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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFER Gene

protein-coding   GIFtS: 65
GCID: GC16P002095

Growth Factor, Augmenter Of Liver Regeneration

(Previous names: growth factor, erv1 (S. cerevisiae)-like (augmenter of liver...)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Growth Factor, Augmenter Of Liver Regeneration1 2     ERV1 Homolog2
ALR2 3 5     Erv1-Like Growth Factor2
HERV12 3     FAD-Linked Sulfhydryl Oxidase ALR2
HPO2 3     Hepatic Regenerative Stimulation Substance2
ERV12 5     Hepatopoietin Protein2
ERV1 Homolog (S. Cerevisiae)1     EC 1.8.3.23
Growth Factor, Erv1 (S. Cerevisiae)-Like (Augmenter Of Liver Regeneration)1     Hepatopoietin3
HPO12     Augmenter Of Liver Regeneration3
HPO22     hERV13
HSS2     

External Ids:    HGNC: 42361   Entrez Gene: 26712   Ensembl: ENSG000001275547   OMIM: 6009245   UniProtKB: P557893   

Export aliases for GFER gene to outside databases

Previous GC identifers: GC16P002051 GC16P002061 GC16P001974 GC16P002036 GC16P001965 GC16P002043 GC16P002045 GC16P002049 GC16P002056 GC16P002083


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, and among its related super-pathways are Rac1 Pathway and Ras Pathway. GO annotations related to this gene include growth factor activity and protein disulfide oxidoreductase activity.

UniProtKB/Swiss-Prot: ALR_HUMAN, P55789
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
Function: Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration

Gene Wiki entry for GFER Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFER gene promoter:
         ER-alpha   p53   ATF-2   AP-4   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGFER promoter sequence
   Search SABiosciences Chromatin IP Primers for GFER

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFER


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3-p13.12   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3-p13.12

GFER Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFER gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002095:  view genomic region     (about GC identifiers)

Start:
2,034,150 bp from pter      End:
2,037,750 bp from pter
Size:
3,601 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ALR_HUMAN, P55789 (See protein sequence)
Recommended Name: FAD-linked sulfhydryl oxidase ALR  
Size: 205 amino acids; 23449 Da
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
Sequence caution: Sequence=AAA96390.2; Type=Frameshift; Positions=70; Sequence=AAD36986.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAD56538.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=AAH02429.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=AAH28348.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
6 PDB 3D structures from and Proteopedia for GFER:
3MBG (3D)        3O55 (3D)        3TK0 (3D)        3U2L (3D)        3U2M (3D)        3U5S (3D)    
Secondary accessions: Q53YM6 Q8TAH6 Q9H290 Q9UK40
Alternative splicing: 2 isoforms:  P55789-1   P55789-2   

Explore the universe of human proteins at neXtProt for GFER: NX_P55789

Explore proteomics data for GFER at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55789

  • GFER Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GFER Protein Expression
    REFSEQ proteins: NP_005253.3  
    ENSEMBL proteins: 
     ENSP00000456432   ENSP00000248114   ENSP00000456189   ENSP00000455885  
    Reactome Protein details: P55789
    Human Recombinant Protein Products for GFER: 
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    Novus Biologicals GFER Proteins
    Sino Biological Recombinant Protein for GFER
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for GFER
    Cloud-Clone Corp. Proteins for GFER 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005758mitochondrial intermembrane space IEA--

    GFER for ontologies           About GeneDecksing



    GFER Antibody Products: 
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    R&D Systems Antibodies for GFER (GFER/ALR)
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    Novus Biologicals GFER Antibody
    Abcam antibodies for GFER
    Cloud-Clone Corp. Antibodies for GFER 
    Search ThermoFisher Antibodies for GFER
    LSBio Antibodies in human, mouse, rat for GFER 

    Assay Products for GFER: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GFER
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GFER 
    Cloud-Clone Corp. CLIAs for GFER


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR017905 ERV/ALR_sulphydryl_oxidase
     IPR006863 Evr1_Alr

    Graphical View of Domain Structure for InterPro Entry P55789

    ProtoNet protein and cluster: P55789

    1 Blocks protein domain: IPB006863 Erv1/Alr

    UniProtKB/Swiss-Prot: ALR_HUMAN, P55789
    Similarity: Contains 1 ERV/ALR sulfhydryl oxidase domain


    GFER for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALR_HUMAN, P55789
    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
    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)

         Genatlas biochemistry entry for GFER:
    growth factor homolog of yeast ERV1 gene,15.1kDa, (?involved in oxidative phosphorylation),identical to SazB/C
    locus (see D16S530E)

         Enzyme Number (IUBMB): EC 1.8.3.21

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12681488
    GO:0008083growth factor activity IEA--
    GO:0015035protein disulfide oxidoreductase activity IDA--
    GO:0016972thiol oxidase activity IEA--
    GO:0050660flavin adenine dinucleotide binding IDA--
         
