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GCAT glycine C-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 23464, updated on 7-Oct-2018

Summary

Official Symbol
GCATprovided by HGNC
Official Full Name
glycine C-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:4188
See related
Ensembl:ENSG00000100116 MIM:607422; Vega:OTTHUMG00000150664
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KBL
Summary
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]
Expression
Ubiquitous expression in pancreas (RPKM 12.0), prostate (RPKM 8.4) and 24 other tissues See more
Orthologs

Genomic context

See GCAT in Genome Data Viewer
Location:
22q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (37807894..37817177)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38203906..38213183)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TRIO and F-actin binding protein Neighboring gene uncharacterized LOC102724378 Neighboring gene H1 histone family member 0 Neighboring gene galanin receptor 3 Neighboring gene ankyrin repeat domain 54 Neighboring gene microRNA 658

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Glycine, serine and threonine metabolism, organism-specific biosystem (from KEGG)
    Glycine, serine and threonine metabolism, organism-specific biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Glycine, serine and threonine metabolism, conserved biosystem (from KEGG)
    Glycine, serine and threonine metabolism, conserved biosystemSerine is derived from 3-phospho-D-glycerate, an intermediate of glycolysis [MD:M00020], and glycine is derived from serine. Threonine is an essential amino acid, which animals cannot synthesize. In ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Threonine catabolism, organism-specific biosystem (from REACTOME)
    Threonine catabolism, organism-specific biosystemThe degradation of L-threonine to glycine in both prokaryotes and eukaryotes takes place through a two-step biochemical pathway in mitochondria (Dale 1978). In the first step, L-threonine is oxidised...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC23053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycine C-acetyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-threonine catabolic process to glycine IEA
Inferred from Electronic Annotation
more info
 
biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cellular amino acid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial
Names
2-amino-3-ketobutyrate-CoA ligase
AKB ligase
aminoacetone synthase
glycine acetyltransferase
NP_001165161.1
NP_055106.1
XP_005261466.1
XP_005261467.1
XP_005261468.1
XP_011528325.1
XP_016884163.1
XP_016884164.1
XP_016884165.1
XP_016884166.1
XP_024307951.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001171690.1NP_001165161.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001165161.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK123190, BP309052, Z97630
    Consensus CDS
    CCDS54527.1
    UniProtKB/Swiss-Prot
    O75600
    Related
    ENSP00000371110.3, OTTHUMP00000198189, ENST00000323205.10, OTTHUMT00000319507
    Conserved Domains (2) summary
    TIGR01822
    Location:27444
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31438
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
  2. NM_014291.3NP_055106.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_055106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK290093, BP309052, Z97630
    Consensus CDS
    CCDS13957.1
    UniProtKB/Swiss-Prot
    O75600
    UniProtKB/TrEMBL
    A8K228
    Related
    ENSP00000248924.6, OTTHUMP00000198188, ENST00000248924.10, OTTHUMT00000319506
    Conserved Domains (2) summary
    TIGR01822
    Location:27418
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31412
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    37807894..37817177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028674.2XP_016884163.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X1

  2. XM_017028677.2XP_016884166.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X7

    UniProtKB/Swiss-Prot
    O75600
    Conserved Domains (2) summary
    TIGR01822
    Location:27418
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31412
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
  3. XM_005261411.2XP_005261468.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X6

    Conserved Domains (2) summary
    TIGR01822
    Location:27432
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31426
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
  4. XM_017028676.2XP_016884165.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X3

  5. XM_011530023.2XP_011528325.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X8

    Conserved Domains (2) summary
    COG0156
    Location:1246
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    cl18945
    Location:1252
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  6. XM_017028675.2XP_016884164.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X2

  7. XM_024452183.1XP_024307951.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X9

    Conserved Domains (1) summary
    cl18945
    Location:1238
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  8. XM_005261410.4XP_005261467.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_005261467.1

    UniProtKB/Swiss-Prot
    O75600
    Conserved Domains (2) summary
    TIGR01822
    Location:27444
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31438
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
  9. XM_005261409.4XP_005261466.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X4

    See identical proteins and their annotated locations for XP_005261466.1

    Conserved Domains (2) summary
    COG0156
    Location:31452
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    cl18945
    Location:27458
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

RNA

  1. XR_002958677.1 RNA Sequence

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