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keratin, type 2 cytoskeletal 5; cytokeratin-5; CK-5; keratin-5; K5; 58 kD cytokeratin (KRT5)
Function:
- cytokeratin-5 associates with cytokeratin-14
- interacts with TCHP
Structure:
- type 2 keratin
- heterotetramer of 2 type 1 & 2 type 1 keratins
- belongs to the intermediate filament family
Expression:
- cytokeratin-5 & cytokeratin-14 are expressed in basal layer of epidermis
Pathology:
- defects in KRT5 are a cause of:
a) epidermolysis bullosa simplex, Dowling-Meara type
b) epidermolysis bullosa simplex, Weber-Cockayne type
c) epidermolysis bullosa simplex, Koebner type
- defects in KRT5 are the cause of:
a) EBS with migratory circinate erythema (EBSMCE)
b) epidermolysis bullosa simplex with mottled pigmentation
c) Dowling-Degos-Kitamura disease
* EBS = epidermolysis bullosa simplex
Related
cytokeratin-5 Ag in tissue
epidermolysis bullosa simplex (EBS)
General
cytokeratin, epithelial keratins or soft alpha-keratins
phosphoprotein
Properties
CONFIGURATION: oligomer
SIZE: entity length = 590 aa
MW = 62 kD
COMPARTMENT: cytoplasm
MOTIF: Head {1-167}
MOTIF: glycine-rich region {39-139}
Tyr phosphorylation site {Y60}
Ser phosphorylation site {S64}
Tyr phosphorylation site {Y66}
Rod {168-477}
MOTIF: Coil 1A {168-203}
Linker 1 {204-222}
Coil 1B {223-315}
Linker 12 {316-338}
Coil 2 {339-477}
glutamine residue {419}
Tail {478-590}
MOTIF: serine-rich region {528-590}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 148040
UniProt P13647
Pfam PF00038
Entrez Gene 3852
Kegg hsa:3852
References
- Entrez Gene :accession 3852
- UniProt :accession P13647
- Human intermediate Filament mutation Database
http://www.interfil.org
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT5