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Aliases for GFER Gene

Aliases for GFER Gene

  • Growth Factor, Augmenter Of Liver Regeneration 2 3
  • ALR 3 4 6
  • HERV1 3 4
  • ERV1 3 6
  • HPO 3 4
  • Growth Factor, Erv1 (S. Cerevisiae)-Like (Augmenter Of Liver Regeneration) 2
  • Hepatic Regenerative Stimulation Substance 3
  • FAD-Linked Sulfhydryl Oxidase ALR 3
  • Augmenter Of Liver Regeneration 4
  • ERV1 Homolog (S. Cerevisiae) 2
  • Erv1-Like Growth Factor 3
  • Hepatopoietin Protein 3
  • Hepatopoietin 4
  • ERV1 Homolog 3
  • EC 1.8.3.2 4
  • HPO1 3
  • HPO2 3
  • HSS 3

External Ids for GFER Gene

Summaries for GFER Gene

Entrez Gene Summary for GFER Gene

  • 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]

GeneCards Summary for GFER Gene

GFER (Growth Factor, Augmenter Of Liver Regeneration) is a Protein Coding gene. Diseases associated with GFER include nodular regenerative hyperplasia and congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include growth factor activity and protein disulfide oxidoreductase activity.

UniProtKB/Swiss-Prot for GFER Gene

  • 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

Gene Wiki entry for GFER Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFER Gene

Genomics for GFER Gene

Genomic Location for GFER Gene

Start:
1,984,149 bp from pter
End:
1,987,749 bp from pter
Size:
3,601 bases
Orientation:
Plus strand

Genomic View for GFER Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GFER Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFER Gene

Regulatory Elements for GFER Gene

Proteins for GFER Gene

  • Protein details for GFER Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55789-ALR_HUMAN
    Recommended name:
    FAD-linked sulfhydryl oxidase ALR
    Protein Accession:
    P55789
    Secondary Accessions:
    • Q53YM6
    • Q8TAH6
    • Q9H290
    • Q9UK40

    Protein attributes for GFER Gene

    Size:
    205 amino acids
    Molecular mass:
    23449 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2.
    SequenceCaution:
    • Sequence=AAA96390.2; Type=Frameshift; Positions=70; Evidence={ECO:0000305}; Sequence=AAD36986.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD56538.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH02429.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH28348.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GFER Gene

    Alternative splice isoforms for GFER Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFER Gene

Proteomics data for GFER Gene at MOPED

Post-translational modifications for GFER Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys78

Other Protein References for GFER Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GFER Gene

Domains for GFER Gene

Protein Domains for GFER Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

ALR_HUMAN
Domain:
  • Contains 1 ERV/ALR sulfhydryl oxidase domain.:
    • P55789
genes like me logo Genes that share domains with GFER: view

No data available for Gene Families for GFER Gene

Function for GFER Gene

Molecular function for GFER Gene

GENATLAS Biochemistry: growth factor homolog of yeast ERV1 gene,15.1kDa, (?involved in oxidative phosphorylation),identical to SazB/C locus (see D16S530E)
UniProtKB/Swiss-Prot CatalyticActivity: 2 RC(R)SH + O(2) = RC(R)S-S(R)CR + H(2)O(2).
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Function: Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration

Enzyme Numbers (IUBMB) for GFER Gene

Gene Ontology (GO) - Molecular Function for GFER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12681488
GO:0008083 growth factor activity IEA --
GO:0015035 protein disulfide oxidoreductase activity IDA 22224850
GO:0016972 thiol oxidase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IDA 22224850
genes like me logo Genes that share ontologies with GFER: view

Phenotypes for GFER Gene

GenomeRNAi human phenotypes for GFER:
genes like me logo Genes that share phenotypes with GFER: view

miRNA for GFER Gene

miRTarBase miRNAs that target GFER

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GFER Gene

Localization for GFER Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFER Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFER Gene COMPARTMENTS Subcellular localization image for GFER gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
plasma membrane 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GFER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005758 mitochondrial intermembrane space IEA --
genes like me logo Genes that share ontologies with GFER: view

Pathways for GFER Gene

genes like me logo Genes that share pathways with GFER: view

Pathways by source for GFER Gene

Gene Ontology (GO) - Biological Process for GFER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with GFER: view

Compounds for GFER Gene

(1) HMDB Compounds for GFER Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5

(1) Drugbank Compounds for GFER Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Flavin-Adenine Dinucleotide
146-14-5 target

(1) Novoseek inferred chemical compound relationships for GFER Gene

Compound -log(P) Hits PubMed IDs
cysteine 3.8 2
genes like me logo Genes that share compounds with GFER: view

