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

GFER Gene

protein-coding   GIFtS: 60
GCID: GC16P002083

growth factor, augmenter of liver regeneration

(Previous names: growth factor, erv1 (S. cerevisiae)-like (augmenter of...)
 Explore 23 diseases affiliated with
GFER via our new
 Human Malady Compendium 
Biological research products
for GFER
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Growth Factor, Augmenter Of Liver Regeneration1 2     ERV1 Homolog2
ALR1 2 3 5     Erv1-Like Growth Factor2
HERV11 2 3     FAD-Linked Sulfhydryl Oxidase ALR2
ERV11 2 5     Hepatic Regenerative Stimulation Substance2
HPO11 2     Hepatopoietin Protein2
HPO21 2     EC 1.8.3.23
HSS1 2     Hepatopoietin3
HPO2 3     Augmenter Of Liver Regeneration3
Growth Factor, Erv1 (S. Cerevisiae)-Like (Augmenter Of Liver Regeneration)1     HERV11 2 3

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


(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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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 GC16P002083:  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55789

  • GFER Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005253.3  
    ENSEMBL proteins: 
     ENSP00000456432   ENSP00000248114   ENSP00000456189   ENSP00000455885  
    Reactome Protein details: P55789
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: GFER
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    Novus Biologicals GFER Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



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    Novus Biologicals GFER Antibody
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    Uscn Antibodies for GFER
    Search ThermoFisher Antibodies for GFER

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    Uscn ELISAs and CLIAs for GFER


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GFER for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB006863 Erv1/Alr

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    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
    Products:
        
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFER (see all 7)
    OriGene shRNA RFP: GFER
    OriGene siRNA: GFER
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GFER

    Gene Editing
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    Clone
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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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFER 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFER

    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/14 pathways (see all 14)
    Apoptotic Pathways in Synovial Fibroblasts1.00
    ERK5 Signaling0.61
    p53 Mediated Apoptosis0.84
    eIF2 Pathway0.60
    Mitochondrial Apoptosis0.73
    Rac1 Pathway0.58
    Telomerase Components in Cell Signaling0.72
    Nuclear Receptor Activation by Vitamin-A0.57
    2GPCR Pathway
    GPCR Pathway1.00
    Estrogen Pathway0.55
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.53
    NFAT in Immune Response0.58
    3Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    4TGF-Beta Pathway
    TGF-Beta Pathway1.00
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.50
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency1.00
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48

    Pathway sources
    See GeneCards unified pathways
    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): 4 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--


    GFER for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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.744156  [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

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    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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GFER

    Additional cDNA 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):

    BM699603 BM701668 BX283260 AW451842 AY550027 BU634006 BM712141 CK819931 
    CR616739 AI951959 BM696090 CA440890 BM141862 BM664375 BC028348 BM141857 
    CA314925 BU624003 AF124603 BM142163 BU622978 BM823891 BU734265 AW024944 

    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
    CGAP TAG: GTTGGATAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

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

    SOURCE GeneReport for Unigene cluster: Hs.744156

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

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    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 eukaryotes.

    Orthologs for GFER gene from 10/30 species (see all 30)    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
    --
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons Erv16
    Erv1/Alr-like protein
    26(a)
    1 ↔ 1
    1(18464017-18466077)
    rice
    (Oryza sativa)
    Liliopsida --
    FAD-linked sulfhydryl oxidase ALR, putative, expre...
    28(a)
    1 ↔ 1
    3(5572283-5575434)


    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/142 NCBI SNPs in GFER are shown (see all 142    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081921,2
    Cpathogenic3287987(+) TGAGCA/GCTGGC 2 H R mis10--------
    rs734960381,2
    C,--1956358(+) CTGCTC/TACATA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs778442791,2
    --1956635(+) CTGAAT/GAGTAC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs773042081,2
    C,F,--1957004(+) TATGAT/CAGCCA 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs775107401,2
    C,F,--1957175(+) TACAAC/TCCTCC 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs351558251,2
    C,F,--1957714(+) AGGACC/ACTAGC 1 -- us2k13Minor allele frequency- A:0.10NA CSA WA 122
    rs43050191,2
    C,--1957994(+) GCGTGC/AGCCGC 1 -- us2k13Minor allele frequency- A:0.14NA EA 242
    rs43050201,2
    C,--1958023(+) GCCAGC/GAGGGT 1 -- us2k12Minor allele frequency- G:0.21NA 122
    rs285789341,2
    F,--1958123(+) GCACCG/ACCCCC 1 -- us2k12Minor allele frequency- A:0.17NA EA 240
    rs561190171,2
    C,--1958190(+) CGGCTC/TCTGTG 1 -- us2k11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for GFER (2034150 - 2037750 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for GFER
         5 CNVs: 53306 29657 5329 30001 29656
    Human Gene Mutation Database (HGMD): GFER

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GFER for disorders           About GeneDecksing

    OMIM gene information: 600924   
    OMIM disorders: 613076  
    UniProtKB/Swiss-Prot: ALR_HUMAN, P55789
  • Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and
  • developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency

    20/23 diseases for GFER (see all 23):    About MalaCards
    myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay    polycystic kidney disease    hepatitis    kidney disease
    nodular regenerative hyperplasia    congenital cataracts    cataract    myopathy
    viral hepatitis    liver cirrhosis    hepatoblastoma    hepatocellular carcinoma
    t-cell leukemia    twinning    leukemia    neuroblastoma
    tuberculosis    carcinoma    malaria    mycobacterium tuberculosis

    1 Novoseek 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)

    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 77):
    (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. 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)
    8. 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)
    9. 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)
    10. The potentiation role of hepatopoietin on activator protein-1 is dependent on its sulfhydryl oxidase activity. (PubMed id 14500725)1, 9 Chen X....He F. (2003)

    (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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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