Seroatlas · Human Serome Atlas

GCAT

2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial

Also known as: KBL, KBL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75600
Gene
GCAT
Ensembl
ENSG00000100116
Chromosome
22
Canonical length
419 aa
Protein class
Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear speckles,Mitochondria

OverviewNCBI Gene

The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

419 residues, UniProt reviewed canonical sequence.

>O75600|GCAT
     1  MWPGNAWRAA LFWVPRGRRA QSALAQLRGI LEGELEGIRG AGTWKSERVI TSRQGPHIRV
    61  DGVSGGILNF CANNYLGLSS HPEVIQAGLQ ALEEFGAGLS SVRFICGTQS IHKNLEAKIA
   121  RFHQREDAIL YPSCYDANAG LFEALLTPED AVLSDELNHA SIIDGIRLCK AHKYRYRHLD
   181  MADLEAKLQE AQKHRLRLVA TDGAFSMDGD IAPLQEICCL ASRYGALVFM DECHATGFLG
   241  PTGRGTDELL GVMDQVTIIN STLGKALGGA SGGYTTGPGP LVSLLRQRAR PYLFSNSLPP
   301  AVVGCASKAL DLLMGSNTIV QSMAAKTQRF RSKMEAAGFT ISGASHPICP VMLGDARLAS
   361  RMADDMLKRG IFVIGFSYPV VPKGKARIRV QISAVHSEED IDRCVEAFVE VGRLHGALP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GCAT 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)
0.26
Highest tissue expression
132 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 132 nTPM
  • liver: 53 nTPM
  • heart muscle: 41 nTPM
  • midbrain: 25 nTPM
  • cerebral cortex: 25 nTPM
  • amygdala: 23 nTPM

Single-cell type

  • oocytes: 212 nCPM
  • esophageal apical cells: 151 nCPM
  • pancreatic acinar cells: 75 nCPM
  • hepatocytes: 74 nCPM
  • breast lactating cells: 56 nCPM
  • syncytiotrophoblasts: 54 nCPM

Immune cell

  • naive CD4 T-cell: 3.5 nTPM
  • T-reg: 1.7 nTPM
  • memory CD4 T-cell: 1.6 nTPM
  • naive CD8 T-cell: 1.4 nTPM
  • total PBMC: 1.4 nTPM
  • myeloid DC: 1.3 nTPM

Brain region

  • thalamus: 27 nTPM
  • pons: 27 nTPM
  • midbrain: 26 nTPM
  • cerebellum: 23 nTPM
  • hippocampal formation: 22 nTPM
  • medulla oblongata: 22 nTPM

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)
1.24
gnomAD pLI
0
gnomAD missense Z
-0.16
DepMap mean gene effect
-0.16
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

GCAT 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 GCAT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GCAT. 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).

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