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keratin, type 2 cuticular Hb1; type II hair keratin Hb1; keratin, hair, basic, 1; ghHKb1; ghHb1; keratin-81; K81; K2.9; MLN 137 (KRT81, KRTHB1, MLN137)
Structure:
- type 2 keratin
- heterotetramer of 2 type 1 & 2 type 2 keratins
- belongs to the intermediate filament family
Expression:
- expressed in differentiating cortex of growing (anagen) hair
- expression restricted to keratinocytes of hair cortex; absent from inner root sheath & medulla
Pathology:
- defects in KRTHB1 are a cause of monilethrix
Related
monilethrix
General
basic hair keratin or type II hair keratin
Properties
CONFIGURATION: oligomer
SIZE: entity length = 505 aa
MW = 55 kD
COMPARTMENT: cytoplasm
MOTIF: Head {1-106}
O-glycosylation site {N-TERMINAL}
rod-like {central-region}
MOTIF: alpha helix
coiled coil
Rod {107-413}
MOTIF: Coil 1A {107-141}
Linker 1 {142-151}
Coil 1B {152-252}
Linker 12 {253-269}
Coil 2 {270-413}
glutamate-rich region {C-TERMINAL}
MOTIF: glutamate residue (SEVERAL)
Ser phosphorylation site (SEVERAL)
MOTIF-SEQUENCE: KSP
Tail {414-505}
Database Correlations
OMIM correlations
MORBIDMAP 602153
UniProt Q14533
Pfam PF00038
Entrez Gene 3887
Kegg hsa:3887
References
- Entrez Gene :accession 3887
- UniProt :accession Q9UBU7