ACTN1

Chr 14q24.1

actinin alpha 1

MANE:: ENST00000394419.9

OMIM: 102575 ↗NCBI: 87 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ACTN1 · P12814

v62025-08-01

Predicted Aligned Error matrix for ACTN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

892 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)41%
Low(50–70)7%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

platelet-type bleeding disorder 15
0.78
Macrothrombocytopenia
0.62
autosomal dominant macrothrombocytopenia
0.55
Thrombocytopenia
0.48
type 2 diabetes mellitus
0.41
hereditary disease
0.38
restless legs syndrome
0.36
diabetes mellitus
0.33
migraine disorder
0.33
chronic obstructive pulmonary disease
0.29

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

Protein function (UniProt)

Alpha-actinin-1

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882)