Q15517 · CDSN_HUMAN
- ProteinCorneodesmosin
- GeneCDSN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids529 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Important for the epidermal barrier integrity.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cell-cell junction | |
Cellular Component | cornified envelope | |
Cellular Component | desmosome | |
Cellular Component | extracellular region | |
Cellular Component | plasma membrane | |
Molecular Function | protein homodimerization activity | |
Biological Process | amyloid fibril formation | |
Biological Process | cell adhesion | |
Biological Process | cell-cell adhesion | |
Biological Process | corneocyte desquamation | |
Biological Process | epidermis development | |
Biological Process | keratinocyte differentiation | |
Biological Process | negative regulation of cornification | |
Biological Process | skin morphogenesis |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCorneodesmosin
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ15517
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Found in corneodesmosomes, the intercellular structures that are involved in desquamation.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Hypotrichosis 2 (HYPT2)
- Note
- 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. HYPT2 inheritance is autosomal dominant.
- See alsoMIM:146520
Peeling skin syndrome 1 (PSS1)
- Note
- 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 alsoMIM:270300
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022615 | 18 | in dbSNP:rs3095318 | |||
Sequence: M → L | ||||||
Natural variant | VAR_022637 | 56 | in allele 1.31 and allele 1.32; dbSNP:rs7742033 | |||
Sequence: L → F | ||||||
Natural variant | VAR_022616 | 143 | in dbSNP:rs3130984 | |||
Sequence: N → S | ||||||
Natural variant | VAR_022638 | 143 | in allele 2.11 | |||
Sequence: Missing | ||||||
Natural variant | VAR_046010 | 145 | in dbSNP:rs6457328 | |||
Sequence: G → S | ||||||
Natural variant | VAR_022639 | 150 | in allele 2.21, allele 2.22 and allele 2.23; dbSNP:rs1184132826 | |||
Sequence: S → N | ||||||
Natural variant | VAR_022617 | 153 | ||||
Sequence: Missing | ||||||
Natural variant | VAR_022618 | 202 | in allele 1.41, allele 1.42 and allele 1.43; dbSNP:rs707913 | |||
Sequence: F → S | ||||||
Natural variant | VAR_022640 | 253 | in allele 1.32 | |||
Sequence: Missing | ||||||
Natural variant | VAR_022641 | 401 | in allele 1.21; dbSNP:rs33941312 | |||
Sequence: S → G | ||||||
Natural variant | VAR_022619 | 408 | in allele 1.51; dbSNP:rs1042127 | |||
Sequence: S → A | ||||||
Natural variant | VAR_022620 | 410 | in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.41, allele 1.42, allele 1.43, allele 1.51 and allele 1.52; dbSNP:rs3132554 | |||
Sequence: L → S | ||||||
Natural variant | VAR_022621 | 527 | in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.41, allele 1.42, allele 1.43, allele 1.51, allele 1.52 and allele 2.11; dbSNP:rs3130981 | |||
Sequence: N → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 621 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-32 | |||||
Sequence: MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLA | ||||||
Chain | PRO_0000020912 | 33-529 | Corneodesmosin | |||
Sequence: KSIGTFSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYIPSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLNSP | ||||||
Glycosylation | 172 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 38-248 | Disordered | ||||
Sequence: FSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYIPSSHSVSG | ||||||
Compositional bias | 43-222 | Polar residues | ||||
Sequence: KDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDI | ||||||
Region | 383-492 | Disordered | ||||
Sequence: GSTGSKGPCSPSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSSAG | ||||||
Compositional bias | 385-470 | Polar residues | ||||
Sequence: TGSKGPCSPSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGG |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length529
- Mass (Da)51,607
- Last updated2024-01-24 v4
- Checksum01BF5C83AE68E772
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
Q2L6G8 | Q2L6G8_HUMAN | CDSN | 529 |
Sequence caution
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 43-222 | Polar residues | ||||
Sequence: KDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDI | ||||||
Compositional bias | 385-470 | Polar residues | ||||
Sequence: TGSKGPCSPSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGG | ||||||
Sequence conflict | 406 | in Ref. 8; AAH31993 | ||||
Sequence: S → G | ||||||
Sequence conflict | 453 | in Ref. 3; AAN70995 | ||||
Sequence: S → N |
Polymorphism
Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900] (PubMed:10599883, PubMed:10844560, PubMed:12472658).
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).
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).
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
L20815 EMBL· GenBank· DDBJ | AAA21321.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AF030130 EMBL· GenBank· DDBJ | AAC24196.1 EMBL· GenBank· DDBJ | mRNA | ||
AF491328 EMBL· GenBank· DDBJ | AAN70995.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF491327 EMBL· GenBank· DDBJ | AAN70995.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF491330 EMBL· GenBank· DDBJ | AAN70996.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF491329 EMBL· GenBank· DDBJ | AAN70996.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF491326 EMBL· GenBank· DDBJ | AAN70994.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF491325 EMBL· GenBank· DDBJ | AAN70994.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
KY500785 EMBL· GenBank· DDBJ | AQY77255.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL662844 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL662867 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL773544 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BX927139 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CR759805 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CR753819 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471081 EMBL· GenBank· DDBJ | EAX03358.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BA000025 EMBL· GenBank· DDBJ | BAB63316.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
AB088114 EMBL· GenBank· DDBJ | BAC54948.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
BC031993 EMBL· GenBank· DDBJ | AAH31993.1 EMBL· GenBank· DDBJ | mRNA | ||
AF224747 EMBL· GenBank· DDBJ | AAF78559.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224748 EMBL· GenBank· DDBJ | AAF78560.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224749 EMBL· GenBank· DDBJ | AAF78561.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224750 EMBL· GenBank· DDBJ | AAF78562.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224751 EMBL· GenBank· DDBJ | AAF78563.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224752 EMBL· GenBank· DDBJ | AAF78564.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224753 EMBL· GenBank· DDBJ | AAF78565.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224754 EMBL· GenBank· DDBJ | AAF78566.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224755 EMBL· GenBank· DDBJ | AAF78567.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224756 EMBL· GenBank· DDBJ | AAF78568.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224757 EMBL· GenBank· DDBJ | AAF78569.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF224758 EMBL· GenBank· DDBJ | AAF78570.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF286165 EMBL· GenBank· DDBJ | AAG02419.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238461 EMBL· GenBank· DDBJ | CAB57266.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238462 EMBL· GenBank· DDBJ | CAB57267.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238463 EMBL· GenBank· DDBJ | CAB57268.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238464 EMBL· GenBank· DDBJ | CAB57269.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238465 EMBL· GenBank· DDBJ | CAB57270.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238466 EMBL· GenBank· DDBJ | CAB57271.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ238467 EMBL· GenBank· DDBJ | CAB57272.1 EMBL· GenBank· DDBJ | Genomic DNA |