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Protein

Corneodesmosin

Gene

CDSN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Important for the epidermal barrier integrity.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: MGI

GO - Biological processi

  • cell adhesion Source: ProtInc
  • epidermis development Source: ProtInc
  • keratinocyte differentiation Source: UniProtKB
  • single organismal cell-cell adhesion Source: MGI
  • skin morphogenesis Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137197-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Corneodesmosin
Alternative name(s):
S protein
Gene namesi
Name:CDSN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:1802. CDSN.

Subcellular locationi

  • Secreted

  • Note: Found in corneodesmosomes, the intercellular structures that are involved in desquamation.

GO - Cellular componenti

  • cell-cell junction Source: ProtInc
  • cornified envelope Source: MGI
  • desmosome Source: UniProtKB
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis 2 (HYPT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.
See also OMIM:146520
Peeling skin syndrome 1 (PSS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404).1 Publication
Disease descriptionA genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.
See also OMIM:270300

Keywords - Diseasei

Hypotrichosis

Organism-specific databases

DisGeNETi1041.
MalaCardsiCDSN.
MIMi146520. phenotype.
270300. phenotype.
Orphaneti90368. Hypotrichosis simplex of the scalp.
263553. Peeling skin syndrome type B.
PharmGKBiPA26348.

Polymorphism and mutation databases

BioMutaiCDSN.
DMDMi296439412.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 32Sequence analysisAdd BLAST32
ChainiPRO_000002091233 – 529CorneodesmosinAdd BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi172N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ15517.
PaxDbiQ15517.
PeptideAtlasiQ15517.
PRIDEiQ15517.

PTM databases

iPTMnetiQ15517.
PhosphoSitePlusiQ15517.

Expressioni

Tissue specificityi

Exclusively expressed in skin.

Gene expression databases

BgeeiENSG00000137197.

Organism-specific databases

HPAiHPA044730.
HPA054184.

Interactioni

GO - Molecular functioni

  • protein homodimerization activity Source: MGI

Protein-protein interaction databases

BioGridi107472. 15 interactors.
IntActiQ15517. 6 interactors.
MINTiMINT-2857469.

Structurei

3D structure databases

DisProtiDP00706.
ProteinModelPortaliQ15517.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi62 – 464Ser-richAdd BLAST403

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IENZ. Eukaryota.
ENOG41118PZ. LUCA.
HOVERGENiHBG081074.
InParanoidiQ15517.
OrthoDBiEOG091G0HWG.
PhylomeDBiQ15517.

Family and domain databases

InterProiIPR026087. Corneodesmosin.
[Graphical view]
PANTHERiPTHR23207. PTHR23207. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15517-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSSRAPWMG RVGGHGMMAL LLAGLLLPGT LAKSIGTFSD PCKDPTRITS
60 70 80 90 100
PNDPCLTGKG DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG
110 120 130 140 150
GSAGSFKPGT GYSQVSYSSG SGSSLQGASG SSQLGSSSSH SGNSGSHSGS
160 170 180 190 200
SSSHSSSSSS FQFSSSSFQV GNGSALPTND NSYRGILNPS QPGQSSSSSQ
210 220 230 240 250
TSGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI PSSHSVSGGQ
260 270 280 290 300
RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG
310 320 330 340 350
GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY
360 370 380 390 400
FSSNPIIPSQ SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS
410 420 430 440 450
SSSISSSSGS PYHPCGSASQ SPCSPPGTGS FSSSSSSQSS GKIILQPCGS
460 470 480 490 500
KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS AGAKPCGSSS AGKIPCRSIR
510 520
DILAQVKPLG PQLADPEVFL PQGELLDSP
Length:529
Mass (Da):51,522
Last modified:May 18, 2010 - v3
Checksum:iA040133CB0825C76
GO

Sequence cautioni

The sequence AAA21321 differs from that shown. Reason: Frameshift at position 501.Curated
The sequence BAB63316 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC54948 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti406S → G in AAH31993 (PubMed:15489334).Curated1
Sequence conflicti453S → N in AAN70995 (PubMed:12366786).Curated1

