NELL1

NELL1
Identifiers
Aliases	NELL1, IDH3GL, NRP1, neural EGFL like 1
External IDs	OMIM: 602319; MGI: 2443902; GeneCards: NELL1
Gene location (Human)
Chr.	Chromosome 11 (human)
End	21,575,686 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	50,516,356 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; buccal mucosa cell; ; ventricular zone; ; orbitofrontal cortex; ; Brodmann area 46; ; middle temporal gyrus; ; prefrontal cortex; ; sperm; ; Brodmann area 10; ; superior frontal gyrus;
	Top expressed in
	medial geniculate nucleus; ; medial dorsal nucleus; ; lateral geniculate nucleus; ; dorsomedial hypothalamic nucleus; ; facial motor nucleus; ; suprachiasmatic nucleus; ; superior colliculus; ; ventral tegmental area; ; paraventricular nucleus of hypothalamus; ; lateral hypothalamus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein binding; protein kinase C binding; heparin 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; nervous system development; positive regulation of bone mineralization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	4745
	338352
	ENSG00000165973
	ENSMUSG00000055409
	Q92832
	Q2VWQ2
	NM_001288713; NM_001288714; NM_006157; NM_201551
	NM_001037906; NM_177413
	NP_001275642; NP_001275643; NP_006148; NP_963845
	NP_001032995
	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.

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.

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000165973 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000055409 – Ensembl, May 2017
↑ "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.
↑ 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.
1 2 "Entrez Gene: NELL1 NEL-like 1 (chicken)".
1 2 "Study reveals bone-building protein's impact on bone stem cells".

Auffray C, Behar G, Bois F, et al. (1995). "[IMAGE: molecular integration of the analysis of the human genome and its expression]". Comptes Rendus de l'Académie des Sciences, Série III. 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. S2CID 25664089.
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. Bibcode:2002PNAS...9916899M. 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. S2CID 13709685.
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. S2CID 24485075.
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.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165973 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000055409 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8975702-5] 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.

[entrez-6] 1 2 "Entrez Gene: NELL1 NEL-like 1 (chicken)".

[medicalxpress-7] 1 2 "Study reveals bone-building protein's impact on bone stem cells".

NELL1

Function

References

Further reading