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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...

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

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)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3232Sequence analysisAdd
BLAST
Chaini33 – 529497CorneodesmosinPRO_0000020912Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi172 – 1721N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ15517.
MaxQBiQ15517.
PaxDbiQ15517.
PeptideAtlasiQ15517.
PRIDEiQ15517.

PTM databases

iPTMnetiQ15517.

Expressioni

Tissue specificityi

Exclusively expressed in skin.

Organism-specific databases

HPAiHPA044730.
HPA054184.

Interactioni

GO - Molecular functioni

  • protein homodimerization activity Source: MGI

Protein-protein interaction databases

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

Structurei

3D structure databases

DisProtiDP00706.
ProteinModelPortaliQ15517.
SMRiQ15517. Positions 4-50.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi62 – 464403Ser-richAdd
BLAST

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IENZ. Eukaryota.
ENOG41118PZ. LUCA.
HOVERGENiHBG081074.
InParanoidiQ15517.
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 AAA21321.1 differs from that shown. Reason: Frameshift at position 501. Curated
The sequence BAB63316.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC54948.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti406 – 4061S → G in AAH31993 (PubMed:15489334).Curated
Sequence conflicti453 – 4531S → N in AAN70995 (PubMed:12366786).Curated

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181M → L.4 Publications
Corresponds to variant rs3095318 [ dbSNP | Ensembl ].
VAR_022615
Natural varianti56 – 561L → F in allele 1.31 and allele 1.32. 1 Publication
Corresponds to variant rs7742033 [ dbSNP | Ensembl ].
VAR_022637
Natural varianti143 – 1431N → S.10 Publications
Corresponds to variant rs3130984 [ dbSNP | Ensembl ].
VAR_022616
Natural varianti143 – 1431Missing in allele 2.11. 1 Publication
VAR_022638
Natural varianti145 – 1451G → S.
Corresponds to variant rs6457328 [ dbSNP | Ensembl ].
VAR_046010
Natural varianti150 – 1501S → N in allele 2.21, allele 2.22 and allele 2.23. 1 Publication
VAR_022639
Natural varianti153 – 1531Missing .3 Publications
VAR_022617
Natural varianti202 – 2021S → 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 Publications
Corresponds to variant rs707913 [ dbSNP | Ensembl ].
VAR_022618
Natural varianti253 – 2531Missing in allele 1.32.
VAR_022640
Natural varianti401 – 4011S → G in allele 1.21. 3 Publications
Corresponds to variant rs33941312 [ dbSNP | Ensembl ].
VAR_022641
Natural varianti408 – 4081S → A in allele 1.51. 5 Publications
Corresponds to variant rs1042127 [ dbSNP | Ensembl ].
VAR_022619
Natural varianti410 – 4101S → L in allele 2.11, allele 2.21, allele 2.22 and allele 2.23. 7 Publications
Corresponds to variant rs3132554 [ dbSNP | Ensembl ].
VAR_022620
Natural varianti527 – 5271D → N in allele 2.21, allele 2.22 and allele 2.23. 3 Publications
Corresponds to variant rs3130981 [ dbSNP | Ensembl ].
VAR_022621

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.
SMRiQ15517. Positions 4-50.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ15517.

Polymorphism and mutation databases

BioMutaiCDSN.
DMDMi296439412.

Proteomic databases

EPDiQ15517.
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.
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.
PhylomeDBiQ15517.

Miscellaneous databases

GeneWikiiCorneodesmosin.
GenomeRNAii1041.
PROiQ15517.
SOURCEiSearch...

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation."
    Zhou Y., Chaplin D.D.
    Proc. Natl. Acad. Sci. U.S.A. 90:9470-9474(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LEU-18 AND SER-143.
    Tissue: Foreskin.
  2. "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."
    Guerrin M., Simon M., Montezin M., Haftek M., Vincent C., Serre G.
    J. Biol. Chem. 273:22640-22647(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-143 AND ALA-408.
    Tissue: Epidermis.
  3. "Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis."
    Hui J., Oka A., Tamiya G., Tomizawa M., Kulski J.K., Penhale W.J., Tay G.K., Iizuka M., Ozawa A., Inoko H.
    Tissue Antigens 60:77-83(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-18; SER-143; SER-153 DEL; PHE-202 AND LEU-410.
  4. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
    Shiina S., Tamiya G., Oka A., Inoko H.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-143.
  5. "Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions."
    Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-143.
  6. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS LEU-18; SER-143; SER-153 DEL; PHE-202; ALA-408; LEU-410 AND ASN-527.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS SER-143 AND PHE-202.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LEU-18; SER-143; SER-153 DEL; PHE-202 AND LEU-410.
    Tissue: Skin.
  9. "Identification of six novel polymorphisms in the human corneodesmosin gene."
    Guerrin M., Vincent C., Simon M., Ahnini R.T., Fort M., Serre G.
    Tissue Antigens 57:32-38(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-529 (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), VARIANTS PHE-56; ASN-143 DEL; ASN-150; PHE-202; GLY-401; ALA-408; LEU-410 AND ASN-527.
  10. "Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris."
    Jenisch S., Koch S., Henseler T., Nair R.P., Elder J.T., Watts C.E., Westphal E., Voorhees J.J., Christophers E., Kroenke M.
    Tissue Antigens 54:439-449(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 106-529, VARIANTS SER-143; PHE-202; GLY-401; ALA-408 AND LEU-410, ASSOCIATION WITH PSORIASIS.
  11. "Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes."
    Simon M., Montezin M., Guerrin M., Durieux J.-J., Serre G.
    J. Biol. Chem. 272:31770-31776(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, CHARACTERIZATION, VARIANT SER-143.
  12. Cited for: INVOLVEMENT IN HYPT2.
  13. "Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease."
    Oji V., Eckl K.M., Aufenvenne K., Natebus M., Tarinski T., Ackermann K., Seller N., Metze D., Nurnberg G., Folster-Holst R., Schafer-Korting M., Hausser I., Traupe H., Hennies H.C.
    Am. J. Hum. Genet. 87:274-281(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN PSS1.
  14. "S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene."
    Enerbaeck C., Enlund F., Inerot A., Samuelsson L., Wahlstroem J., Swanbeck G., Martinsson T.
    J. Invest. Dermatol. 114:1158-1163(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PHE-202 AND LEU-410, ASSOCIATION WITH PSORIASIS.
  15. Cited for: VARIANTS PHE-202; GLY-401; ALA-408; LEU-410 AND ASN-527, ASSOCIATION WITH PSORIASIS.

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: July 6, 2016
This is version 146 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.