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Aliases for HIBCH Gene

Aliases for HIBCH Gene

  • 3-Hydroxyisobutyryl-CoA Hydrolase 2 3 5
  • 3-Hydroxyisobutyryl-Coenzyme A Hydrolase 2 3 4
  • HIB-CoA Hydrolase 3 4
  • HIBYL-CoA-H 3 4
  • EC 4 63
  • Testicular Tissue Protein Li 86 3

External Ids for HIBCH Gene

Previous GeneCards Identifiers for HIBCH Gene

  • GC02M189263
  • GC02M189772
  • GC02M191033
  • GC02M191272
  • GC02M191271
  • GC02M190894
  • GC02M190777
  • GC02M191054
  • GC02M182929

Summaries for HIBCH Gene

Entrez Gene Summary for HIBCH Gene

  • This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneCards Summary for HIBCH Gene

HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase) is a Protein Coding gene. Diseases associated with HIBCH include 3-Hydroxyisobutryl-Coa Hydrolase Deficiency and Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency. Among its related pathways are Carbon metabolism and Metabolism. GO annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity.

UniProtKB/Swiss-Prot for HIBCH Gene

  • Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIBCH Gene

Genomics for HIBCH Gene

Regulatory Elements for HIBCH Gene

Enhancers for HIBCH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HIBCH on UCSC Golden Path with GeneCards custom track

Genomic Location for HIBCH Gene

190,189,735 bp from pter
190,344,193 bp from pter
154,459 bases
Minus strand

Genomic View for HIBCH Gene

Genes around HIBCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIBCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIBCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIBCH Gene

Proteins for HIBCH Gene

  • Protein details for HIBCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • D3DPI4
    • Q53GA8
    • Q53GF2
    • Q53RF7
    • Q53TC6
    • Q92931
    • Q9BS94

    Protein attributes for HIBCH Gene

    386 amino acids
    Molecular mass:
    43482 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC52114.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIBCH Gene

    Alternative splice isoforms for HIBCH Gene


neXtProt entry for HIBCH Gene

Proteomics data for HIBCH Gene at MOPED

Selected DME Specific Peptides for HIBCH Gene

Post-translational modifications for HIBCH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HIBCH Gene

Protein Domains for HIBCH Gene

Suggested Antigen Peptide Sequences for HIBCH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the enoyl-CoA hydratase/isomerase family.
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with HIBCH: view

No data available for Gene Families for HIBCH Gene

Function for HIBCH Gene

Molecular function for HIBCH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate.
UniProtKB/Swiss-Prot Function:
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.

Enzyme Numbers (IUBMB) for HIBCH Gene

genes like me logo Genes that share phenotypes with HIBCH: view

Human Phenotype Ontology for HIBCH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HIBCH

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HIBCH Gene

Localization for HIBCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIBCH Gene


Subcellular locations from

Jensen Localization Image for HIBCH Gene COMPARTMENTS Subcellular localization image for HIBCH gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 2
cytosol 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HIBCH Gene

Pathways & Interactions for HIBCH Gene

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


  • Pathway: Amino-acid degradation; L-valine degradation.

Gene Ontology (GO) - Biological Process for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006574 valine catabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with HIBCH: view

No data available for SIGNOR curated interactions for HIBCH Gene

Drugs & Compounds for HIBCH Gene

(3) Drugs for HIBCH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Quercetin Experimental Nutra Target Antitumor agent, Non-selective PI 3-kinase inhibitor 36
Coenzyme A Nutra 0

(8) Additional Compounds for HIBCH Gene - From: HMDB

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)-3-Hydroxyisobutyryl-CoA
  • (S)-3-Hydroxyisobutyryl-Coenzyme A
  • 3-Hydroxy-2-methylpropanoyl-CoA
  • 3-Hydroxy-2-methylpropanoyl-Coenzyme A
  • 3-Hydroxy-2-methylpropionyl-CoA
  • 3-Hydroxypropanoyl coenzymeA
  • 3-Hydroxypropanoyl-CoA
  • 3-Hydroxypropanoyl-Coenzyme A
  • 3-Hydroxypropionyl coenzyme A
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydroxypropionic acid
  • 2-Deoxyglycerate
  • 2-Deoxyglyceric acid
  • 3-Hydroxypropanoate
  • 3-Hydroxypropanoic acid
  • 3-Hydroxypropionate
genes like me logo Genes that share compounds with HIBCH: view

Transcripts for HIBCH Gene

Unigene Clusters for HIBCH Gene

3-hydroxyisobutyryl-CoA hydrolase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HIBCH Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17
SP1: - - - - - -
SP2: - - - -

Relevant External Links for HIBCH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HIBCH Gene

mRNA expression in normal human tissues for HIBCH Gene

Protein differential expression in normal tissues from HIPED for HIBCH Gene

This gene is overexpressed in Kidney (10.3) and Adrenal (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HIBCH Gene

