MAST1

Chr 19p13.13

microtubule associated serine/threonine kinase 1

Aliases:: SAST, KIAA0973
MANE:: ENST00000251472.9

OMIM: 612256 ↗NCBI: 22983 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAST1 · Q9Y2H9

v62025-08-01

Predicted Aligned Error matrix for MAST1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.2/ 100

Low

1,570 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)63%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
0.77
Cerebellar hypoplasia
0.37
neurodegenerative disease
0.37
hereditary disease
0.19
mathematical ability
0.13
Intellectual disability
0.12
cancer
0.10
non-small cell lung carcinoma
0.08
autosomal recessive primary microcephaly
0.08
Genetic central nervous system malformation
0.08

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

Protein function (UniProt)

Microtubule-associated serine/threonine-protein kinase 1

Microtubule-associated protein essential for correct brain development (PubMed:30449657). Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity)