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FLASH GENE
Symbol GFER contributors: mct - updated : 20-11-2010
HGNC name growth factor, augmenter of liver regeneration
HGNC id 4236
Corresponding disease
CTMHD congenital cataract, muscular hypotonia, sensorineural hearing loss, and developmental delay
Location 16p13.3      Physical location : 2.034.149 - 2.037.748
Synonym name
  • growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)
  • hepatic regenerative stimulation substance
  • hepatopoietin 2
  • truncated augmenter of liver regeneration
    • Synonym symbol(s) HERV1, HPO2, HPO1, ERV1, HSS, ALR, HPO
    EC.number 1.8.3.2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text identical to SazB/C locus (see D16S530E)
    STRUCTURE 3.60 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • specific binding of FOXA2 to promoter and this binding was inducible when the cells were simultaneously stimulated with IL6
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 2248 15 125 found in the cytosol and in the nucleus 2010 20593814
  • also called sfALR
  • nuclear
  • lacks 80 amino acids at its N terminus
  • short isoform
  • cytokine form that circulates in serum (PMID: 19397338)
  • binds to Jun activation domain-binding protein 1 of the mammalian COP9 signalosome
  • receptors for sfALR stimulate the mitogen-activated protein kinase cascade leading to enhanced liver regeneration
    • 3 splicing 2447 23 205 . hepatic cells 2010 20593814
  • also called HPO23
  • cytoplasmic, and located mainly in the mitochondrial intermembrane space
  • exists under nonreducing and nondenaturing conditions as a homodimer and a heterodimer
  • long isoform
  • believed to participate in oxidative trapping of reduced proteins entering the mitochondrial intermembrane space (IMS)
  • a 80-AAs N-terminal extension containing an additional, distal, CxxC motif (PMID: 19397338)
    		•
    EXPRESSION
    Rna function ALR mRNA present in muscular tissue
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a CxxC motif
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae ERV1gene
    homolog to Drosophila CG12534
    homolog to murine Gfer
    homolog to C.elegans F56C11.3
    intraspecies homolog to ERV1
    Homologene
    FAMILY
  • ERV1/ALR family
    • CATEGORY enzyme , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,nucleus
    text
  • localized in the mitochondrial inter-membrane space or associated to mitochondrial cristae
    • basic FUNCTION
  • a versatile hepatotrophic growth factor and a cellular thiol oxidase
  • being essential for the oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle
  • involved in the synthesis or stability of the nuclear and mitochondrial transcripts (in actively regenerating cells)
  • involved in oncogenesis (in the liver)
  • having a function in liver regeneration and spermatogenesis
  • critically important for the survival of hepatocytes by its association with mitochondria and regulation of ATP synthesis
  • is thought to be one of the factors responsible for the extraordinary regenerative capacity of the liver
  • stimulates hepatocyte proliferation and up-regulates mt-DNA expression and ATP production
  • may be an important factor involved in the molecular events that trigger neuromuscular diseases
  • potentially, plays an essential pro-survival role in the maintenance of ESC pluripotency by preserving the structural and functional integrity of their mitochondria, through modulation of the key mitochondrial fission factor DNM1L
  • prosurvival role in maintaining mitochondrial fission-fusion dynamics in pluripotent ESCs (embryonic stem cell)
  • hepatotrophic growth factor which has been shown to stimulate hepatic regeneration after partial hepatectomy
    • CELLULAR PROCESS cell cycle, division
    cell life, differentiation
    nucleotide, genomic integrity
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS reproduction/sex
    text spermatogenesis
    PATHWAY
    metabolism energetic
    signaling
    a component
  • disulfide relay system in the IMS (intermembrane space) has been identified which consists of two essential components, the sulfhydryl oxidase GFER and the redox-regulated import receptor CHCHD4
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BNIPL
  • mediates the oxidation of CHCHD4 in a disulfide transfer reaction
  • binds FAD in a helix-rich domain that presents a CXXCC disulfide proximal to the isoalloxazine ring of the flavin
    • cell & other
    REGULATION
    Other regulated by FOXA2, and this regulation may be amplified by IL6
    regulated by EGF (crucial regulatory mechanism for EGF in GFER transcription within the promoter proximal region)
    ASSOCIATED DISORDERS
    corresponding disease(s) CTMHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS