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Aliases for GCAT Gene

Aliases for GCAT Gene

  • Glycine C-Acetyltransferase 2 3 5
  • Glycine Acetyltransferase 3 4
  • Aminoacetone Synthase 3 4
  • AKB Ligase 3 4
  • KBL 3 4
  • Glycine C-Acetyltransferase (2-Amino-3-Ketobutyrate Coenzyme A Ligase) 2
  • 2-Amino-3-Ketobutyrate Coenzyme A Ligase, Mitochondrial 3
  • 2-Amino-3-Ketobutyrate Coenzyme A Ligase 2
  • 2-Amino-3-Ketobutyrate-CoA Ligase 3
  • EC 4

External Ids for GCAT Gene

Previous GeneCards Identifiers for GCAT Gene

  • GC22P034818
  • GC22P036446
  • GC22P036528
  • GC22P038203
  • GC22P021170

Summaries for GCAT Gene

Entrez Gene Summary for GCAT 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]

GeneCards Summary for GCAT Gene

GCAT (Glycine C-Acetyltransferase) is a Protein Coding gene. Among its related pathways are Metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine C-acetyltransferase activity. An important paralog of this gene is ALAS2.

Additional gene information for GCAT Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCAT Gene

Genomics for GCAT Gene

GeneHancer (GH) Regulatory Elements for GCAT Gene

Promoters and enhancers for GCAT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J037801 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.9 -2.4 -2370 7.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GCAT H1F0 GALR3 GGA1 DDX17 ANKRD54 EIF3L MIR659 CSNK1E PLA2G6
GH22J037809 Enhancer 0.6 ENCODE 650.7 +1.4 1400 0 PAF1 TFAP4 FOXA2 RXRA SAP130 ARID4B SP1 HNF4A NR2F6 GCAT GGA1 ANKRD54 EIF3L MIR659 GALR3 GC22M043015
GH22J037745 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.4 -57.2 -57185 10.9 HDGF PKNOX1 FOXA2 SIN3A FEZF1 YY1 GLIS2 ZNF207 FOS RUNX3 TRIOBP H1F0 GCAT GGA1 LGALS2 PICK1 LGALS1 ANKRD54 POLR2F CDC42EP1
GH22J037672 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -132.3 -132341 6.7 HDGF ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF766 ZNF213 LGALS1 GC22M043045 GC22P037676 GC22P037677 NOL12 GGA1 SH3BP1 LOC101927051 DDX17 H1F0
GH22J037558 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.3 -242.4 -242378 13.7 MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 ZNF610 GLIS1 CDC42EP1 LGALS2 GGA1 ANKRD54 EIF3L IFT27 DDX17 TRIOBP GCAT H1F0
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCAT gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • Pax-4a
  • Pax-5
  • GATA-2
  • ZID
  • Pax-6
  • CREB
  • deltaCREB
  • Lmo2

Genomic Locations for GCAT Gene

Genomic Locations for GCAT Gene
9,428 bases
Plus strand
9,272 bases
Plus strand

Genomic View for GCAT Gene

Genes around GCAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCAT Gene

Proteins for GCAT Gene

  • Protein details for GCAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • E2QC23
    • Q6ZWF1
    • Q96CA9

    Protein attributes for GCAT Gene

    419 amino acids
    Molecular mass:
    45285 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    No Data Available
    • Sequence=BAC85552.1; Type=Frameshift; Positions=232; Evidence={ECO:0000305};

    Alternative splice isoforms for GCAT Gene


neXtProt entry for GCAT Gene

Post-translational modifications for GCAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GCAT Gene

Domains & Families for GCAT Gene

Gene Families for GCAT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GCAT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with GCAT: view

Function for GCAT Gene

Molecular function for GCAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate.
GENATLAS Biochemistry:
glycine C-acetyltransferase,mitochondrial

Enzyme Numbers (IUBMB) for GCAT Gene

Phenotypes From GWAS Catalog for GCAT Gene

Gene Ontology (GO) - Molecular Function for GCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008890 glycine C-acetyltransferase activity IEA,NAS 10712613
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with GCAT: view
genes like me logo Genes that share phenotypes with GCAT: view

Animal Model Products

CRISPR Products

miRNA for GCAT Gene

miRTarBase miRNAs that target GCAT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCAT

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GCAT Gene

Localization for GCAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCAT Gene

Mitochondrion. Nucleus. Note=Translocates to the nucleus upon cold and osmotic stress.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCAT gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with GCAT: view

Pathways & Interactions for GCAT Gene

genes like me logo Genes that share pathways with GCAT: view

Pathways by source for GCAT Gene

UniProtKB/Swiss-Prot O75600-KBL_HUMAN

  • Pathway: Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine: step 2/2.

Gene Ontology (GO) - Biological Process for GCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process NAS 10712613
GO:0006567 threonine catabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009058 biosynthetic process IEA --
GO:0019518 L-threonine catabolic process to glycine TAS --
genes like me logo Genes that share ontologies with GCAT: view

No data available for SIGNOR curated interactions for GCAT Gene

Drugs & Compounds for GCAT Gene

(9) Drugs for GCAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 254
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 17
2-Amino-3-Ketobutyric Acid Experimental Pharma Target 0
Coenzyme A Investigational Nutra 0

(4) Additional Compounds for GCAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
L-2-Amino-3-oxobutanoic acid
  • (S)-2-amino-3-Oxobutanoic acid
  • 2-amino-3-KETOBUTYRIC ACID
  • L-2-amino-3-Oxobutanoate
  • L-2-amino-Acetoacetate
  • (S)-2-amino-3-Oxobutanoate
genes like me logo Genes that share compounds with GCAT: view

Transcripts for GCAT Gene

Unigene Clusters for GCAT Gene

Glycine C-acetyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCAT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCAT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: -

Relevant External Links for GCAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GCAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCAT Gene

This gene is overexpressed in Pancreas (x4.9).

Protein differential expression in normal tissues from HIPED for GCAT Gene

This gene is overexpressed in Bone (37.0), Liver (6.5), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GCAT Gene

NURSA nuclear receptor signaling pathways regulating expression of GCAT Gene:


SOURCE GeneReport for Unigene cluster for GCAT Gene:


mRNA Expression by UniProt/SwissProt for GCAT Gene:

Tissue specificity: Strongly expressed in heart, brain, liver and pancreas. Also found in lung.

Evidence on tissue expression from TISSUES for GCAT Gene

  • Nervous system(4.4)
  • Lung(4.3)
  • Liver(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GCAT: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GCAT Gene

Orthologs for GCAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCAT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GCAT 34 33
  • 99.2 (n)
(Canis familiaris)
Mammalia GCAT 34 33
  • 89.58 (n)
(Bos Taurus)
Mammalia GCAT 34 33
  • 89.42 (n)
(Mus musculus)
Mammalia Gcat 16 34 33
  • 86.86 (n)
(Rattus norvegicus)
Mammalia Gcat 33
  • 86.62 (n)
(Monodelphis domestica)
Mammalia GCAT 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia GCAT 34
  • 56 (a)
(Gallus gallus)
Aves -- 34
  • 83 (a)
-- 34
  • 79 (a)
(Anolis carolinensis)
Reptilia GCAT 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gcat 33
  • 72.33 (n)
MGC76130 33
African clawed frog
(Xenopus laevis)
Amphibia gcat-prov 33
(Danio rerio)
Actinopterygii gcat 34 33
  • 67.75 (n)
Dr.2301 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12208 33
fruit fly
(Drosophila melanogaster)
Insecta CG10361 34 35 33
  • 64.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005781 33
  • 63.44 (n)
(Caenorhabditis elegans)
Secernentea T25B9.1 34 35 33
  • 57.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 34
  • 22 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BIOF 33
  • 43.81 (n)
(Oryza sativa)
Liliopsida Os01g0736400 33
  • 45.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
Cin.2005 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2005 33
Species where no ortholog for GCAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCAT Gene

Gene Tree for GCAT (if available)
Gene Tree for GCAT (if available)
Evolutionary constrained regions (ECRs) for GCAT: view image

Paralogs for GCAT Gene

Paralogs for GCAT Gene

(2) SIMAP similar genes for GCAT Gene using alignment to 4 proteins:

  • F2Z340_HUMAN
  • H7BZ75_HUMAN Pseudogenes for GCAT Gene

genes like me logo Genes that share paralogs with GCAT: view

Variants for GCAT Gene

Sequence variations from dbSNP and Humsavar for GCAT Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000240010 -- 37,810,896(+) T/G intron_variant
rs1000345223 -- 37,807,542(+) A/G upstream_transcript_variant
rs1000725558 -- 37,807,967(+) G/A 5_prime_UTR_variant
rs1000766585 -- 37,813,720(+) A/G intron_variant
rs1000821512 -- 37,811,303(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GCAT Gene

Variant ID Type Subtype PubMed ID
esv2758838 CNV loss 17122850

Variation tolerance for GCAT Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.74; 73.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCAT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCAT Gene

Disorders for GCAT Gene

Additional Disease Information for GCAT

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GCAT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GCAT Gene

Publications for GCAT Gene

  1. Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs. (PMID: 10712613) Edgar AJ … Polak JM (European journal of biochemistry 2000) 3 4 22 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress. (PMID: 17688197) Hoshino A … Fujii H (Cell stress & chaperones 2007) 4 22 58
  4. Mechanism and substrate stereochemistry of 2-amino-3-oxobutyrate CoA ligase: implications for 5-aminolevulinate synthase and related enzymes. (PMID: 17146529) Bashir Q … Akhtar M (Chemical communications (Cambridge, England) 2006) 22 25 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GCAT Gene

Sources for GCAT Gene

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