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keratin, type 2 cytoskeletal 1; cytokeratin-1; CK-1; keratin-1; K1; 67 kD cytokeratin; hair alpha protein (KRT1 KRTA)
Function:
- may regulate activity of kinases such as PKC & SRC via binding to integrin beta-1 (ITB1) & the receptor of activated protein kinase C (RACK1/GNB2L1)
- undergoes deimination of some Arg (citrullination)
- heterotetramer of 2 type 1 keratins & 2 type 2 keratins
- cytokeratin-1 is generally associated with cytokeratin-10
- interacts with ITGB1 in the presence of GNB2L1 & SRC, & with GNB2L1
Structure:
- type 2 keratin
- belongs to the intermediate filament family
Compartment:
- cell membrane
- located on plasma membrane of neuroblastoma NMB7 cells
Expression:
- isolated from neonatal foreskin
- 67-kD type 2 cytokeratins are expressed in terminally differentiating epidermis
- cytokeratin-1 & cytokeratin-10 are expressed in keratinizing squamous epithelium & squamous cell carcinomas
Polymorphism:
- there are 2 size variants of KRT1, termed allele 1A & allele 1B with allelic frequencies of 0.61 & 0.39
- allele 1B lacks 7 residues compared to allele 1A
Pathology:
- defects in KRT1 are a cause of
a) epidermolytic hyperkeratosis
b) palmoplantar keratoderma non-epidermolytic
c) ichthyosis annular epidermolytic
- defects in KRT1 are the cause of
a) ichthyosis hystrix Curth-Macklin type
b) palmoplantar keratoderma striate type-3
General
cytokeratin, epithelial keratins or soft alpha-keratins
phosphoprotein
Properties
CONFIGURATION: oligomer
SIZE: entity length = 644 aa
MW = 66 kD
COMPARTMENT: cytoplasm
MOTIF: Head {2-179}
MOTIF: serine-rich region {2-151}
MOTIF: serine residue (SEVERAL)
Ser phosphorylation site {S21}
Ser phosphorylation site {S66}
Rod {180-489}
MOTIF: Coil 1A {180-215}
Linker 1 {216-234}
Coil 1B {235-326}
Tyr phosphorylation site {Y295}
Thr phosphorylation site {T297}
Linker 12 {327-350}
Coil 2 {351-489}
glycine residue {433}
Tail {490-644}
MOTIF: serine-rich region {502-641}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 139350
UniProt P04264
Entrez Gene 3848
Kegg hsa:3848
References
- Dabbs. Diagnostic Immunohistochemistry. Churchill Livingstone,
2002. page 167.
- Entrez Gene :accession 3848
- UniProt :accession P04264
- Human intermediate Filament mutation Database
http://www.interfil.org
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT1
- Wikipedia; Note: keratin-1 entry
http://en.wikipedia.org/wiki/keratin_1