HFM1 (original) (raw)

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Protein-coding gene in the species Homo sapiens

HFM1
Identifiers
Aliases HFM1, MER3, POF9, SEC63D1, Si-11, Si-11-6, helicase, ATP-dependent DNA helicase homolog, ATP dependent DNA helicase homolog, helicase for meiosis 1
External IDs OMIM: 615684; MGI: 3036246; HomoloGene: 87103; GeneCards: HFM1; OMA:HFM1 - orthologs
Gene location (Human)Chromosome 1 (human)Chr.Chromosome 1 (human)[1]Chromosome 1 (human)Genomic location for HFM1Genomic location for HFM1Band1p22.2Start91,260,766 bp[1]End91,404,856 bp[1]
Gene location (Mouse)Chromosome 5 (mouse)Chr.Chromosome 5 (mouse)[2]Chromosome 5 (mouse)Genomic location for HFM1Genomic location for HFM1Band5|5 E5Start106,840,192 bp[2]End106,926,321 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed intesticlegonadPituitary Glandanterior pituitaryright testisleft testisventricular zonecerebellar hemisphereright hemisphere of cerebellumganglionic eminenceTop expressed inspermatocytespermatidtesticleganglionic eminenceMesencephalonventricular zoneembryoembryoneural tubesecondary oocyteMore reference expression dataBioGPSn/a
Gene ontologyMolecular function ATP binding hydrolase activity nucleotide binding nucleic acid binding helicase activity Cellular component nucleolus cytoplasm Biological process resolution of meiotic recombination intermediates meiosis RNA secondary structure unwinding Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez164045330149EnsemblENSG00000162669ENSMUSG00000043410UniProtA2PYH4C9JQ07D3Z4R1RefSeq (mRNA)NM_001017975NM_001252516NM_177873RefSeq (protein)NP_001017975NP_001239445NP_808541Location (UCSC)Chr 1: 91.26 – 91.4 MbChr 5: 106.84 – 106.93 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

HFM1 is a gene that in humans encodes a protein necessary for homologous recombination of chromosomes.[5] Biallelic mutations in HFM1 cause recessive primary ovarian insufficiency.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162669 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043410 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Wang J, Zhang W, Jiang H, Wu BL (March 2014). "Mutations in HFM1 in recessive primary ovarian insufficiency". The New England Journal of Medicine. 370 (10): 972–4. doi:10.1056/NEJMc1310150. PMID 24597873.