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Wikipedia

NELL1

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]

NELL1
Identifiers
AliasesNELL1, IDH3GL, NRP1, neural EGFL like 1
External IDsOMIM: 602319 MGI: 2443902 HomoloGene: 4486 GeneCards: NELL1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001288713
NM_001288714
NM_006157
NM_201551

NM_001037906
NM_177413

RefSeq (protein)

NP_001275642
NP_001275643
NP_006148
NP_963845

NP_001032995

Location (UCSC)Chr 11: 20.67 – 21.58 MbChr 7: 49.62 – 50.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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 edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165973 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  6. ^ a b "Entrez Gene: NELL1 NEL-like 1 (chicken)".
  7. ^ a b "Study reveals bone-building protein's impact on bone stem cells".

Further reading edit

  • 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.


nell1, protein, kinase, binding, protein, also, known, like, protein, related, protein, nrp1, protein, that, humans, encoded, gene, identifiersaliases, idh3gl, nrp1, neural, egfl, like, 1external, idsomim, 602319, 2443902, homologene, 4486, genecards, gene, lo. 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 NELL1IdentifiersAliasesNELL1 IDH3GL NRP1 neural EGFL like 1External IDsOMIM 602319 MGI 2443902 HomoloGene 4486 GeneCards NELL1Gene location Human Chr Chromosome 11 human 1 Band11p15 1Start20 669 551 bp 1 End21 575 686 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 7 B4Start49 624 612 bp 2 End50 516 356 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellorbitofrontal cortexBrodmann area 46middle temporal gyrusprefrontal cortexspermBrodmann area 10superior frontal gyrusdorsolateral prefrontal cortexfrontal poleTop expressed inmedial geniculate nucleusmedial dorsal nucleuslateral geniculate nucleusdorsomedial hypothalamic nucleusfacial motor nucleussuprachiasmatic nucleussuperior colliculusventral tegmental areaparaventricular nucleus of hypothalamuslateral hypothalamusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioncalcium ion binding protein binding protein kinase C binding heparin bindingCellular componentcytoplasm perinuclear region of cytoplasm extracellular region nuclear envelope nucleusBiological processregulation of gene expression negative regulation of osteoblast proliferation cell differentiation positive regulation of osteoblast differentiation nervous system development positive regulation of bone mineralizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez4745338352EnsemblENSG00000165973ENSMUSG00000055409UniProtQ92832Q2VWQ2RefSeq mRNA NM 001288713NM 001288714NM 006157NM 201551NM 001037906NM 177413RefSeq protein NP 001275642NP 001275643NP 006148NP 963845NP 001032995Location UCSC Chr 11 20 67 21 58 MbChr 7 49 62 50 52 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThis 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 edit 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 editAuffray 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 Academie des Sciences Serie 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 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title NELL1 amp oldid 1170004054, wikipedia, wiki, book, books, library,

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