CAST

Chr 5q15

calpastatin

MANE:: ENST00000675179.1

OMIM: 114090 ↗NCBI: 831 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CAST · P20810

v62025-08-01

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

Mean pLDDT

59.2/ 100

Low

708 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)29%
Low(50–70)22%
Very low(< 50)44%

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
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Peeling skin syndrome
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
0.69
Alzheimer disease
0.39
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
0.38
cheilitis
0.37
punctate palmoplantar keratoderma
0.37
autoimmune disorder of central nervous system
0.26
neurodegenerative disease
0.17
neoplasm
0.09
Huntington disease
0.09
breast cancer
0.08

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

Protein function (UniProt)

DNA-directed RNA polymerase I subunit RPA34

Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Involved in UBTF-activated transcription, presumably at a step following PIC formation