Transcripts for GFER Gene

Unigene Clusters for GFER Gene

Growth factor, augmenter of liver regeneration:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GFER Gene

No ASD Table

Relevant External Links for GFER Gene

GeneLoc Exon Structure for
GFER
ECgene alternative splicing isoforms for
GFER

Expression for GFER Gene

mRNA expression in normal human tissues for GFER Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFER Gene

SOURCE GeneReport for Unigene cluster for GFER Gene Hs.27184

mRNA Expression by UniProt/SwissProt for GFER Gene

P55789-ALR_HUMAN
Tissue specificity: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.
genes like me logo Genes that share expressions with GFER: view

Orthologs for GFER Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GFER Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFER 37
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GFER 36
  • 86.93 (n)
  • 84.8 (a)
GFER 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFER 36
  • 88.34 (n)
  • 87.68 (a)
GFER 37
  • 49 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfer 36
  • 81.56 (n)
  • 78.17 (a)
Gfer 16
Gfer 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GFER 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfer 36
  • 80.54 (n)
  • 76.65 (a)
chicken
(Gallus gallus)
Aves GFER 36
  • 63.92 (n)
  • 60 (a)
GFER 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFER 37
  • 53 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11036 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gfer 36
  • 69.27 (n)
  • 67.38 (a)
zebrafish
(Danio rerio)
Actinopterygii gfer 36
  • 62.24 (n)
  • 58.86 (a)
gfer 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Alr 37
  • 29 (a)
OneToOne
CG12534 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea F56C11.3 36
  • 52.55 (n)
  • 48.18 (a)
F56C11.3 37
  • 42 (a)
OneToOne
F56C11.3 38
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV1 37
  • 32 (a)
OneToOne
Species with no ortholog for GFER:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GFER Gene

ENSEMBL:
Gene Tree for GFER (if available)
TreeFam:
Gene Tree for GFER (if available)

Paralogs for GFER Gene

Selected SIMAP similar genes for GFER Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GFER: view

No data available for Paralogs for GFER Gene

Variants for GFER Gene

Sequence variations from dbSNP and Humsavar for GFER Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1046494 -- 1,986,043(+) AGCCA(A/G/T)AGCTC utr-variant-3-prime
rs1046495 -- 1,986,047(+) AGAGC(C/T)CATGG utr-variant-3-prime
rs1046502 -- 1,985,867(+) ACAGG(C/T)TGTGC reference, synonymous-codon
rs1122949 -- 1,983,798(+) GCGAT(C/G)GGGAC upstream-variant-2KB
rs1465258 -- 1,983,756(+) GCACA(A/G)AGCCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GFER Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
nsv905048 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2547n71 CNV Loss 21882294
dgv2548n71 CNV Gain 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
nsv905061 CNV Loss 21882294
dgv2551n71 CNV Loss 21882294
nsv471070 CNV Gain 18288195
nsv905070 CNV Gain+Loss 21882294
dgv2552n71 CNV Gain+Loss 21882294
dgv336n27 CNV Loss 19166990
dgv2553n71 CNV Loss 21882294
nsv521569 CNV Loss 19592680
nsv523037 CNV Loss 19592680
nsv471072 CNV Loss 18288195
dgv2554n71 CNV Loss 21882294
nsv905082 CNV Loss 21882294
nsv905091 CNV Loss 21882294

Relevant External Links for GFER Gene

HapMap Linkage Disequilibrium report
GFER
Human Gene Mutation Database (HGMD)
GFER

Disorders for GFER Gene

(1) OMIM Diseases for GFER Gene (600924)

UniProtKB/Swiss-Prot

ALR_HUMAN
  • 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:0000269 PubMed:19409522}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for GFER Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for GFER

Genetic Association Database (GAD)
GFER
Human Genome Epidemiology (HuGE) Navigator
GFER
genes like me logo Genes that share disorders with GFER: view

Publications for GFER Gene

  1. Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription. (PMID: 12180965) Li Y. … He F. (Eur. J. Biochem. 2002) 3 4 23
  2. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory- chain deficiency. (PMID: 19409522) Di Fonzo A. … Comi G.P. (Am. J. Hum. Genet. 2009) 3 4 23
  3. A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. (PMID: 8575761) Lisowsky T. … Schneider M.C. (Genomics 1995) 2 3 4
  4. Augmenter of liver regeneration: substrate specificity of a flavin- dependent oxidoreductase from the mitochondrial intermembrane space. (PMID: 19397338) Daithankar V.N. … Thorpe C. (Biochemistry 2009) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GFER Gene

Sources for GFER Gene

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