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Aliases for HIBADH Gene

Aliases for HIBADH Gene

  • 3-Hydroxyisobutyrate Dehydrogenase 2 3
  • EC 1.1.1.31 4 63
  • EC 1.1.1 63
  • 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 CDK-mediated phosphorylation and removal of Cdc6. 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 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

Genomic Location for HIBADH Gene

Chromosome:
7
Start:
27,525,440 bp from pter
End:
27,663,001 bp from pter
Size:
137,562 bases
Orientation:
Minus strand

Genomic View for HIBADH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HIBADH Gene at MOPED

Post-translational modifications for HIBADH Gene

  • Ubiquitination at Lys 321
  • Modification sites at PhosphoSitePlus

Other Protein References for HIBADH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for HIBADH Gene

Graphical View of Domain Structure for InterPro Entry

P31937

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for HIBADH Gene

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

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 TAS --
GO:0016491 oxidoreductase activity --
GO:0051287 NAD binding IEA --
genes like me logo Genes that share ontologies with HIBADH: view

Phenotypes for HIBADH Gene

GenomeRNAi human phenotypes for HIBADH:
genes like me logo Genes that share phenotypes with HIBADH: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HIBADH

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , 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
Jensen Localization Image for HIBADH Gene COMPARTMENTS Subcellular localization image for HIBADH gene
Compartment Confidence
mitochondrion 5
nucleus 3

Gene Ontology (GO) - Cellular Components for HIBADH Gene

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

Pathways & Interactions for HIBADH Gene

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

Pathways by source for HIBADH Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic 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: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra Target 0
NAD Pharma Agonist, Activator 0
valine Nutra 18

(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
2068-83-9
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
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
6236-08-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
3-hydroxyisobutyrate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HIBADH

Flow Cytometry 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 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, MOPED, and MaxQB for HIBADH Gene



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.
genes like me logo Genes that share expression patterns with HIBADH: view

Protein tissue co-expression partners for HIBADH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia HIBADH 35
  • 93.15 (n)
  • 96.13 (a)
HIBADH 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIBADH 35
  • 93.31 (n)
  • 97.84 (a)
HIBADH 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hibadh 35
  • 88.96 (n)
  • 91.34 (a)
Hibadh 16
Hibadh 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HIBADH 35
  • 99.8 (n)
  • 100 (a)
HIBADH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hibadh 35
  • 88.96 (n)
  • 91.34 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HIBADH 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIBADH 35
  • 80.28 (n)
  • 84.38 (a)
HIBADH 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIBADH 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hibadh 35
  • 79.15 (n)
  • 87.95 (a)
Str.4369 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 35
zebrafish
(Danio rerio)
Actinopterygii hibadhb 35
  • 74.01 (n)
  • 81.91 (a)
zgc66262 35
hibadha 36
  • 75 (a)
OneToMany
hibadhb 36
  • 76 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 35
  • 54.79 (n)
  • 52.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15093 35
  • 51.98 (n)
  • 48.12 (a)
CG15093 36
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_B0250.5 35
  • 55.75 (n)
  • 54.95 (a)
B0250.5 36
  • 54 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 35
  • 55.87 (n)
  • 51.22 (a)
rice
(Oryza sativa)
Liliopsida Os06g0677400 35
  • 53.87 (n)
  • 48.39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8859 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06559 35
  • 49.82 (n)
  • 45.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1343 36
  • 63 (a)
OneToOne
Species with no ortholog for HIBADH:
  • 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)

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 MAF
rs723699 -- 27,589,857(-) CTCCA(A/G)TGTAG intron-variant
rs723700 -- 27,589,582(-) TTAAT(A/G)TCTCT intron-variant
rs759269 -- 27,552,728(+) GAATA(C/T)TAATC intron-variant
rs759270 -- 27,606,842(+) CACTT(G/T)GGATA intron-variant
rs759271 -- 27,607,494(+) GCAGA(C/G)CAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv830930 CNV Loss 17160897
esv269080 CNV Insertion 20981092

Variation tolerance for HIBADH Gene

Residual Variation Intolerance Score: 22.84% 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

HapMap Linkage Disequilibrium report
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
  • disorder of valine metabolism
- elite association

Relevant External Links for HIBADH

Genetic Association Database (GAD)
HIBADH
Human Genome Epidemiology (HuGE) Navigator
HIBADH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIBADH
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. Proteomic profiling of non-obese type 2 diabetic skeletal muscle. (PMID: 20127051) Mullen E. … Ohlendieck K. (Int. J. Mol. Med. 2010) 23 67
  2. [Cloning of silkworm 3-hydroxyisobutyrate dehydrogenase gene and its expression patterns analysis in simulated weightless environment]. (PMID: 19306573) Tian Z. … Shang P. (Sheng Wu Gong Cheng Xue Bao 2008) 23 67
  3. Identification of mammalian mitochondrial proteins that interact with IAPs via N-terminal IAP binding motifs. (PMID: 16794601) Verhagen A.M. … Vaux D.L. (Cell Death Differ. 2007) 23 67
  4. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. (PMID: 16466957) Loupatty F.J. … Wanders R.J. (Mol. Genet. Metab. 2006) 23 67
  5. Coordinated expression of valine catabolic enzymes during adipogenesis: analysis of activity, mRNA, protein levels, and metabolic consequences. (PMID: 7527207) Kedishvili N.Y. … Harris R.A. (Arch. Biochem. Biophys. 1994) 23 67

Products for HIBADH Gene

Sources for HIBADH Gene

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