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Hibch Gene Detail
Summary
  • Symbol
    Hibch
  • Name
    3-hydroxyisobutyryl-Coenzyme A hydrolase
  • Synonyms
    2610509I15Rik, HIBYL-COA-H
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923792
    NCBI Gene: 227095
Location & Maps
more
  • Sequence Map
    Chr1:52844929-52920986 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      76058 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 26.99 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    HIBCH, 3-hydroxyisobutyryl-CoA hydrolase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HIBCH, 3-hydroxyisobutyryl-CoA hydrolase
    Orthology source: HomoloGene
  • Synonyms
    HIBYLCOAH
  • Links
    NCBI Gene ID: 26275
    neXtProt AC: NX_Q6NVY1

  • Chr Location
    2q32.2; chr2:190204634-190320045 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5607
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: HIBCH
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human HIBCH associations

Human Disease Mouse Models
       3-hydroxyisobutyryl-Coa Hydrolase Deficiency; HIBCHD   OMIM: 250620
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    13
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Hibch
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030558 VEGA Gene Model | MGI Sequence Detail 76058 C57BL/6J ±  kb
transcript OTTMUST00000075675 VEGA | MGI Sequence Detail 1830 Not Applicable  
polypeptide OTTMUSP00000039724 VEGA | MGI Sequence Detail 385 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    625 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000008550 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
  • EC
  • InterPro Domains
    IPR029045 ClpP/crotonase-like domain
    IPR014748 Crontonase, C-terminal
    IPR032259 Enoyl-CoA hydratase/isomerase, HIBYL-CoA-H type
Molecular
Reagents
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  • All nucleic 42
    cDNA 42

    Microarray probesets 4
Other
Accession IDs
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MGI:2138314
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:204566 Gendrel AV, et al., Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Mol Cell Biol. 2013 Aug;33(16):3150-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory