| General information | | DisProt: | DP00706 | | Name: | Corneodesmosin | | Synonym(s): | CDSN_HUMAN
S protein
| | First appeared in release: | Release 5.7 (02/28/2011) | | UniProt: | Q15517 | | UniGene: | | | SwissProt: | CDSN_HUMAN | | TrEMBL: | | | NCBI (GI): | | | Source organism: | Homo sapiens (Human) | | Sequence length: | 529 | | Percent disordered: | 21% | | Homologues: | |
| Native sequence |
10 20 30 40 50 60
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MGSSRAPWMG RVGGHGMMAL LLAGLLLPGT LAKSIGTFSD PCKDPTRITS PNDPCLTGKG - 60
DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG GSAGSFKPGT GYSQVSYSSG - 120
SGSSLQGASG SSQLGSSSSH SGNSGSHSGS SSSHSSSSSS FQFSSSSFQV GNGSALPTND - 180
NSYRGILNPS QPGQSSSSSQ TSGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI - 240
PSSHSVSGGQ RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG - 300
GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY FSSNPIIPSQ - 360
SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS SSSISSSSGS PYHPCGSASQ - 420
SPCSPPGTGS FSSSSSSQSS GKIILQPCGS KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS - 480
AGAKPCGSSS AGKIPCRSIR DILAQVKPLG PQLADPEVFL PQGELLDSP
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| Functional narrative |
Subcellular Location: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation.
TISSUE SPECIFICITY: Exclusively expressed in skin.
POLYMORPHISM: Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900]. Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23.
DISEASE: Defects in CDSN are a cause of hypotrichosis simplex of the scalp (HTSS) [MIM:146520]; also known as hypotrichosis Spanish type. HTSS is an autosomal dominant form of isolated alopecia. Affected individuals have normal hair in early childhood but experience progressive loss of scalp hair beginning in the middle of the first decade and almost complete baldness by the third decade. Sequence=AAA21321.1; Type=Frameshift; Positions=501; Sequence=BAB63316.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC54948.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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Corneodesmosin CDSN) is an adhesive protein expressed in cornified epithelia and hair follicles. (Caubet et al, 2010)
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| Map of ordered and disordered regions |
Note: 'Mouse' over a region to see the start and stop residues. Click on a region to see detailed information.
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| Region 1 | | Type: | Disordered | | Name: | GS domain | | Location: | 60 - 171 | | Length: | 112 | | Region sequence: |
GDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSS
GSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVG | | Modification type: | Engineered
Fragment
| | PDB: | | | Structural/functional type: | Function arises from the disordered state
| | Functional classes: | Molecular recognition effectors
| | Functional subclasses: | Protein-protein binding
| Detection methods:
- Circular dichroism (CD) spectroscopy, far-UV (293 K; free GS protein 150 uL)
| References:
- Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G. "A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin." FASEB J.. 2010; 24(9): 3416-26. PubMed: 20448140
| Comments:Caubet et al (2010) found that corneodesmosin (CDSN) plays a significant role in hypotrichosis simplex of the scalp (HSS), a nonsyndromic form of alopecia. In HSS, a mutated form of CDSN is prone to amyloidosis, especially in the GS domain. When aggregated, the mutated CDSN becomes toxic to keratinocytes leading to the disease state.
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| References |
- Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G. "A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin." FASEB J.. 2010; 24(9): 3416-26. PubMed: 20448140
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| Comments |
Sent for AV 1-28-2011 (PubMed: 20448140)
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