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Aliases for GFER Gene

Aliases for GFER Gene

  • Growth Factor, Augmenter Of Liver Regeneration 2 3 5
  • HERV1 3 4
  • ALR 3 4
  • HPO 3 4
  • Growth Factor, Erv1 (S. Cerevisiae)-Like (Augmenter Of Liver Regeneration) 2
  • Hepatic Regenerative Stimulation Substance 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
  • ERV1 3
  • HPO1 3
  • HPO2 3
  • HSS 3

External Ids for GFER Gene

Previous GeneCards Identifiers for GFER Gene

  • GC16P002051
  • GC16P002061
  • GC16P001974
  • GC16P002036
  • GC16P001965
  • GC16P002043
  • GC16P002045
  • GC16P002049
  • GC16P002056
  • GC16P002083
  • GC16P002095
  • GC16P002116

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 Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay and Oculodentodigital Dysplasia. Among its related pathways are p70S6K Signaling and ERK Signaling. 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

Regulatory Elements for GFER Gene

Enhancers for GFER Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GFER on UCSC Golden Path with GeneCards custom track

Promoters for GFER Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GFER on UCSC Golden Path with GeneCards custom track

Genomic Location for GFER Gene

Chromosome:
16
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

Genes around GFER on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFER Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFER Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 78
  • Modification sites at PhosphoSitePlus

Other Protein References for GFER Gene

No data available for DME Specific Peptides for GFER Gene

Domains & Families for GFER Gene

Protein Domains for GFER Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GFER Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55789

UniProtKB/Swiss-Prot:

ALR_HUMAN :
  • Contains 1 ERV/ALR sulfhydryl oxidase domain.
Domain:
  • Contains 1 ERV/ALR sulfhydryl oxidase domain.
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:0016972 thiol oxidase activity IEA --
genes like me logo Genes that share ontologies with GFER: view
genes like me logo Genes that share phenotypes with GFER: view

Human Phenotype Ontology for GFER Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GFER Gene

MGI Knock Outs for GFER:

Animal Model Products

No data available for Transcription Factor Targets 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
cytosol 5
extracellular 5
mitochondrion 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GFER Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with GFER: view

Pathways & Interactions for GFER Gene

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

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 --
genes like me logo Genes that share ontologies with GFER: view

No data available for SIGNOR curated interactions for GFER Gene

Drugs & Compounds for GFER Gene

(3) Drugs for GFER Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Hydrogen peroxide Pharma 47

(1) Additional Compounds for GFER Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
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

Protein differential expression in normal tissues from HIPED for GFER Gene

This gene is overexpressed in Adrenal (34.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GFER: view

Protein tissue co-expression partners for GFER Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GFER Gene

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
cow
(Bos Taurus)
Mammalia GFER 35
  • 86.93 (n)
  • 84.8 (a)
GFER 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFER 35
  • 88.34 (n)
  • 87.68 (a)
GFER 36
  • 49 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfer 35
  • 81.56 (n)
  • 78.17 (a)
Gfer 16
Gfer 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfer 35
  • 80.54 (n)
  • 76.65 (a)
oppossum
(Monodelphis domestica)
Mammalia GFER 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GFER 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFER 35
  • 63.92 (n)
  • 60 (a)
GFER 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFER 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfer 35
  • 69.27 (n)
  • 67.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11036 35
zebrafish
(Danio rerio)
Actinopterygii gfer 35
  • 62.24 (n)
  • 58.86 (a)
gfer 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12534 37
  • 52 (a)
Alr 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F56C11.3 37
  • 52 (a)
F56C11.3 35
  • 52.55 (n)
  • 48.18 (a)
F56C11.3 36
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV1 36
  • 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

(1) 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
rs36041021 - 1,985,906(+) CATGC(C/T)TCACA reference, missense
rs121908192 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) 1,985,991(+) TGAGC(A/G)CTGGC reference, missense
rs4305019 -- 1,983,940(+) GCGTG(A/C)GCCGC upstream-variant-2KB
rs4305020 -- 1,983,969(+) GCCAG(C/G)AGGGT upstream-variant-2KB
rs61572004 -- 1,985,613(+) AATGT(C/G)TTGCC intron-variant

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

Variation tolerance for GFER Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFER Gene

Human Gene Mutation Database (HGMD)
GFER

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFER Gene

Disorders for GFER Gene

MalaCards: The human disease database

(13) MalaCards diseases for GFER Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
  • mitochondrial complex deficiency, combined
oculodentodigital dysplasia
  • odd syndrome
syndactyly, type iii
  • syndactyly type 3
hypoplastic left heart syndrome 1
  • hypoplastic left heart syndrome
atrioventricular septal defect 3
  • avsd3
- elite association - COSMIC cancer census association via MalaCards
Search GFER in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GFER

Genetic Association Database (GAD)
GFER
Human Genome Epidemiology (HuGE) Navigator
GFER
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFER
genes like me logo Genes that share disorders with GFER: view

No data available for Genatlas for GFER Gene

Publications for GFER Gene

  1. 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 67
  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 23
  3. Protective effect of augmenter of liver regeneration on hydrogen peroxide-induced apoptosis in SH-SY5Y human neuroblastoma cells. (PMID: 19629817) Polimeno L. … Francavilla A. (Free Radic. Res. 2009) 3 23
  4. Regulation of polyamine synthesis in human hepatocytes by hepatotrophic factor augmenter of liver regeneration. (PMID: 16677602) Dayoub R. … Weiss T.S. (Biochem. Biophys. Res. Commun. 2006) 3 23
  5. Insights on augmenter of liver regeneration cloning and function. (PMID: 16937489) Gatzidou E. … Theocharis S. (World J. Gastroenterol. 2006) 3 23

Products for GFER Gene

Sources for GFER Gene

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