KRT1

Chr 12q13.13

keratin 1

Aliases:: KRT1A
MANE:: ENST00000252244.3

OMIM: 139350 ↗NCBI: 3848 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KRT1 · P04264

v62025-08-01

Predicted Aligned Error matrix for KRT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.1/ 100

Low

644 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)17%
Low(50–70)6%
Very low(< 50)49%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Peeling skin syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

epidermolytic ichthyosis
0.84
diffuse nonepidermolytic palmoplantar keratoderma
0.71
Non-epidermolytic palmoplantar keratoderma
0.70
ichthyosis hystrix of Curth-Macklin
0.68
epidermolytic palmoplantar keratoderma, 1
0.67
annular epidermolytic ichthyosis
0.62
Nonepidermolytic palmoplantar hyperkeratosis
0.51
ichthyosis, annular epidermolytic 1
0.50
keratosis palmoplantaris striata 3
0.50
Palmoplantar keratoderma
0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Keratin, type II cytoskeletal 1

Structural component of intermediate filaments in suprabasal keratinocytes of stratified epithelia. Forms heteropolymers with a type I keratin, assembling into keratin intermediate filament networks that provide mechanical strength and structural stability to differentiating epidermal cells (PubMed:1381288). May regulate the activity of kinases such as PKC and SRC by interacting with integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1) (PubMed:17956333, PubMed:21544310). In complex with C1QBP, acts as a high-affinity receptor for kininogen-1 (HMWK) (PubMed:21544310)