ENSG00000162669


Homo sapiens

Features
Gene ID: ENSG00000162669
  
Biological name :HFM1
  
Synonyms : A2PYH4 / HFM1 / HFM1, ATP dependent DNA helicase homolog
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p22.2
Gene start: 91260766
Gene end: 91404869
  
Corresponding Affymetrix probe sets: 1564285_at (Human Genome U133 Plus 2.0 Array)   241469_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409827
Ensembl peptide - ENSP00000388900
Ensembl peptide - ENSP00000359454
Ensembl peptide - ENSP00000387661
Ensembl peptide - ENSP00000397369
NCBI entrez gene - 164045     See in Manteia.
OMIM - 615684
RefSeq - XM_017000494
RefSeq - XM_011540857
RefSeq - XM_011540859
RefSeq - XM_017000490
RefSeq - XM_017000491
RefSeq - XM_017000492
RefSeq - XM_017000493
RefSeq - NM_001017975
RefSeq - XM_011540849
RefSeq - XM_011540850
RefSeq - XM_011540851
RefSeq - XM_011540852
RefSeq - XM_011540855
RefSeq Peptide - NP_001017975
swissprot - C9JQP7
swissprot - C9JQ07
swissprot - C9JA44
swissprot - H0Y3X7
swissprot - A2PYH4
Ensembl - ENSG00000162669
  
Related genetic diseases (OMIM): 615724 - Premature ovarian failure 9, 615724
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hfm1ENSDARG00000104288Danio rerio
 HFM1ENSGALG00000006091Gallus gallus
 Hfm1ENSMUSG00000043410Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001650  Helicase, C-terminal
 IPR004179  Sec63 domain
 IPR011545  DEAD/DEAH box helicase domain
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000712 resolution of meiotic recombination intermediates IEA
 biological_processGO:0010501 RNA secondary structure unwinding IBA
 biological_processGO:0051321 meiotic cell cycle IEA
 cellular_componentGO:0005730 nucleolus IBA
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0004004 ATP-dependent RNA helicase activity IBA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000141 Amenorrhea 
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 HP:0000837 Elevated gonadotropins 
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 HP:0008209 Premature ovarian failure 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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