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

Gene ID: 2674, updated on 14-Jun-2020

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
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; TRNR1; GDNFRA; GFR-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

Genomic context

See GFRA1 in Genome Data Viewer
Location:
10q25.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (116056925..116274705, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (117816436..118033126, 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 small nucleolar RNA, C/D box 158 Neighboring gene uncharacterized LOC107984273 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ10561, FLJ31546, MGC23045, DKFZp313E1012, DKFZp686J0156

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glial cell-derived neurotrophic factor receptor activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
cell surface receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
glial cell-derived neurotrophic factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GDNF family receptor alpha-1
Names
GDNFR-alpha-1
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)

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/Swiss-Prot
    P56159
    Related
    ENSP00000393725.3, ENST00000439649.7
    Conserved Domains (2) summary
    smart00907
    Location:29111
    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/Swiss-Prot
    P56159
    Conserved Domains (2) summary
    smart00907
    Location:29111
    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
    P56159
    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
  6. NM_001382557.2NP_001369486.1  GDNF family receptor alpha-1 isofom 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
  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
  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
  9. NM_001382560.2NP_001369489.1  GDNF family receptor alpha-1 isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AC012470, AC073588
  10. NM_001382561.2NP_001369490.1  GDNF family receptor alpha-1 isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AC012470, AC073588
  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
    P56159
    Related
    ENSP00000347591.6, ENST00000355422.10
    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/Swiss-Prot
    P56159
    Related
    ENSP00000358239.1, ENST00000369236.5
    Conserved Domains (2) summary
    smart00907
    Location:29111
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:238332
    GDNF; GDNF/GAS1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539634.2XP_011537936.1  GDNF family receptor alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_011537936.1

    UniProtKB/Swiss-Prot
    P56159
    Related
    ENSP00000358237.4, ENST00000369234.4
    Conserved Domains (2) summary
    smart00907
    Location:29111
    GDNF; GDNF/GAS1 domain
    pfam02351
    Location:243337
    GDNF; GDNF/GAS1 domain
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