Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GFRA1 Gene

protein-coding   GIFtS: 65
GCID: GC10M117813

GDNF Family Receptor Alpha 1


(Previous symbol: GDNFRA)
  See GFRA1-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

TryGeneCards Plus

Aliases
GDNF Family Receptor Alpha 11 2     GFR-ALPHA-12
GDNFRA1 2 3 5     RET1L2
GDNFR-alpha-12 3     GDNF Family Receptor Alpha-12
RETL12 3     Glial Cell Line-Derived Neurotrophic Factor Receptor Alpha2
TRNR12 3     GPI-Linked Anchor Protein2
GDNF Receptor Alpha-12 3     PI-Linked Cell-Surface Accessory Protein2
RET Ligand 12 3     TGF-Beta Related Neurotrophic Factor Receptor 12
TGF-Beta-Related Neurotrophic Factor Receptor 12 3     GFR-alpha-13
GDNFR2 5     

External Ids:    HGNC: 42431   Entrez Gene: 26742   Ensembl: ENSG000001518927   OMIM: 6014965   UniProtKB: P561593   

Export aliases for GFRA1 gene to outside databases

Previous GC identifers: GC10M116742 GC10M117066 GC10M117954 GC10M117487 GC10M111444


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

TryGeneCards Plus

Entrez Gene summary for GFRA1 Gene:
Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent
neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein
encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked
cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This
gene is a candidate gene for Hirschsprung disease. Multiple alternatively spliced transcript variants have been
described for this gene. (provided by RefSeq, Feb 2009)

GeneCards Summary for GFRA1 Gene:
GFRA1 (GDNF family receptor alpha 1) is a protein-coding gene. Diseases associated with GFRA1 include multiple endocrine neoplasia type 2a, and congenital central hypoventilation syndrome. GO annotations related to this gene include integrin binding and receptor binding. An important paralog of this gene is GFRA3.

UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159
Function: Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By
similarity)

Gene Wiki entry for GFRA1 (GDNF family receptor alpha 1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GFRA1 gene promoter:
         TBP   Sp1   Zic3   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GFRA1 promoter sequence
   Search Chromatin IP Primers for GFRA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GFRA1


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

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q25.3   HGNC cytogenetic band: 10q25-q26

GFRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFRA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M117813:  view genomic region     (about GC identifiers)

Start:
117,816,436 bp from pter      End:
118,033,126 bp from pter
Size:
216,691 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 (See protein sequence)
Recommended Name: GDNF family receptor alpha-1 precursor  
Size: 465 amino acids; 51456 Da
Subunit: 2 molecules of GDNFR-alpha are thought to form a complex with the disulfide-linked GDNF dimer and with 2
molecules of RET (By similarity)
Secondary accessions: A8KA21 O15507 O43912
Alternative splicing: 2 isoforms:  P56159-1   P56159-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for GFRA1: NX_P56159

Explore proteomics data for GFRA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn59, Asn347, Asn406, Thr432, Thr433
  • Modification sites at PhosphoSitePlus

  • See GFRA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138925.1  NP_005255.1  NP_665736.1  

    ENSEMBL proteins: 
     ENSP00000358239   ENSP00000347591   ENSP00000358237   ENSP00000393725   ENSP00000442179  
    Reactome Protein details: P56159

    GFRA1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GFRA1 (GFR alpha-1/GDNF R alpha-1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for GFRA1
    OriGene Protein Over-expression Lysate for GFRA1
    OriGene MassSpec for GFRA1
    OriGene Custom Protein Services for GFRA1
    GenScript Custom Purified and Recombinant Proteins Services for GFRA1
    Novus Biologicals GFRA1 Proteins
    Novus Biologicals GFRA1 Lysates
    Sino Biological Recombinant Protein for GFRA1
    Sino Biological Cell Lysate for GFRA1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GFRA1 