    GFER for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GFER:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GFER 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GFER

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFER 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GFER 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFER
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GFER:
    hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidGFER 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GFER
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of GFER

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GFER (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GFER (NM_005262)
    Sino Biological Human cDNA Clone for GFER
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFER
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFER
    Sirion Biotech Customized lentivirus for stable overexpression of GFER 
                         Customized lentivirus expression plasmids for stable overexpression of GFER 

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    Search LifeMap BioReagents cell lines for GFER
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFER


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GFER About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/54 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GFER (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer


    2        Reactome Pathways for GFER
        Mitochondrial Protein Import
    Metabolism of proteins



    GFER for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GFER

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/37 Interacting proteins for GFER (P557892, 3 ENSP000002481144) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS8Q996272, 3, ENSP000003463404MINT-50638 MINT-50731 MINT-50628 MINT-50635 MINT-50627 I2D: score=1 STRING: ENSP00000346340
    COPS5Q929052, 3, ENSP000003505124MINT-50626 MINT-50637 MINT-50636 MINT-50625 I2D: score=3 STRING: ENSP00000350512
    COPS2P612012, 3, ENSP000002992594MINT-50629 MINT-50729 MINT-50639 MINT-50630 MINT-50634 I2D: score=2 STRING: ENSP00000299259
    GPS1Q130982, 3, ENSP000003472514MINT-50633 MINT-50640 MINT-50631 MINT-50730 MINT-50632 I2D: score=1 STRING: ENSP00000347251
    BNIPLQ7Z4653, ENSP000003579274I2D: score=3 STRING: ENSP00000357927
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0007283spermatogenesis NAS--
    GO:0008283cell proliferation NAS--
    GO:0044267cellular protein metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    GFER for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GFER for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GFER (ALR)

    1 HMDB Compound for GFER    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--

    1 DrugBank Compound for GFER    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flavin-Adenine Dinucleotide-- 146-14-5target--10592235

    1 Novoseek inferred chemical compound relationship for GFER gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 3.8 2 15683237 (1), 14500725 (1)

    Search CenterWatch for drugs/clinical trials and news about GFER / ALR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GFER gene: 
    NM_005262.2  

    Unigene Cluster for GFER:

    Growth factor, augmenter of liver regeneration
    Hs.27184  [show with all ESTs]
    Unigene Representative Sequence: NM_005262
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569451 ENST00000248114(uc002cob.3 uc002coc.3) ENST00000561710
    ENST00000565658 ENST00000567719
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFER
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GFER:
    hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidGFER 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFER
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFER
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    Additional mRNA sequence: 

    AF124603.1 AF124604.1 AF208342.1 AF306863.1 AY550027.1 BC002429.1 BC028348.2 U31176.1 

    6 DOTS entries:

    DT.446584  DT.75111124  DT.120657401  DT.100667953  DT.95320427  DT.95273315 

    24/96 AceView cDNA sequences (see all 96):

    AY550027 BU622978 BM701668 BM699603 BM696090 Z42613 AW024944 CK819932 
    CK819931 AW451842 AF124603 BU734265 AI951959 BM664375 BM823891 CA440890 
    BU634006 BC028348 BM141857 BM141862 BU625465 CA425087 BM142163 BX283260 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFER expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGGATAGG
    GFER Expression
    About this image


    See GFER Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFER

    SOURCE GeneReport for Unigene cluster: Hs.27184

    UniProtKB/Swiss-Prot: ALR_HUMAN, P55789
    Tissue specificity: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the
    muscle

        SABiosciences Custom PCR Arrays for GFER
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFER
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFER

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for GFER gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfer1 , 5 growth factor, erv1 (S. cerevisiae)-like (augmenter more1, 5 81.56(n)1
    78.17(a)1
      17 (12.48 cM)5
    116921  NM_023040.31  NP_075527.21 
     246931915 
    chicken
    (Gallus gallus)
    Aves GFER1 growth factor, augmenter of liver regeneration 63.92(n)
    60(a)
      416547  XM_414848.3  XP_414848.2 
    lizard
    (Anolis carolinensis)
    Reptilia GFER6
    Uncharacterized protein
    54(a)
    1 ↔ 1
    GL343650.1(143221-146882)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.110362 Xenopus laevis transcribed sequence with moderate similarity more 75.6(n)    CA981864.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gfer1 growth factor, augmenter of liver regeneration (ERV1 more 62.24(n)
    58.86(a)
      560433  NM_001089386.1  NP_001082855.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG125343
    Alr1
    flavin-linked sulfhydryl oxidase3
    Augmenter of liver regeneration1
    52(a)3
    59.26(n)1
    51.11(a)1
      18F13
    329911  NM_134509.21  NP_608353.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F56C11.31 , 3 Protein F56C11.31 52(a)3
    52.55(n)1
    48.18(a)1
      I(182139-182771)3
    1716111  NM_058289.31  NP_490690.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERV11 Erv1p 52.85(n)
    46.85(a)
      852916   NP_011543.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GFER gene
    1 SIMAP similar gene for GFER using alignment to 4 protein entries:     ALR_HUMAN (see all proteins):
    ALR

