Molécula de adhesión celular 1

CADM1
Estruturas dispoñibles
PDB	Buscar ortólogos: PDBe, RCSB Lista de códigos PDB 3BIN , 4H5S ;
Identificadores
Símbolos	CADM1 (HGNC: 5951) CADM1, BL2, IGSF4, IGSF4A, NECL2, Necl-2, RA175, ST17, SYNCAM, TSLC1, sTSLC-1, sgIGSF, synCAM1, molécula de adhesión celular 1
Identificadores; externos	OMIM: 605686 ; MGI: 1889272 ; HomoloGene: 8641 ; EBI: CADM1; GeneCards: Xene CADM1; UniProt: CADM1;
Locus	Cr. 11 q23.3
Ontoloxía Xénica	Referencias: AmiGO / QuickGO
	Referencias: AmiGO / QuickGO
Padrón de expresión de ARNm
	Máis información
Ortólogos
Especies
Humano	Rato
Entrez
23705	54725
Ensembl
Véxase HS	Véxase MM
UniProt
Q9BY67	Q8R5M8
RefSeq; (ARNm)
NM_001098517	NM_001025600
RefSeq; (proteína) NCBI
NP_001091987	NP_001020771
Localización (UCSC)
Cr. 11:; 115.17 – 115.5 Mb	Cr. 9:; 47.53 – 47.86 Mb
PubMed (Busca)
23705 ;	54725

A molécula de adhesión celular 1 é unha proteína que nos hbumanos está codificada no xene CADM1 do cromosoma 11, tamén chamada SYNCAM, IGSF4 ou Nect-2, entre outros nomes.^[1]^[2]

Organismos modelo[editar | editar a fonte]

Fenotipo de rato knockout *Cadm1*
Características	Fenotipo
Viabilidade do homocigoto	Normal
Fertilidade	Anormal
Peso corporal	Normal
Ansiedade	Normal
Avaliación neurolóxica	Normal
Forza de agarre	Normal
Placa quente	Normal
Dismorfoloxía	Normal
Rotarod	Normal
Presión arterial non invasiva	Normal
Inhibición prepulso	Normal
Calorimetría indirecta	Normal
Test de tolerancia á glicosa	Normal
Resposta auditiva do tronco cerebral	Normal
DEXA	Normal
Radiografía	Normal
Temperatura corporal	Normal
Morfoloxía ocular	Normal
Química clínica	Normal
Haematoloxía	Normal
Test de micronúcleos	Normal
Peso do corazón	Normal
Wholemount da epiderme do rabo	Normal
Histopatoloxía cerebral	Normal
Infección por Salmonella	Normal^[3]
Infección por Citrobacter	Normal^[4]
Todos os test e análises de:^[5]

Utilizáronse organismos modelo no estudo da función da CADM1. Xerouse a liña de rato knockout condicional chamada Cadm1^tm1.2Brd.^[6]^[7] Os machos e femias foron sometidos a un cribado fenotípico estandarizado para determinar os efectos das delecións.^[5]^[8] Realizáronse 26 tests en ratos homocigotos mutantes e observouse unha anormalidade significativa: os machos eran estériles.^[5] Outros análises mostraron que cesara a espermatoxénese en ditos ratos.^[7]

Interaccións[editar | editar a fonte]

A molécula de adhesión celular 1 presenta interaccións con EPB41L3.^[9]

Estudos de asociación[editar | editar a fonte]

Estudos de asociación en todo o xenoma (GWAS polas súas siglas en inglés) identificaron unha asociación entre o índice de masa corporal e dous loci situados preto dos xenes CADM1 e CADM2.^[10] Os resultados experimentais doutro estudo mostraron que os ratos obesos presentaban sobreexpresión dos xenes CADM1 e CADM2 e que a perda de CADM1 protexía os ratos da obesidade promovendo un balance de enerxía negativo e unha perda de peso.^[11] Ademais, un estudo de asociación en todo o xenoma de 2017 revelou unha asociación entre a anorexia nerviosa e o xene CADM1.^[12] No cerebro estes xenes son mediadores na ensamblaxe sináptica, e as mutacións en CADM1 están tamén asociadas co trastorno do espectro autista. ^[13]