    GFRA1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for GFRA1 (GFR alpha-1/GDNF R alpha-1)
    OriGene Antibodies for GFRA1
    OriGene Custom Antibody Services for GFRA1
    Novus Biologicals GFRA1 Antibodies
    Abcam antibodies for GFRA1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for GFRA1
    LSBio Antibodies in human, mouse, rat for GFRA1

    GFRA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GFRA1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GFRA1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GFRA1 


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

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: GDNF family receptor alpha1
    GDNF receptor family

    4 InterPro protein domains:
     IPR016017 GDNF/GAS1
     IPR003438 GDNF_rcpt
     IPR017372 Glial_neurotroph_fac_rcpt_a1/2
     IPR003503 GDNF_rcpt_A1

    Graphical View of Domain Structure for InterPro Entry P56159

    ProtoNet protein and cluster: P56159

    2 Blocks protein domains:
    IPB003438 Glial cell line-derived neurotrophic factor receptor family signature
    IPB003503 Glial cell line-derived neurotrophic factor receptor alpha 1 signature


    UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159
    Similarity: Belongs to the GDNFR family


    Find genes that share domains with GFRA1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GFRA1_HUMAN, P56159
    Function: Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By
    similarity)

         Genatlas biochemistry entry for GFRA1:
    glial cell line derived neurotrophic factor (GDNF) receptor alpha-1,also receptor for neurturin,not (commonly)
    mutated in Hirschsprung disease,mediating the action of Ret protein receptor tyrosine kinase

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0005102receptor binding TAS9545641
    GO:0005178integrin binding ----
    GO:0016167glial cell-derived neurotrophic factor receptor activity TAS10829012
         
    Find genes that share ontologies with GFRA1           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gfra1):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  immune system 
     integument  mortality/aging  muscle  nervous system  normal 
     renal/urinary system 

    Find genes that share phenotypes with GFRA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GFRA1: Gfra1tm1Jmi Gfra1tm1Bjh Gfra1tm1Rosl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFRA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GFRA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFRA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GFRA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GFRA1:
    hsa-mir-148b-3p (MIRT019251), hsa-mir-7-5p (MIRT025678)

    Block miRNA regulation of human, mouse, rat GFRA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GFRA1 (see all 88):
    hsa-miR-194* hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-519a hsa-miR-29a* hsa-miR-3148 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidGFRA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GFRA1
    Predesigned siRNA for gene silencing in human, mouse, rat GFRA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GFRA1

    Clone
    Products:
         
    OriGene clones in human, mouse for GFRA1 (see all 16)
    OriGene ORF clones in mouse, rat for GFRA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GFRA1 (NM_005264)
    Sino Biological Human cDNA Clone for GFRA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFRA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFRA1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GFRA1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GFRA1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFRA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GFRA1_HUMAN, P56159: Cell membrane; Lipid-anchor, GPI-anchor (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytosol1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ----
    GO:0005886plasma membrane IEA--
    GO:0009897external side of plasma membrane ----
    GO:0019898extrinsic component of membrane TAS10829012
    GO:0030424axon ----

    Find genes that share ontologies with GFRA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for GFRA1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Development EGFR signaling pathway
    Development GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.41
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3NCAM signaling for neurite out-growth
    NCAM1 interactions0.59
    NCAM signaling for neurite out-growth0.59
    4TGF-beta Signaling Pathway (sino)
    TGF-beta Signaling Pathway
    5Signaling events regulated by Ret tyrosine kinase
    Signaling events regulated by Ret tyrosine kinase


    Find genes that share SuperPaths with GFRA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GFRA1
        GDNF-Family Ligands and Receptor Interactions

    2 GeneGo (Thomson Reuters) Pathways for GFRA1
        G-protein signaling H-RAS regulation pathway
    Development GDNF family signaling

    2 BioSystems Pathways for GFRA1
        Diurnally regulated genes with circadian orthologs
    Signaling events regulated by Ret tyrosine kinase

    1 Sino Biological Pathway for GFRA1
        TGF-beta Signaling Pathway

    1 Reactome Pathway for GFRA1
        NCAM1 interactions


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GFRA1: 
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GFRA1

