GFER
entrez
2671
canonical
uniprot
P55789
canonical
ensembl
ENSG00000127554
resolver
ensembl
ENSG00000291944
resolver
ensp
ENSP00000248114
resolver
genesymbol
GFER
resolver
genesymbol_syn
ALR
resolver
genesymbol_syn
HERV1
resolver
genesymbol_syn
HPO
resolver
hgnc
HGNC:4236
resolver
uniprot
Q53YM6
resolver
uniprot
Q8TAH6
resolver
uniprot
Q9H290
resolver
uniprot
Q9UK40
resolver
uniprot_entry
ALR_HUMAN
resolver
uniprot_sec
Q53YM6
resolver
uniprot_sec
Q8TAH6
resolver
uniprot_sec
Q9H290
resolver
uniprot_sec
Q9UK40
resolver
amino_acid_sequence
MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSPVAEDASRRRPCRACVDFKTWMRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDLPTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDTRTRACFTQWLCHLHNEVNRKLGKPDFDCSKVDERWRDGWKDGSCD
uniprot
proteins
disease_involvement
DISEASE: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCD) [MIM:613076]: A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. {ECO:0000269|PubMed:19409522, ECO:0000269|PubMed:20593814}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.8.3.2
uniprot
proteins
function
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. {ECO:0000269|PubMed:19397338, ECO:0000269|PubMed:20593814, ECO:0000269|PubMed:21383138, ECO:0000269|PubMed:22224850, ECO:0000269|PubMed:23186364, ECO:0000269|PubMed:23676665}.; FUNCTION: [Isoform 2]: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.
uniprot
proteins
mass_dalton
23449
uniprot
proteins
pubmed
10712775
uniprot
proteins
pubmed
12180965
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19397338
uniprot
proteins
pubmed
19409522
uniprot
proteins
pubmed
20593814
uniprot
proteins
pubmed
21383138
uniprot
proteins
pubmed
22224850
uniprot
proteins
pubmed
23186364
uniprot
proteins
pubmed
23676665
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8575761
uniprot
proteins
sequence_length
205
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion intermembrane space. Mitochondrion {ECO:0000269|PubMed:23676665}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Secreted.
uniprot
proteins