GFRA1

GDNF family receptor alpha-1 (GFRα1), also known as the GDNF receptor, is a protein that in humans is encoded by the GFRA1 gene.^[5][6]

GFRA1
Identifiers
Aliases	GFRA1, GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1, GDNF family receptor alpha 1
External IDs	OMIM: 601496; MGI: 1100842; HomoloGene: 3855; GeneCards: GFRA1; OMA:GFRA1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.3 Start 116,056,925 bp[1] End 116,273,467 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 D2|19 54.18 cM Start 58,224,036 bp[2] End 58,444,341 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trigeminal ganglion spinal ganglia pars reticulata parietal pleura corpus epididymis lactiferous duct pars compacta nipple left uterine tube cardia Top expressed in vestibular membrane of cochlear duct habenula facial motor nucleus dentate gyrus of hippocampal formation granule cell left lobe of liver lateral septal nucleus iris medullary collecting duct ciliary body substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding glial cell-derived neurotrophic factor receptor activity signaling receptor activity Cellular component anchored component of membrane extracellular exosome membrane extrinsic component of membrane intracellular anatomical structure plasma membrane external side of plasma membrane receptor complex Biological process cell surface receptor signaling pathway nervous system development MAPK cascade glial cell-derived neurotrophic factor receptor signaling pathway axon guidance regulation of molecular function Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2674 14585 Ensembl ENSG00000151892 ENSMUSG00000025089 UniProt P56159 P97785 RefSeq (mRNA) NM_001145453 NM_005264 NM_145793 NM_001348096 NM_001348098 NM_001348099 NM_001285457 NM_010279 RefSeq (protein) NP_001138925 NP_005255 NP_665736 NP_001335025 NP_001335027 NP_001335028 NP_001369485 NP_001369486 NP_001369487 NP_001369488 NP_001369489 NP_001369490 NP_001272386 NP_034409 Location (UCSC) Chr 10: 116.06 – 116.27 Mb Chr 19: 58.22 – 58.44 Mb PubMed search [3] [4]
Wikidata
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Function

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. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene.^[7]

Interactions

GDNF family receptor alpha 1 has been shown to interact with GDNF^[8][9] and RET proto-oncogene.^[9][10]

See also

• GFRα