Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11112
Gene name	3-hydroxyisobutyrate dehydrogenase
Gene symbol	HIBADH
Synonyms (NCBI Gene)	NS5ATP1
Chromosome	7
Chromosome location	7p15.2
Summary	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, N

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024585	hsa-miR-215-5p	Microarray	19074876
MIRT025320	hsa-miR-34a-5p	Proteomics	21566225
MIRT026367	hsa-miR-192-5p	Microarray	19074876
MIRT649445	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649444	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT649443	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649442	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649441	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649440	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649439	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT649438	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT649437	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT649436	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT649435	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT649434	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649433	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT649432	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649431	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649430	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649445	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649444	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT649443	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649442	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649441	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649440	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649439	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT649438	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT649437	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT649436	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT649435	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT649434	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT649433	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT649432	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649431	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649430	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT1045293	hsa-miR-1185	CLIP-seq
MIRT1045294	hsa-miR-1224-5p	CLIP-seq
MIRT1045295	hsa-miR-1279	CLIP-seq
MIRT1045296	hsa-miR-192	CLIP-seq
MIRT1045297	hsa-miR-215	CLIP-seq
MIRT1045298	hsa-miR-3126-5p	CLIP-seq
MIRT1045299	hsa-miR-3605-5p	CLIP-seq
MIRT1045300	hsa-miR-3616-5p	CLIP-seq
MIRT1045301	hsa-miR-3647-5p	CLIP-seq
MIRT1045302	hsa-miR-3659	CLIP-seq
MIRT1045303	hsa-miR-3679-5p	CLIP-seq
MIRT1045304	hsa-miR-3915	CLIP-seq
MIRT1045305	hsa-miR-4272	CLIP-seq
MIRT1045306	hsa-miR-4305	CLIP-seq
MIRT1045307	hsa-miR-4318	CLIP-seq
MIRT1045308	hsa-miR-4419a	CLIP-seq
MIRT1045309	hsa-miR-4510	CLIP-seq
MIRT1045310	hsa-miR-4658	CLIP-seq
MIRT1045311	hsa-miR-4668-3p	CLIP-seq
MIRT1045312	hsa-miR-4689	CLIP-seq
MIRT1045313	hsa-miR-4693-5p	CLIP-seq
MIRT1045314	hsa-miR-4710	CLIP-seq
MIRT1045315	hsa-miR-4792	CLIP-seq
MIRT1045316	hsa-miR-548c-3p	CLIP-seq
MIRT1045317	hsa-miR-571	CLIP-seq
MIRT1045318	hsa-miR-573	CLIP-seq
MIRT1045319	hsa-miR-574-5p	CLIP-seq
MIRT1045320	hsa-miR-758	CLIP-seq
MIRT1045321	hsa-miR-889	CLIP-seq
MIRT1045322	hsa-miR-892a	CLIP-seq
MIRT2009951	hsa-miR-122	CLIP-seq
MIRT2009952	hsa-miR-1289	CLIP-seq
MIRT2009953	hsa-miR-2110	CLIP-seq
MIRT2009954	hsa-miR-2467-5p	CLIP-seq
MIRT2009955	hsa-miR-3121-3p	CLIP-seq
MIRT2009956	hsa-miR-3150a-3p	CLIP-seq
MIRT2009957	hsa-miR-3173-3p	CLIP-seq
MIRT2009958	hsa-miR-3658	CLIP-seq
MIRT1045302	hsa-miR-3659	CLIP-seq
MIRT2009959	hsa-miR-4426	CLIP-seq
MIRT2009960	hsa-miR-4647	CLIP-seq
MIRT1045310	hsa-miR-4658	CLIP-seq
MIRT2009961	hsa-miR-4662b	CLIP-seq
MIRT2009962	hsa-miR-4695-5p	CLIP-seq
MIRT2009963	hsa-miR-4699-3p	CLIP-seq
MIRT2009964	hsa-miR-4752	CLIP-seq
MIRT2009965	hsa-miR-4797-5p	CLIP-seq
MIRT1045319	hsa-miR-574-5p	CLIP-seq
MIRT2009966	hsa-miR-610	CLIP-seq
MIRT2009967	hsa-miR-616	CLIP-seq
MIRT2009968	hsa-miR-629	CLIP-seq
MIRT1045320	hsa-miR-758	CLIP-seq
MIRT2242333	hsa-miR-1200	CLIP-seq
MIRT2242334	hsa-miR-130a	CLIP-seq
MIRT2242335	hsa-miR-130b	CLIP-seq
MIRT2242336	hsa-miR-298	CLIP-seq
MIRT2242337	hsa-miR-301a	CLIP-seq
MIRT2242338	hsa-miR-301b	CLIP-seq
MIRT2242339	hsa-miR-3134	CLIP-seq
MIRT2242340	hsa-miR-3148	CLIP-seq
MIRT2242341	hsa-miR-361-5p	CLIP-seq
MIRT2242342	hsa-miR-3666	CLIP-seq
MIRT2242343	hsa-miR-3678-3p	CLIP-seq
MIRT2242344	hsa-miR-4292	CLIP-seq
