Human Gene GFER (ENST00000248114.7) from GENCODE V44
Description: Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA. (from RefSeq NM_005262) RefSeq Summary (NM_005262): The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000248114.7 Gencode Gene: ENSG00000127554.13 Transcript (Including UTRs) Position: hg38 chr16:1,984,193-1,987,749 Size: 3,557 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr16:1,984,219-1,986,028 Size: 1,810 Coding Exon Count: 3
ID:ALR_HUMAN DESCRIPTION: RecName: Full=FAD-linked sulfhydryl oxidase ALR; EC=1.8.3.2; AltName: Full=Augmenter of liver regeneration; Short=hERV1; AltName: Full=Hepatopoietin; FUNCTION: Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. FUNCTION: Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration. CATALYTIC ACTIVITY: 2 R'C(R)SH + O(2) = R'C(R)S-S(R)CR' + H(2)O(2). COFACTOR: FAD. SUBUNIT: Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2. SUBCELLULAR LOCATION: Isoform 1: Mitochondrion intermembrane space. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Secreted. TISSUE SPECIFICITY: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. DISEASE: Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency. SIMILARITY: Contains 1 ERV/ALR sulfhydryl oxidase domain. SEQUENCE CAUTION: Sequence=AAA96390.2; Type=Frameshift; Positions=70; Sequence=AAD36986.1; Type=Erroneous initiation; Sequence=AAD56538.1; Type=Erroneous initiation; Sequence=AAH02429.1; Type=Erroneous initiation; Sequence=AAH28348.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P55789
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.