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Aliases for HIBADH Gene

Aliases for HIBADH Gene

  • 3-Hydroxyisobutyrate Dehydrogenase 2 3 5
  • EC 4 58
  • 3-Hydroxyisobutyrate Dehydrogenase, Mitochondrial 3
  • EC 1.1.1 58
  • NS5ATP1 3

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 3-Hydroxyisobutyric Aciduria. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. 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

Additional gene information for HIBADH Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIBADH Gene

Genomics for HIBADH Gene

Regulatory Elements for HIBADH Gene

Enhancers for HIBADH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H027606 2.2 Ensembl ENCODE 16.4 +56.0 56027 2.7 PKNOX1 FOXA2 FEZF1 BRCA1 YY1 TSHZ1 ZNF488 REST SMARCB1 NFIL3 HIBADH TAX1BP1 TSL PIR36003
GH07H027639 1 Ensembl ENCODE 30.5 +21.9 21875 3.2 JUN MAX RAD21 YY1 SMC3 FOS CHD2 SMARCC1 CEBPB REST HIBADH LOC105375211 TSL
GH07H027602 1 FANTOM5 ENCODE dbSUPER 23.1 +60.2 60154 1.1 PRDM6 POU5F1 HIBADH HOTTIP HOXA13 ENSG00000253508 TSL PIR36003
GH07H027736 1.1 ENCODE 18.9 -76.4 -76409 4.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 HIBADH TAX1BP1 LOC442292 LOC105375210
GH07H027676 1.5 FANTOM5 Ensembl ENCODE 13.5 -15.3 -15313 3.4 HDAC1 TBP PKNOX1 ATF1 ZEB1 RARA RFX5 ZNF366 RCOR1 ATF7 HIBADH TAX1BP1 LOC105375210
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIBADH on UCSC Golden Path with GeneCards custom track

Promoters for HIBADH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for HIBADH Gene

Genomic Locations for HIBADH Gene
137,562 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 posLast=321321
  • Modification sites at PhosphoSitePlus

Other Protein References for HIBADH Gene

Domains & Families for HIBADH Gene

Gene Families for HIBADH Gene

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

Graphical View of Domain Structure for InterPro Entry



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

Function for HIBADH Gene

Molecular function for HIBADH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-hydroxy-2-methylpropanoate + NAD(+) = 2-methyl-3-oxopropanoate + NADH.

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:0004616 phosphogluconate dehydrogenase (decarboxylating) activity IEA --
GO:0008442 3-hydroxyisobutyrate dehydrogenase activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0051287 NAD 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:

Clone Products

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

Gene Ontology (GO) - Cellular Components for HIBADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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,IDA --
GO:0009083 branched-chain amino acid catabolic process 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 Nutra Target 0
NAD Pharma Full agonist, Agonist 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-Hydroxyisobutyric acid
  • 2-Methyl-L-(+)-Hydracrylate
  • 2-Methyl-L-(+)-Hydracrylic acid
  • 3-Hydroxy(iso)butyric acid
  • 3-Hydroxy-2-methyl-(S)-Propanoate
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 2-Methyl-3-oxopropanoic acid
  • 3-Oxo-2-methylpropanoate
  • 3-Oxo-2-methylpropanoic acid
  • Ch3-malonate-semialdehyde
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with HIBADH: view

Transcripts for HIBADH Gene

Unigene Clusters for HIBADH Gene

3-hydroxyisobutyrate dehydrogenase:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for

Expression for HIBADH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for HIBADH Gene

Protein tissue co-expression partners for HIBADH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIBADH Gene:


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(4.4)
  • Lung(4.2)
  • Kidney(2.9)
  • Nervous system(2.7)
  • Muscle(2)
genes like me logo Genes that share expression patterns with HIBADH: view

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 33 34
  • 99.8 (n)
(Canis familiaris)
Mammalia HIBADH 33 34
  • 93.31 (n)
(Bos Taurus)
Mammalia HIBADH 33 34
  • 93.15 (n)
(Mus musculus)
Mammalia Hibadh 33 16 34
  • 88.96 (n)
(Rattus norvegicus)
Mammalia Hibadh 33
  • 88.96 (n)
(Ornithorhynchus anatinus)
Mammalia HIBADH 34
  • 86 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
-- 34
  • 70 (a)
(Gallus gallus)
Aves HIBADH 33 34
  • 80.28 (n)
(Anolis carolinensis)
Reptilia HIBADH 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hibadh 33
  • 79.15 (n)
Str.4369 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 33
(Danio rerio)
Actinopterygii hibadha 34
  • 75 (a)
hibadhb 33 34
  • 74.01 (n)
zgc66262 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 33
  • 54.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15093 33 34
  • 51.98 (n)
(Caenorhabditis elegans)
Secernentea CELE_B0250.5 33
  • 55.75 (n)
B0250.5 34
  • 54 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 33
  • 55.87 (n)
(Oryza sativa)
Liliopsida Os06g0677400 33
  • 53.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1343 34
  • 63 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06559 33
  • 49.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8859 33
Species where no ortholog for HIBADH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for HIBADH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000005352 -- 27,634,790(+) TCTAA(A/G)GATGT intron-variant
rs1000008043 -- 27,527,111(+) AACAA(A/G)AGGGA intron-variant
rs1000012617 -- 27,567,362(+) TTAAT(C/T)TACCT intron-variant
rs1000024495 -- 27,590,587(+) TTGAA(C/G)ATTTT intron-variant
rs1000027702 -- 27,647,641(+) AAGCC(C/T)TATTC intron-variant, upstream-variant-2KB

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)

Relevant External Links for HIBADH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for HIBADH Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIBADH Gene - From: GeneCards

Disorder Aliases PubMed IDs
3-hydroxyisobutyric aciduria
  • disorder of valine metabolism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HIBADH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 45 60
  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 60
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60

Products for HIBADH Gene

Sources for HIBADH Gene

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