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MGP001786

UniProt Annotations

Entry Information
Gene Namekeratin 5, type II
Protein EntryK2C5_HUMAN
UniProt IDP13647
SpeciesHuman
Comments
Comment typeDescription
DiseaseDowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269|PubMed:16465624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseEpidermolysis bullosa simplex, Dowling-Meara type (DM- EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:1372711, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:8757772, ECO:0000269|PubMed:9036937, ECO:0000269|PubMed:9406827, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseEpidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. {ECO:0000269|PubMed:11407988, ECO:0000269|PubMed:11973334, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:7534039, ECO:0000269|PubMed:7686424, ECO:0000269|PubMed:9740251, ECO:0000269|PubMed:9989794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseEpidermolysis bullosa simplex, Weber-Cockayne type (WC- EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269|PubMed:10782015, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14723728, ECO:0000269|PubMed:15140024, ECO:0000269|PubMed:15347343, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:7506097, ECO:0000269|PubMed:7520042, ECO:0000269|PubMed:7688477, ECO:0000269|PubMed:8595431, ECO:0000269|PubMed:8807337, ECO:0000269|PubMed:9804357}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseEpidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseEpidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. {ECO:0000269|PubMed:10494094, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:8799157}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionP18054:ALOX12; NbExp=7; IntAct=EBI-702187, EBI-1633210; Q13835-2:PKP1; NbExp=2; IntAct=EBI-702187, EBI-9087684;
MiscellaneousThere are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
SimilarityBelongs to the intermediate filament family. {ECO:0000305}.
SubunitHeterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP. {ECO:0000269|PubMed:15731013, ECO:0000269|PubMed:22705788}.
Web ResourceName=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
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