MYOD1

Chr 11p15.1

myogenic differentiation 1

Aliases:: PUM, MYOD, bHLHc1
MANE:: ENST00000250003.4

OMIM: 159970 ↗NCBI: 4654 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYOD1 · P15172

v62025-08-01

Predicted Aligned Error matrix for MYOD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.2/ 100

Low

320 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)7%
Low(50–70)31%
Very low(< 50)42%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
0.68
neurodegenerative disease
0.46
rhabdomyosarcoma
0.44
Hodgkins lymphoma
0.39
spindle cell rhabdomyosarcoma
0.37
embryonal rhabdomyosarcoma
0.37
fetal akinesia deformation sequence
0.37
cecum adenocarcinoma
0.37
gastric carcinoma
0.37
gastric adenocarcinoma
0.37

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

Protein function (UniProt)

Myoblast determination protein 1

Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity)