NELL1
From Wikipedia, the free encyclopedia
NEL-like 1 (chicken)
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Identifiers | |||||||||||
Symbol(s) | NELL1; IDH3GL; NRP1 | ||||||||||
External IDs | OMIM: 602319 MGI: 2443902 HomoloGene: 4486 | ||||||||||
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RNA expression pattern | |||||||||||
Orthologs | |||||||||||
Human | Mouse | ||||||||||
Entrez | 4745 | 338352 | |||||||||
Ensembl | ENSG00000165973 | ENSMUSG00000055409 | |||||||||
Uniprot | Q92832 | n/a | |||||||||
Refseq | NM_006157 (mRNA) NP_006148 (protein) |
XM_993693 (mRNA) NP_001032995 (protein) |
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Location | Chr 11: 20.65 - 21.55 Mb | Chr 7: 49.84 - 50.73 Mb | |||||||||
Pubmed search | [1] | [2] |
NEL-like 1 (chicken), also known as NELL1, is a human gene.[1]
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF) -like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. An alternative splice variant has been described but its full-length sequence has not been determined.[1]
[edit] References
[edit] Further reading
- Auffray C, Behar G, Bois F, et al. (1995). "[IMAGE: molecular integration of the analysis of the human genome and its expression]". C. R. Acad. Sci. III, Sci. Vie 318 (2): 263–72. PMID 7757816.
- Watanabe TK, Katagiri T, Suzuki M, et al. (1997). "Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats.". Genomics 38 (3): 273–6. PMID 8975702.
- Ting K, Vastardis H, Mulliken JB, et al. (1999). "Human NELL-1 expressed in unilateral coronal synostosis.". J. Bone Miner. Res. 14 (1): 80–9. PMID 9893069.
- Luce MJ, Burrows PD (1999). "The neuronal EGF-related genes NELL1 and NELL2 are expressed in hemopoietic cells and developmentally regulated in the B lineage.". Gene 231 (1-2): 121–6. PMID 10231576.
- Kuroda S, Oyasu M, Kawakami M, et al. (1999). "Biochemical characterization and expression analysis of neural thrombospondin-1-like proteins NELL1 and NELL2.". Biochem. Biophys. Res. Commun. 265 (1): 79–86. doi: . PMID 10548494.
- Maeda K, Matsuhashi S, Tabuchi K, et al. (2002). "Brain specific human genes, NELL1 and NELL2, are predominantly expressed in neuroblastoma and other embryonal neuroepithelial tumors.". Neurol. Med. Chir. (Tokyo) 41 (12): 582–8; discussion 589. PMID 11803583.
- Zhang X, Kuroda S, Carpenter D, et al. (2002). "Craniosynostosis in transgenic mice overexpressing Nell-1.". J. Clin. Invest. 110 (6): 861–70. PMID 12235118.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Okamoto K, Matsuzaka Y, Yoshikawa Y, et al. (2004). "Identification of NAD+-dependent isocitrate dehydrogenase 3 gamma-like (IDH3GL) gene and its genetic polymorphisms.". Gene 323: 141–8. PMID 14659887.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi: . PMID 14702039.
- Tsutsumi S, Kamata N, Vokes TJ, et al. (2004). "The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).". Am. J. Hum. Genet. 74 (6): 1255–61. doi: . PMID 15124103.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi: . PMID 15489334.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi: . PMID 16713569.
- Truong T, Zhang X, Pathmanathan D, et al. (2007). "Craniosynostosis-associated gene nell-1 is regulated by runx2.". J. Bone Miner. Res. 22 (1): 7–18. doi: . PMID 17042739.
- Jin Z, Mori Y, Yang J, et al. (2007). "Hypermethylation of the nel-like 1 gene is a common and early event and is associated with poor prognosis in early-stage esophageal adenocarcinoma.". Oncogene 26 (43): 6332–40. doi: . PMID 17452981.