CHL1

CHL1
Identifiers
AliasesCHL1, CALL, L1CAM2, cell adhesion molecule L1 like
External IDsOMIM: 607416 MGI: 1098266 HomoloGene: 21314 GeneCards: CHL1
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p26.3Start196,596 bp[1]
End409,417 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 6: 103.51 – 103.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134121 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030077 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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.
  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.

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.
  • 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.
  • 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.
  • 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.
  • 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. 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". 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. PMID 10508992.
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