RUVBL1

Gene

RuvB like AAA ATPase 1

HGNCHGNC:10474 EnsemblENSG00000175792 NCBI Gene8607

Locus: gene with protein productLocation: 3q21.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asTIP49 · NMP238 · RVB1 · TIP49a · Pontin52 · ECP54 · TIH1 · INO80H

View full nomenclature history (14)

Alias symbolsTIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, INO80H

Previous namesRuvB (E coli homolog)-like 1, RuvB-like 1 (E. coli), RuvB-like AAA ATPase, RuvB-like AAA ATPase 1

Alias namespontin, INO80 complex subunit H

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Asthma

Pulmonary Disease, Chronic Obstructive

Prostate carcinoma

Neuromuscular Diseases

Polycystic Ovary Syndrome

Childhood onset asthma

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

AAA ATPasesINO80 complexHelicasesSRCAP complex subunitsR2TP complexTip60/Nua4 histone acetyltransferase complex subunitsR2SP complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.