GFRA1

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GFRA1
Protein GFRA1 PDB 1q8d.png
Identifiers
AliasesGFRA1, GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1, GDNF family receptor alpha 1
External IDsOMIM: 601496 MGI: 1100842 HomoloGene: 3855 GeneCards: GFRA1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001285457
NM_010279

RefSeq (protein)

NP_001272386
NP_034409

Location (UCSC)Chr 10: 116.06 – 116.27 MbChr 19: 58.22 – 58.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GDNF family receptor alpha-1 (GFRα1), also known as the GDNF receptor, is a protein that in humans is encoded by the GFRA1 gene.[5][6]

Function

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.[7]

Interactions

GDNF family receptor alpha 1 has been shown to interact with GDNF[8][9] and RET proto-oncogene.[9][10]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151892 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025089 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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". Cytogenetics and Cell Genetics. 78 (3–4): 289–90. doi:10.1159/000134674. PMID 9465905.
  6. ^ Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A (Mar 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.
  7. ^ "Entrez Gene: GFRA1 GDNF family receptor alpha 1".
  8. ^ Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T, Delaney J, Schultz H, Zhou R, Fox GM (Dec 1997). "GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family". The Journal of Biological Chemistry. 272 (52): 33111–7. doi:10.1074/jbc.272.52.33111. PMID 9407096.
  9. ^ a b Cik M, Masure S, Lesage AS, Van Der Linden I, Van Gompel P, Pangalos MN, Gordon RD, Leysen JE (Sep 2000). "Binding of GDNF and neurturin to human GDNF family receptor alpha 1 and 2. Influence of cRET and cooperative interactions". The Journal of Biological Chemistry. 275 (36): 27505–12. doi:10.1074/jbc.M000306200. PMID 10829012.
  10. ^ Klein RD, Sherman D, Ho WH, Stone D, Bennett GL, Moffat B, Vandlen R, Simmons L, Gu Q, Hongo JA, Devaux B, Poulsen K, Armanini M, Nozaki C, Asai N, Goddard A, Phillips H, Henderson CE, Takahashi M, Rosenthal A (Jun 1997). "A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor". Nature. 387 (6634): 717–21. Bibcode:1997Natur.387..717K. doi:10.1038/42722. PMID 9192898. S2CID 4360246.

Further reading

External links

  • Overview of all the structural information available in the PDB for UniProt: P56159 (GDNF family receptor alpha-1) at the PDBe-KB.