Corneodesmosin

Corneodesmosin
Identifiers
Symbols	CDSN ; HTSS; HTSS1; HYPT2; PSS; PSS1; S
External IDs	OMIM: 602593 MGI: 3505689 HomoloGene: 48005 GeneCards: CDSN Gene
Gene ontology Molecular function • protein homodimerization activity Cellular component • cornified envelope • cell-cell junction • desmosome • extracellular exosome Biological process • cell adhesion • epidermis development • single organismal cell-cell adhesion • keratinocyte differentiation • skin morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1041	386463
Ensembl	ENSG00000137197	ENSMUSG00000039518
UniProt	Q15517	Q7TPC1
RefSeq (mRNA)	NM_001264	NM_001008424
RefSeq (protein)	NP_001255	NP_001008424
Location (UCSC)	Chr 6: 31.12 – 31.12 Mb	Chr 17: 35.55 – 35.56 Mb
PubMed search

Corneodesmosin is a protein that in humans is encoded by the CDSN gene.^[1][2][3]

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.^[3]

See also

• Hypertrichosis simplex of the scalp
• List of conditions caused by problems with junctional proteins

References

1. Simon M, Montezin M, Guerrin M, Durieux JJ, Serre G (Jan 1998). "Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes". J Biol Chem 272 (50): 31770–6. doi:10.1074/jbc.272.50.31770. PMID 9395522.
2. Zhou Y, Chaplin DD (Nov 1993). "Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation". Proc Natl Acad Sci U S A 90 (20): 9470–4. doi:10.1073/pnas.90.20.9470. PMC 47590. PMID 8415725.
3. "Entrez Gene: CDSN corneodesmosin".

Further reading

• Toribio J, Quiñones PA (1975). "Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.". Br. J. Dermatol. 91 (6): 687–96. doi:10.1111/j.1365-2133.1974.tb12455.x. PMID 4141628.
• Lundström A, Serre G, Haftek M, Egelrud T (1995). "Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation.". Arch. Dermatol. Res. 286 (7): 369–75. doi:10.1007/BF00371795. PMID 7818278.
• Guerrin M, Simon M, Montézin M; et al. (1998). "Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation.". J. Biol. Chem. 273 (35): 22640–7. doi:10.1074/jbc.273.35.22640. PMID 9712893.
• Jenisch S, Koch S, Henseler T; et al. (2000). "Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.". Tissue Antigens 54 (5): 439–49. doi:10.1034/j.1399-0039.1999.540501.x. PMID 10599883.
• Guerrin M, Vincent C, Simon M; et al. (2001). "Identification of six novel polymorphisms in the human corneodesmosin gene.". Tissue Antigens 57 (1): 32–8. doi:10.1034/j.1399-0039.2001.057001032.x. PMID 11169256.
• Simon M, Jonca N, Guerrin M; et al. (2001). "Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation.". J. Biol. Chem. 276 (23): 20292–9. doi:10.1074/jbc.M100201200. PMID 11279026.
• Jonca N, Guerrin M, Hadjiolova K; et al. (2002). "Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties.". J. Biol. Chem. 277 (7): 5024–9. doi:10.1074/jbc.M108438200. PMID 11739386.
• Hui J, Oka A, Tamiya G; et al. (2003). "Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.". Tissue Antigens 60 (1): 77–83. doi:10.1034/j.1399-0039.2002.600110.x. PMID 12366786.
• Orrù S, Giuressi E, Casula M; et al. (2003). "Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).". Tissue Antigens 60 (4): 292–8. doi:10.1034/j.1399-0039.2002.600403.x. PMID 12472658.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Levy-Nissenbaum E, Betz RC, Frydman M; et al. (2003). "Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.". Nat. Genet. 34 (2): 151–3. doi:10.1038/ng1163. PMID 12754508.
• Caubet C, Jonca N, Lopez F; et al. (2004). "Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain.". J. Invest. Dermatol. 122 (3): 747–54. doi:10.1111/j.0022-202X.2004.22331.x. PMID 15086562.
• Caubet C, Jonca N, Brattsand M; et al. (2004). "Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7.". J. Invest. Dermatol. 122 (5): 1235–44. doi:10.1111/j.0022-202X.2004.22512.x. PMID 15140227.
• Capon F, Allen MH, Ameen M; et al. (2005). "A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.". Hum. Mol. Genet. 13 (20): 2361–8. doi:10.1093/hmg/ddh273. PMID 15333584.
• Yang T, Liang D, Koch PJ; et al. (2004). "Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.". Genes Dev. 18 (19): 2354–8. doi:10.1101/gad.1232104. PMC 522985. PMID 15466487.
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.