GFRA1

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]

Description

GDNF family receptor alpha 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Golgi apparatus

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (116056925 - 116273284)

Ensembl ID

ENSG00000151892  (ver. 103.38)

Orthologs

Mouse Gfra1: ENSMUSG00000025089

UniProt

P56159

neXtProt

NX_P56159

Human splice variants
Mouse splice variants

Protein structure