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-ketobut... See more...

Aliases for GCAT Gene

Aliases for GCAT Gene

  • Glycine C-Acetyltransferase 2 3 5
  • KBL 2 3 4
  • 2-Amino-3-Ketobutyrate Coenzyme A Ligase, Mitochondrial 3 4
  • Glycine Acetyltransferase 3 4
  • Aminoacetone Synthase 3 4
  • EC 2.3.1.29 4 51
  • AKB Ligase 3 4
  • Glycine C-Acetyltransferase (2-Amino-3-Ketobutyrate Coenzyme A Ligase) 2
  • 2-Amino-3-Ketobutyrate Coenzyme A Ligase 2
  • 2-Amino-3-Ketobutyrate-CoA Ligase 3
  • EC 2.3.1 51
  • GCAT 5

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. Diseases associated with GCAT include Phosphoserine Aminotransferase Deficiency and Palmoplantar Keratoderma And Congenital Alopecia 2. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine C-acetyltransferase activity. An important paralog of this gene is ALAS1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GCAT Gene

Genomics for GCAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GCAT Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GCAT

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

Genomic Locations for GCAT Gene

Genomic Locations for GCAT Gene
chr22:37,807,894-37,817,177
(GRCh38/hg38)
Size:
9,284 bases
Orientation:
Plus strand
chr22:38,203,912-38,213,183
(GRCh37/hg19)
Size:
9,272 bases
Orientation:
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:
    O75600-KBL_HUMAN
    Recommended name:
    2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial
    Protein Accession:
    O75600
    Secondary Accessions:
    • E2QC23
    • Q6ZWF1
    • Q96CA9

    Protein attributes for GCAT Gene

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

    Alternative splice isoforms for GCAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCAT Gene

Selected DME Specific Peptides for GCAT Gene

O75600:
  • TLGKALGGASGGYT
  • LNHASIIDG
  • RPYLFSNSL
  • NFCANNYLGL
  • PVMLGDA
  • SDELNHAS
  • YPVVPKG

Post-translational modifications for GCAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GCAT Gene

Gene Families for GCAT Gene

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

Protein Domains for GCAT Gene

Suggested Antigen Peptide Sequences for GCAT Gene

GenScript: Design optimal peptide antigens:
  • Glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) (E2QC24_HUMAN)
  • Glycine acetyltransferase (KBL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75600

UniProtKB/Swiss-Prot:

KBL_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
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:
Reaction=acetyl-CoA + glycine = (2S)-2-amino-3-oxobutanoate + CoA; Xref=Rhea:RHEA:20736, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57305, ChEBI:CHEBI:78948; EC=2.3.1.29;.
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:0003824 catalytic activity IEA --
GO:0008890 glycine C-acetyltransferase activity 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

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

COMPARTMENTS
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
plasma membrane 2
extracellular 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
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 IEA,IDA --
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: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 Agonist, Full agonist, Target, substrate 196
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
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
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
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

mRNA/cDNA for GCAT Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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
GCAT

Expression for GCAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GCAT

SOURCE GeneReport for Unigene cluster for GCAT Gene:

Hs.54609

mRNA Expression by UniProt/SwissProt for GCAT Gene:

O75600-KBL_HUMAN
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(4.6)
  • Skin(4.4)
  • Liver(4.4)
  • Lung(4.4)
  • Muscle(2.3)
  • Pancreas(2.3)
  • Kidney(2.2)
  • Heart(2.2)
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
Chimpanzee
(Pan troglodytes)
Mammalia GCAT 30 31
  • 99.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GCAT 30 31
  • 89.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GCAT 30 31
  • 89.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gcat 30 17 31
  • 86.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gcat 30
  • 86.62 (n)
Oppossum
(Monodelphis domestica)
Mammalia GCAT 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GCAT 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 83 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia GCAT 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gcat 30
  • 72.33 (n)
MGC76130 30
African clawed frog
(Xenopus laevis)
Amphibia gcat-prov 30
Zebrafish
(Danio rerio)
Actinopterygii gcat 30 31
  • 67.75 (n)
OneToOne
Dr.2301 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12208 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10361 30 31 32
  • 64.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005781 30
  • 63.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea T25B9.1 30 31 32
  • 57.31 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 31
  • 22 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons BIOF 30
  • 43.81 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0736400 30
  • 45.06 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2005 30
Species where no ortholog for GCAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for GCAT (if available)
TreeFam:
Gene Tree for GCAT (if available)
Aminode:
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:

  • KBL_HUMAN
  • C9IZC9_HUMAN
  • F2Z340_HUMAN
  • H7BZ75_HUMAN

Pseudogenes.org Pseudogenes for GCAT Gene

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

Variants for GCAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GCAT Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs34468367 - p.Ser100Asn
rs710187 - p.Arg39Cys

Additional dbSNP identifiers (rs#s) for GCAT Gene

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
GCAT

SNP Genotyping and Copy Number Assay Products

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

Disorders for GCAT Gene

MalaCards: The human disease database

(3) MalaCards diseases for GCAT Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search GCAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GCAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GCAT: view

No data available for 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 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  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 23
  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) 23 26
  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

Products for GCAT Gene

  • Signalway Proteins for GCAT

Sources for GCAT Gene