{ "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": "ATP + H(2)O = ADP + phosphate." }, { "ec": "3.6.4.12", "activity": "" } ], "synonyms": { "protein": { "refseq": [ "probable ATP-dependent DNA helicase HFM1", "helicase-like protein HFM1; SEC63 domain-containing protein 1; HFM1, ATP dependent DNA helicase homolog" ], "uniprotkb": [ "Probable ATP-dependent DNA helicase HFM1", "3.6.4.12", "SEC63 domain-containing protein 1" ] }, "gene": { "refseq": [ "HFM1", "helicase", "MER3", "POF9", "SEC63D1", "Si-11", "Si-11-6" ], "uniprotkb": [ "HFM1", "SEC3D1", "helicase", "MER3", "POF9", "SEC63D1", "Si-11", "Si-11-6" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Probable ATP-dependent DNA helicase HFM1; 3.6.4.12; SEC63 domain-containing protein 1." }, "publication": [ { "title": "Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26679638", "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", "pmid": "26679638" }, { "title": "Mutations in HFM1 in recessive primary ovarian insufficiency.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24597873", "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", "pmid": "24597873" }, { "title": "Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23555294", "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", "pmid": "23555294" }, { "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20800603", "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", "pmid": "20800603" }, { "title": "HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17286053", "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", "pmid": "17286053" } ], "glycosylation": [], "mutation": [ { "start_pos": 440, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 440, "type": "Point mutation" }, { "start_pos": 269, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs749935008.", "sequence_org": "A", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "icd10": "", "name": "Pancreatic cancer" }, "sequence_mut": "T", "subjects_tested": "399", "end_pos": 269, "type": "Point mutation" }, { "start_pos": 696, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "L", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "R", "subjects_tested": "191", "end_pos": 696, "type": "Point mutation" }, { "start_pos": 358, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 358, "type": "Point mutation" }, { "start_pos": 544, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 544, "type": "Point mutation" }, { "start_pos": 1047, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.5", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs754765102.", "sequence_org": "T", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "M", "subjects_tested": "191", "end_pos": 1047, "type": "Point mutation" }, { "start_pos": 1132, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 1132, "type": "Point mutation" }, { "start_pos": 1047, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs754765102.", "sequence_org": "T", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "M", "subjects_tested": "456", "end_pos": 1047, "type": "Point mutation" }, { "start_pos": 782, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "R", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "T", "subjects_tested": "103", "end_pos": 782, "type": "Point mutation" }, { "start_pos": 366, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 366, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (5). In dbSNP: rs148381777.", "sequence_org": "T", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "M", "subjects_tested": "558", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (5). In dbSNP: rs148381777.", "sequence_org": "T", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "M", "subjects_tested": "1044", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 980, "subjects_positive": "3", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.5", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "E", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "*", "subjects_tested": "558", "end_pos": 980, "type": "Point mutation" }, { "start_pos": 269, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs749935008.", "sequence_org": "A", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "T", "subjects_tested": "678", "end_pos": 269, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (5). In dbSNP: rs148381777.", "sequence_org": "T", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "M", "subjects_tested": "569", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 218, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%). In dbSNP: rs1217262607.", "sequence_org": "N", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "D", "subjects_tested": "103", "end_pos": 218, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.6", "annotation": "Filters passed (1/5): num. of cancers (5). In dbSNP: rs148381777.", "sequence_org": "T", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "M", "subjects_tested": "162", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 1341, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 1341, "type": "Point mutation" }, { "start_pos": 1255, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 1255, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.8", "annotation": "Filters passed (1/5): num. of cancers (5). In dbSNP: rs148381777.", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "129", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 988, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Y", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "C", "subjects_tested": "50", "end_pos": 988, "type": "Point mutation" }, { "start_pos": 165, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 165, "type": "Point mutation" }, { "start_pos": 94, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 94, "type": "Point mutation" }, { "start_pos": 980, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "E", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "*", "subjects_tested": "678", "end_pos": 980, "type": "Point mutation" }, { "start_pos": 841, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs775049733.", "sequence_org": "R", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "W", "subjects_tested": "820", "end_pos": 841, "type": "Point mutation" }, { "start_pos": 980, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "E", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "*", "subjects_tested": "742", "end_pos": 980, "type": "Point mutation" }, { "start_pos": 292, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 292, "type": "Point mutation" }, { "start_pos": 265, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 265, "type": "Point mutation" }, { "start_pos": 269, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.7", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs749935008.", "sequence_org": "A", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "T", "subjects_tested": "150", "end_pos": 269, "type": "Point mutation" }, { "start_pos": 1063, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "V", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "L", "subjects_tested": "103", "end_pos": 1063, "type": "Point mutation" }, { "start_pos": 300, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "A", "subjects_tested": "50", "end_pos": 300, "type": "Point mutation" }, { "start_pos": 822, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%). In dbSNP: rs758269920.", "sequence_org": "I", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "M", "subjects_tested": "103", "end_pos": 822, "type": "Point mutation" }, { "start_pos": 1036, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "A", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "T", "subjects_tested": "93", "end_pos": 1036, "type": "Point mutation" }, { "start_pos": 1095, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 1095, "type": "Point mutation" }, { "start_pos": 269, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4). In dbSNP: rs749935008.", "sequence_org": "A", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "T", "subjects_tested": "756", "end_pos": 269, "type": "Point mutation" }, { "start_pos": 1047, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs754765102.", "sequence_org": "T", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "sequence_mut": "M", "subjects_tested": "412", "end_pos": 1047, "type": "Point mutation" }, { "start_pos": 841, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs775049733.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "W", "subjects_tested": "558", "end_pos": 841, "type": "Point mutation" }, { "start_pos": 841, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "id": "A2PYH4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs775049733.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "W", "subjects_tested": "456", "end_pos": 841, "type": "Point mutation" } ], "isoforms": [ { "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#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#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#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#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/www_bget?hsa:164045", "resource": "KEGG Pathway", "id": "hsa:164045", "name": "" } ], "function": [ { "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" } ] }, { "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" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F1LWY1-1", "protein_name": "Helicase for meiosis 1.", "sequence": { "length": 1434, "sequence": "MLESNDCILSMDSLFFSSPGETESFPVEEKSLDWFLPPAPLISEIPDIQELEEEIENYKLLGERKMPNILTSNLKIINEDTNCISPTQKFHFPYNIHEQDYLNLGGLNNNDMSHTAGKLVYGSSQKYKNHMGDESPPTKSGPGDAKLHTAAEDREGTSALKTRLSRTCGSVQECDYANGNLSLNSHISPARLTQTKVSKEKPWNCSNRKQKLQYSTDKSKANDAFSASGIEKDIFEAPSFSAASQPRDIQGITSNGLGSLKAVTEIPAKFRSVFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEAPLPWLNMKVVYMAPIKALCSQRFDDWKEKFGPIGLTCKELTGDTVMDDLFEIQHANIIMTTPEKWDSMTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSKTLENASPAPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPSSSNQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCATRKGVQQAASVLVKDAKFIITVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEELFTSGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYTGGAFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVSIALDWIRSTLLYIRALKNPSHYGFISGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDLNFRSTEAGRLMAWYYITFETVKKFCAISGKETLSDLISMISSCSEFLDVQLRISEKRTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTSKIFRNGSRIAKWLSDFVTAQEQKFAVLLNSVILAKCFKCKLWENSQHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVMYLPKYELEAEQIARYSDTKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVCKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYLGPRKFVNQTVTERSSGTGLSHSECSDRATAAGSSKRTATCRNPGNRECHHHCKNKHICGHDCCKIGVAQKPEAKVSAVSSYLSDLKSRDAVSSFPPAKRLKIQMNKSQNVDLKEFGFVPRPSLSSIARSEYLNIHKLPILEQRTQHEIYGEVEEGASECRDEDGPHVNSELGDEVWDDFDDESLIEVMSFSADAEEMAVSGFGDTRDSSLGRSKLHFGRSSSRFQRDISNSFVSSPEKPDVCLSDCSVSNFGLSSVAEFPQQAGNASLVNLQERKQLTLSPVIERMCFTHSEKIPQSPSFKEVDIFIGNSDSKKEIDLSKYYPDDAAEEMKALLGIFNGIF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/823916/", "id": "823916", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/87103", "id": "87103", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "D3Z4R1-1", "protein_name": "Probable