CHL1

CHL1
Identifiers
Aliases	CHL1 , CALL, L1CAM2, cell adhesion molecule L1 like
External IDs	OMIM: 607416 MGI: 1098266 HomoloGene: 21314 GeneCards: CHL1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3p26.3 Start 196,763 bp [1] End 409,417 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 E1 Start 103,487,547 bp [2] End 103,727,172 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 endothelial cell superior frontal gyrus sural nerve spinal ganglia postcentral gyrus frontal pole Brodmann area 10 trigeminal ganglion middle temporal gyrus Top expressed in spermatid subiculum ventral tegmental area lateral hypothalamus dorsomedial hypothalamic nucleus supraoptic nucleus substantia nigra cerebellar vermis ventromedial nucleus paraventricular nucleus of hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function protease binding Cellular component integral component of membrane membrane plasma membrane apical part of cell extracellular region dendrite extracellular exosome Biological process negative regulation of neuron apoptotic process cell differentiation cognition axon regeneration adult locomotory behavior neuron migration nervous system development multicellular organism development cell adhesion exploration behavior neuron projection development signal transduction axon guidance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10752 12661 Ensembl ENSG00000134121 ENSMUSG00000030077 UniProt O00533 P70232 RefSeq (mRNA) NM_001253387 NM_001253388 NM_006614 NM_007697 RefSeq (protein) NP_001240316 NP_001240317 NP_006605 NP_031723 Location (UCSC) Chr 3: 0.2 – 0.41 Mb Chr 6: 103.49 – 103.73 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

This article is about the cell adhesion molecule. For NRT 1.1, a dual-affinity plant nitrate transporter formally known as CHL1 ^[5] , see major facilitator superfamily.

Neural cell adhesion molecule L1-like protein also known as close homolog of L1 (CHL1) is a protein that in humans is encoded by the CHL1 gene. ^[6]

CHL1 is a cell adhesion molecule closely related to the L1. In melanocytic cells CHL1 gene expression may be regulated by MITF, ^[7] and can act as a helicase protein during the interphase stage of mitosis.

The protein, however, has dynamic localisation, meaning that it has not only multiple roles in the cell, but also various locations.

References

1. GRCh38: Ensembl release 89: ENSG00000134121 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030077 - 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. Pandey, G.; Kanwar, P.; Pandey, A. (2014). Global Comparative Analysis of CBL-CIPK Gene Families in Plants. Springer International Publishing. p. 52. ISBN   978-3-319-09078-8.
6. Wei MH, Karavanova I, Ivanov SV, Popescu NC, Keck CL, Pack S, Eisen JA, Lerman MI (September 1998). "In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules". Hum. Genet. 103 (3): 355–64. doi:10.1007/s004390050829. PMID   9799093. S2CID   3177127.
7. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi: 10.1111/j.1755-148X.2008.00505.x . PMID   19067971. S2CID   24698373.

Further reading

• Chen QY, Chen Q, Feng GY, et al. (2005). "Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population". Schizophr. Res. 73 (2–3): 269–74. doi:10.1016/j.schres.2004.06.001. PMID   15653271. S2CID   40310550.
• Manderson EN, Birch AH, Shen Z, et al. (2009). "Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer". Int. J. Gynecol. Cancer. 19 (4): 513–25. doi:10.1111/IGC.0b013e3181a3cd38. PMID   19509545. S2CID   27315616.
• Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC   2896464 . PMID   20379614.
• Tam GW, van de Lagemaat LN, Redon R, et al. (2010). "Confirmed rare copy number variants implicate novel genes in schizophrenia". Biochem. Soc. Trans. 38 (2): 445–51. doi: 10.1042/BST0380445 . PMID   20298200. S2CID   31716113.
• 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.
• Gast D, Riedle S, Riedle S, et al. (2005). "L1 augments cell migration and tumor growth but not beta3 integrin expression in ovarian carcinomas". Int. J. Cancer. 115 (4): 658–65. doi:10.1002/ijc.20869. PMID   15704102. S2CID   44309818.
• Lim SD, Stallcup W, Lefkove B, et al. (2007). "Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?". Mol. Med. 13 (3–4): 160–5. doi:10.2119/2006-00070.Lim. PMC   1892760 . PMID   17592550.
• Palmieri RT, Wilson MA, Iversen ES, et al. (2008). "Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3567–72. doi:10.1158/1055-9965.EPI-08-0548. PMC   2664299 . PMID   19064572.
• Sakurai K, Migita O, Toru M, Arinami T (2002). "An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia". Mol. Psychiatry. 7 (4): 412–5. doi: 10.1038/sj.mp.4000973 . PMID   11986985.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
• Liu T, Qian WJ, Gritsenko MA, et al. (2005). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC   1850943 . PMID   16335952.
• Whittard JD, Sakurai T, Cassella MR, et al. (2006). "MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth". Mol. Biol. Cell. 17 (6): 2696–706. doi:10.1091/mbc.E06-01-0090. PMC   1474804 . PMID   16597699.
• Angeloni D, Lindor NM, Pack S, et al. (1999). "CALL gene is haploinsufficient in a 3p- syndrome patient" (PDF). Am. J. Med. Genet. 86 (5): 482–5. doi:10.1002/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L. hdl: 11382/301711 . PMID   10508992.

External links

• CHL1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human CHL1 genome location and CHL1 gene details page in the UCSC Genome Browser .