MYO5A

Chr 15q21.2

myosin VA

Aliases:: MYO5, GS1, MYR12
MANE:: ENST00000399233.7

OMIM: 160777 ↗NCBI: 4644 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYO5A · Q9Y4I1

v62025-08-01

Predicted Aligned Error matrix for MYO5A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.7/ 100

Confident

1,855 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)51%
Low(50–70)13%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomal
Vici Syndrome and other autophagy disorders
BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Griscelli syndrome type 1
0.73
Griscelli disease
0.70
Griscelli disease type 1
0.64
Griscelli syndrome type 3
0.50
neuroectodermal melanolysosomal disease
0.47
Griscelli disease type 3
0.47
Griscelli syndrome
0.46
acrocephalopolydactyly
0.37
cutaneous leishmaniasis
0.37
spitz nevus
0.37

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

Protein function (UniProt)

Unconventional myosin-Va

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane (By similarity). May also be required for some polarization process involved in dendrite formation (By similarity)