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].

GDNF family receptor alpha 1MIM:601496Ensembl:ENSG00000151892HGNC:HGNC:4243PA2865310q25.3

GO terms in GFRA1

Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0005088Ras guanyl-nucleotide exchange factor activity
MFTASGO:0005102signaling receptor binding
MFTASGO:0016167glial cell-derived neurotrophic factor receptor activity
BPTASGO:0000165MAPK cascade
BPIBAGO:0007165signal transduction
BPNASGO:0007166cell surface receptor signaling pathway
BPIBAGO:0007399nervous system development
BPTASGO:0007411axon guidance
BPIEAGO:0035860glial cell-derived neurotrophic factor receptor signaling pathway
CCTASGO:0005886plasma membrane
CCIBAGO:0009897external side of plasma membrane
CCTASGO:0019898extrinsic component of membrane
CCIEAGO:0031225anchored component of membrane
CCIBAGO:0043235receptor complex
CCHDAGO:0070062extracellular exosome

Gene expression in normal tissue: GFRA1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in GFRA1

DatabasePathway IDPathway Des.
wikipathwaysWP410Exercise-induced Circadian Regulation
pidajdiss_2pathwayPosttranslational regulation of adherens junction stability and dissassembly
pidret_pathwaySignaling events regulated by Ret tyrosine kinase
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-375165NCAM signaling for neurite out-growth
reactomeR-HSA-419037NCAM1 interactions
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-5673001RAF/MAP kinase cascade
reactomeR-HSA-5683057MAPK family signaling cascades
reactomeR-HSA-5684996MAPK1/MAPK3 signaling
reactomeR-HSA-8853659RET signaling

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GFRA1