    GFER for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/170 SNPs in GFER are shown (see all 170)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081921,2,4
    CMyopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD)4 pathogenic11971001(+) TGAGCA/GCTGGC 2 H R mis10--------
    rs129184171,2
    C,F--1956977(+) aaaaaC/Aaaaaa 1 -- us2k1 trp32Minor allele frequency- A:0.50NA 4
    rs1859868461,2
    C--1967189(+) TCAGCA/CTCTAA 1 -- us2k10--------
    rs1150281261,2
    F--1967246(+) GTGTCT/CGTCCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs668742001,2
    C,F--1967269(+) TCTCAT/GGCCCT 1 -- us2k16Minor allele frequency- G:0.09NA CSA WA 246
    rs734960381,2
    C--1967316(+) CTGCTC/TACATA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs37852731,2
    C,F,H--1967338(-) GGGGAA/GCCCTG 1 -- us2k1 tfbs321Minor allele frequency- G:0.26EA NS NA WA CSA 3826
    rs37852721,2
    C,F,H--1967419(-) GTCTCC/TCCTGG 1 -- us2k119Minor allele frequency- T:0.14NS EA NA CSA WA 2344
    rs1446527581,2
    --1967473(+) ACAAGC/TAGAGG 1 -- us2k10--------
    rs778442791,2
    C,F--1967593(+) CTGAAT/GAGTAC 1 -- us2k11Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for GFER (2034150 - 2037750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for GFER (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    dgv336n27CNV Loss19166990
    dgv2545n71CNV Loss21882294
    dgv2546n71CNV Loss21882294
    nsv905082CNV Loss21882294
    nsv905048CNV Loss21882294
    dgv2551n71CNV Loss21882294
    dgv2540n71CNV Loss21882294
    nsv523037CNV Loss19592680
    nsv905091CNV Loss21882294


    Human Gene Mutation Database (HGMD): GFER
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GFER
    DNA2.0 Custom Variant and Variant Library Synthesis for GFER

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600924   
    OMIM disorders: 613076  
    UniProtKB/Swiss-Prot: ALR_HUMAN, P55789
  • 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20 diseases for GFER:    About MalaCards
    nodular regenerative hyperplasia    myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay    polycystic kidney disease    myopathy congenital
    hepatitis    kidney disease    viral hepatitis    cataract
    hepatoblastoma    myopathy    liver cirrhosis    tuberculosis
    neuroblastoma    t-cell leukemia    hepatocellular carcinoma    adenocarcinoma
    endotheliitis    pancreatitis    breast cancer    leukemia


    GFER for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GFER gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 12713870 (1)

    Genetic Association Database (GAD): GFER
    Human Genome Epidemiology (HuGE) Navigator: GFER (1 document)

    Export disorders for GFER gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFER gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with GFER)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. (PubMed id 8575761)1, 2, 3 Lisowsky T....Schneider M.C. (1995)
    2. Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription. (PubMed id 12180965)1, 2, 9 Li Y....He F. (2002)
    3. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. (PubMed id 19409522)1, 2, 9 Di Fonzo A....Comi G.P. (2009)
    4. An electron-transfer path through an extended disulfid e relay system: the case of the redox protein ALR. (PubMed id 22224850)1, 2 Banci L....Tokatlidis K. (2012)
    5. Molecular recognition and substrate mimicry drive the electron- transfer process between MIA40 and ALR. (PubMed id 21383138)1, 2 Banci L.... Tokatlidis K. (2011)
    6. Structure of the human sulfhydryl oxidase augmenter o f liver regeneration and characterization of a human mutation causing an autoso mal recessive myopathy . (PubMed id 20593814)1, 2 Daithankar V.N....Thorpe C. (2010)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Augmenter of liver regeneration: substrate specificit y of a flavin-dependent oxidoreductase from the mitochondrial intermembrane spa ce. (PubMed id 19397338)1, 2 Daithankar V.N....Thorpe C. (2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Stimulation of the mitogen-activated protein kinase cascade and tyrosine phosphorylation of the epidermal growth factor receptor by hepatopoietin. (PubMed id 10982794)1, 9 Li Y....He F. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2671 HGNC: 4236 AceView: GFER Ensembl:ENSG00000127554 euGenes: HUgn2671
    ECgene: GFER H-InvDB: GFER

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFER Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GFER gene:
    Search GeneIP for patents involving GFER

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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