• Gene id: 25994

Gene Summary

• Gene Symbol: HIGD1A   Gene   UCSC   Ensembl
• Aliases: HIG1, RCF1a
• Gene name: HIG1 hypoxia inducible domain family member 1A
• Alternate names: HIG1 domain family member 1A, mitochondrial, HIG1 domain family, member 1A, RCF1 homolog A, hypoxia inducible gene 1, hypoxia-inducible gene 1 protein,
• Gene location: 3p22.1 (42804534: 42782907)     Exons: 4     NC_000003.12
• OMIM: 618623

Protein Summary

• Protein general information: Q9Y241  
  • Name: HIG1 domain family member 1A, mitochondrial (Hypoxia inducible gene 1 protein) (RCF1 homolog A) (RCF1a)
  • Length: 93  
  • Mass: 10143
• Sequence:

  MSTDTGVSLPSYEEDQGSKLIRKAKEAPFVPVGIAGFAAIVAYGLYKLKSRGNTKMSIHLIHMRVAAQGFVVGAM
  TVGMGYSMYREFWAKPKP

• Structural information:
  • Protein Domains: (1..9-)
    (/note="HIG1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00836"-)
  • Interpro: IPR007667  
  • Prosite: PS51503
  • PDB: 2LOM
  • PDBsum: 2LOM
  • STRING: ENSP00000398064
• Other Databases: GeneCards:  HIGD1A  Malacards:  HIGD1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0097250	mitochondrial respirasome assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071902	positive regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881