Protein-coding gene in the species Homo sapiens
| NELL1 |
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| Identifiers |
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| Aliases | NELL1, IDH3GL, NRP1, neural EGFL like 1 |
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| External IDs | OMIM: 602319 MGI: 2443902 HomoloGene: 4486 GeneCards: NELL1 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 11 (human)[1] |
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| | Band | 11p15.1 | Start | 20,669,551 bp[1] |
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| End | 21,575,686 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7|7 B4 | Start | 49,624,612 bp[2] |
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| End | 50,516,356 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - endothelial cell
- orbitofrontal cortex
- Brodmann area 46
- middle temporal gyrus
- prefrontal cortex
- sperm
- Brodmann area 10
- superior frontal gyrus
- dorsolateral prefrontal cortex
- frontal pole
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| | 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
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_001288713
NM_001288714
NM_006157
NM_201551 |
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| RefSeq (protein) | |
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NP_001275642
NP_001275643
NP_006148
NP_963845 |
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| Location (UCSC) | Chr 11: 20.67 – 21.58 Mb | Chr 7: 49.62 – 50.52 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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.[5][6][7]
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.[6]
Recent study by UCLA researchers shows that administering the protein NELL-1 intravenously stimulates significant bone formation through the regenerative ability of stem cells.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000165973 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "Entrez Gene: NELL1 NEL-like 1 (chicken)".
- ^ a b "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]". 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.
