HFM1 (helicase for meiosis 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
164045
Gene name Gene Name - the full gene name approved by the HGNC.
Helicase for meiosis 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HFM1
Synonyms (NCBI Gene) Gene synonyms aliases
MER3, POF9, SEC63D1, Si-11, Si-11-6, helicase
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs587777268 A>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant, intron variant, genic downstream transcript variant, 3 prime UTR variant
rs587777269 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs587777270 GG>C Pathogenic Frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs730880018 C>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(42)
miRTarBase ID miRNA Experiments Reference
MIRT017476 hsa-miR-335-5p Microarray 18185580
MIRT022487 hsa-miR-124-3p Microarray 18668037
MIRT635717 hsa-miR-551b-5p HITS-CLIP 23824327
MIRT635716 hsa-miR-181a-5p HITS-CLIP 23824327
MIRT635715 hsa-miR-181b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000712 Process Resolution of meiotic recombination intermediates IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003678 Function DNA helicase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615684 20193 ENSG00000162669
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID A2PYH4
Protein name Probable ATP-dependent DNA helicase HFM1 (EC 5.6.2.4) (DNA 3'-5' helicase HFM1) (SEC63 domain-containing protein 1)
Protein function Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 282 → 467 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 514 → 659 Helicase conserved C-terminal domain Family
PF02889 Sec63 777 → 1091 Sec63 Brl domain Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in testis and ovary. {ECO:0000269|PubMed:17286053}.
Sequence 
MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKL
LGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGK
LTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSN
DNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPS
FSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFV
ICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLN
CKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDEN
RGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCL
KMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGV
QQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEG
AFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQF
DTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIR
STLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEA
GRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPN
RITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVA
AQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETD
ARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTK
RTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSE
FVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGN
RECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMN
KSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVL
NVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQR
EMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQ
CFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF
Sequence length 1435
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Premature Ovarian Failure premature ovarian failure 9 rs587777269, rs587777270, rs730880018, rs587777268 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome, Serum omega-6 to omega-3 polyunsaturated fatty acid ratio in metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 35881270
Aging Premature Associate 35751457
Azoospermia Associate 34429122, 35172124, 37574498
Azoospermia Nonobstructive Associate 35486194
Bloom Syndrome Associate 11472631, 12724401, 12975363, 17878217, 19632996, 21300576, 22024395
Breast Neoplasms Associate 26125302
Carcinoma Hepatocellular Associate 33042264
Carcinoma Ovarian Epithelial Associate 29572031
Carcinoma Small Cell Associate 36379381
Chromosome Aberrations Associate 11472631