{ "uniprot_canonical_ac": "A2PYH4-1", "sequence": { "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 1435, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF" }, "uniprot_id": "HFM1_HUMAN", "enzyme_annotation": [ { "ec": "3.6.4.12", "activity": "" }, { "ec": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate." } ], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26679638", "type": "PUBMED", "id": "26679638" } ], "title": "Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Pu D, Wang C, Cao J, Shen Y, Jiang H, Liu J, Wu BL, Zhang W, Wu J", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23555294", "type": "PUBMED", "id": "23555294" } ], "title": "Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Guiraldelli MF, Eyster C, Wilkerson JL, Dresser ME, Pezza RJ", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17286053", "type": "PUBMED", "id": "17286053" } ], "title": "HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.", "journal": "DNA Seq.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Tanaka K., Miyamoto N., Ikeda J.E., Shouguchi-Miyata J.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24597873", "type": "PUBMED", "id": "24597873" } ], "title": "Mutations in HFM1 in recessive primary ovarian insufficiency.", "journal": "N. Engl. J. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Jiang H., Lin C., Shao H., Shen Y., Wang J., Wang J.', Wu J., Yu L., Zhang M., Zhang W., An Y., Zhou W., Wu B., Shen X., Song X., Wu B.L., Zhang W.', Grimmett L., Jiang H.', Jiang H.'', Liao E., Platt O., Pu D., Shen Y.', Wu B.L.', Wu B.L.'', Wu B.L.''', Zhang W.'', Zhang W.'''", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20800603", "type": "PUBMED", "id": "20800603" } ], "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "journal": "Mutation research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ], "authors": "Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S, Nebel A", "date": "2010" } ], "uniprot_ac": "A2PYH4", "site_annotation": [ { "end_pos": 1374, "annotation": "n_glycosylation_sequon", "start_pos": 1372 }, { "end_pos": 1392, "annotation": "n_glycosylation_sequon", "start_pos": 1390 }, { "end_pos": 1230, "annotation": "n_glycosylation_sequon", "start_pos": 1228 }, { "end_pos": 446, "annotation": "n_glycosylation_sequon", "start_pos": 444 }, { "end_pos": 207, "annotation": "n_glycosylation_sequon", "start_pos": 205 }, { "end_pos": 505, "annotation": "n_glycosylation_sequon", "start_pos": 503 }, { "end_pos": 1202, "annotation": "n_glycosylation_sequon", "start_pos": 1200 } ], "mutation": [ { "sequence_org": "T", "start_pos": 1132, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1132, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "V", "start_pos": 1063, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "L", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1063, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%)." }, { "sequence_org": "L", "start_pos": 696, "subjects_positive": "2", "disease": [ { "synonyms": [ { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "R", "subjects_tested": "191", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 696, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(2.0%)." }, { "sequence_org": "R", "start_pos": 841, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "" } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "" } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "W", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 841, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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(2.0%)." }, { "sequence_org": "Y", "start_pos": 988, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "C", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 988, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4#H0Y3X7-1", "isoform_ac": "H0Y3X7-1", "locus": { "end_pos": 91262239, "start_pos": 91347449, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430465", "id": "ENST00000430465", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000387661", "id": "ENSP00000387661", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y3X7-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 625, "sequence": "XIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRCITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFR" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-2", "isoform_ac": "A2PYH4-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2PYH4-2|HFM1_HUMAN Isoform 2 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 551, "sequence": "MDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISVLFHHMRCRIFLYQILLCPSSVHPP" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-1", "isoform_ac": "A2PYH4-1", "locus": { "end_pos": 91261293, "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000370425", "id": "ENST00000370425", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000359454", "id": "ENSP00000359454", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1", "length": 1435, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQ07-1", "isoform_ac": "C9JQ07-1", "locus": { "end_pos": 91385615, "start_pos": 91401069, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427444", "id": "ENST00000427444", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000388900", "id": "ENSP00000388900", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JQ07-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 196, "sequence": "MIACFLWKICFLKNQMKLKSQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKA" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQP7-1", "isoform_ac": "C9JQP7-1", "locus": { "end_pos": 91394173, "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000455133", "id": "ENST00000455133", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000409827", "id": "ENSP00000409827", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JQP7-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 138, "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAP" } }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JA44-1", "isoform_ac": "C9JA44-1", "locus": { "end_pos": 91380234, "start_pos": 91401082, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000448819", "id": "ENST00000448819", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000397369", "id": "ENSP00000397369", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JA44-1|HFM1_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1", "length": 151, "sequence": "MLKSNDCLFSLENLFFEKPDEVEKLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "resource": "KEGG Pathway", "id": "hsa:164045", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "HHFM1 is the evolutionally conserved putative human DNA helicase, which may function as a modulator for genome integrity in germ-line tissues.