GFRA1

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GDNF family receptor alpha 1
Protein GFRA1 PDB 1q8d.png
PDB rendering based on 1q8d.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GFRA1 ; GDNFR; GDNFRA; GFR-ALPHA-1; RET1L; RETL1; TRNR1
External IDs OMIM601496 MGI1100842 HomoloGene3855 GeneCards: GFRA1 Gene
RNA expression pattern
PBB GE GFRA1 205696 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2674 14585
Ensembl ENSG00000151892 ENSMUSG00000025089
UniProt P56159 P97785
RefSeq (mRNA) NM_001145453 NM_001285457
RefSeq (protein) NP_001138925 NP_001272386
Location (UCSC) Chr 10:
117.82 – 118.03 Mb
Chr 19:
58.24 – 58.46 Mb
PubMed search [1] [2]

GDNF family receptor alpha-1 (GFRα1), also known as the GDNF receptor, is a protein that in humans is encoded by the GFRA1 gene.[1][2]

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.[3]

Interactions[edit]

GDNF family receptor alpha 1 has been shown to interact with GDNF[4][5] and RET proto-oncogene.[5][6]

See also[edit]

References[edit]

  1. ^ Gorodinsky A, Zimonjic DB, Popescu NC, Milbrandt J (March 1998). "Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization". Cytogenet Cell Genet 78 (3-4): 289–90. doi:10.1159/000134674. PMID 9465905. 
  2. ^ Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A (June 1998). "Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility". Genomics 48 (3): 354–62. doi:10.1006/geno.1997.5191. PMID 9545641. 
  3. ^ "Entrez Gene: GFRA1 GDNF family receptor alpha 1". 
  4. ^ Jing, S; Yu Y; Fang M; Hu Z; Holst P L; Boone T; Delaney J; Schultz H; Zhou R; Fox G M (December 1997). "GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family". J. Biol. Chem. (UNITED STATES) 272 (52): 33111–7. doi:10.1074/jbc.272.52.33111. ISSN 0021-9258. PMID 9407096. 
  5. ^ a b Cik, M; Masure S; Lesage A S; Van Der Linden I; Van Gompel P; Pangalos M N; Gordon R D; Leysen J E (September 2000). "Binding of GDNF and neurturin to human GDNF family receptor alpha 1 and 2. Influence of cRET and cooperative interactions". J. Biol. Chem. (UNITED STATES) 275 (36): 27505–12. doi:10.1074/jbc.M000306200. ISSN 0021-9258. PMID 10829012. 
  6. ^ Klein, R D; Sherman D, Ho W H, Stone D, Bennett G L, Moffat B, Vandlen R, Simmons L, Gu Q, Hongo J A, Devaux B, Poulsen K, Armanini M, Nozaki C, Asai N, Goddard A, Phillips H, Henderson C E, Takahashi M, Rosenthal A (June 1997). "A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor". Nature (ENGLAND) 387 (6634): 717–21. doi:10.1038/42722. ISSN 0028-0836. PMID 9192898. 

Further reading[edit]