Homo sapiens Gene: GFRA1
Summary
InnateDB Gene IDBG-90594.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GFRA1
Gene Name GDNF family receptor alpha 1
Synonyms GDNFR; GDNFRA; GFR-ALPHA-1; RET1L; RETL1; TRNR1;
Species Homo sapiens
Ensembl Gene ENSG00000151892
Encoded Proteins
GDNF family receptor alpha 1
GDNF family receptor alpha 1
GDNF family receptor alpha 1
GDNF family receptor alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:116056925-116273467
Strand Reverse strand
Band q25.3
Transcripts
ENST00000369236 ENSP00000358239
ENST00000369234 ENSP00000358237
ENST00000355422 ENSP00000347591
ENST00000439649 ENSP00000393725
ENST00000490345
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0016167 glial cell-derived neurotrophic factor receptor activity
Biological Process
GO:0007166 cell surface receptor signaling pathway
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway
Cellular Component
GO:0005886 plasma membrane
GO:0019898 extrinsic component of membrane
GO:0031225 anchored component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
NCAM signaling for neurite out-growth pathway
NCAM1 interactions pathway
Axon guidance pathway
KEGG
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
Signaling events regulated by Ret tyrosine kinase
Posttranslational regulation of adherens junction stability and dissassembly
Cross-References
SwissProt P56159
TrEMBL
UniProt Splice Variant
Entrez Gene 2674
UniGene Hs.388347 Hs.595011 Hs.619301
RefSeq NM_005264 XM_005269696 NM_145793 NM_001145453
HUGO HGNC:4243
OMIM 601496
CCDS CCDS44481 CCDS7593
HPRD 03291
IMGT
EMBL AF038411 AF038412 AF038413 AF038414 AF038415 AF038416 AF038417 AF038418 AF038419 AF038420 AF038421 AF042080 AF058990 AF058991 AF058992 AF058993 AF058994 AF058995 AF058996 AF058997 AF058998 AF058999 AK292886 BC014962 CH471066 U95847 U97144
GenPept AAB71811 AAB97371 AAC14431 AAC39692 AAC39693 AAC51646 AAH14962 BAF85575 EAW49458
RNA Seq Atlas 2674