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Aliases for HIBCH Gene

Aliases for HIBCH Gene

  • 3-Hydroxyisobutyryl-CoA Hydrolase 2 3
  • 3-Hydroxyisobutyryl-Coenzyme A Hydrolase 2 3 4
  • HIB-CoA Hydrolase 3 4
  • HIBYL-CoA-H 3 4
  • EC 4 63
  • 3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial 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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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



  • Q6NVY1
  • 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

Gene Ontology (GO) - Molecular Function for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003860 3-hydroxyisobutyryl-CoA hydrolase activity IDA 8824301
genes like me logo Genes that share ontologies with HIBCH: view

Phenotypes for HIBCH Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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
mitochondrion 4
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HIBCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HIBCH: view

Pathways for HIBCH Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays


  • 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 --
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 HIBCH: view

Compounds for HIBCH Gene

(9) HMDB Compounds for HIBCH Gene

Compound Synonyms Cas Number PubMed IDs
(S)-3-Hydroxyisobutyric acid
  • (S)-3-Hydroxyisobutyric acid
  • 3-Hydroxy-2-methylpropanoyl-CoA
  • 3-Hydroxypropionyl coenzyme A
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure

(1) Drugbank Compounds for HIBCH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
117-39-5 target
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with HIBCH: view

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 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
(Pan troglodytes)
Mammalia HIBCH 35
  • 99.65 (n)
  • 99.74 (a)
  • 100 (a)
(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)
(Monodelphis domestica)
Mammalia HIBCH 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia HIBCH 36
  • 61 (a)
(Rattus norvegicus)
Mammalia Hibch 35
  • 82.09 (n)
  • 79.39 (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)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004097 35
  • 51.68 (n)
  • 53.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5044 35
  • 53.14 (n)
  • 53.82 (a)
CG5044 36
  • 50 (a)
CG5044 37
  • 49 (a)
(Caenorhabditis elegans)
Secernentea F09F7.4 35
  • 53.92 (n)
  • 49.31 (a)
F09F7.4 36
  • 46 (a)
F09F7.4a 37
  • 45 (a)
F09F7.4b 37
  • 46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR024C 35
  • 46.88 (n)
  • 39.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EHD3 35
  • 47.22 (n)
  • 37.07 (a)
EHD3 36
  • 26 (a)
EHD3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F18678g 35
  • 46.81 (n)
  • 35.26 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30660 35
  • 51.34 (n)
  • 43.03 (a)
(Oryza sativa)
Liliopsida Os12g0264500 35
  • 50.19 (n)
  • 44.15 (a)
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 intestinalis)
Ascidiacea Cin.5474 35
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 MAF
rs11542 -- 190,204,963(+) ATGAA(A/T)TATTA utr-variant-3-prime
rs167093 -- 190,313,665(+) aaaaa(A/G)gaatc intron-variant
rs176712 -- 190,259,556(+) gtttc(A/G)ccata intron-variant
rs188339 -- 190,294,506(+) CTAGT(A/G)GGGGG intron-variant
rs210038 -- 190,317,873(+) GGCTG(G/T)AGTGC 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

Relevant External Links for HIBCH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for HIBCH Gene

(1) OMIM Diseases for HIBCH Gene (610690)


  • HIBCH deficiency (HIBCHD) [MIM:250620]: The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life. {ECO:0000269 PubMed:17160907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for HIBCH Gene

Relevant External Links for HIBCH

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

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
  2. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. (PMID: 17160907) Loupatty F.J. … Wanders R.J.A. (Am. J. Hum. Genet. 2007) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3
  5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PMID: 21890473) Wagner S.A. … Choudhary C. (Mol. Cell Proteomics 2011) 3

Products for HIBCH Gene

Sources for HIBCH Gene

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