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2PYH4#function", "annotation": "Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4#function", "id": "A2PYH4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Data suggest that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Exome sequencing of two Chinese sisters with primary ovarian insufficiency and their parents identified a shared compound heterozygous mutation in a meiotic gene, HFM1, which encodes a protein necessary for homologous recombination of chromosomes.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "ac": "NP_001017975.4", "name": "probable ATP-dependent DNA helicase HFM1", "summary": "The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "nucleic acid binding", "id": "GO:0003676" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "DNA helicase activity", "id": "GO:0003678" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "resolution of meiotic recombination intermediates", "id": "GO:0000712" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "type": "recommended", "resource": "uniprotkb", "name": "HFM1" }, { "type": "synonym", "resource": "uniprotkb", "name": "SEC3D1" }, { "type": "synonym", "resource": "refseq", "name": "helicase; MER3; POF9; SEC63D1; Si-11; Si-11-6" }, { "type": "synonym", "resource": "refseq", "name": "HFM1" } ], "crossref": [ { "url": "http://pfam.xfam.org/family/PF02889", "id": "PF02889", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2PYH4", "id": "A2PYH4", "database": "PHAROS" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/164045", "id": "164045", "database": "GeneID" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014001", "id": "IPR014001", "database": "InterPro" }, { "url": "http://www.omim.org/entry/615724", "id": "615724", "database": "MIM" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" }, { "url": "https://www.nextprot.org/entry/NX_A2PYH4", "id": "NX_A2PYH4", "database": "neXtProt" }, { "url": "http://pfam.xfam.org/family/PF00271", "id": "PF00271", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00270", "id": "PF00270", "database": "Pfam" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "id": "IPR036390", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20193", "id": "20193", "database": "HGNC" }, { "url": "http://www.orthodb.org/?query=154891at2759", "id": "154891at2759", "database": "OrthoDB" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "id": "hsa:164045", "database": "KEGG Pathway" }, { "url": "https://omabrowser.org/oma/group/ASVIQMY/", "id": "ASVIQMY", "database": "OMA" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2PYH4", "id": "PR_A2PYH4", "database": "PRO" }, { "url": "http://www.omim.org/entry/615684", "id": "615684", "database": "MIM" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1", "id": "HFM1", "database": "GeneCards" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011545", "id": "IPR011545", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004179", "id": "IPR004179", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001650", "id": "IPR001650", "database": "InterPro" } ], "expression_disease": [ { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" } ], "glycosylation": [], "disease": [ { "synonyms": [ { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "premature ovarian failure 9", "description": "" }, { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "premature ovarian failure 9; Pof9", "description": "" }, { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "HFM1 primary ovarian failure", "description": "" }, { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "Pof9", "description": "" }, { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "primary ovarian failure caused by mutation in HFM1", "description": "" }, { "id": "0014322", "url": "https://monarchinitiative.org/disease/MONDO:0014322#gene-causal", "resource": "MONDO", "name": "premature ovarian failure type 9", "description": "" }, { "id": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "resource": "Disease Ontology", "name": "hypergonadotropic hypogonadism", "description": "" }, { "id": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "resource": "Disease Ontology", "name": "premature menopause", "description": "" }, { "id": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "resource": "Disease Ontology", "name": "premature ovarian insufficiency", "description": "" }, { "id": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "resource": "Disease Ontology", "name": "primary ovarian insufficiency", "description": "" } ], "recommended_name": { "id": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "resource": "Disease Ontology", "name": "premature ovarian failure", "description": "" }, "evidence": [ { "url": "https://www.omim.org/entry/615724", "id": "615724", "database": "MIM" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 162610.0, "chemical_mass": 162610.0 }, 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"present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "name": "HFM1", "locus": { "end_pos": 91260766, "start_pos": 91404869, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000162669", "id": "ENSG00000162669", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "refseq", "name": "helicase-like protein HFM1; SEC63 domain-containing protein 1; HFM1, ATP dependent DNA helicase homolog" }, { "type": "synonym", "resource": "uniprotkb", "name": "3.6.4.12" }, { "type": "synonym", "resource": "refseq", "name": "probable ATP-dependent DNA helicase HFM1" }, { "type": "synonym", "resource": "uniprotkb", "name": "SEC63 domain-containing protein 1" }, { "type": "recommended", "resource": "uniprotkb", "name": "Probable ATP-dependent DNA helicase HFM1" } ] }