• Gene id: 51751

Gene Summary

• Gene Symbol: HIGD1B   Gene   UCSC   Ensembl
• Aliases: CLST11240, CLST11240-15
• Gene name: HIG1 hypoxia inducible domain family member 1B
• Alternate names: HIG1 domain family member 1B,
• Gene location: 17q21.31 (44844280: 44850479)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple
• OMIM: 606680

Protein Summary

• Protein general information: Q9P298  
  • Name: HIG1 domain family member 1B (Protein CLST 11240)
  • Length: 99  
  • Mass: 11058
• Sequence:

  MSANRRWWVPPDDEDCVSEKLLRKTRESPLVPIGLGGCLVVAAYRIYRLRSRGSTKMSIHLIHTRVAAQACAVGA
  IMLGAVYTMYSDYVKRMAQDAGEK

• Structural information:
  • Protein Domains: (1..9-)
    (/note="HIG1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00836"-)
  • Interpro: IPR007667  
  • Prosite: PS51503
  • PDB: 2LON
  • PDBsum: 2LON
  • STRING: ENSP00000253410
• Other Databases: GeneCards:  HIGD1B  Malacards:  HIGD1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0097250	mitochondrial respirasome assembly	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq