GFRA1

From Wikipedia, the free encyclopedia

GDNF family receptor alpha 1

PDB rendering based on 1q8d.

Available structures: 1q8d

Identifiers

Symbol(s)

GFRA1; GDNFR; GDNFRA; GFR-ALPHA-1; MGC23045; RET1L; RETL1; TRNR1

External IDs

OMIM: 601496 MGI: 1100842 HomoloGene: 3855

Gene ontology
Molecular Function:	• receptor activity • receptor binding • glial cell line-derived neurotrophic factor receptor activity • GPI anchor binding
Cellular Component:	• membrane • extrinsic to membrane
Biological Process:	• cell surface receptor linked signal transduction • nervous system development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005264 (mRNA)
NP_005255 (protein)

NM_010279 (mRNA)
NP_034409 (protein)

Location

Chr 10: 117.81 - 118.02 Mb

Chr 19: 58.29 - 58.51 Mb

Pubmed search

[1]

[2]

GDNF family receptor alpha 1, also known as GFRA1, is a human gene.

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.^[1]

[edit] References

^ Entrez Gene: GFRA1 GDNF family receptor alpha 1.

[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. PMID 8674117.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 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. PMID 9177201.
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. 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. PMID 9407096.
Gorodinsky A, Zimonjic DB, Popescu NC, Milbrandt J (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. PMID 9465905.
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.
Angrist M, Jing S, Bolk S, et al. (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.
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. 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. PMID 9697851.
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. 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. 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. 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. 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. PMID 11932334.