HFM1

Protein-coding gene in the species Homo sapiens
HFM1
Identifiers
AliasesHFM1, MER3, POF9, SEC63D1, Si-11, Si-11-6, helicase, ATP-dependent DNA helicase homolog, ATP dependent DNA helicase homolog, helicase for meiosis 1
External IDsOMIM: 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 HFM1
Genomic location for HFM1
Band1p22.2Start91,260,766 bp[1]
End91,404,856 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for HFM1
Genomic location for HFM1
Band5|5 E5Start106,840,192 bp[2]
End106,926,321 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pituitary gland

  • anterior pituitary

  • cerebellar hemisphere

  • ganglionic eminence

  • Achilles tendon

  • left lobe of thyroid gland

  • right lobe of thyroid gland

  • gastrocnemius muscle

  • gastric mucosa

  • canal of the cervix
Top expressed in
  • spermatocyte

  • spermatid

  • testicle

  • ganglionic eminence

  • mesencephalon

  • neural tube

  • secondary oocyte

  • lens

  • rhombencephalon

  • hypothalamus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular 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
Orthologs
SpeciesHumanMouse
Entrez

164045

330149

Ensembl

ENSG00000162669

ENSMUSG00000043410

UniProt

A2PYH4
C9JQ07

D3Z4R1

RefSeq (mRNA)

NM_001017975

NM_001252516
NM_177873

RefSeq (protein)

NP_001017975

NP_001239445
NP_808541

Location (UCSC)Chr 1: 91.26 – 91.4 MbChr 5: 106.84 – 106.93 Mb
PubMed 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]

References

  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.