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 IUPHAR: 1743 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]

Function[edit]

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". Cytogenetics and Cell Genetics 78 (3-4): 289–90. doi:10.1159/000134674. PMID 9465905. 
  2. ^ Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M et al. (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. 
  3. ^ "Entrez Gene: GFRA1 GDNF family receptor alpha 1". 
  4. ^ Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T et al. (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. 
  5. ^ a b Cik M, Masure S, Lesage AS, Van Der Linden I, Van Gompel P, Pangalos MN et al. (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. 
  6. ^ Klein RD, Sherman D, Ho WH, Stone D, Bennett GL, Moffat B et al. (Jun 1997). "A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor". Nature 387 (6634): 717–21. doi:10.1038/42722. PMID 9192898. 


Further reading[edit]

  • Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD et al. (Jul 1996). "Characterization of a multicomponent receptor for GDNF". Nature 382 (6586): 80–3. doi:10.1038/382080a0. PMID 8657309. 
  • Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M et al. (Jun 1996). "GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF". Cell 85 (7): 1113–24. doi:10.1016/S0092-8674(00)81311-2. PMID 8674117. 
  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Gattei V, Celetti A, Cerrato A, Degan M, De Iuliis A, Rossi FM et al. (Apr 1997). "Expression of the RET receptor tyrosine kinase and GDNFR-alpha in normal and leukemic human hematopoietic cells and stromal cells of the bone marrow microenvironment". Blood 89 (8): 2925–37. PMID 9108413. 
  • Sanicola M, Hession C, Worley D, Carmillo P, Ehrenfels C, Walus L et al. (Jun 1997). "Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins". Proceedings of the National Academy of Sciences of the United States of America 94 (12): 6238–43. doi:10.1073/pnas.94.12.6238. PMC 21033. PMID 9177201. 
  • Baloh RH, Tansey MG, Golden JP, Creedon DJ, Heuckeroth RO, Keck CL et al. (May 1997). "TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret". Neuron 18 (5): 793–802. doi:10.1016/S0896-6273(00)80318-9. PMID 9182803. 
  • Klein RD, Sherman D, Ho WH, Stone D, Bennett GL, Moffat B et al. (Jun 1997). "A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor". Nature 387 (6634): 717–21. doi:10.1038/42722. PMID 9192898. 
  • Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T et al. (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. 
  • Eng C, Myers SM, Kogon MD, Sanicola M, Hession C, Cate RL et al. (Feb 1998). "Genomic structure and chromosomal localization of the human GDNFR-alpha gene". Oncogene 16 (5): 597–601. doi:10.1038/sj.onc.1201573. PMID 9482105. 
  • Shefelbine SE, Khorana S, Schultz PN, Huang E, Thobe N, Hu ZJ et al. (Apr 1998). "Mutational analysis of the GDNF/RET-GDNFR alpha signaling complex in a kindred with vesicoureteral reflux". Human Genetics 102 (4): 474–8. doi:10.1007/s004390050724. PMID 9600247. 
  • Cacalano G, Fariñas I, Wang LC, Hagler K, Forgie A, Moore M et al. (Jul 1998). "GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney". Neuron 21 (1): 53–62. doi:10.1016/S0896-6273(00)80514-0. PMC 2710137. PMID 9697851. 
  • Enokido Y, de Sauvage F, Hongo JA, Ninkina N, Rosenthal A, Buchman VL et al. (Sep 1998). "GFR alpha-4 and the tyrosine kinase Ret form a functional receptor complex for persephin". Current Biology 8 (18): 1019–22. doi:10.1016/S0960-9822(07)00422-8. PMID 9740802. 
  • Tansey MG, Baloh RH, Milbrandt J, Johnson EM (Mar 2000). "GFRalpha-mediated localization of RET to lipid rafts is required for effective downstream signaling, differentiation, and neuronal survival". Neuron 25 (3): 611–23. doi:10.1016/S0896-6273(00)81064-8. PMID 10774729. 
  • Hase A, Suzuki H, Arahata K, Akazawa C (Jul 1999). "Expression of human GFR alpha-1 (GDNF receptor) at the neuromuscular junction and myelinated nerves". Neuroscience Letters 269 (1): 55–7. doi:10.1016/S0304-3940(99)00419-X. PMID 10821644. 
  • Cik M, Masure S, Lesage AS, Van Der Linden I, Van Gompel P, Pangalos MN et al. (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. 
  • Paratcha G, Ledda F, Baars L, Coulpier M, Besset V, Anders J et al. (Jan 2001). "Released GFRalpha1 potentiates downstream signaling, neuronal survival, and differentiation via a novel mechanism of recruitment of c-Ret to lipid rafts". Neuron 29 (1): 171–84. doi:10.1016/S0896-6273(01)00188-X. PMID 11182089. 
  • Gimm O, Dziema H, Brown J, Hoang-Vu C, Hinze R, Dralle H et al. (Apr 2001). "Over-representation of a germline variant in the gene encoding RET co-receptor GFRalpha-1 but not GFRalpha-2 or GFRalpha-3 in cases with sporadic medullary thyroid carcinoma". Oncogene 20 (17): 2161–70. doi:10.1038/sj.onc.1204289. PMID 11360200. 
  • Japón MA, Urbano AG, Sáez C, Segura DI, Cerro AL, Diéguez C et al. (Apr 2002). "Glial-derived neurotropic factor and RET gene expression in normal human anterior pituitary cell types and in pituitary tumors". The Journal of Clinical Endocrinology and Metabolism 87 (4): 1879–84. doi:10.1210/jc.87.4.1879. PMID 11932334.