Human Gene GCAT (uc003atz.3)
  Description: Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
RefSeq Summary (NM_014291): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:38,203,912-38,212,906 Size: 8,995 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr22:38,203,975-38,212,725 Size: 8,751 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:38,203,912-38,212,906)mRNA (may differ from genome)Protein (419 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KBL_HUMAN
DESCRIPTION: RecName: Full=2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; Short=AKB ligase; EC=2.3.1.29; AltName: Full=Aminoacetone synthase; AltName: Full=Glycine acetyltransferase; Flags: Precursor;
CATALYTIC ACTIVITY: Acetyl-CoA + glycine = CoA + 2-amino-3- oxobutanoate.
COFACTOR: Pyridoxal phosphate (By similarity).
PATHWAY: Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine: step 2/2.
SUBCELLULAR LOCATION: Mitochondrion (By similarity). Nucleus. Note=Translocates to the nucleus upon cold and osmotic stress.
TISSUE SPECIFICITY: Strongly expressed in heart, brain, liver and pancreas. Also found in lung.
SIMILARITY: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GCAT
CDC HuGE Published Literature: GCAT

-  MalaCards Disease Associations
  MalaCards Gene Search: GCAT
Diseases sorted by gene-association score: leber optic atrophy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.07 RPKM in Pancreas
Total median expression: 355.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.5063-0.405 Picture PostScript Text
3' UTR -59.56181-0.329 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011282 - 2am3keto_CoA_ligase
IPR001917 - Aminotrans_II_pyridoxalP_BS
IPR004839 - Aminotransferase_I/II
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2

Pfam Domains:
PF00155 - Aminotransferase class I and II

SCOP Domains:
53383 - PLP-dependent transferases

ModBase Predicted Comparative 3D Structure on O75600
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0008890 glycine C-acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0030170 pyridoxal phosphate binding

Biological Process:
GO:0006520 cellular amino acid metabolic process
GO:0006567 threonine catabolic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0019518 L-threonine catabolic process to glycine

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  LF210359 - JP 2014500723-A/17862: Polycomb-Associated Non-Coding RNAs.
AK290093 - Homo sapiens cDNA FLJ77874 complete cds, highly similar to Homo sapiens glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase), mRNA.
DL491739 - Novel nucleic acids.
AK123190 - Homo sapiens cDNA FLJ41196 fis, clone BRACE2045772, highly similar to 2-AMINO-3-KETOBUTYRATE COENZYME A LIGASE, MITOCHONDRIAL PRECURSOR (EC 2.3.1.29).
BC014457 - Homo sapiens glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase), mRNA (cDNA clone MGC:23053 IMAGE:4859130), complete cds.
DL490319 - Novel nucleic acids.
AF077740 - Homo sapiens 2-amino-3-ketobutyrate-CoA ligase mRNA, nuclear gene encoding mitochondrial protein, complete cds.
CU677003 - Synthetic construct Homo sapiens gateway clone IMAGE:100017647 5' read GCAT mRNA.
KJ898493 - Synthetic construct Homo sapiens clone ccsbBroadEn_07887 GCAT gene, encodes complete protein.
LF337247 - JP 2014500723-A/144750: Polycomb-Associated Non-Coding RNAs.
LF337250 - JP 2014500723-A/144753: Polycomb-Associated Non-Coding RNAs.
LF337251 - JP 2014500723-A/144754: Polycomb-Associated Non-Coding RNAs.
JD057896 - Sequence 38920 from Patent EP1572962.
JD152799 - Sequence 133823 from Patent EP1572962.
JD156787 - Sequence 137811 from Patent EP1572962.
MA445936 - JP 2018138019-A/17862: Polycomb-Associated Non-Coding RNAs.
MA572824 - JP 2018138019-A/144750: Polycomb-Associated Non-Coding RNAs.
MA572827 - JP 2018138019-A/144753: Polycomb-Associated Non-Coding RNAs.
MA572828 - JP 2018138019-A/144754: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00260 - Glycine, serine and threonine metabolism

Reactome (by CSHL, EBI, and GO)

Protein O75600 (Reactome details) participates in the following event(s):

R-HSA-6798345 GCAT:PXLP dimer ligates CoASH to 2A-3OB to form Gly and Ac-CoA
R-HSA-6798667 TDH tetramer oxidises L-Thr to 2A-3OB
R-HSA-8849175 Threonine catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: KBL, KBL_HUMAN, NM_014291, NP_055106, O75600, Q96CA9
UCSC ID: uc003atz.3
RefSeq Accession: NM_014291
Protein: O75600 (aka KBL_HUMAN)
CCDS: CCDS13957.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014291.3
exon count: 9CDS single in 3' UTR: no RNA size: 1504
ORF size: 1260CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2671.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 174# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.