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Aliases for GCAT Gene

Aliases for GCAT Gene

  • Glycine C-Acetyltransferase 2 3
  • KBL 3 4 6
  • Glycine Acetyltransferase 3 4
  • Aminoacetone Synthase 3 4
  • EC 2.3.1.29 4 63
  • AKB Ligase 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 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 Glycine, serine and threonine 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GCAT Gene

Start:
37,807,901 bp from pter
End:
37,817,326 bp from pter
Size:
9,426 bases
Orientation:
Plus strand

Genomic View for GCAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for GCAT Gene

Suggested Antigen Peptide Sequences for GCAT Gene

Graphical View of Domain Structure for InterPro Entry

O75600

UniProtKB/Swiss-Prot:

KBL_HUMAN :
  • O75600
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:0003824 catalytic activity --
GO:0008890 glycine C-acetyltransferase activity NAS 10712613
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with GCAT: view

Animal Model Products

CRISPR Products

miRNA for GCAT Gene

miRTarBase miRNAs that target GCAT

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for GCAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with GCAT: view

Pathways for GCAT Gene

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

Pathways by source for GCAT Gene

1 KEGG pathway for GCAT Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0008152 metabolic process --
GO:0009058 biosynthetic process IEA --
GO:0019518 L-threonine catabolic process to glycine IEA --
genes like me logo Genes that share ontologies with GCAT: view

Compounds for GCAT Gene

(5) HMDB Compounds for GCAT Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Glycine
  • 2-Aminoacetate
56-40-6
L-2-Amino-3-oxobutanoic acid
  • (2S)-2-amino-3-oxobutanoate
Not Available
Pyridoxal 5'-phosphate
  • Apolon B6
54-47-7

(2) Drugbank Compounds for GCAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycine
  • 2-Aminoacetic acid
56-40-6 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(7) Novoseek inferred chemical compound relationships for GCAT Gene

Compound -log(P) Hits PubMed IDs
2-amino-3-ketobutyrate 98.3 7
7-keto-8-aminopelargonic acid 95.4 2
pyridoxal 73.3 2
5-aminolevulinic acid 67.9 1
pyridoxal 5-phosphate 60.2 3
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GCAT

Primer Products

Flow Cytometry 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
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 (4.9).

Integrated Proteomics: protein expression 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 expressions with GCAT: view

In Situ Assay Products

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 35
  • 99.2 (n)
  • 98.57 (a)
GCAT 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia GCAT 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCAT 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcat 35
  • 86.62 (n)
  • 91.11 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 83 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GCAT 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gcat-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gcat 35
  • 72.33 (n)
  • 81.25 (a)
MGC76130 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12208 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2301 35
gcat 35
  • 67.75 (n)
  • 73.93 (a)
gcat 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005781 35
  • 63.44 (n)
  • 67.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10361 35
  • 64.03 (n)
  • 66.91 (a)
CG10361 36
  • 64 (a)
OneToOne
CG10361 37
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea T25B9.1 35
  • 57.31 (n)
  • 64.3 (a)
T25B9.1 36
  • 58 (a)
OneToOne
T25B9.1 37
  • 54 (a)
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

Selected 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 MAF
rs13911 -- 37,816,755(+) CGCCT(A/G)CTGCC intron-variant, utr-variant-3-prime
rs710187 - 37,808,082(+) GCATC(A/C/G/T)GCGGA missense, reference
rs739269 -- 37,816,061(+) CTCCC(C/T)TCTGC intron-variant
rs763137 -- 37,809,053(+) GTGGT(A/G)ATCAT intron-variant
rs929104 -- 37,812,504(+) CAAAT(C/T)TACAA intron-variant

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

Relevant External Links for GCAT Gene

HapMap Linkage Disequilibrium report
GCAT

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

Disorders for GCAT Gene

Relevant External Links for GCAT

Genetic Association Database (GAD)
GCAT
Human Genome Epidemiology (HuGE) Navigator
GCAT
genes like me logo Genes that share disorders with GCAT: view

No data available for UniProtKB/Swiss-Prot 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
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for GCAT Gene

Sources for GCAT Gene

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