SOURCE GeneReport for Unigene cluster for HIBCH Gene Hs.656685

mRNA Expression by UniProt/SwissProt for HIBCH Gene

Tissue specificity: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.
genes like me logo Genes that share expression patterns with HIBCH: view

Protein tissue co-expression partners for HIBCH Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HIBCH Gene

Orthologs for HIBCH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIBCH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HIBCH 35
  • 88.43 (n)
  • 84.46 (a)
  • 75 (a)
(Canis familiaris)
Mammalia HIBCH 35
  • 90.23 (n)
  • 89.27 (a)
  • 85 (a)
(Mus musculus)
Mammalia Hibch 35
  • 84.16 (n)
  • 82.08 (a)
Hibch 16
Hibch 36
  • 82 (a)
(Pan troglodytes)
Mammalia HIBCH 35
  • 99.65 (n)
  • 99.74 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Hibch 35
  • 82.09 (n)
  • 79.39 (a)
(Monodelphis domestica)
Mammalia HIBCH 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia HIBCH 36
  • 61 (a)
(Gallus gallus)
Aves HIBCH 35
  • 72.71 (n)
  • 70.67 (a)
  • 68 (a)
(Anolis carolinensis)
Reptilia HIBCH 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hibch 35
  • 68.27 (n)
  • 69.6 (a)
Str.19147 35
(Danio rerio)
Actinopterygii hibch 35
  • 63.46 (n)
  • 66.58 (a)
hibch 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5044 37
  • 49 (a)
CG5044 35
  • 53.14 (n)
  • 53.82 (a)
CG5044 36
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004097 35
  • 51.68 (n)
  • 53.89 (a)
(Caenorhabditis elegans)
Secernentea F09F7.4a 37
  • 45 (a)
F09F7.4b 37
  • 46 (a)
F09F7.4 35
  • 53.92 (n)
  • 49.31 (a)
F09F7.4 36
  • 46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR024C 35
  • 46.88 (n)
  • 39.03 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18678g 35
  • 46.81 (n)
  • 35.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EHD3 35
  • 47.22 (n)
  • 37.07 (a)
EHD3 36
  • 26 (a)
EHD3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30660 35
  • 51.34 (n)
  • 43.03 (a)
(Oryza sativa)
Liliopsida Os12g0264500 35
  • 50.19 (n)
  • 44.15 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5474 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03777 35
  • 47.29 (n)
  • 43.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.09 35
  • 48.97 (n)
  • 38.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5609 36
  • 52 (a)
Species with no ortholog for HIBCH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 HIBCH Gene

Gene Tree for HIBCH (if available)
Gene Tree for HIBCH (if available)

Paralogs for HIBCH Gene Pseudogenes for HIBCH Gene

genes like me logo Genes that share paralogs with HIBCH: view

No data available for Paralogs for HIBCH Gene

Variants for HIBCH Gene

Sequence variations from dbSNP and Humsavar for HIBCH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1058180 - 190,296,896(-) GTTGC(A/G)CGGGA nc-transcript-variant, reference, missense
VAR_031870 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD)
rs713425 -- 190,251,082(+) ACATA(A/C)AAGAG intron-variant
rs713426 -- 190,251,105(+) AAATC(C/T)GGCAA intron-variant
rs713427 -- 190,251,121(+) AAAAA(C/T)ATAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875619 CNV Gain 21882294
nsv875620 CNV Loss 21882294
nsv875621 CNV Gain 21882294

Variation tolerance for HIBCH Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.31; 88.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIBCH Gene

Human Gene Mutation Database (HGMD)

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

Disorders for HIBCH Gene

MalaCards: The human disease database

(5) MalaCards diseases for HIBCH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-hydroxyisobutryl-coa hydrolase deficiency
  • 3-hydroxyisobutyryl-coa hydrolase
neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency
  • hibch deficiency
pyruvate dehydrogenase e1-alpha deficiency
  • pyruvate decarboxylase deficiency
spinocerebellar ataxia 5
  • spinocerebellar ataxia type 5
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards
Search HIBCH in MalaCards View complete list of genes associated with diseases


  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. {ECO:0000269 PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HIBCH

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 HIBCH: view

No data available for Genatlas for HIBCH Gene

Publications for HIBCH Gene

  1. Primary structure and tissue-specific expression of human beta- hydroxyisobutyryl-coenzyme A hydrolase. (PMID: 8824301) Hawes J.W. … Harris R.A. (J. Biol. Chem. 1996) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  5. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. (PMID: 24299452) Ferdinandusse S. … Rahman S. (Orphanet J Rare Dis 2013) 3

Products for HIBCH Gene

Sources for HIBCH Gene