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HIBADH - 3-hydroxyisobutyrate dehydrogenase Gene

Also Known as NS5ATP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11112

About HIBADH

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:27,525,442-27,662,883 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 59.3), adrenal (RPKM 50.9) and 24 other tissues.

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, Nov 2011]

HIBADH Products (1)

mRNA	Protein	Name
NM_152740.4	NP_689953.1	3-hydroxyisobutyrate dehydrogenase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 3-hydroxyisobutyrate dehydrogenase activity	IDA IDA: Inferred from direct assay	16466957	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in valine catabolic process	IDA IDA: Inferred from direct assay	16466957	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIBADH Protein Structure

NAD_binding_2

NAD_binding_11

0
100
200
300
336 a.a.

Protein Preferred Names	Protein Names
3-hydroxyisobutyrate dehydrogenase, mitochondrial	3'-hydroxyisobutyrate dehydrogenase

HIBADH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HIBADH	P31937	ADAM33	Homo sapiens	Q08AM2	Validated Y2H	32296183
Intra	HIBADH	P31937	RTP2	Homo sapiens	Q5QGT7	Validated Y2H	32296183
Intra	HIBADH	P31937	ERMP1	Homo sapiens	Q7Z2K6	Validated Y2H	32296183
Intra	HIBADH	P31937	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
Intra	HIBADH	P31937	AIG1	Homo sapiens	Q9NVV5-2	Validated Y2H	32296183
Intra	HIBADH	P31937	SNORC	Homo sapiens	Q6UX34	Validated Y2H	32296183
Intra	HIBADH	P31937	NDUFB11	Homo sapiens	Q9NX14	Validated Y2H	32296183
Intra	HIBADH	P31937	CNIH2	Homo sapiens	Q6PI25	Validated Y2H	32296183
Intra	HIBADH	P31937	TM6SF2	Homo sapiens	Q9BZW4	Validated Y2H	32296183
Intra	HIBADH	P31937	PTCH1	Homo sapiens	Q13635-3	Validated Y2H	32296183
Intra	HIBADH	P31937	PPGB	Homo sapiens	Q59EV6	Validated Y2H	32296183
Intra	HIBADH	P31937	SCARB2	Homo sapiens	Q14108	Validated Y2H	32296183
Intra	HIBADH	P31937	CLEC2A	Homo sapiens	Q6UVW9	Validated Y2H	32296183
Intra	HIBADH	P31937	AMELY	Homo sapiens	Q99218-1	Validated Y2H	32296183
Intra	HIBADH	P31937	EFNA5	Homo sapiens	P52803	Validated Y2H	32296183
Intra	HIBADH	P31937	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	HIBADH	P31937	CMTM7	Homo sapiens	Q96FZ5	Validated Y2H	32296183
Intra	HIBADH	P31937	AQP3	Homo sapiens	Q92482	Validated Y2H	32296183
Intra	HIBADH	P31937	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
Intra	HIBADH	P31937	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	HIBADH	P31937	TMEM222	Homo sapiens	Q9H0R3	Validated Y2H	32296183
Intra	HIBADH	P31937	VAMP2	Homo sapiens	P63027	Validated Y2H	32296183
Intra	HIBADH	P31937	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	HIBADH	P31937	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Interstitial Myocarditis
Athabaskan Brainstem Dysgenesis Syndrome	Bosley-Salih-Alorainy Syndrome Navajo Brainstem Syndrome ABDS Human Hoxa1 Syndromes BSAS Athabaskan Brainstem Dysgenesis Bosley Salih Alorainy Syndrome Absd Athabascan Brainstem Dysgenesis Syndrome Narvajo Brainstem Syndrome
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Guttmacher Syndrome Preaxial Deficiency, Postaxial Polydactyly And Hypospadias Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome GUTTS
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06163	HIBADH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HIBADH	MGD	MGI:1889802
Rattus norvegicus	HIBADH	RGD	RGD:708399
Felis catus	HIBADH	VGNC	VGNC:67570
Canis familiaris	HIBADH	VGNC	VGNC:99776
Macaca mulatta	HIBADH	VGNC	VGNC:73378
Bos taurus	HIBADH	VGNC	VGNC:29844
Others	HIBADH	NCBI