Seroatlas · Human Serome Atlas

HIBCH

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial

Also known as: HIBCH_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6NVY1
Gene
HIBCH
Ensembl
ENSG00000198130
Chromosome
2
Canonical length
386 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

386 residues, UniProt reviewed canonical sequence.

>Q6NVY1|HIBCH
     1  MGQREMWRLM SRFNAFKRTN TILHHLRMSK HTDAAEEVLL EKKGCTGVIT LNRPKFLNAL
    61  TLNMIRQIYP QLKKWEQDPE TFLIIIKGAG GKAFCAGGDI RVISEAEKAK QKIAPVFFRE
   121  EYMLNNAVGS CQKPYVALIH GITMGGGVGL SVHGQFRVAT EKCLFAMPET AIGLFPDVGG
   181  GYFLPRLQGK LGYFLALTGF RLKGRDVYRA GIATHFVDSE KLAMLEEDLL ALKSPSKENI
   241  ASVLENYHTE SKIDRDKSFI LEEHMDKINS CFSANTVEEI IENLQQDGSS FALEQLKVIN
   301  KMSPTSLKIT LRQLMEGSSK TLQEVLTMEY RLSQACMRGH DFHEGVRAVL IDKDQSPKWK
   361  PADLKEVTEE DLNNHFKSLG SSDLKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HIBCH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
133 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 133 nTPM
  • liver: 120 nTPM
  • skin: 55 nTPM
  • adrenal gland: 55 nTPM
  • parathyroid gland: 55 nTPM
  • duodenum: 53 nTPM

Single-cell type

  • sertoli cells: 573 nCPM
  • pituitary stem cells: 445 nCPM
  • breast lactating cells: 369 nCPM
  • adrenal cortex cells: 351 nCPM
  • cone photoreceptor cells: 335 nCPM
  • adipocytes: 322 nCPM

Immune cell

  • memory B-cell: 44 nTPM
  • T-reg: 37 nTPM
  • naive B-cell: 35 nTPM
  • NK-cell: 32 nTPM
  • naive CD8 T-cell: 30 nTPM
  • basophil: 28 nTPM

Brain region

  • white matter: 137 nTPM
  • choroid plexus: 98 nTPM
  • basal ganglia: 92 nTPM
  • hypothalamus: 90 nTPM
  • spinal cord: 86 nTPM
  • medulla oblongata: 85 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HIBCH.

Disease | AllUniProt

Conditions HIBCH is implicated in, by any mechanism.

  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) MIM:250620

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 288 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • Inborn genetic diseases
  • See cases
  • Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
  • HIBCH-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.19
gnomAD pLI
0
gnomAD missense Z
0.29
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • 3-hydroxyisobutyryl-CoA hydrolase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HIBCH as an antibody target. Whether an autoantibody or antibody against HIBCH could matter depends on whether native HIBCH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HIBCH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HIBCH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HIBCH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...