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A reference for what the literature reports. Not medical advice.

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Proteins/UNIPROT:Q9NXG2

THUMPD1

Protein·UNIPROT:Q9NXG2

Open in the graph

Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C)..

Function from UniProtKB (Q9NXG2), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

Inferred

Inferred — not reported by a source. Evidence key

GenCC submitters' classifications

1 row

neurodevelopmental disorder with speech delay and variable ocular anomalies has a germline basis in THUMPD1DiseaseGenCC HGNC:23807|MONDO:0859272Inferred only

Statements

5 statements

5 statements · 2 reference databases · Subject: THUMPD1 · Sources: Hetionet, Reactome

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UBC interacts with THUMPD1ProteinHetionet hetionet:interacts:55623-7316Inferred only
THUMPD1 participates in Metabolism of RNAPathwayReactome R-HSA-8953854Inferred only
THUMPD1 participates in rRNA modification in the nucleus and cytosolPathwayReactome R-HSA-6790901Inferred only
THUMPD1 participates in rRNA processingPathwayReactome R-HSA-72312Inferred only
THUMPD1 participates in rRNA processing in the nucleus and cytosolPathwayReactome R-HSA-8868773Inferred only

Other names

1 name

Resolves to: THUMPD1

Also called: THUMP domain-containing protein 1

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