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Aliases for HIBADH Gene

Aliases for HIBADH Gene

  • 3-Hydroxyisobutyrate Dehydrogenase 2 3 5
  • EC 1.1.1.31 4 61
  • 3-Hydroxyisobutyrate Dehydrogenase, Mitochondrial 3
  • EC 1.1.1 61
  • 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 Viral mRNA Translation. 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 , 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
GH07G027606 2.2 Ensembl ENCODE 16.4 +56.0 56027 2.7 PKNOX1 FOXA2 FEZF1 BRCA1 YY1 GATA2 FOS TSHZ1 ZNF488 MYNN HIBADH TAX1BP1 TSL PIR36003
GH07G027639 1.1 Ensembl ENCODE 30.5 +21.9 21875 3.2 SOX13 JUN MAX RAD21 YY1 RARA GATA2 SMC3 NR2F6 FOS HIBADH LOC105375211 TSL
GH07G027602 1.1 FANTOM5 ENCODE dbSUPER 23.1 +60.2 60154 1.1 ZNF263 PRDM6 PBX2 POU5F1 CHD7 YY1 HIBADH ENSG00000253508 HOXA13 HOTTIP TSL PIR36003
GH07G027697 1 Ensembl ENCODE 20.8 -35.3 -35272 1.6 BCOR ESRRA ZMYM3 MAX RBBP5 EBF1 ZBTB40 FOSL1 ZNF316 FOS HIBADH TAX1BP1 LOC105375210
GH07G027736 1.1 ENCODE 18.9 -76.4 -76409 4.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 HIBADH TAX1BP1 LOC442292 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
ENSR00000209906 301 2201 HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1

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

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 isoforms=321
  • Modification sites at PhosphoSitePlus

Other Protein References for HIBADH Gene

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 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for HIBADH

CRISPR Products

Inhibitory RNA Products

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 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

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 IDA,IEA --
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
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
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:

CRISPR Products

Inhibitory RNA Products

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, 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:

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

Primer Products

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 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia HIBADH 34 35
  • 93.31 (n)
cow
(Bos Taurus)
Mammalia HIBADH 34 35
  • 93.15 (n)
mouse
(Mus musculus)
Mammalia Hibadh 34 16 35
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Hibadh 34
  • 88.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HIBADH 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves HIBADH 34 35
  • 80.28 (n)
lizard
(Anolis carolinensis)
Reptilia HIBADH 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hibadh 34
  • 79.15 (n)
Str.4369 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3733 34
zebrafish
(Danio rerio)
Actinopterygii hibadha 35
  • 75 (a)
OneToMany
hibadhb 34 35
  • 74.01 (n)
zgc66262 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8687 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005581 34
  • 54.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15093 34 35
  • 51.98 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_B0250.5 34
  • 55.75 (n)
B0250.5 35
  • 54 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20930 34
  • 55.87 (n)
rice
(Oryza sativa)
Liliopsida Os06g0677400 34
  • 53.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1343 35
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06559 34
  • 49.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8859 34
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)

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
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 - COSMIC cancer census association via MalaCards

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. 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 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. 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 46 64
  4. 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 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for HIBADH Gene

Sources for HIBADH Gene

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