Seroatlas · Human Serome Atlas

BCAT1

Branched-chain-amino-acid aminotransferase, cytosolic

Also known as: BCAT1_HUMAN, BCATc, BCT1

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

Protein identityUniProt · HPA

UniProt accession
P54687
Gene
BCAT1
Ensembl
ENSG00000060982
Chromosome
12
Canonical length
386 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

386 residues, UniProt reviewed canonical sequence.

>P54687|BCAT1
     1  MKDCSNGCSA ECTGEGGSKE VVGTFKAKDL IVTPATILKE KPDPNNLVFG TVFTDHMLTV
    61  EWSSEFGWEK PHIKPLQNLS LHPGSSALHY AVELFEGLKA FRGVDNKIRL FQPNLNMDRM
   121  YRSAVRATLP VFDKEELLEC IQQLVKLDQE WVPYSTSASL YIRPTFIGTE PSLGVKKPTK
   181  ALLFVLLSPV GPYFSSGTFN PVSLWANPKY VRAWKGGTGD CKMGGNYGSS LFAQCEAVDN
   241  GCQQVLWLYG EDHQITEVGT MNLFLYWINE DGEEELATPP LDGIILPGVT RRCILDLAHQ
   301  WGEFKVSERY LTMDDLTTAL EGNRVREMFG SGTACVVCPV SDILYKGETI HIPTMENGPK
   361  LASRILSKLT DIQYGREESD WTIVLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCAT1 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
55 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 55 nTPM
  • placenta: 14 nTPM
  • retina: 13 nTPM
  • lung: 9.1 nTPM
  • midbrain: 8.5 nTPM
  • ovary: 8.2 nTPM

Single-cell type

  • pancreatic acinar cells: 545 nCPM
  • late spermatids: 541 nCPM
  • retinal bipolar cells: 458 nCPM
  • cdc: 346 nCPM
  • retinal pigment epithelial cells: 328 nCPM
  • macrophages: 268 nCPM

Immune cell

  • non-classical monocyte: 17 nTPM
  • myeloid DC: 5.8 nTPM
  • intermediate monocyte: 3.6 nTPM
  • plasmacytoid DC: 3.5 nTPM
  • classical monocyte: 2.3 nTPM
  • memory B-cell: 1.1 nTPM

Brain region

  • pons: 62 nTPM
  • hypothalamus: 57 nTPM
  • midbrain: 57 nTPM
  • medulla oblongata: 48 nTPM
  • thalamus: 45 nTPM
  • cerebral cortex: 43 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)
1.02
gnomAD pLI
0
gnomAD missense Z
-0.22
DepMap mean gene effect
-0.02
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BCAT1 as an antibody target. Whether an autoantibody or antibody against BCAT1 could matter depends on whether native BCAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BCAT1 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 BCAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BCAT1. 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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