GFER

Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae), also known as GFER, or Hepatopoietin is a protein which in humans is encoded by the GFER gene. This gene is also known as essential for respiration and vegatative growth, augmenter of liver regeneration, and growth factor of Erv1-like/Hepatic regenerative stimulation substance.^[5][6][7]

GFER
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3MBG, 3O55, 3TK0, 3U2L, 3U2M, 3U5S, 4LDK
Identifiers
Aliases	GFER, ALR, ERV1, HERV1, HPO, HPO1, HPO2, HSS, growth factor, augmenter of liver regeneration, MMCHD, MPMCD
External IDs	OMIM: 600924; MGI: 107757; HomoloGene: 55884; GeneCards: GFER; OMA:GFER - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 1,984,193 bp[1] End 1,987,749 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A3.3|17 12.48 cM Start 24,912,161 bp[2] End 24,915,130 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava mucosa of transverse colon body of pancreas muscle of thigh olfactory zone of nasal mucosa granulocyte body of tongue right lobe of liver right testis gastrocnemius muscle Top expressed in seminiferous tubule primary oocyte Ileal epithelium left lobe of liver Paneth cell triceps brachii muscle embryo proximal tubule epiblast right kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-disulfide reductase activity oxidoreductase activity growth factor activity protein binding thiol oxidase activity flavin adenine dinucleotide binding flavin-linked sulfhydryl oxidase activity Cellular component extracellular region mitochondrial intermembrane space cytoplasm mitochondrion cytosol Biological process liver development regulation of signaling receptor activity signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2671 11692 Ensembl ENSG00000127554 ENSMUSG00000040888 UniProt P55789 P56213 RefSeq (mRNA) NM_005262 NM_023040 NM_212443 NM_001379038 NM_001379039 RefSeq (protein) NP_005253 NP_075527 Location (UCSC) Chr 16: 1.98 – 1.99 Mb Chr 17: 24.91 – 24.92 Mb PubMed search [3] [4]
Wikidata
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Structure

The GFER gene is located on the p arm of chromosome 16 at position 13.3 and it spans 3,600 base pairs.^[5] The GFER gene produces a 15.4 kDa protein composed of 130 amino acids.^[8][9] The structure of the protein is a homodimer which has been found to be fairly similar to the scERV1 protein of yeast.^[10]

Genomics

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.

Function

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 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.^[5]

Clinical significance

Mutations in GFER has been shown to result in Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD). MPMCHD is a disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.

Interactions

GFER has been shown to interact with COP9 constitutive photomorphogenic homolog subunit 5^[11] and BNIPL.^[12]