Cell adhesion molecule 1

From Wikipedia, the free encyclopedia
CADM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCADM1, BL2, IGSF4, IGSF4A, NECL2, Necl-2, RA175, ST17, SYNCAM, TSLC1, sTSLC-1, sgIGSF, synCAM1, cell adhesion molecule 1
External IDsOMIM: 605686 MGI: 1889272 HomoloGene: 8641 GeneCards: CADM1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001098517
NM_001301043
NM_001301044
NM_001301045
NM_014333

NM_001025600
NM_018770
NM_207675
NM_207676
NM_001310841

RefSeq (protein)

NP_001091987
NP_001287972
NP_001287973
NP_001287974
NP_055148

NP_001020771
NP_001297770
NP_061240
NP_997558
NP_997559

Location (UCSC)Chr 11: 115.17 – 115.5 MbChr 9: 47.53 – 47.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cell adhesion molecule 1 is a protein that, in humans, is encoded by the CADM1 gene.[5][6]

Model organisms[]

Model organisms have been used in the study of CADM1 function. A conditional knockout mouse line, called Cadm1tm1.2Brd[10] was generated.[11] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][12] Twenty six tests were carried out on homozygous mutant mice and one significant abnormality was observed: males were infertile.[9] Further analysis showed spermatogenesis had arrested in these mice.[11]

Interactions[]

Cell adhesion molecule 1 has been shown to interact with EPB41L3.[13]

Association studies[]

Genome-wide association studies identified an association between body mass index and two loci near the CADM1 and CADM2 gene.[14] Experimental results of another study showed that obese mice had an over expression of both CADM1 and CADM2 genes, and that loss of CADM1 protected mice from obesity, promoting a negative energy balance and weight loss.[15] Furthermore, a 2019 GWAS study revealed an association between Anorexia nervosa and CADM1.[16] In the brain, this genes mediate synaptic assembly, and mutations in CADM1 are also associated with Autistic spectrum disorder. [17]

See also[]

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182985 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032076 - 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. ^ Gomyo H, Arai Y, Tanigami A, Murakami Y, Hattori M, Hosoda F, Arai K, Aikawa Y, Tsuda H, Hirohashi S, Asakawa S, Shimizu N, Soeda E, Sakaki Y, Ohki M (Feb 2000). "A 2-Mb sequence-ready contig map and a novel immunoglobulin superfamily gene IGSF4 in the LOH region of chromosome 11q23.2". Genomics. 62 (2): 139–46. doi:10.1006/geno.1999.6001. PMID 10610705.
  6. ^ "Entrez Gene: CADM1 cell adhesion molecule 1".
  7. ^ "Salmonella infection data for Cadm1". Wellcome Trust Sanger Institute.
  8. ^ "Citrobacter infection data for Cadm1". Wellcome Trust Sanger Institute.
  9. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  10. ^ "Mouse Genome Informatics".
  11. ^ a b Van Der Weyden, L.; Arends, M. J.; Chausiaux, O. E.; Ellis, P. J.; Lange, U. C.; Surani, M. A.; Affara, N.; Murakami, Y.; Adams, D. J.; Bradley, A. (2006). "Loss of TSLC1 Causes Male Infertility Due to a Defect at the Spermatid Stage of Spermatogenesis". Molecular and Cellular Biology. 26 (9): 3595–3609. doi:10.1128/MCB.26.9.3595-3609.2006. PMC 1447413. PMID 16611999.
  12. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  13. ^ Yageta, Mika; Kuramochi Masami; Masuda Mari; Fukami Takeshi; Fukuhara Hiroshi; Maruyama Tomoko; Shibuya Masabumi; Murakami Yoshinori (Sep 2002). "Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer". Cancer Res. 62 (18): 5129–33. ISSN 0008-5472. PMID 12234973.
  14. ^ Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. (November 2010). "Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index". Nature Genetics. 42 (11): 937–48. doi:10.1038/ng.686. PMC 3014648. PMID 20935630.
  15. ^ Rathjen T, Yan X, Kononenko NL, Ku MC, Song K, Ferrarese L, et al. (August 2017). "Regulation of body weight and energy homeostasis by neuronal cell adhesion molecule 1". Nature Neuroscience. 20 (8): 1096–1103. doi:10.1038/nn.4590. PMC 5533218. PMID 28628102.
  16. ^ Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JR, Gaspar HA, et al. (August 2019). "Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa". Nature Genetics. 51 (8): 1207–1214. doi:10.1038/s41588-019-0439-2. PMC 6779477. PMID 31308545.
  17. ^ Fujita E, Tanabe Y, Imhof BA, Momoi MY, Momoi T (December 2012). "A complex of synaptic adhesion molecule CADM1, a molecule related to autism spectrum disorder, with MUPP1 in the cerebellum". J Neurochem. 123 (5): 886–94. doi:10.1111/jnc.12022. PMID 22994563.

Further reading[]

Retrieved from ""