MYBBP1A

Chr 17p13.2

MYB binding protein 1a

Aliases:: P160, PAP2, FLJ37886, Pol5
MANE:: ENST00000254718.9

OMIM: 604885 ↗NCBI: 10514 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYBBP1A · Q9BQG0

v62025-08-01

Predicted Aligned Error matrix for MYBBP1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.9/ 100

Confident

1,328 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)37%
Low(50–70)5%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.51
Non-immune hydrops fetalis
0.37
ventricular septal defect
0.21
lysosomal storage disease
0.19
Meniere disease
0.16
autism
0.11
neoplasm
0.11
stomach disorder
0.09
hepatocellular carcinoma
0.08
placental abruption
0.08

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

Protein function (UniProt)

Myb-binding protein 1A

May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309)