Notas[editar | editar a fonte]

↑ 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 (febreiro de 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. PMID 10610705. doi:10.1006/geno.1999.6001.
↑ "Entrez Gene: CADM1 cell adhesion molecule 1".
↑ "Salmonella infection data for Cadm1". Wellcome Trust Sanger Institute.
↑ "Citrobacter infection data for Cadm1". Wellcome Trust Sanger Institute.
↑ ^5,0 ^5,1 ^5,2 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.
↑ "Mouse Genome Informatics".
↑ ^7,0 ^7,1 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. PMC 1447413. PMID 16611999. doi:10.1128/MCB.26.9.3595-3609.2006.
↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. PMC 3218837. PMID 21722353. doi:10.1186/gb-2011-12-6-224.
↑ 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.
↑ Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. (novembro de 2010). "Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index". Nature Genetics 42 (11): 937–48. PMC 3014648. PMID 20935630. doi:10.1038/ng.686.
↑ Rathjen T, Yan X, Kononenko NL, Ku MC, Song K, Ferrarese L, et al. (agosto de 2017). "Regulation of body weight and energy homeostasis by neuronal cell adhesion molecule 1". Nature Neuroscience 20 (8): 1096–1103. PMC 5533218. PMID 28628102. doi:10.1038/nn.4590.
↑ Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JR, Gaspar HA, et al. (agosto de 2019). "Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa". Nature Genetics 51 (8): 1207–1214. PMC 6779477. PMID 31308545. doi:10.1038/s41588-019-0439-2.
↑ Fujita E, Tanabe Y, Imhof BA, Momoi MY, Momoi T (decembro de 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. PMID 22994563. doi:10.1111/jnc.12022.

Véxase tamén[editar | editar a fonte]

Outros artigos[editar | editar a fonte]

Bibliografía[editar | editar a fonte]

Watabe K, Ito A, Koma YI, Kitamura Y (2004). "IGSF4: a new intercellular adhesion molecule that is called by three names, TSLC1, SgIGSF and SynCAM, by virtue of its diverse function.". Histol. Histopathol. 18 (4): 1321–9. PMID 12973698.
Kuramochi M; Fukuhara H; Nobukuni T; et al. (2001). "TSLC1 is a tumor-suppressor gene in human non-small-cell lung cancer". Nat. Genet. 27 (4): 427–30. PMID 11279526. doi:10.1038/86934. hdl:2241/1028.
Masuda M; Yageta M; Fukuhara H; et al. (2002). "The tumor suppressor protein TSLC1 is involved in cell-cell adhesion". J. Biol. Chem. 277 (34): 31014–9. PMID 12050160. doi:10.1074/jbc.M203620200.
Fukuhara H; Kuramochi M; Fukami T; et al. (2003). "Promoter methylation of TSLC1 and tumor suppression by its gene product in human prostate cancer". Jpn. J. Cancer Res. 93 (6): 605–9. PMC 5927049. PMID 12079507. doi:10.1111/j.1349-7006.2002.tb01297.x.
Allinen M; Peri L; Kujala S; et al. (2002). "Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation". Genes Chromosomes Cancer 34 (4): 384–9. PMID 12112527. doi:10.1002/gcc.10079.
Biederer T; Sara Y; Mozhayeva M; et al. (2002). "SynCAM, a synaptic adhesion molecule that drives synapse assembly". Science 297 (5586): 1525–31. Bibcode:2002Sci...297.1525B. PMID 12202822. doi:10.1126/science.1072356.
Yageta M; Kuramochi M; Masuda M; et al. (2002). "Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer". Cancer Res. 62 (18): 5129–33. PMID 12234973.
Jansen M; Fukushima N; Rosty C; et al. (2003). "Aberrant methylation of the 5' CpG island of TSLC1 is common in pancreatic ductal adenocarcinoma and is first manifest in high-grade PanlNs". Cancer Biol. Ther. 1 (3): 293–6. PMID 12432281. doi:10.4161/cbt.84.
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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.
Honda T; Tamura G; Waki T; et al. (2003). "Hypermethylation of the TSLC1 gene promoter in primary gastric cancers and gastric cancer cell lines". Jpn. J. Cancer Res. 93 (8): 857–60. PMC 5927103. PMID 12716461. doi:10.1111/j.1349-7006.2002.tb01329.x.
Shingai T; Ikeda W; Kakunaga S; et al. (2003). "Implications of nectin-like molecule-2/IGSF4/RA175/SgIGSF/TSLC1/SynCAM1 in cell-cell adhesion and transmembrane protein localization in epithelial cells". J. Biol. Chem. 278 (37): 35421–7. PMID 12826663. doi:10.1074/jbc.M305387200.
Ito A; Okada M; Uchino K; et al. (2003). "Expression of the TSLC1 adhesion molecule in pulmonary epithelium and its down-regulation in pulmonary adenocarcinoma other than bronchioloalveolar carcinoma". Lab. Invest. 83 (8): 1175–83. PMID 12920246. doi:10.1097/01.LAB.0000081391.28136.80.
Fukami T; Fukuhara H; Kuramochi M; et al. (2003). "Promoter methylation of the TSLC1 gene in advanced lung tumors and various cancer cell lines". Int. J. Cancer 107 (1): 53–9. PMID 12925956. doi:10.1002/ijc.11348.
Uchino K; Ito A; Wakayama T; et al. (2003). "Clinical implication and prognostic significance of the tumor suppressor TSLC1 gene detected in adenocarcinoma of the lung". Cancer 98 (5): 1002–7. PMID 12942568. doi:10.1002/cncr.11599.
Clark HF; Gurney AL; Abaya E; et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. PMC 403697. PMID 12975309. doi:10.1101/gr.1293003.
Fukuhara H; Masuda M; Yageta M; et al. (2003). "Association of a lung tumor suppressor TSLC1 with MPP3, a human homologue of Drosophila tumor suppressor Dlg". Oncogene 22 (40): 6160–5. PMID 13679854. doi:10.1038/sj.onc.1206744.
Ito T; Shimada Y; Hashimoto Y; et al. (2003). "Involvement of TSLC1 in progression of esophageal squamous cell carcinoma". Cancer Res. 63 (19): 6320–6. PMID 14559819.
Mao X; Seidlitz E; Ghosh K; et al. (2004). "The cytoplasmic domain is critical to the tumor suppressor activity of TSLC1 in non-small cell lung cancer". Cancer Res. 63 (22): 7979–85. PMID 14633730.

[pmid10610705-1] 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 (febreiro de 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. PMID 10610705. doi:10.1006/geno.1999.6001.

[entrez-2] "Entrez Gene: CADM1 cell adhesion molecule 1".

[''Salmonella''_infection-3] "Salmonella infection data for Cadm1". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-4] "Citrobacter infection data for Cadm1". Wellcome Trust Sanger Institute.

[mgp_reference-5] 5,0 ^5,1 ^5,2 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.

[mgi_allele_ref-6] "Mouse Genome Informatics".

[LvDW-7] 7,0 ^7,1 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. PMC 1447413. PMID 16611999. doi:10.1128/MCB.26.9.3595-3609.2006.

[pmid21722353-8] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. PMC 3218837. PMID 21722353. doi:10.1186/gb-2011-12-6-224.

[pmid12234973-9] 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.

[Speliotes-10] Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. (novembro de 2010). "Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index". Nature Genetics 42 (11): 937–48. PMC 3014648. PMID 20935630. doi:10.1038/ng.686.

[Rethjen-11] Rathjen T, Yan X, Kononenko NL, Ku MC, Song K, Ferrarese L, et al. (agosto de 2017). "Regulation of body weight and energy homeostasis by neuronal cell adhesion molecule 1". Nature Neuroscience 20 (8): 1096–1103. PMC 5533218. PMID 28628102. doi:10.1038/nn.4590.

[WatsonYilmaz2019-12] Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JR, Gaspar HA, et al. (agosto de 2019). "Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa". Nature Genetics 51 (8): 1207–1214. PMC 6779477. PMID 31308545. doi:10.1038/s41588-019-0439-2.

[Fujita-13] Fujita E, Tanabe Y, Imhof BA, Momoi MY, Momoi T (decembro de 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. PMID 22994563. doi:10.1111/jnc.12022.

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