2. Gene
  3. HIBADH - 3-hydroxyisobutyrate dehydrogenase Gene

HIBADH - 3-hydroxyisobutyrate dehydrogenase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NS5ATP1

Gene ID: 11112 | Gene type: protein coding

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 Reference 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 Reference 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_2: NAD binding domain of 6-phosphogluconate dehydrogenase (40 - 200)

NAD_binding_11

NAD_binding_11: NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase (203 - 330)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06163 HIBADH Human Pre-designed siRNA Set A Pre-designed Sets / 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