THUMPD1

Chr 16p12.3

THUMP domain 1 NAT10 acetyltransferase adaptor

Aliases:: FLJ20274, Tan1
MANE:: ENST00000396083.7

OMIM: 616662 ↗NCBI: 55623 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

THUMPD1 · Q9NXG2

v62025-08-01

Predicted Aligned Error matrix for THUMPD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

353 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)9%
Low(50–70)11%
Very low(< 50)29%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with speech delay and variable ocular anomalies
0.70
neurodevelopmental disorder
0.52
hereditary disease
0.34
neurodegenerative disease
0.30
cancer
0.08
insomnia
0.07
breast carcinoma
0.07
breast cancer
0.06
spinocerebellar ataxia type 32
0.05
spermatogenic failure, X-linked, 2
0.04

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

Protein function (UniProt)

THUMP domain-containing protein 1

Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C) (PubMed:25653167, PubMed:35196516)