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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 61
  • 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 2.3.1 61

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 Leber Optic Atrophy. Among its related pathways are Viral mRNA Translation and Threonine catabolism. 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 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

Regulatory Elements for GCAT Gene

Enhancers for GCAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G037801 1.7 FANTOM5 ENCODE dbSUPER 19.9 -2.4 -2371 7.3 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC GCAT H1F0 GALR3 ANKRD54 MIR659 EIF3L PRDX3P1 JOSD1 C1QTNF6 CSNK1E
GH22G037745 1.7 FANTOM5 ENCODE dbSUPER 15.4 -57.2 -57186 10.9 HDGF FOXA2 PKNOX1 ARNT AGO1 SIN3A FEZF1 YY1 ZNF766 ZNF207 TRIOBP H1F0 GCAT GGA1 ENSG00000228274 LGALS2 ANKRD54 PICK1 LGALS1 POLR2F
GH22G037738 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -66.3 -66261 6.2 MLX ZNF133 FOS REST ZNF518A SMARCA4 GLIS1 RCOR2 HMBOX1 HNF4A TRIOBP H1F0 GCAT GGA1 ANKRD54 LOC102724378
GH22G037672 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -132.3 -132341 6.7 HDGF ARNT ARID4B SIN3A ZNF2 SLC30A9 ZNF766 FOS ZNF263 SP3 SH3BP1 LOC101927051 H1F0 GCAT GGA1 CYTH4 RAC2 GC22M041812 LGALS1
GH22G037558 1.7 Ensembl ENCODE dbSUPER 10.3 -242.4 -242379 13.7 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 LGALS2 CDC42EP1 GGA1 GCAT H1F0 LOC400927 ENSG00000273866
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GCAT on UCSC Golden Path with GeneCards custom track

Promoters for GCAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000301862 -1400 3801 HDGF HNRNPUL1 PKNOX1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1

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

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

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:0008890 glycine C-acetyltransferase activity NAS,IEA 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

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

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
cytosol 2
extracellular 1

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 --
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

(8) 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 232
Pyridoxal Phosphate Nutra Target, cofactor 15
Coenzyme A Nutra 0

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

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:

CRISPR Products

Inhibitory RNA Products

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
GCAT
ECgene alternative splicing isoforms for
GCAT

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, PaxDb, MaxQB, and MOPED for GCAT Gene



NURSA nuclear receptor signaling pathways regulating expression of GCAT Gene:

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

Primer Products

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 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia GCAT 34 35
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia GCAT 34 35
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Gcat 34 16 35
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Gcat 34
  • 86.62 (n)
oppossum
(Monodelphis domestica)
Mammalia GCAT 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCAT 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 83 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GCAT 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcat 34
  • 72.33 (n)
MGC76130 34
African clawed frog
(Xenopus laevis)
Amphibia gcat-prov 34
zebrafish
(Danio rerio)
Actinopterygii gcat 34 35
  • 67.75 (n)
Dr.2301 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12208 34
fruit fly
(Drosophila melanogaster)
Insecta CG10361 36 34 35
  • 64.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005781 34
  • 63.44 (n)
worm
(Caenorhabditis elegans)
Secernentea T25B9.1 36 34 35
  • 57.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 35
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons BIOF 34
  • 43.81 (n)
rice
(Oryza sativa)
Liliopsida Os01g0736400 34
  • 45.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2005 34
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

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
rs1000240010 -- 37,810,896(+) TCTCC(G/T)CCACC intron-variant
rs1000345223 -- 37,807,542(+) GGGGG(A/G)GGGTT intron-variant, upstream-variant-2KB
rs1000725558 -- 37,807,967(+) GGAGC(A/G)ATGTG utr-variant-5-prime
rs1000766585 -- 37,813,720(+) CAGAG(A/G)TTTGT intron-variant
rs1000821512 -- 37,811,303(+) CATGG(C/T)GAAAC 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)

Relevant External Links for GCAT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCAT

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

Disorders for GCAT Gene

MalaCards: The human disease database

(1) MalaCards diseases for GCAT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards
Search GCAT in MalaCards View complete list of genes associated with diseases

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
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 A.J. … Polak J.M. (Eur. J. Biochem. 2000) 3 4 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  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 64
  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. (Chem. Commun. (Camb.) 2006) 22 25 64
  5. 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 64

Products for GCAT Gene

Sources for GCAT Gene

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