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

    Selected Interacting proteins for GFRA1 (P561593 ENSP000003937254) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDNFP399053, ENSP000003171454I2D: score=3 STRING: ENSP00000317145
    NRTNQ997483, ENSP000003026484I2D: score=2 STRING: ENSP00000302648
    RETP079493, ENSP000003479424I2D: score=2 STRING: ENSP00000347942
    NCAM1P135913, ENSP000003184724I2D: score=1 STRING: ENSP00000318472
    ARTNENSP000003919984STRING: ENSP00000391998
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development ----
    GO:0007166cell surface receptor signaling pathway NAS8674117
    GO:0007399nervous system development ----
    GO:0007411axon guidance TAS--
    GO:0008584male gonad development ----

    Find genes that share ontologies with GFRA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for GFRA1

    1 IUPHAR Ligand for GFRA1 (GDNF family receptor alpha1)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]GDNF (rat)
    NoneNone10.2 - 11.528657309 9192898

    8 Novoseek inferred chemical compound relationships for GFRA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 68.1 46 9108413 (1), 9576965 (1), 11002419 (1), 18089803 (1) (see all 40)
    heparan sulfate 23.5 1 12626395 (1)
    phosphatidylinositol 20.1 1 11846482 (1)
    bromodeoxyuridine 11.4 1 11079571 (1)
    heparin 7.22 10 17298301 (3), 12626395 (2)
    lipid 0 5 11182089 (2), 11476867 (1), 11106404 (1), 10774729 (1)
    cysteine 0 1 9407096 (1)
    dopamine 0 1 9262196 (1)



    Find genes that share compounds with GFRA1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GFRA1 gene (3 alternative transcripts): 
    NM_001145453.1  NM_005264.4  NM_145793.3  

    Unigene Cluster for GFRA1:

    GDNF family receptor alpha 1
    Hs.388347  [show with all ESTs]
    Unigene Representative Sequence: NM_005264
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369236 ENST00000355422 ENST00000369234 ENST00000490345 ENST00000439649(uc001lci.3 uc001lcj.3 uc009xyr.3)
    ENST00000544592
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GFRA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GFRA1 (see all 88):
    hsa-miR-194* hsa-miR-607 hsa-miR-300 hsa-miR-342-3p hsa-miR-519a hsa-miR-29a* hsa-miR-3148 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidGFRA1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GFRA1
    Predesigned siRNA for gene silencing in human, mouse, rat GFRA1
    Clone
    Products:
         
    OriGene clones in human, mouse for GFRA1 (see all 16)
    OriGene ORF clones in mouse, rat for GFRA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GFRA1 (NM_005264)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFRA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFRA1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GFRA1
    OriGene qSTAR qPCR primer pairs in human, mouse for GFRA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GFRA1
      QuantiTect SYBR Green Assays in human, mouse, rat GFRA1
      QuantiFast Probe-based Assays in human, mouse, rat GFRA1

    Additional mRNA sequence: 

    AF038421.1 AF042080.1 AK001423.1 AK056108.1 AK292886.1 AK302914.1 AL832661.1 BC014962.1 
    BX648964.1 U97144.1 

    8 DOTS entries:

    DT.444548  DT.95193991  DT.121301711  DT.99930465  DT.100744652  DT.121301702  DT.311101  DT.92429609 

    Selected AceView cDNA sequences (see all 68):

    BX106828 AF042080 BM669624 BG696764 BX953721 BX953798 BU860284 AI092346 
    AI804110 CA449277 AI049675 CA454015 BU935138 BX427432 BI761045 BF569748 
    BQ005352 AI638398 AF038421 AI024284 BU956631 AA846798 CB161940 AA573164 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    GFRA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCTCAC
    GFRA1 Expression
    About this image


    GFRA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 5 entries
             Odontoblasts Dentin
             Dentin
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Testis (Reproductive System)
             Long-time differentiated EBs
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
             Retina
     
