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Aliases for HIBADH Gene

Aliases for HIBADH Gene

  • 3-Hydroxyisobutyrate Dehydrogenase 2 3
  • EC 1.1.1.31 4 64
  • 3-Hydroxyisobutyrate Dehydrogenase, Mitochondrial 3
  • EC 1.1.1 64
  • NS5ATP1 3

External Ids for HIBADH Gene

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 Metabolism. 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

Genomic Location for HIBADH Gene

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

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys321

Other Protein References for HIBADH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for HIBADH Gene

UniProtKB/Swiss-Prot:

3HIDH_HUMAN
Family:
  • Belongs to the 3-hydroxyisobutyrate dehydrogenase family.:
    • P31937
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:0051287 NAD binding IEA --
genes like me logo Genes that share ontologies with HIBADH: view

miRNA for HIBADH Gene

miRTarBase miRNAs that target HIBADH

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
peroxisome 2
nucleus 1

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 for HIBADH Gene

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

Pathways by source 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:0006098 pentose-phosphate shunt IEA --
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 --
genes like me logo Genes that share ontologies with HIBADH: view

Compounds for HIBADH Gene

(5) HMDB Compounds for HIBADH Gene

Compound Synonyms Cas Number PubMed IDs
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxyisobutyric acid
2068-83-9
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
6236-08-4
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(1) Drugbank Compounds for HIBADH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(3) Novoseek inferred chemical compound relationships for HIBADH Gene

Compound -log(P) Hits PubMed IDs
3-hydroxyisobutyrate 98.6 10
methylmalonate semialdehyde 95.3 4
valine 53.8 3
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with HIBADH: view

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 36
  • 99.8 (n)
  • 100 (a)
HIBADH 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIBADH 36
  • 93.15 (n)
  • 96.13 (a)
HIBADH 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIBADH 36
  • 93.31 (n)
  • 97.84 (a)
HIBADH 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hibadh 36
  • 88.96 (n)
  • 91.34 (a)
Hibadh 16
Hibadh 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HIBADH 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hibadh 36
  • 88.96 (n)
  • 91.34 (a)
chicken
(Gallus gallus)
Aves HIBADH 36
  • 80.28 (n)
  • 84.38 (a)
HIBADH 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIBADH 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hibadh 36
  • 79.15 (n)
  • 87.95 (a)
Str.4369 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 36
zebrafish
(Danio rerio)
Actinopterygii hibadha 37
  • 75 (a)
OneToMany
hibadhb 36
  • 74.01 (n)
  • 81.91 (a)
hibadhb 37
  • 76 (a)
OneToMany
zgc66262 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 36
  • 54.79 (n)
  • 52.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15093 36
  • 51.98 (n)
  • 48.12 (a)
CG15093 37
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0250.5 37
  • 54 (a)
OneToOne
CELE_B0250.5 36
  • 55.75 (n)
  • 54.95 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 36
  • 55.87 (n)
  • 51.22 (a)
rice
(Oryza sativa)
Liliopsida Os06g0677400 36
  • 53.87 (n)
  • 48.39 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06559 36
  • 49.82 (n)
  • 45.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8859 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1343 37
  • 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
rs42085 -- 27,658,320(+) TCAAC(A/C)AAATA intron-variant
rs42086 -- 27,659,556(+) caaaa(A/T)aaata intron-variant
rs42087 -- 27,660,863(+) AGGCA(C/T)GTATT intron-variant
rs42088 -- 27,662,242(+) CAGGT(A/G)GTTAA intron-variant
rs42089 -- 27,663,321(+) TTTTA(C/T)TTAAC upstream-variant-2KB

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

Relevant External Links for HIBADH Gene

HapMap Linkage Disequilibrium report
HIBADH

Disorders for HIBADH Gene

(1) University of Copenhagen DISEASES for HIBADH Gene

Relevant External Links for HIBADH

Genetic Association Database (GAD)
HIBADH
Human Genome Epidemiology (HuGE) Navigator
HIBADH
genes like me logo Genes that share disorders with HIBADH: view

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

Publications for HIBADH Gene

  1. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. (PMID: 16466957) Loupatty F.J. … Wanders R.J. (Mol. Genet. Metab. 2006) 3 4 23
  2. Human liver protein map: update 1993. (PMID: 8313870) Hughes G.J. … Hochstrasser D.F. (Electrophoresis 1993) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 49
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49

Products for HIBADH Gene

Sources for HIBADH Gene

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