GFRA1
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| GDNF family receptor alpha 1 | MIM:601496 | Ensembl:ENSG00000151892 | HGNC:HGNC:4243 | PA28653 | 10q25.3 |
GO terms in GFRA1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005088 | Ras guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005102 | signaling receptor binding |
| MF | TAS | GO:0016167 | glial cell-derived neurotrophic factor receptor activity |
| BP | TAS | GO:0000165 | MAPK cascade |
| BP | IBA | GO:0007165 | signal transduction |
| BP | NAS | GO:0007166 | cell surface receptor signaling pathway |
| BP | IBA | GO:0007399 | nervous system development |
| BP | TAS | GO:0007411 | axon guidance |
| BP | IEA | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway |
| CC | IEA | GO:0005622 | intracellular |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0009897 | external side of plasma membrane |
| CC | TAS | GO:0019898 | extrinsic component of membrane |
| CC | IEA | GO:0031225 | anchored component of membrane |
| CC | IBA | GO:0043235 | receptor complex |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: GFRA1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GFRA1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP410 | Exercise-induced Circadian Regulation |
| pid | ajdiss_2pathway | Posttranslational regulation of adherens junction stability and dissassembly |
| pid | ret_pathway | Signaling events regulated by Ret tyrosine kinase |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-5673001 | RAF/MAP kinase cascade |
| reactome | R-HSA-5683057 | MAPK family signaling cascades |
| reactome | R-HSA-5684996 | MAPK1/MAPK3 signaling |
| reactome | R-HSA-8853659 | RET signaling |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GFRA1
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