NELL1

NELL1
Identifiers
Aliases	NELL1, IDH3GL, NRP1, neural EGFL like 1
External IDs	MGI: 2443902 HomoloGene: 4486 GeneCards: NELL1
Genetically Related Diseases
Crohn's disease[1]
Gene ontology Molecular function • calcium ion binding • protein binding Cellular component • cytoplasm • perinuclear region of cytoplasm • extracellular region • nuclear envelope • nucleus Biological process • regulation of gene expression • negative regulation of osteoblast proliferation • cell differentiation • positive regulation of osteoblast differentiation • negative regulation of cyclin catabolic process • nervous system development • positive regulation of bone mineralization Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4745	338352
Ensembl	ENSG00000165973	ENSMUSG00000055409
UniProt	Q92832	Q2VWQ2
RefSeq (mRNA)	NM_001288713 NM_001288714 NM_006157 NM_201551	NM_001037906
RefSeq (protein)	NP_001275642.1 NP_001275643.1 NP_006148.2 NP_963845.1	NP_001032995.1
Location (UCSC)	Chr 11: 20.67 – 21.58 Mb	Chr 7: 49.97 – 50.87 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Protein kinase C-binding protein NELL1 also known as NEL-like protein 1 (NELL1) or Nel-related protein 1 (NRP1) is a protein that in humans is encoded by the NELL1 gene.^[4][5][6]

Function

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.^[5]

Recent study by UCLA researchers shows that administering the protein NELL-1 intravenously stimulates significant bone formation through the regenerative ability of stem cells.^[6]

References

1. "Diseases that are genetically associated with NELL1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Watanabe TK, Katagiri T, Suzuki M, Shimizu F, Fujiwara T, Kanemoto N, Nakamura Y, Hirai Y, Maekawa H, Takahashi E (Mar 1997). "Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats". Genomics. 38 (3): 273–6. doi:10.1006/geno.1996.0628. PMID 8975702.
5. "Entrez Gene: NELL1 NEL-like 1 (chicken)".
6. "Study reveals bone-building protein's impact on bone stem cells".

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.
• 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. doi:10.1359/jbmr.1999.14.1.80. 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. doi:10.1016/S0378-1119(99)00093-1. 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:10.1006/bbrc.1999.1638. 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. doi:10.2176/nmc.41.582. 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. doi:10.1172/JCI15375. PMC 151127. 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:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1016/j.gene.2003.09.014. 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:10.1038/ng1285. 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:10.1086/421527. PMC 1182089. 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:10.1101/gr.2596504. PMC 528928. 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:10.1016/j.cell.2006.03.032. 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:10.1359/jbmr.061012. 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:10.1038/sj.onc.1210461. PMID 17452981.