MIRT2242345	hsa-miR-4295	CLIP-seq
MIRT1045306	hsa-miR-4305	CLIP-seq
MIRT2242346	hsa-miR-4307	CLIP-seq
MIRT2242347	hsa-miR-4308	CLIP-seq
MIRT2242348	hsa-miR-4327	CLIP-seq
MIRT2242349	hsa-miR-4517	CLIP-seq
MIRT2242350	hsa-miR-4524	CLIP-seq
MIRT2242351	hsa-miR-4534	CLIP-seq
MIRT2242352	hsa-miR-454	CLIP-seq
MIRT2242353	hsa-miR-4671-3p	CLIP-seq
MIRT2242354	hsa-miR-875-3p	CLIP-seq
MIRT2429566	hsa-miR-659	CLIP-seq
MIRT1045293	hsa-miR-1185	CLIP-seq
MIRT1045294	hsa-miR-1224-5p	CLIP-seq
MIRT2545912	hsa-miR-1228	CLIP-seq
MIRT2545913	hsa-miR-1236	CLIP-seq
MIRT2545914	hsa-miR-1267	CLIP-seq
MIRT2545915	hsa-miR-204	CLIP-seq
MIRT2545916	hsa-miR-211	CLIP-seq
MIRT2009953	hsa-miR-2110	CLIP-seq
MIRT2545917	hsa-miR-217	CLIP-seq
MIRT2009956	hsa-miR-3150a-3p	CLIP-seq
MIRT1045299	hsa-miR-3605-5p	CLIP-seq
MIRT1045300	hsa-miR-3616-5p	CLIP-seq
MIRT1045301	hsa-miR-3647-5p	CLIP-seq
MIRT2009958	hsa-miR-3658	CLIP-seq
MIRT1045303	hsa-miR-3679-5p	CLIP-seq
MIRT2545918	hsa-miR-377	CLIP-seq
MIRT1045304	hsa-miR-3915	CLIP-seq
MIRT2545919	hsa-miR-3974	CLIP-seq
MIRT2545920	hsa-miR-412	CLIP-seq
MIRT1045305	hsa-miR-4272	CLIP-seq
MIRT2545921	hsa-miR-4275	CLIP-seq
MIRT2545922	hsa-miR-4420	CLIP-seq
MIRT2545923	hsa-miR-4422	CLIP-seq
MIRT2009959	hsa-miR-4426	CLIP-seq
MIRT2545924	hsa-miR-4446-5p	CLIP-seq
MIRT2545925	hsa-miR-4450	CLIP-seq
MIRT2009960	hsa-miR-4647	CLIP-seq
MIRT2009961	hsa-miR-4662b	CLIP-seq
MIRT2545926	hsa-miR-4684-5p	CLIP-seq
MIRT1045312	hsa-miR-4689	CLIP-seq
MIRT2545927	hsa-miR-4755-5p	CLIP-seq
MIRT2545928	hsa-miR-4760-3p	CLIP-seq
MIRT2545929	hsa-miR-4793-5p	CLIP-seq
MIRT2545930	hsa-miR-548a-5p	CLIP-seq
MIRT2545931	hsa-miR-548ab	CLIP-seq
MIRT2545932	hsa-miR-548ak	CLIP-seq
MIRT2545933	hsa-miR-548b-5p	CLIP-seq
MIRT2545934	hsa-miR-548c-5p	CLIP-seq
MIRT2545935	hsa-miR-548d-5p	CLIP-seq
MIRT2545936	hsa-miR-548h	CLIP-seq
MIRT2545937	hsa-miR-548i	CLIP-seq
MIRT2545938	hsa-miR-548j	CLIP-seq
MIRT2545939	hsa-miR-548k	CLIP-seq
MIRT2545940	hsa-miR-548l	CLIP-seq
MIRT2545941	hsa-miR-548w	CLIP-seq
MIRT2545942	hsa-miR-548y	CLIP-seq
MIRT2545943	hsa-miR-559	CLIP-seq
MIRT1045318	hsa-miR-573	CLIP-seq
MIRT2545944	hsa-miR-623	CLIP-seq
MIRT2009968	hsa-miR-629	CLIP-seq
MIRT2429566	hsa-miR-659	CLIP-seq
MIRT1045321	hsa-miR-889	CLIP-seq
MIRT2545945	hsa-miR-942	CLIP-seq
MIRT1045293	hsa-miR-1185	CLIP-seq
MIRT1045294	hsa-miR-1224-5p	CLIP-seq
MIRT2545912	hsa-miR-1228	CLIP-seq
MIRT2545913	hsa-miR-1236	CLIP-seq
MIRT2545914	hsa-miR-1267	CLIP-seq
MIRT2545915	hsa-miR-204	CLIP-seq
MIRT2545916	hsa-miR-211	CLIP-seq
MIRT2009953	hsa-miR-2110	CLIP-seq
MIRT2545917	hsa-miR-217	CLIP-seq
MIRT2009956	hsa-miR-3150a-3p	CLIP-seq
MIRT1045299	hsa-miR-3605-5p	CLIP-seq
MIRT1045300	hsa-miR-3616-5p	CLIP-seq
MIRT1045301	hsa-miR-3647-5p	CLIP-seq
MIRT2009958	hsa-miR-3658	CLIP-seq
MIRT1045303	hsa-miR-3679-5p	CLIP-seq
MIRT2545918	hsa-miR-377	CLIP-seq
MIRT1045304	hsa-miR-3915	CLIP-seq
MIRT2545919	hsa-miR-3974	CLIP-seq
MIRT2545920	hsa-miR-412	CLIP-seq
MIRT1045305	hsa-miR-4272	CLIP-seq
MIRT2545922	hsa-miR-4420	CLIP-seq
MIRT2545923	hsa-miR-4422	CLIP-seq
MIRT2009959	hsa-miR-4426	CLIP-seq
MIRT2545924	hsa-miR-4446-5p	CLIP-seq
MIRT2545925	hsa-miR-4450	CLIP-seq
MIRT2009960	hsa-miR-4647	CLIP-seq
MIRT2009961	hsa-miR-4662b	CLIP-seq
MIRT2545926	hsa-miR-4684-5p	CLIP-seq
MIRT1045312	hsa-miR-4689	CLIP-seq
MIRT2545927	hsa-miR-4755-5p	CLIP-seq
MIRT2545928	hsa-miR-4760-3p	CLIP-seq
MIRT2545929	hsa-miR-4793-5p	CLIP-seq
MIRT2545930	hsa-miR-548a-5p	CLIP-seq
MIRT2545931	hsa-miR-548ab	CLIP-seq
MIRT2545932	hsa-miR-548ak	CLIP-seq
MIRT2545933	hsa-miR-548b-5p	CLIP-seq
MIRT2545934	hsa-miR-548c-5p	CLIP-seq
MIRT2545935	hsa-miR-548d-5p	CLIP-seq
MIRT2545936	hsa-miR-548h	CLIP-seq
MIRT2545937	hsa-miR-548i	CLIP-seq
MIRT2545938	hsa-miR-548j	CLIP-seq
MIRT2545939	hsa-miR-548k	CLIP-seq
MIRT2545940	hsa-miR-548l	CLIP-seq
MIRT2545941	hsa-miR-548w	CLIP-seq
MIRT2545942	hsa-miR-548y	CLIP-seq
MIRT2545943	hsa-miR-559	CLIP-seq
MIRT1045318	hsa-miR-573	CLIP-seq
MIRT2545944	hsa-miR-623	CLIP-seq
MIRT2009968	hsa-miR-629	CLIP-seq
MIRT2429566	hsa-miR-659	CLIP-seq
MIRT1045321	hsa-miR-889	CLIP-seq
MIRT2545945	hsa-miR-942	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006574	Process	L-valine catabolic process	IBA
GO:0006574	Process	L-valine catabolic process	IDA	16466957
GO:0006574	Process	L-valine catabolic process	IEA
GO:0008442	Function	3-hydroxyisobutyrate dehydrogenase activity	IBA
GO:0008442	Function	3-hydroxyisobutyrate dehydrogenase activity	IDA	16466957
GO:0008442	Function	3-hydroxyisobutyrate dehydrogenase activity	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0050661	Function	NADP binding	IEA
GO:0051287	Function	NAD binding	IEA

