3-hydroxyisobutyryl-CoA hydrolase

Summary
Gene Symbol
  • HIBCH
Organism
Homo sapiens (human)
External Links
NCBI Gene
26275
HGNC
4908
KEGG Gene ID
hsa:26275
PubChem
26275
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Branched-chain amino acid catabolism
  • Disease variant
  • Hydrolase
  • Mitochondrion
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
Q6NVY1
  • 3-hydroxyisobutyryl-coenzyme A hydrolase
A0A140VJL0
  • 3-hydroxyisobutyryl-coenzyme A hydrolase
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
valine catabolic process
branched-chain amino acid catabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000198130

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K05605
Name
3-hydroxyisobutyryl-CoA hydrolase [EC:3.1.2.4]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 35 in total
DO ID Disease Name Source
DOID:0050562 West syndrome
DOID:0050835 generalized dystonia
DOID:0050841 focal hand dystonia
DOID:0080199 colorectal carcinoma
DOID:10908 hydrocephalus
DOID:11383 cryptorchidism
DOID:11771 spontaneous ocular nystagmus
DOID:11832 visual epilepsy
DOID:1289 neurodegenerative disease
DOID:13174 dissociated nystagmus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000286 Epicanthus
HP:0000486 Strabismus
HP:0000639 Nystagmus
HP:0000737 Irritability
HP:0000925 Abnormality of the vertebral column
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:88639
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
OMIM:250620
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP004216
Gene Name
3-hydroxyisobutyryl-CoA hydrolase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024