HIBADH Gene Summary [Human]
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | HIBADH |
| Official Name | 3-hydroxyisobutyrate dehydrogenase [Source:HGNC Symbol;Acc:HGNC:4907] |
| Ensembl ID | ENSG00000106049 |
| Bio databases IDs | |
| Aliases | 3-hydroxyisobutyrate dehydrogenase |
| Synonyms | 3-hydroxyisobutyrate dehydrogenase, 6430402H10RIK, NS5ATP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HIBADH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase
- 2-hydroxy-3-oxopropionate reductase
- NAD binding domain of 6-phosphogluconate dehydrogenase
- 3-hydroxyisobutyrate dehydrogenase
- enzyme
- protein binding
- E1_enzyme_family
- garR
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- liver cancer
- epithelial cancer
- hepatocellular carcinoma
- breast cancer
- non-insulin-dependent diabetes mellitus
- acute myeloid leukemia
- androgenic alopecia
- cold thyroid nodule
- kidney stones
regulates
- valine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HIBADH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- valine catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- NADP binding
- protein binding
- NAD binding
- 3-hydroxyisobutyrate dehydrogenase activity