InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GFER

Summary

InnateDB Protein

IDBP-9657.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GFER

Protein Name

growth factor, augmenter of liver regeneration

Synonyms

ALR; ERV1; HERV1; HPO; HPO1; HPO2; HSS;

Species

Homo sapiens

Ensembl Protein

ENSP00000248114

InnateDB Gene

IDBG-9655 (GFER)

Protein Structure

UniProt Annotation

Function

Isoform 1: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re- oxidized by donating electrons to cytochrome c or molecular oxygen.Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.

Subcellular Localization

Isoform 1: Mitochondrion intermembrane space.Isoform 2: Cytoplasm. Secreted.

Disease Associations

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) [MIM:613076]: A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. {ECO:0000269PubMed:19409522}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. {ECO:0000269PubMed:19409522}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	16 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0015035	protein disulfide oxidoreductase activity
GO:0016972	thiol oxidase activity
GO:0050660	flavin adenine dinucleotide binding