HFM1 (helicase for meiosis 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 164045
Gene name Helicase for meiosis 1
Gene symbol HFM1
Synonyms (NCBI Gene)
MER3POF9SEC63D1Si-11Si-11-6helicase
Chromosome 1
Chromosome location 1p22.2
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]
SNPs SNP information provided by dbSNP.
4
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.
42
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615684 20193 ENSG00000162669
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azoospermia Pathogenic rs746229304 RCV001797566
Genetic non-acquired premature ovarian failure Pathogenic; Likely pathogenic rs2101730664, rs1209622397 RCV001661768
RCV001661769
Premature ovarian failure 9 Likely pathogenic; Pathogenic rs763964671, rs730880018, rs587777268, rs587777269, rs587777270, rs763202322, rs2525301718, rs754924716, rs751622198 RCV001839424
RCV000114368
RCV000114369
RCV000114370
RCV000114371
RCV005361734
RCV003146003
RCV003388778
RCV001290508
Spermatogenic failure 4 Pathogenic rs748343941, rs753422559 RCV002261380
RCV002261381
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1665244420, rs2101345292, rs1179064123 -
HFM1-related disorder Likely benign; Benign rs201905613, rs1358725879, rs765926303, rs200915218, rs148872247, rs142253234, rs1203369404, rs201688317, rs143399622 RCV003981578
RCV003967270
RCV003961800
RCV003947338
RCV003924513
RCV003961909
RCV003967250
RCV003971573
RCV003925464
Show/Hide Text Mining Associations (54)
Associations from Text MiningDisease 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