GDNF family receptor alpha 1

GDNF family receptor alpha 1
	; PDB rendering based on 1q8d.
Available structures
PDB	1q8d
Identifiers
Symbols	GFRA1; DKFZp313E1012; DKFZp686J0156; FLJ10561; FLJ31546; GDNFR; GDNFRA; GFR-ALPHA-1; MGC23045; RET1L; RETL1; TRNR1
External IDs	OMIM: 601496 MGI: 1100842 HomoloGene: 3855 GeneCards: GFRA1 Gene
Gene Ontology
Molecular function	• receptor activity; • receptor binding; • integrin binding; • glial cell-derived neurotrophic factor receptor activity;
Cellular component	• plasma membrane; • extrinsic to membrane; • anchored to membrane;
Biological process	• cell surface receptor linked signaling pathway; • nervous system development; • axon guidance; • glial cell-derived neurotrophic factor receptor signaling pathway;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs

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GDNF family receptor alpha-1 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]

[edit] Interactions

GDNF family receptor alpha 1 has been shown to interact with Glial cell line-derived neurotrophic factor^[4]^[5] and RET proto-oncogene.^[5]^[6]

[edit] References

^ 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.
^ 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.
^ "Entrez Gene: GFRA1 GDNF family receptor alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2674.
^ 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.
^ ^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.
^ 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.

[edit] Further reading

Treanor JJ, Goodman L, de Sauvage F, et al. (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, et al. (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 (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Gattei V, Celetti A, Cerrato A, et al. (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, et al. (1997). "Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins.". Proc. Natl. Acad. Sci. U.S.A. 94 (12): 6238–43. doi:10.1073/pnas.94.12.6238. PMC 21033. PMID 9177201. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21033.
Baloh RH, Tansey MG, Golden JP, et al. (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, et al. (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, et al. (1998). "GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family.". J. Biol. Chem. 272 (52): 33111–7. doi:10.1074/jbc.272.52.33111. PMID 9407096.
Eng C, Myers SM, Kogon MD, et al. (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, et al. (1998). "Mutational analysis of the GDNF/RET-GDNFR alpha signaling complex in a kindred with vesicoureteral reflux.". Hum. Genet. 102 (4): 474–8. doi:10.1007/s004390050724. PMID 9600247.
Cacalano G, Fariñas I, Wang LC, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2710137.
Enokido Y, de Sauvage F, Hongo JA, et al. (1998). "GFR alpha-4 and the tyrosine kinase Ret form a functional receptor complex for persephin.". Curr. Biol. 8 (18): 1019–22. doi:10.1016/S0960-9822(07)00422-8. PMID 9740802.
Tansey MG, Baloh RH, Milbrandt J, Johnson EM (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 (2000). "Expression of human GFR alpha-1 (GDNF receptor) at the neuromuscular junction and myelinated nerves.". Neurosci. Lett. 269 (1): 55–7. doi:10.1016/S0304-3940(99)00419-X. PMID 10821644.
Cik M, Masure S, Lesage AS, et al. (2000). "Binding of GDNF and neurturin to human GDNF family receptor alpha 1 and 2. Influence of cRET and cooperative interactions.". J. Biol. Chem. 275 (36): 27505–12. doi:10.1074/jbc.M000306200. PMID 10829012.
Paratcha G, Ledda F, Baars L, et al. (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, et al. (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, et al. (2002). "Glial-derived neurotropic factor and RET gene expression in normal human anterior pituitary cell types and in pituitary tumors.". J. Clin. Endocrinol. Metab. 87 (4): 1879–84. doi:10.1210/jc.87.4.1879. PMID 11932334.

This article on a gene on chromosome 10 is a stub. You can help Wikipedia by expanding it.

[pmid9465905-0] 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.

[pmid9545641-1] 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.

[entrez-2] "Entrez Gene: GFRA1 GDNF family receptor alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2674.

[pmid9407096-3] 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.

[pmid10829012-4] 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.

[pmid9192898-5] 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.

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GDNF family receptor alpha 1

[edit] Interactions

[edit] References

[edit] Further reading

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