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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
  • EC 2.3.1.29 4 63
  • 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 2
  • 2-Amino-3-Ketobutyrate-CoA Ligase 3
  • EC 2.3.1 63

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 Viral mRNA Translation and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and glycine C-acetyltransferase activity. An important paralog of this gene is ALAS2.

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

Genomics for GCAT Gene

Regulatory Elements for GCAT Gene

Enhancers for GCAT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCAT on UCSC Golden Path with GeneCards custom track

Genomic Location for GCAT Gene

Chromosome:
22
Start:
37,807,900 bp from pter
End:
37,817,327 bp from pter
Size:
9,428 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; Positions=232; Evidence={ECO:0000305};

    Alternative splice isoforms for GCAT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCAT Gene

Proteomics data for GCAT Gene at MOPED

Selected DME Specific Peptides for GCAT Gene

Post-translational modifications for GCAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCAT Gene

Domains & Families for GCAT Gene

Suggested Antigen Peptide Sequences for GCAT Gene

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

No data available for Gene Families for GCAT Gene

Function for GCAT Gene

Molecular function for GCAT Gene

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

Enzyme Numbers (IUBMB) for GCAT Gene

Gene Ontology (GO) - Molecular Function for GCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for GCAT Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for GCAT Gene COMPARTMENTS Subcellular localization image for GCAT gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for GCAT Gene

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:0009058 biosynthetic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 197
Pyridoxal Phosphate Nutra Target, cofactor 14
Coenzyme A Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
L-2-Amino-3-oxobutanoic acid
  • (2S)-2-amino-3-oxobutanoate
  • (2S)-2-amino-3-oxobutanoic acid
  • (S)-2-Amino-3-oxobutanoate
  • (S)-2-Amino-3-oxobutanoic acid
  • 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:

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
ECgene alternative splicing isoforms for
GCAT

Expression for GCAT Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GCAT Gene



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.
genes like me logo Genes that share expression patterns with GCAT: view

Primer Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GCAT 35
  • 89.42 (n)
  • 90.93 (a)
GCAT 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCAT 35
  • 89.58 (n)
  • 92.36 (a)
GCAT 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcat 35
  • 86.86 (n)
  • 91.35 (a)
Gcat 16
Gcat 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCAT 35
  • 99.2 (n)
  • 98.57 (a)
GCAT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcat 35
  • 86.62 (n)
  • 91.11 (a)
oppossum
(Monodelphis domestica)
Mammalia GCAT 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCAT 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 83 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GCAT 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcat 35
  • 72.33 (n)
  • 81.25 (a)
MGC76130 35
African clawed frog
(Xenopus laevis)
Amphibia gcat-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2301 35
gcat 35
  • 67.75 (n)
  • 73.93 (a)
gcat 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12208 35
fruit fly
(Drosophila melanogaster)
Insecta CG10361 37
  • 68 (a)
CG10361 35
  • 64.03 (n)
  • 66.91 (a)
CG10361 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005781 35
  • 63.44 (n)
  • 67.09 (a)
worm
(Caenorhabditis elegans)
Secernentea T25B9.1 37
  • 54 (a)
T25B9.1 35
  • 57.31 (n)
  • 64.3 (a)
T25B9.1 36
  • 58 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BIOF 35
  • 43.81 (n)
  • 35.93 (a)
rice
(Oryza sativa)
Liliopsida Os01g0736400 35
  • 45.06 (n)
  • 37.46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2005 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToOne
Species with no ortholog for GCAT:
  • 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

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

Paralogs for GCAT Gene

Paralogs for GCAT Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs710187 - 37,808,082(+) GCATC(A/C/G/T)GCGGA reference, missense, utr-variant-5-prime
rs34468367 - 37,810,129(+) CCTCA(A/G)CTCTG intron-variant, reference, missense
rs13911 -- 37,816,755(+) CGCCT(A/G)CTGCC intron-variant, utr-variant-3-prime
rs2246503 -- 37,808,533(+) AGCTG(A/C)AGGCA intron-variant
rs2269617 -- 37,817,095(+) CAAGG(C/T)AGGCG downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv4965n71 CNV Loss 21882294
nsv915035 CNV Loss 21882294
dgv1406e1 CNV Complex 17122850
dgv4966n71 CNV Loss 21882294
dgv4967n71 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GCAT Gene

Disorders for GCAT Gene

Relevant External Links for GCAT

Genetic Association Database (GAD)
GCAT
Human Genome Epidemiology (HuGE) Navigator
GCAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCAT

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 A.J. … Polak J.M. (Eur. J. Biochem. 2000) 3 4 23 67
  2. 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. (Chem. Commun. (Camb.) 2006) 23 25 26
  3. Three-dimensional structure of 2-amino-3-ketobutyrate CoA ligase from Escherichia coli complexed with a PLP-substrate intermediate: inferred reaction mechanism. (PMID: 11318637) Schmidt A. … Cygler M. (Biochemistry 2001) 23 25
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for GCAT Gene

Sources for GCAT Gene

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