Polymorphismi

Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIMi:177900] (PubMed:10599883, PubMed:12472658,PubMed:10844560). 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 (PubMed:11169256).4 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02261518M → L.4 PublicationsCorresponds to variant rs3095318dbSNPEnsembl.1
Natural variantiVAR_02263756L → F in allele 1.31 and allele 1.32. 1 PublicationCorresponds to variant rs7742033dbSNPEnsembl.1
Natural variantiVAR_022616143N → S.10 PublicationsCorresponds to variant rs3130984dbSNPEnsembl.1
Natural variantiVAR_022638143Missing in allele 2.11. 1 Publication1
Natural variantiVAR_046010145G → S.Corresponds to variant rs6457328dbSNPEnsembl.1
Natural variantiVAR_022639150S → N in allele 2.21, allele 2.22 and allele 2.23. 1 Publication1
Natural variantiVAR_022617153Missing .3 Publications1
Natural variantiVAR_022618202S → F in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.51, allele 1.52, allele 2.11, allele 2.21, allele 2.22 and allele 2.23. 8 PublicationsCorresponds to variant rs707913dbSNPEnsembl.1
Natural variantiVAR_022640253Missing in allele 1.32. 1
Natural variantiVAR_022641401S → G in allele 1.21. 3 PublicationsCorresponds to variant rs33941312dbSNPEnsembl.1
Natural variantiVAR_022619408S → A in allele 1.51. 5 PublicationsCorresponds to variant rs1042127dbSNPEnsembl.1
Natural variantiVAR_022620410S → L in allele 2.11, allele 2.21, allele 2.22 and allele 2.23. 7 PublicationsCorresponds to variant rs3132554dbSNPEnsembl.1
Natural variantiVAR_022621527D → N in allele 2.21, allele 2.22 and allele 2.23. 3 PublicationsCorresponds to variant rs3130981dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20815 mRNA. Translation: AAA21321.1. Sequence problems.
AF030130 mRNA. Translation: AAC24196.1.
AF491328, AF491327 Genomic DNA. Translation: AAN70995.1.
AF491330, AF491329 Genomic DNA. Translation: AAN70996.1.
AF491326, AF491325 Genomic DNA. Translation: AAN70994.1.
AL662844 Genomic DNA. Translation: CAI18323.1.
AL662867 Genomic DNA. Translation: CAI17719.1.
AL773544 Genomic DNA. Translation: CAI18479.1.
BX927139 Genomic DNA. Translation: CAQ10501.1.
CR759805 Genomic DNA. Translation: CAQ08046.1.
CR753819 Genomic DNA. Translation: CAQ10590.1.
CH471081 Genomic DNA. Translation: EAX03358.1.
BA000025 Genomic DNA. Translation: BAB63316.1. Different initiation.
AB088114 Genomic DNA. Translation: BAC54948.1. Different initiation.
BC031993 mRNA. Translation: AAH31993.1.
AF224747 Genomic DNA. Translation: AAF78559.1.
AF224748 Genomic DNA. Translation: AAF78560.1.
AF224749 Genomic DNA. Translation: AAF78561.1.
AF224750 Genomic DNA. Translation: AAF78562.1.
AF224751 Genomic DNA. Translation: AAF78563.1.
AF224752 Genomic DNA. Translation: AAF78564.1.
AF224753 Genomic DNA. Translation: AAF78565.1.
AF224754 Genomic DNA. Translation: AAF78566.1.
AF224755 Genomic DNA. Translation: AAF78567.1.
AF224756 Genomic DNA. Translation: AAF78568.1.
AF224757 Genomic DNA. Translation: AAF78569.1.
AF224758 Genomic DNA. Translation: AAF78570.1.
AF286165 Genomic DNA. Translation: AAG02419.1.
AJ238461 Genomic DNA. Translation: CAB57266.1.
AJ238462 Genomic DNA. Translation: CAB57267.1.
AJ238463 Genomic DNA. Translation: CAB57268.1.
AJ238464 Genomic DNA. Translation: CAB57269.1.
AJ238465 Genomic DNA. Translation: CAB57270.1.
AJ238466 Genomic DNA. Translation: CAB57271.1.
AJ238467 Genomic DNA. Translation: CAB57272.1.
PIRiA48679.
RefSeqiNP_001255.3. NM_001264.4.
UniGeneiHs.310958.
Hs.556031.

