIGPPGPLRRSVAMQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLVLEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLQDHTKEELDAWKIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYFLPFQDQLKLLYSVGANVSAEKISQLLSFATTLCSQESSTLGLPDFPLDSLPEAVQILDSFPMMSIEHALQWVYPYTLLLGHEGKMAVEGVLKRFELQGSGHSLLPKEIVRVERMTDSHGSYAHVTIRVAGKEVTIKVPAGTRAVNQPCAPDHFIQTVSHKQLLAEMVQSHMVKDICLIGGKGCGKTVIAKNFAALLGYSIEPIMLYQDMTARDLLQQRYTLPNGDTAWRSSPLVSAAREGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYLSLKEKLQLTDEQLQNRSIFPIHPSFRIIALAEPPIVGSTTQQWLGPEFLTMFFFHHMKPLVKSEEIQVIKETVPNVPQEALEKLLSVTHKLRETQDPTAQSLAASLSTRQLLRISRRLSKYPSENLHDAITKACLSRFLPSLAQSALEKNLADAAIETNTEDSLEPELENYKCEVVAGSLKIGAVSVPVHNAHEKMKVPDVLFYDNVQHMVVMEDMLKDFVLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQSLTLQPTVKGGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVADAANVDGRENLVAIHPDFRMLALANRPGFPFLGNDFFGTLGDIFSCHAIDNPKPHSELSMLKQYGPDVPEPVLQKLVAAFGELRNLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILMNTLHKYGIPIGAKPTNVQLAKEFPLPEKTFMGYWIVGQTGNGMQKVLCPAETNHVDIKGPVLVNMEKYPIEKHEARFLSFTEECTSWKFPLDEVNLICDIAVSHENGEQTLYVAACNPVSLYFMNMTGKNGFFVDFFDIFPRMASGSWRPFVTVAPLGSPLRGQVVLHEEQSNAVLLLDTTGSAIRRLVLPTEEFTSKKSSWWSKEEGETYRMCKEFSHKNWVVFYKQTGNSLTVLDVLEGLAHTISLPINLRTVFLVAEDKWLLVENETNQKYLLTKPAHIGSEDTGACQLYMLKEELPSTGFGVTQETEFCIPDKVSSDQLSSENLTSAVGQKIASPNRILSDENSHATIVVGFPDLMSPSEVYSWKRSSSLRQPSVTSMTMYTGKRTNATPRHNNCVTLTHTNQVVRILPPGEVPLKDLYPKDVTPPQTAGYIEVTDLQAKKLRYIPVPSAESLSPYTAWISAISDTDALLAEWDKSSVVTVDMGGRVRLWETGLERLQQSLMEWRNMIGQDSDKHVQITIERDSNEDVSDPKHGKEDPDNMPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHPVYQVSEVEKDAVPEDVKRAAREMAQKAFQQRLKEIQMSEYDAATYERFSSAVQRQVHALRIILDNLQAKGKERQWLRHQATGELDDAKIIDGLAGEKSIYKRRGDLEPQLGSPQQKPKRLRLVVDVSGSMYRFNGVDRRLERSMEAVCMVMEAFENYEEKFKYDIAGHSGDGYNIKLVPVNQIPKNNKQRLEILKTMHEHSQFCMSGDHTLEGTEHAIKDITTEEADEYFVIILSDANLSRYGINPARFAQILTSDPQVNAFAIFIGSLGDQAARLQRTLPAGRSFIAMDTKKIPQILQQIFTSTMLSSI", "length": 1905 }, "evidence": [ { "id": "45928847", "url": "http://www.informatics.jax.org/homology/45928847", "database": "MGI" }, { "id": "A3KMH1", "url": "https://omabrowser.org/oma/group/A3KMH1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "A3KMH1", "url": "https://www.uniprot.org/uniprot/A3KMH1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1096, "end_pos": 1098, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1142, "end_pos": 1144, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1833, "end_pos": 1835, "annotation": "n_glycosylation_sequon" }, { "start_pos": 284, "end_pos": 286, "annotation": "n_glycosylation_sequon" }, { "start_pos": 855, "end_pos": 857, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 284, 855, 1096, 1142, 1833 ], "o_linked_sites": [ 226, 1098 ], "snv_sites": [ 62, 81, 226, 284, 522, 628, 676, 790, 801, 810, 825, 855, 857, 948, 1096, 1142, 1285, 1290, 1353, 1483, 1495, 1720, 1771, 1833 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1096, "end_pos": 1098 }, { "start_pos": 1142, "end_pos": 1144 }, { "start_pos": 1833, "end_pos": 1835 }, { "start_pos": 284, "end_pos": 286 }, { "start_pos": 855, "end_pos": 857 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 23 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }