Entity Details

Primary name CDSN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15517
EntryNameCDSN_HUMAN
FullNameCorneodesmosin
TaxID9606
Evidenceevidence at protein level
Length529
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesCDSN

GO terms

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GOName
GO:0001533 cornified envelope
GO:0003336 corneocyte desquamation
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007155 cell adhesion
GO:0008544 epidermis development
GO:0030057 desmosome
GO:0030216 keratinocyte differentiation
GO:0042803 protein homodimerization activity
GO:0043589 skin morphogenesis
GO:0070268 cornification
GO:0098609 cell-cell adhesion
GO:1905716 negative regulation of cornification

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR026087 CorneodesmosinFamilyFamily

Diseases

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Disease IDSourceNameDescription
270300 OMIMPeeling skin syndrome 1 (PSS1)A 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. The disease is caused by variants affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404).
146520 OMIMHypotrichosis 2 (HYPT2)A 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

41 interactions

InteractorPartnerSourcesPublicationsLink
CDSN_HUMANUBQL4_HUMANBioGRID, HPRD, IntAct16713569 details
CDSN_HUMANZDH17_HUMANBioGRID, IntAct24705354 details
CDSN_HUMANCEP55_HUMANBioGRID, IntAct25416956 31515488 details
CDSN_HUMANKLK7_HUMANBioGRID15140227 details
CDSN_HUMANCDSN_HUMANBioGRID, HPRD11739386 details
CDSN_HUMANUCHL5_HUMANBioGRID21800051 details
CDSN_HUMANSMRD1_HUMANBioGRID32296183 details
CDSN_HUMANDESI1_HUMANBioGRID32296183 details
CDSN_HUMANNELFD_HUMANBioGRID32296183 details
CDSN_HUMANCSTF2_HUMANBioGRID32296183 details
CDSN_HUMANSGTA_HUMANBioGRID32296183 details
CDSN_HUMANNCS1_HUMANBioGRID32296183 details
CDSN_HUMANCSEN_HUMANBioGRID32296183 details
CDSN_HUMANEXOC8_HUMANBioGRID32296183 details
CDSN_HUMANHPCL4_HUMANBioGRID32296183 details
CDSN_HUMANENKD1_HUMANBioGRID32296183 details
CDSN_HUMANPLVAP_HUMANBioGRID32296183 details
CDSN_HUMANAAKB2_HUMANBioGRID32296183 details
CDSN_HUMANUBQL1_HUMANBioGRID32296183 details
CDSN_HUMANTSG10_HUMANBioGRID32296183 details
CDSN_HUMANPARVG_HUMANBioGRID32296183 details
CDSN_HUMANNGAL_HUMANBioGRID32296183 details
CDSN_HUMANTGM7_HUMANBioGRID32296183 details
CDSN_HUMANVISL1_HUMANBioGRID32296183 details
CDSN_HUMANBANP_HUMANBioGRID32296183 details
CDSN_HUMANEIF3F_HUMANBioGRID32296183 details
CDSN_HUMANFAM9B_HUMANBioGRID32296183 details
CDSN_HUMANCSTFT_HUMANBioGRID32296183 details
CDSN_HUMANCTNA3_HUMANBioGRID32296183 details
CDSN_HUMANHGS_HUMANBioGRID32296183 details
CDSN_HUMANTRI69_HUMANBioGRID32296183 details
CDSN_HUMANUBQL2_HUMANBioGRID32296183 details
CDSN_HUMANSGTB_HUMANBioGRID32296183 details
CDSN_HUMANASPH_HUMANBioGRID32296183 details
CDSN_HUMANIPIL1_HUMANBioGRID32296183 details
CDSN_HUMANBAG6_HUMANBioGRID32296183 details
CDSN_HUMANCCHCR_HUMANBioGRID32296183 details
CDSN_HUMANATX1L_HUMANBioGRID32296183 details
CDSN_HUMANACE2_HUMANBioGRID888800000219 888800000234 details
CDSN_HUMAN3MG_HUMANBioGRID23537643 details
CDSN_HUMANPTEN_HUMANBioGRID29117568 details