     Epithelial Cells
             Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
    GFRA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFRA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.388347
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GFRA1: 
              Neurotrophins & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GFRA1
    OriGene qSTAR qPCR primer pairs in human, mouse for GFRA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GFRA1
    QuantiTect SYBR Green Assays in human, mouse, rat GFRA1
    QuantiFast Probe-based Assays in human, mouse, rat GFRA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFRA1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for GFRA1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfra11 , 5 glial cell line derived neurotrophic factor family more1, 5 88.96(n)1
    93.55(a)1
      19 (54.18 cM)5
    145851  NM_010279.31  NP_034409.11 
     582356045 
    chicken
    (Gallus gallus)
    Aves GFRA11 GDNF family receptor alpha 1 77.75(n)
    80.74(a)
      395994  NM_205102.1  NP_990433.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFRA16
    GDNF family receptor alpha 1
    75(a)
    1 ↔ 1
    GL343206.1(2296305-2587033)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.124132 Transcribed sequence with weak similarity to protein more 82.22(n)    BX709568.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF329855.12   -- 76.68(n)   79377  AF329855.1 


    ENSEMBL Gene Tree for GFRA1 (if available)
    TreeFam Gene Tree for GFRA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GFRA1 gene
    GFRA32  GFRA22  GFRA42  
    2 SIMAP similar genes for GFRA1 using alignment to 3 protein entries:     GFRA1_HUMAN (see all proteins):
    GFRA2    GDNFR3

    Find genes that share paralogs with GFRA1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GFRA1 (see all 4858)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714751711,2
    C--111519324(+) AAAAA-/AAAA  
      
    /AAAAA
    GGCCA
    3 -- int11NA 2
    rs572225821,2
    C,F--117816003(+) CCAGTG/TCTGTC 3 -- ds50013Minor allele frequency- T:0.13WA CSA 122
    rs1498264841,2
    --117816084(+) AAATAC/TTGGCT 3 -- ds50010--------
    rs1887532831,2
    --117816158(+) ACCACA/GAAGTG 3 -- ds50010--------
    rs1913019061,2
    --117816183(+) CCAAAG/TGATGC 3 -- ds50010--------
    rs1834912961,2
    --117816269(+) TAGTAC/GCAAGG 3 -- ds50010--------
    rs1886157111,2
    --117816287(+) GCCATA/GGTCTG 3 -- ds50010--------
    rs2014510961,2
    --117816436(+) AATGA-/TTTTTT 3 -- ut310--------
    rs1805551,2
    C,F,A,H--117816443(-) TTTTTA/TAAAAA 3 -- ut314Minor allele frequency- T:0.17NA WA EA 360
    rs1159662051,2
    C,F--117816456(+) AAAACA/CATGTT 3 -- ut311Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for GFRA1 (117816436 - 118033126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GFRA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1995539CNV Deletion18987734
    esv2741262CNV Deletion23290073
    esv2076195CNV Deletion18987734
    esv2741251CNV Deletion23290073
    esv2741239CNV Deletion23290073
    esv34187CNV Loss18971310
    nsv832000CNV Gain17160897
    nsv519769CNV Gain19592680
    nsv7211OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): GFRA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GFRA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GFRA1

    (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

    TryGeneCards Plus
    OMIM gene information: 601496    OMIM disorders: --

    4 diseases for GFRA1:    
    About MalaCards
    multiple endocrine neoplasia type 2a    congenital central hypoventilation syndrome    central hypoventilation syndrome    hirschsprung's disease

    2 diseases from the University of Copenhagen DISEASES database for GFRA1:
    Hirschsprung's disease     Renal agenesis

    Find genes that share disorders with GFRA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GFRA1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 73.5 3 9545641 (1), 9465906 (1), 10812967 (1)
    thyroid carcinoma medullary 66.4 1 12490080 (1)
    men 2a 63.3 3 11979448 (2)
    paroxysmal hemoglobinuria nocturnal 46.6 1 8890572 (1)
    somatic mutations 42.2 1 8890572 (1)
    pheochromocytoma 35.5 1 9000574 (1)
    neuroendocrine tumors 30.9 1 9284737 (1)
    prolactinoma 28.6 1 11932334 (1)
    pituitary tumors 19.8 1 11932334 (1)
    pancreatic cancer 16.4 6 19188437 (2), 16357163 (1), 16269310 (1)

