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] See more...

Aliases for HIBADH Gene

Aliases for HIBADH Gene

  • 3-Hydroxyisobutyrate Dehydrogenase 2 3 5
  • 3-Hydroxyisobutyrate Dehydrogenase, Mitochondrial 3 4
  • EC 4 51
  • NS5ATP1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • 3'-Hydroxyisobutyrate Dehydrogenase 3
  • EC 1.1.1 51
  • HIBADH 5

External Ids for HIBADH Gene

Previous GeneCards Identifiers for HIBADH Gene

  • GC07U990151
  • GC07M027207
  • GC07M027273
  • GC07M027308
  • GC07M027307
  • GC07M027338
  • GC07M027531
  • GC07M027565
  • GC07M027445

Summaries for HIBADH Gene

Entrez Gene Summary for HIBADH Gene

  • 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]

GeneCards Summary for HIBADH Gene

HIBADH (3-Hydroxyisobutyrate Dehydrogenase) is a Protein Coding gene. Diseases associated with HIBADH include Childhood Apraxia Of Speech and Pleomorphic Xanthoastrocytoma. Among its related pathways are Valine, leucine and isoleucine degradation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include NAD binding and 3-hydroxyisobutyrate dehydrogenase activity. An important paralog of this gene is GLYR1.

Gene Wiki entry for HIBADH Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIBADH Gene

Genomics for HIBADH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HIBADH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J027661 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.4 0.0 0 3.3 TBP SP1 FEZF1 CEBPA NR2C1 FOXA1 MNT IKZF1 SMAD5 HES1 HIBADH lnc-JAZF1-1 EIF4HP1 HOXA7 HOXA3 EVX1
GH07J027736 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 19 -76.8 -76776 5.4 TBP ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 IRF2 MBD2 TAX1BP1 TAX1BP1-AS1 HIBADH ENSG00000235574 piR-52261-252 JAZF1
GH07J027639 Enhancer 0.7 ENCODE 30.5 +21.8 21776 3.2 CEBPB MAX EP300 RXRA RAD21 SMC3 STAT3 PRDM6 JUND MAFF HIBADH HSALNG0056903 ENSG00000286478 EVX1
GH07J027606 Enhancer 1.2 UCNEbase ENCODE 16.4 +55.9 55929 2.7 FEZF1 CEBPA BRCA1 CTCF CEBPB FOXA2 EP300 ZNF341 RXRA RAD21 HIBADH TAX1BP1 LOC107986699 piR-61945-451 ENSG00000224322 EVX1
GH07J027602 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 23.1 +60.1 60056 1.1 YY1 PRDM6 SP1 POU5F1 NANOG HIBADH ENSG00000253508 HOTTIP HOXA13 LOC107986699 piR-61945-451 ENSG00000224322 EVX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIBADH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIBADH

Top Transcription factor binding sites by QIAGEN in the HIBADH gene promoter:
  • aMEF-2
  • c-Myc
  • FOXO4
  • Max1
  • MEF-2A
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • TBP

Genomic Locations for HIBADH Gene

Latest Assembly
137,464 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
137,442 bases
Minus strand

(GRCh37/hg19 by Ensembl)
137,554 bases
Minus strand

Genomic View for HIBADH Gene

Genes around HIBADH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIBADH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIBADH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIBADH Gene

Proteins for HIBADH Gene

  • Protein details for HIBADH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-hydroxyisobutyrate dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q546Z2
    • Q9UDN3

    Protein attributes for HIBADH Gene

    336 amino acids
    Molecular mass:
    35329 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HIBADH Gene

neXtProt entry for HIBADH Gene

Selected DME Specific Peptides for HIBADH Gene


Post-translational modifications for HIBADH Gene

  • Ubiquitination at Lys321
  • Modification sites at PhosphoSitePlus

Other Protein References for HIBADH Gene

Antibodies for research

  • Abcam antibodies for HIBADH
  • Boster Bio Antibodies for HIBADH
  • Santa Cruz Biotechnology (SCBT) Antibodies for HIBADH

Domains & Families for HIBADH Gene

Gene Families for HIBADH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HIBADH Gene

  • 3-hydroxyisobutyrate dehydrogenase
  • 3-hydroxyisobutyrate dehydrogenase

Suggested Antigen Peptide Sequences for HIBADH Gene

GenScript: Design optimal peptide antigens:
  • 3-hydroxyisobutyrate dehydrogenase, mitochondrial (3HIDH_HUMAN)
  • cDNA, FLJ96784, Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA (Q546Z2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily.
  • Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily.
genes like me logo Genes that share domains with HIBADH: view

Function for HIBADH Gene

Molecular function for HIBADH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-hydroxy-2-methylpropanoate + NAD(+) = 2-methyl-3-oxopropanoate + H(+) + NADH; Xref=Rhea:RHEA:17681, ChEBI:CHEBI:11805, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57700, ChEBI:CHEBI:57945; EC=; Evidence={ECO:0000269|PubMed:16466957};.

