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    GFRA1 GDNF family receptor alpha 1 [ Homo sapiens (human) ]

    Gene ID: 2674, updated on 13-Apr-2024

    Summary

    Official Symbol
    GFRA1provided by HGNC
    Official Full Name
    GDNF family receptor alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:4243
    See related
    Ensembl:ENSG00000151892 MIM:601496; AllianceGenome:HGNC:4243
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDNFR; RET1L; RETL1; RHDA4; TRNR1; GDNFRA; GFRalpha-1; GFR-ALPHA-1; GDNFR-alpha-1
    Summary
    This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. 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. This receptor 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. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in fat (RPKM 5.5), brain (RPKM 4.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GFRA1 in Genome Data Viewer
    Location:
    10q25.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116056925..116274705, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (116951015..117168680, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (117816436..118034217, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene attractin like 1 Neighboring gene uncharacterized LOC105378497 Neighboring gene N-terminal asparagine amidase pseudogene 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:117734419-117735117 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:117735118-117735816 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:117755064-117755832 Neighboring gene Sharpr-MPRA regulatory region 9774 Neighboring gene small nucleolar RNA, C/D box 158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118032883-118033720 Neighboring gene uncharacterized LOC107984273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2854 Neighboring gene coiled-coil domain containing 172 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Renal hypodysplasia/aplasia 4
    MedGen: C5676993 OMIM: 619887 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of GDNF family receptor alpha 1 (GFRA1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10561, FLJ31546, MGC23045, DKFZp313E1012, DKFZp686J0156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glial cell-derived neurotrophic factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables neurotrophin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    involved_in neuron projection development IEA
    Inferred from Electronic Annotation
    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
     
    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
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    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 plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of plasma membrane protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GDNF family receptor alpha-1
    Names
    GDNF receptor alpha 1d
    GDNF receptor alpha 1e
    GPI-linked anchor protein
    Glial cell line-derived neurotrophic factor receptor alpha
    PI-linked cell-surface accessory protein
    RET ligand 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.

    Genomic

    1. NG_050620.1 RefSeqGene

      Range
      5440..221721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145453.4NP_001138925.1  GDNF family receptor alpha-1 isoform b precursor

      See identical proteins and their annotated locations for NP_001138925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal in-frame coding segment compared to variant 1, resulting in a shorter isoform (b). The encoded isoform (b) may undergo proteolytic processing similar to isoform a. Variants 2-4 and 8-11 all encode the same isoform (b).
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Related
      ENSP00000507970.1, ENST00000682743.1
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    2. NM_001348096.3NP_001335025.1  GDNF family receptor alpha-1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform b. Variants 2-4 and 8-11 all encode the same isoform (b).
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Related
      ENSP00000393725.3, ENST00000439649.8
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    3. NM_001348098.4NP_001335027.1  GDNF family receptor alpha-1 isoform a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS44481.1
      UniProtKB/Swiss-Prot
      A8KA21, O15507, O43912, P56159
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:29111
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain
    4. NM_001348099.3NP_001335028.1  GDNF family receptor alpha-1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC012470, AC073588
      UniProtKB/TrEMBL
      B7Z856
      Conserved Domains (1) summary
      pfam02351
      Location:122216
      GDNF; GDNF/GAS1 domain
    5. NM_001382556.2NP_001369485.1  GDNF family receptor alpha-1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 2-4 and 9-11, encodes isoform b.
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    6. NM_001382557.2NP_001369486.1  GDNF family receptor alpha-1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 2-4, 8, 10, and 11, encodes isoform b.
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    7. NM_001382558.2NP_001369487.1  GDNF family receptor alpha-1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 2-4, 8, 9, and 11, encodes isoform b.
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Related
      ENSP00000506818.1, ENST00000684105.1
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    8. NM_001382559.2NP_001369488.1  GDNF family receptor alpha-1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 2-4 and 8-10, encodes isoform b.
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    9. NM_001382560.2NP_001369489.1  GDNF family receptor alpha-1 isoform d precursor

      Status: REVIEWED

      Source sequence(s)
      AC012470, AC073588
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    10. NM_001382561.2NP_001369490.1  GDNF family receptor alpha-1 isoform e precursor

      Status: REVIEWED

      Source sequence(s)
      AC012470, AC073588
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain
    11. NM_005264.8NP_005255.1  GDNF family receptor alpha-1 isoform a preproprotein

      See identical proteins and their annotated locations for NP_005255.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 6 both encode the same isoform (a).
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS44481.1
      UniProtKB/Swiss-Prot
      A8KA21, O15507, O43912, P56159
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Related
      ENSP00000347591.6, ENST00000355422.11
      Conserved Domains (2) summary
      smart00907
      Location:29111
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:243337
      GDNF; GDNF/GAS1 domain
    12. NM_145793.7NP_665736.1  GDNF family receptor alpha-1 isoform b precursor

      See identical proteins and their annotated locations for NP_665736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame coding segment compared to variant 1, resulting in a shorter isoform (b). The encoded isoform (b) may undergo proteolytic processing similar to isoform a. Variants 2-4 and 8-11 all encode the same isoform (b).
      Source sequence(s)
      AC012470, AC073588
      Consensus CDS
      CCDS7593.1
      UniProtKB/TrEMBL
      A0A7R7YCG5
      Related
      ENSP00000358239.1, ENST00000369236.5
      Conserved Domains (2) summary
      smart00907
      Location:149228
      GDNF; GDNF/GAS1 domain
      pfam02351
      Location:238332
      GDNF; GDNF/GAS1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      116056925..116274705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      116951015..117168680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)