Genome annotation databases

EnsembliENST00000259726; ENSP00000259726; ENSG00000137197.
ENST00000418599; ENSP00000392863; ENSG00000237123.
ENST00000445893; ENSP00000388386; ENSG00000237114.
ENST00000457875; ENSP00000399604; ENSG00000237165.
GeneIDi1041.
KEGGihsa:1041.
UCSCiuc011fbm.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20815 mRNA. Translation: AAA21321.1. Sequence problems.
AF030130 mRNA. Translation: AAC24196.1.
AF491328, AF491327 Genomic DNA. Translation: AAN70995.1.
AF491330, AF491329 Genomic DNA. Translation: AAN70996.1.
AF491326, AF491325 Genomic DNA. Translation: AAN70994.1.
AL662844 Genomic DNA. Translation: CAI18323.1.
AL662867 Genomic DNA. Translation: CAI17719.1.
AL773544 Genomic DNA. Translation: CAI18479.1.
BX927139 Genomic DNA. Translation: CAQ10501.1.
CR759805 Genomic DNA. Translation: CAQ08046.1.
CR753819 Genomic DNA. Translation: CAQ10590.1.
CH471081 Genomic DNA. Translation: EAX03358.1.
BA000025 Genomic DNA. Translation: BAB63316.1. Different initiation.
AB088114 Genomic DNA. Translation: BAC54948.1. Different initiation.
BC031993 mRNA. Translation: AAH31993.1.
AF224747 Genomic DNA. Translation: AAF78559.1.
AF224748 Genomic DNA. Translation: AAF78560.1.
AF224749 Genomic DNA. Translation: AAF78561.1.
AF224750 Genomic DNA. Translation: AAF78562.1.
AF224751 Genomic DNA. Translation: AAF78563.1.
AF224752 Genomic DNA. Translation: AAF78564.1.
AF224753 Genomic DNA. Translation: AAF78565.1.
AF224754 Genomic DNA. Translation: AAF78566.1.
AF224755 Genomic DNA. Translation: AAF78567.1.
AF224756 Genomic DNA. Translation: AAF78568.1.
AF224757 Genomic DNA. Translation: AAF78569.1.
AF224758 Genomic DNA. Translation: AAF78570.1.
AF286165 Genomic DNA. Translation: AAG02419.1.
AJ238461 Genomic DNA. Translation: CAB57266.1.
AJ238462 Genomic DNA. Translation: CAB57267.1.
AJ238463 Genomic DNA. Translation: CAB57268.1.
AJ238464 Genomic DNA. Translation: CAB57269.1.
AJ238465 Genomic DNA. Translation: CAB57270.1.
AJ238466 Genomic DNA. Translation: CAB57271.1.
AJ238467 Genomic DNA. Translation: CAB57272.1.
PIRiA48679.
RefSeqiNP_001255.3. NM_001264.4.
UniGeneiHs.310958.
Hs.556031.

3D structure databases

DisProtiDP00706.
ProteinModelPortaliQ15517.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107472. 15 interactors.
IntActiQ15517. 6 interactors.
MINTiMINT-2857469.

PTM databases

iPTMnetiQ15517.
PhosphoSitePlusiQ15517.

Polymorphism and mutation databases

BioMutaiCDSN.
DMDMi296439412.

Proteomic databases

MaxQBiQ15517.
PaxDbiQ15517.
PeptideAtlasiQ15517.
PRIDEiQ15517.

Protocols and materials databases

DNASUi1041.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259726; ENSP00000259726; ENSG00000137197.
ENST00000418599; ENSP00000392863; ENSG00000237123.
ENST00000445893; ENSP00000388386; ENSG00000237114.
ENST00000457875; ENSP00000399604; ENSG00000237165.
GeneIDi1041.
KEGGihsa:1041.
UCSCiuc011fbm.3. human.

Organism-specific databases

CTDi1041.
DisGeNETi1041.
GeneCardsiCDSN.
HGNCiHGNC:1802. CDSN.
HPAiHPA044730.
HPA054184.
MalaCardsiCDSN.
MIMi146520. phenotype.
270300. phenotype.
602593. gene.
neXtProtiNX_Q15517.
Orphaneti90368. Hypotrichosis simplex of the scalp.
263553. Peeling skin syndrome type B.
PharmGKBiPA26348.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IENZ. Eukaryota.
ENOG41118PZ. LUCA.
HOVERGENiHBG081074.
InParanoidiQ15517.
OrthoDBiEOG091G0HWG.
PhylomeDBiQ15517.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137197-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GeneWikiiCorneodesmosin.
GenomeRNAii1041.
PROiQ15517.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137197.

Family and domain databases

InterProiIPR026087. Corneodesmosin.
[Graphical view]
PANTHERiPTHR23207. PTHR23207. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCDSN_HUMAN
AccessioniPrimary (citable) accession number: Q15517
Secondary accession number(s): B0S7V2
, B0UYZ7, O43509, Q5SQ85, Q5STD2, Q7LA70, Q7LA71, Q86Z04, Q8IZU4, Q8IZU5, Q8IZU6, Q8N5P3, Q95IF9, Q9NP52, Q9NPE0, Q9NPG5, Q9NRH4, Q9NRH5, Q9NRH6, Q9NRH7, Q9NRH8, Q9UBH8, Q9UIN6, Q9UIN7, Q9UIN8, Q9UIN9, Q9UIP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 150 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.