Enzyme Numbers (IUBMB) for HIBADH Gene

Phenotypes From GWAS Catalog for HIBADH Gene

Gene Ontology (GO) - Molecular Function for HIBADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008442 3-hydroxyisobutyrate dehydrogenase activity IEA,IDA 16466957
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
GO:0050661 NADP binding IEA --
genes like me logo Genes that share ontologies with HIBADH: view
genes like me logo Genes that share phenotypes with HIBADH: view

Animal Models for HIBADH Gene

MGI Knock Outs for HIBADH:
  • Hibadh Hibadh<tm1b(EUCOMM)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIBADH

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIBADH Gene

Localization for HIBADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIBADH Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIBADH gene
Compartment Confidence
mitochondrion 5
nucleus 3
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HIBADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with HIBADH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIBADH Gene

Pathways & Interactions for HIBADH Gene

genes like me logo Genes that share pathways with HIBADH: view

Pathways by source for HIBADH Gene

1 BioSystems pathway for HIBADH Gene

UniProtKB/Swiss-Prot P31937-3HIDH_HUMAN

  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for HIBADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006574 valine catabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process IEA,TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HIBADH: view

No data available for SIGNOR curated interactions for HIBADH Gene

Drugs & Compounds for HIBADH Gene

(3) Drugs for HIBADH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
NAD Experimental Pharma 0

(6) Additional Compounds for HIBADH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxy-2-methylpropanoic acid
  • (S)-3-Hydroxy-2-methylpropionic acid
  • (S)-3-Hydroxy-2-methylpropanoate
  • (S)-3-Hydroxy-2-methylpropionate
  • (S)-3-Hydroxyisobutyrate
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 3-oxo-2-Methylpropanoate
  • Methylmalonate semialdehyde
  • 3-oxo-2-Methylpropanoic acid
  • Methylmalonic acid semialdehyde
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with HIBADH: view

Transcripts for HIBADH Gene


12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIBADH

Alternative Splicing Database (ASD) splice patterns (SP) for HIBADH Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - -
SP2: - - -
SP3: - - - - -
SP4: -
SP5: - - -

Relevant External Links for HIBADH Gene

GeneLoc Exon Structure for

Expression for HIBADH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIBADH Gene

Protein differential expression in normal tissues from HIPED for HIBADH Gene

This gene is overexpressed in Liver, secretome (6.3) and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIBADH Gene

Protein tissue co-expression partners for HIBADH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIBADH

SOURCE GeneReport for Unigene cluster for HIBADH Gene:


mRNA Expression by UniProt/SwissProt for HIBADH Gene:

Tissue specificity: Detected in skin fibroblasts.

Evidence on tissue expression from TISSUES for HIBADH Gene

  • Liver(4.5)
  • Lung(4.2)
  • Kidney(3.2)
  • Nervous system(3.1)
  • Heart(2.8)
  • Skin(2.5)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with HIBADH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIBADH Gene

Orthologs for HIBADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIBADH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HIBADH 30 31
  • 99.8 (n)
(Canis familiaris)
Mammalia HIBADH 30 31
  • 93.31 (n)
(Bos Taurus)
Mammalia HIBADH 30 31
  • 93.15 (n)
(Mus musculus)
Mammalia Hibadh 30 17 31
  • 88.96 (n)
(Rattus norvegicus)
Mammalia Hibadh 30
  • 88.96 (n)
(Ornithorhynchus anatinus)
Mammalia HIBADH 31
  • 86 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
-- 31
  • 70 (a)
(Gallus gallus)
Aves HIBADH 30 31
  • 80.28 (n)
(Anolis carolinensis)
Reptilia HIBADH 31
  • 80 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hibadh 30
  • 79.15 (n)
Str.4369 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 30
(Danio rerio)
Actinopterygii hibadha 31
  • 75 (a)
hibadhb 30 31
  • 74.01 (n)
zgc66262 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 30
  • 54.79 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG15093 30 31
  • 51.98 (n)
(Caenorhabditis elegans)
Secernentea CELE_B0250.5 30
  • 55.75 (n)
B0250.5 31
  • 54 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 30
  • 55.87 (n)
(Oryza sativa)
Liliopsida Os06g0677400 30
  • 53.87 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1343 31
  • 63 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06559 30
  • 49.82 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8859 30
Species where no ortholog for HIBADH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HIBADH Gene

Gene Tree for HIBADH (if available)
Gene Tree for HIBADH (if available)
Evolutionary constrained regions (ECRs) for HIBADH: view image

Paralogs for HIBADH Gene

Paralogs for HIBADH Gene

genes like me logo Genes that share paralogs with HIBADH: view

Variants for HIBADH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIBADH Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1583560904 Uncertain Significance: not provided 27,543,002(-) T/TG
NM_152740.4(HIBADH):c.582dup (p.Asn195fs)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HIBADH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HIBADH Gene

Variant ID Type Subtype PubMed ID
esv3304802 CNV mobile element insertion 20981092
esv3332096 CNV insertion 20981092
esv3612660 CNV loss 21293372
esv3612662 CNV loss 21293372
nsv1128306 CNV deletion 24896259
nsv1145128 CNV deletion 24896259
nsv7393 OTHER inversion 18451855
nsv830930 CNV loss 17160897

Variation tolerance for HIBADH Gene

Residual Variation Intolerance Score: 22.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIBADH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIBADH Gene

Disorders for HIBADH Gene

MalaCards: The human disease database

(6) MalaCards diseases for HIBADH Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
childhood apraxia of speech
  • articulatory apraxia
pleomorphic xanthoastrocytoma
  • pleomorphic xantho-astrocytoma
3-hydroxyisobutyric aciduria
  • 3 hydroxyisobutyric aciduria
maple syrup urine disease
  • msud
acrofrontofacionasal dysostosis
  • affn dysostosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIBADH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HIBADH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIBADH Gene

Publications for HIBADH Gene

  1. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. (PMID: 16466957) Loupatty FJ … Wanders RJ (Molecular genetics and metabolism 2006) 3 4 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4

Products for HIBADH Gene

Sources for HIBADH Gene