ATP-dependent DNA helicase HFM1; 3.6.4.12.", "sequence": { "length": 1434, "sequence": "MPKSDDCFFSMDNLFFSSPDETENFPVKEKSLDWFLPPAPLISEIPDIQELEEEIESYKLLGKGKMPRMLTSNLKIINEDTNCISPTQKIHFSYNVHEQDYLNLGGSNNNDMSHVAGKLMYGSSQKYKNHMGAKSPSARSSPGDTKLHDVAEDRQGTSAFKKRLSRTCDSEHDCDYADGSLNLSSHISPVKLTQTKISKENAWTCSNSKQKRQYSTNKFKANDAFSASGIGKDIFKAPSFPAASQPHDIQGITPNGLGSLKAVTEIPAKFRNIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNMKIVYMAPIKALCSQRFDDWKEKFGPVGLNCKELTGDTVMDDLFEIQHANIIITTPEKWDSVTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSRDLESASPVPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSSQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCSTRKGVQQAASVLVKDAKFIISVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEGLFTSGDLPVLFTTSTLAMGMNMPAHLVVIKSTMHYSGGVFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVNIALDWIRSTMLYIRALKNPSHYGFSSGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDVNFKPTEAGRLMAWYYITFETVKKFCAISGKETLLDLISMISSCNEFLDVQLRISEKRILNTLNKDPNRITIRFPMAERIKTREMKVNCLIQAQLGCIPIQDFALTQDTVKIFRNGSRIARWLSDFVAAQEKKFAVLLNSVILTKCFKCKLWENSKHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVAHLPKYELEVEQIARYSDIKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVFKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYFGPRKFVNETAMERSSETDISHSDYSGRATATGSSKGMATCKKPGNRECHHHCKNKHACGHDCCKIGVAQKPEVKESAMSSYLSDLKSRDAVSSLPLAKRLKIQMNKSQNVDLKEFGFTPRPSLSSISRSEYLNTPELSILEQRNQHEIYGKVQQGPSEYRDKEVLGVNLELGNEVWDDFDDESLIEVMSLSADAEKMAASGFGDTRDSSLGGSKLPFQKSSSRFQRDNSNSFASSPGKPDAYLRDCSRSSFGLSSVAEIPQRAENASLANLQERRPLTLSPVIERMCFAHSKKTPQSPKFKEVDIFIGNSGSKKEIDLSKYYPDDAAEEMKALLGIFNGIF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/823916/", "id": "823916", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/87103", "id": "87103", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "ac": "NP_001017975.4", "name": "probable ATP-dependent DNA helicase HFM1; helicase-like protein HFM1; SEC63 domain-containing protein 1; HFM1, ATP dependent DNA helicase homolog.", "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", "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", "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", "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", "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" } ] }, "site_annotation": [ { "end_pos": 207, "annotation": "n_glycosylation_sequon", "start_pos": 205 }, { "end_pos": 446, "annotation": "n_glycosylation_sequon", "start_pos": 444 }, { "end_pos": 505, "annotation": "n_glycosylation_sequon", "start_pos": 503 }, { "end_pos": 1202, "annotation": "n_glycosylation_sequon", "start_pos": 1200 }, { "end_pos": 1230, "annotation": "n_glycosylation_sequon", "start_pos": 1228 }, { "end_pos": 1374, "annotation": "n_glycosylation_sequon", "start_pos": 1372 }, { "end_pos": 1392, "annotation": "n_glycosylation_sequon", "start_pos": 1390 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975.4", "id": "NP_001017975.4", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20193", "id": "20193", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A2PYH4", "id": "A2PYH4", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A2PYH4", "id": "NX_A2PYH4", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1", "id": "HFM1", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:164045", "id": "hsa:164045", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "id": "ENSG00000162669", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/ASVIQMY/", "id": "ASVIQMY", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "id": "IPR036390", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001650", "id": "IPR001650", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004179", "id": "IPR004179", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011545", "id": "IPR011545", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014001", "id": "IPR014001", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00270", "id": "PF00270", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00271", "id": "PF00271", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02889", "id": "PF02889", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2PYH4", "id": "PR_A2PYH4", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/164045", "id": "164045", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4", "id": "A2PYH4", "database": "BioXpress" } ] } ], "uniprot_ac": "A2PYH4", "disease": [ { "doid": "5426", "url": "http://disease-ontology.org/term/DOID:5426", "icd10": "E28.3", "name": "Premature ovarian failure [DO disease name]", "evidence": [ { "url": "https://www.omim.org/entry/615724", "id": "615724", "database": "MIM" } ] } ], "mass": { "monoisotopic_mass": 162610.0, "chemical_mass": 162610.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "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=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=hsa:164045", "id": "hsa:164045", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2PYH4", "name": "HFM1; SEC3D1; helicase; MER3; POF9; SEC63D1; Si-11; Si-11-6.", "locus": { "end_pos": 91260766, "start_pos": 91404869, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000162669", "id": "ENSG00000162669", "database": "Ensembl Gene" } ] } } ] }