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 1.1.1.31 4 54
  • Epididymis Secretory Sperm Binding Protein 3
  • 3'-Hydroxyisobutyrate Dehydrogenase 3
  • EC 1.1.1 54
  • 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 Valine, leucine and isoleucine degradation and Amino Acid metabolism. 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

Additional gene information 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 for HIBADH Gene

Promoters and enhancers for HIBADH Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 762.3 +0.1 98 3.3 FOXK2 ZNF785 SIN3A SP1 MLX FOXA1 POLR2A NR2F6 ATF1 FOS HIBADH lnc-JAZF1-1 EIF4HP1 HOXA7 HOXA3 LOC105375211
GH07J027736 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 19 -77.1 -77078 6.2 SIN3A ZBTB40 SP1 SMARCE1 POLR2A CREB1 HCFC1 MIXL1 MYC CC2D1A TAX1BP1 ENSG00000229893 LOC105375210 HIBADH LOC442292 piR-52261-252 piR-49423-245
GH07J027639 Enhancer 0.9 Ensembl ENCODE 30.5 +21.7 21732 3.5 SP1 PRDM1 RXRA SMARCC1 ZNF629 CEBPB REST CHD2 JUN JUND HIBADH LOC105375211 ENSG00000286478
GH07J027606 Enhancer 1.4 UCNEbase Ensembl ENCODE 16.4 +55.4 55399 4 CTCF ZBTB6 FOXA1 SMARCE1 CTBP1 NR2F6 HLF RAD21 SP1 ZNF384 HIBADH TAX1BP1 TSL piR-61945-451
GH07J027602 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 23.1 +60.2 60154 1.1 POU5F1 SP1 PRDM6 NANOG HIBADH ENSG00000253508 HOTTIP HOXA13 TSL piR-61945-451
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HIBADH Gene
chr7:27,525,440-27,663,001
(GRCh38/hg38)
Size:
137,562 bases
Orientation:
Minus strand
chr7:27,565,059-27,702,620
(GRCh37/hg19)
Size:
137,562 bases
Orientation:
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:
    P31937-3HIDH_HUMAN
    Recommended name:
    3-hydroxyisobutyrate dehydrogenase, mitochondrial
    Protein Accession:
    P31937
    Secondary Accessions:
    • Q546Z2
    • Q9UDN3

    Protein attributes for HIBADH Gene

    Size:
    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

P31937:
  • GGFGTTLMAKDL
  • KGYSKKDFSSVFQ
  • EFAAAQELLGCMGSNV
  • VSKELAKEVEKMGAVFMDAPVSGGVGAARSGNLTFMVGGV
  • DAPVSGG
  • SSGRCWSSD
  • YSGANGILKKVKKGSLLIDSSTIDP
  • CMGSNVVYCGAVGTGQ
  • AHQIYRMMC
  • VAEKADRIITMLP
  • IGLGNMG

Post-translational modifications for HIBADH Gene

  • Ubiquitination at Lys321
  • 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

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

P31937

UniProtKB/Swiss-Prot:

3HIDH_HUMAN :
  • Belongs to the HIBADH-related family. 3-hydroxyisobutyrate dehydrogenase subfamily.
Family:
  • 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=1.1.1.31; Evidence=. ;.

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:0008442 3-hydroxyisobutyrate dehydrogenase activity IDA,IEA 16466957
GO:0016491 oxidoreductase activity IEA --
GO:0050661 NADP binding 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:
  • Hibadh Hibadh<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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 2
peroxisome 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,IBA --
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 Approved Nutra Target 0
NAD Experimental Pharma Full agonist, Agonist, Activator 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-Hydroxyisobutyrate
  • (S)-3-Hydroxy-2-methylpropionate
2068-83-9
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
99043-16-0
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 3-oxo-2-Methylpropanoate
  • Methylmalonate semialdehyde
  • 3-oxo-2-Methylpropanoic acid
  • Methylmalonic acid semialdehyde
6236-08-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with HIBADH: view

Transcripts for HIBADH Gene

mRNA/cDNA for HIBADH Gene

CRISPR Products

Inhibitory RNA Products

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

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: - - -
SP6:

Relevant External Links for HIBADH Gene

GeneLoc Exon Structure for
HIBADH
ECgene alternative splicing isoforms for
HIBADH

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, 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:

HIBADH

SOURCE GeneReport for Unigene cluster for HIBADH Gene:

Hs.406758

mRNA Expression by UniProt/SwissProt for HIBADH Gene:

P31937-3HIDH_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia HIBADH 33 32
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HIBADH 33 32
  • 93.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HIBADH 33 32
  • 93.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hibadh 17 33 32
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Hibadh 32
  • 88.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HIBADH 33
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 78 (a)
OneToMany
-- 33
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves HIBADH 33 32
  • 80.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIBADH 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hibadh 32
  • 79.15 (n)
Str.4369 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 32
zebrafish
(Danio rerio)
Actinopterygii hibadha 33
  • 75 (a)
OneToMany
hibadhb 33 32
  • 74.01 (n)
OneToMany
zgc66262 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 32
  • 54.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15093 33 32
  • 51.98 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_B0250.5 32
  • 55.75 (n)
B0250.5 33
  • 54 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 32
  • 55.87 (n)
rice
(Oryza sativa)
Liliopsida Os06g0677400 32
  • 53.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1343 33
  • 63 (a)
OneToOne
Cin.8859 32
bread mold
(Neurospora crassa)
Ascomycetes NCU06559 32
  • 49.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8859 32
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

ENSEMBL:
Gene Tree for HIBADH (if available)
TreeFam:
Gene Tree for HIBADH (if available)
Aminode:
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 from dbSNP and Humsavar for HIBADH Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000005352 -- 27,634,790(-) G/A intron_variant
rs1000008043 -- 27,527,111(-) G/A intron_variant
rs1000012617 -- 27,567,362(-) C/T intron_variant
rs1000024495 -- 27,590,587(-) G/C intron_variant
rs1000027702 -- 27,647,641(-) T/C intron_variant

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
HIBADH

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
  • 3 hydroxyisobutyric aciduria
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIBADH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 56
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  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 43 56
  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 56
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 56

Products for HIBADH Gene

Sources for HIBADH Gene