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    Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 14585, updated on 3-Dec-2024

    Summary

    Official Symbol
    Gfra1provided by MGI
    Official Full Name
    glial cell line derived neurotrophic factor family receptor alpha 1provided by MGI
    Primary source
    MGI:MGI:1100842
    See related
    Ensembl:ENSMUSG00000025089 AllianceGenome:MGI:1100842
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GFRalpha-1
    Summary
    This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in genital fat pad adult (RPKM 19.8), liver adult (RPKM 7.7) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gfra1 in Genome Data Viewer
    Location:
    19 D2; 19 54.18 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (58224013..58444387, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (58235581..58455946, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene attractin like 1 Neighboring gene STARR-seq mESC enhancer starr_46571 Neighboring gene microRNA 5623 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:58218359-58218542 Neighboring gene predicted gene, 50287 Neighboring gene STARR-seq mESC enhancer starr_46573 Neighboring gene predicted gene, 46650 Neighboring gene predicted gene 10007 Neighboring gene VISTA enhancer mm445 Neighboring gene VISTA enhancer mm916 Neighboring gene predicted gene, 41876 Neighboring gene predicted gene, 33306

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (12)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glial cell-derived neurotrophic factor receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables glial cell-derived neurotrophic factor receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables integrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables neurotrophin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables neurotrophin receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell surface receptor protein tyrosine kinase signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neurotrophin signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extrinsic component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in multivesicular body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of plasma membrane protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of plasma membrane protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-1
    Names
    GDNF receptor alpha 1 (GFRa-1)
    GDNF receptor alpha 1c
    GDNF receptor alpha 1d
    GDNF receptor alpha 1e
    GDNFR-alpha-1
    GFR alpha-1
    TGF-beta-related neurotrophic factor receptor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001285457.3NP_001272386.1  GDNF family receptor alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001272386.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an exon in the central coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC102457, AC102610
      Consensus CDS
      CCDS70967.1
      UniProtKB/TrEMBL
      A0A097BVN3
      Related
      ENSMUSP00000117196.2, ENSMUST00000129100.8
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    2. NM_001410348.1NP_001397277.1  GDNF family receptor alpha-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC102457, AC102610
      UniProtKB/TrEMBL
      A0A097BVN3
    3. NM_010279.4NP_034409.1  GDNF family receptor alpha-1 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_034409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC102457, AC102610
      Consensus CDS
      CCDS38028.1
      UniProtKB/Swiss-Prot
      O35246, O35252, P97785
      UniProtKB/TrEMBL
      A0A097BVN3
      Related
      ENSMUSP00000026076.8, ENSMUST00000026076.14
      Conserved Domains (2) summary
      smart00907
      Location:154233
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain

    RNA

    1. NR_104342.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC102457, AC102610

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      58224013..58444387 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526681.2XP_006526744.1  GDNF family receptor alpha-1 isoform X1

      See identical proteins and their annotated locations for XP_006526744.1

      UniProtKB/Swiss-Prot
      O35246, O35252, P97785
      UniProtKB/TrEMBL
      A0A097BVN3
      Conserved Domains (2) summary
      smart00907
      Location:154233
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain
    2. XM_006526682.1XP_006526745.1  GDNF family receptor alpha-1 isoform X1

      See identical proteins and their annotated locations for XP_006526745.1

      UniProtKB/Swiss-Prot
      O35246, O35252, P97785
      UniProtKB/TrEMBL
      A0A097BVN3
      Conserved Domains (2) summary
      smart00907
      Location:154233
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain
    3. XM_006526684.1XP_006526747.1  GDNF family receptor alpha-1 isoform X1

      See identical proteins and their annotated locations for XP_006526747.1

      UniProtKB/Swiss-Prot
      O35246, O35252, P97785
      UniProtKB/TrEMBL
      A0A097BVN3
      Conserved Domains (2) summary
      smart00907
      Location:154233
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain
    4. XM_006526683.5XP_006526746.1  GDNF family receptor alpha-1 isoform X1

      See identical proteins and their annotated locations for XP_006526746.1

      UniProtKB/Swiss-Prot
      O35246, O35252, P97785
      UniProtKB/TrEMBL
      A0A097BVN3
      Related
      ENSMUSP00000130128.2, ENSMUST00000169850.8
      Conserved Domains (2) summary
      smart00907
      Location:154233
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain