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 RETtyrosine 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]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. PMID9465905.
^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. PMID9545641.
Gattei V, Celetti A, Cerrato A, Degan M, De Iuliis A, Rossi FM, Chiappetta G, Consales C, Improta S, Zagonel V, Aldinucci D, Agosti V, Santoro M, Vecchio G, Pinto A, Grieco M (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. PMID9108413.
Shefelbine SE, Khorana S, Schultz PN, Huang E, Thobe N, Hu ZJ, Fox GM, Jing S, Cote GJ, Gagel RF (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. PMID9600247. S2CID5631327.
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. hdl:10271/1630. PMID10821644. S2CID54274004.
Japón MA, Urbano AG, Sáez C, Segura DI, Cerro AL, Diéguez C, Alvarez CV (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. PMID11932334.
External links[]
Overview of all the structural information available in the PDB for UniProt: P56159 (GDNF family receptor alpha-1) at the PDBe-KB.
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PDB gallery
1q8d: The crystal structure of GDNF family co-receptor alpha 1 domain 3