    Genetic Association Database (GAD): GFRA1
    Human Genome Epidemiology (HuGE) Navigator: GFRA1 (10 documents)

    Export disorders for GFRA1 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

    TryGeneCards Plus

    PubMed articles for GFRA1 gene, integrated from 10 sources (see all 176):
    (articles sorted by number of sources associating them with GFRA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. (PubMed id 9545641)1, 2, 3, 9 Angrist M.... Chakravarti A. (Genomics 1998)
    2. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PubMed id 9177201)1, 2, 9 Sanicola M.... Cate R.L. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)1, 2, 9 Sasaki A.... Hayasaka K. (Hum. Genet. 2003)
    4. Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. (PubMed id 12490080)1, 4, 9 Borrego S....AntiA+olo G. (Thyroid 2002)
    5. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (PubMed id 19282698)1, 4, 9 Pini Prato A....Jasonni V. (Medicine (Baltimore) 2009)
    6. Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization. (PubMed id 9465905)1, 3, 9 Gorodinsky A....Milbrandt J. (Cytogenet. Cell Genet. 1997)
    7. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    10. [RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients]. (PubMed id 16813162)1, 4 Severskaia N.V....Iasmita S. (Mol. Biol. (Mosk.) 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 2674 HGNC: 4243 AceView: GFRA1 Ensembl:ENSG00000151892 euGenes: HUgn2674
    ECgene: GFRA1 H-InvDB: GFRA1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GFRA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GFRA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GFRA1 gene:
    Search GeneIP for patents involving GFRA1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for GFRA1 (GFR alpha-1/GDNF R alpha-1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for GFRA1 (GFR alpha-1/GDNF R alpha-1)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GFRA1   OriGene RNAi products in human, mouse, rat for GFRA1  
     OriGene qPCR primer pairs and template standards for GFRA1   OriGene Protein Over-expression Lysate for GFRA1  
     OriGene MassSpec something-or-other for GFRA1   OriGene clones in human, mouse for GFRA1  
     OriGene qSTAR qPCR primer pairs in human, mouse for GFRA1   OriGene Purified Protein for GFRA1  
     OriGene ORF clones in mouse, rat for GFRA1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GFRA1   OriGene Custom Protein Services for GFRA1  

     
     
     Block miRNA regulation of human, mouse, rat GFRA1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GFRA1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GFRA1 Predesigned siRNA for gene silencing in human, mouse, rat GFRA1
     QuantiFast Probe-based Assays in human, mouse, rat GFRA1 QuantiTect SYBR Green Assays in human, mouse, rat GFRA1
     PCR Arrays including human, mouse, rat GFRA1 Search Chromatin IP Primers for GFRA1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GFRA1  GeneGlobe Interaction Network for GFRA1
     Regulatory tfbs in GFRA1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GFRA1 GenScript cDNA clones with any tag delivered in your preferred vector for GFRA1
     GenScript Custom Assay Services for GFRA1 GenScript Custom overexpressing Cell Line Services for GFRA1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GFRA1
     Proteins for GFRA1
     Cell Lysates for GFRA1
     cDNA Clones for GFRA1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GFRA1 antibodies
     GFRA1 proteins
     GFRA1 lysates
     Antibodies for GFRA1
     See all of Abcam's Antibodies, Kits and Proteins for GFRA1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for GFRA1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFRA1
     SwitchGear 3'UTR luciferase reporter plasmids for GFRA1
     SwitchGear Promoter luciferase reporter plasmids for GFRA1
     ThermoFisher Antibodies for GFRA1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFRA1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFRA1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GFRA1
     LSBio Antibodies in human, mouse, rat for GFRA1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for GFRA1
      Search eBioscience for proteins for GFRA1
      Search eBioscience for elisas for GFRA1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GFRA1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4