MIM	HGNC	e!Ensembl
608475	4907	ENSG00000106049

P31937

Protein name

3-hydroxyisobutyrate dehydrogenase, mitochondrial (HIBADH) (EC 1.1.1.31)

PDB

2GF2 , 2I9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03446	NAD_binding_2	41 → 200	NAD binding domain of 6-phosphogluconate dehydrogenase	Domain
PF14833	NAD_binding_11	203 → 330	NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in skin fibroblasts. {ECO:0000269|PubMed:16466957}.

Sequence

MAASLRLLGAASGLRYWSRRLRPAAGSFAAVCSRSVASKTPVGFIGLGNMGNPMAKNLMK
HGYPLIIYDVFPDACKEFQDAGEQVVSSPADVAEKADRIITMLPTSINAIEAYSGANGIL
KKVKKGSLLIDSSTIDPAVSKELAKEVEKMGAVFMDAPVSGGVGAARSGNLTFMVGGVED
EFAAAQELLGCMGSNVVYCGAVGTGQAAKICNNMLLAISMIGTAEAMNLGIRLGLDPKLL
AKILNMSSGRCWSSDTYNPVPGVMDGVPSANNYQGGFGTTLMAKDLGLAQDSATSTKSPI
LLGSLAHQIYRMMCAKGYSKKDFSSVFQFLREEETF

Sequence length

336

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Metabolic pathways		Branched-chain amino acid catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
3-HYDROXYISOBUTYRIC ACIDURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIBADH-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24455749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26474449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	26474449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HIBADH (3-hydroxyisobutyrate dehydrogenase)