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

Gene ID: 23464, updated on 27-Nov-2024

Summary

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Official Symbol
GCATprovided by HGNC
Official Full Name
glycine C-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:4188
See related
Ensembl:ENSG00000100116 MIM:607422; AllianceGenome:HGNC:4188
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
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Genomic context

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See GCAT in Genome Data Viewer
Location:
22q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37807934..37817183)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38269561..38278815)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38203941..38213190)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 8034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38201632-38202327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13700 Neighboring gene H1.0 linker histone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38215099-38215650 Neighboring gene galanin receptor 3 Neighboring gene ankyrin repeat domain 54 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13702 Neighboring gene microRNA 658

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Interaction between L-threonine dehydrogenase and aminoacetone synthetase and mechanism of aminoacetone production. Tressel T, et al. J Biol Chem, 1986 Dec 15. PMID 3536927
  2. Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress. Hoshino A, et al. Cell Stress Chaperones, 2007 Summer. PMID 17688197, Free PMC Article
  3. Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs. Edgar AJ, et al. Eur J Biochem, 2000 Mar. PMID 10712613
  4. Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation arrest in a non-small cell bronchopulmonary cancer line. Jacquot C, et al. Anticancer Res, 2002 Jul-Aug. PMID 12174908
  5. Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function. Kristensen LV, et al. Neurochem Int, 2018 Jan. PMID 29111377

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. effect of gene on proliferation arrest in a non-small cell bronchopulmonary cancer line.
    Title: Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation arrest in a non-small cell bronchopulmonary cancer line.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC23053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycine C-acetyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in amino acid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in threonine catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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
XP_047297172.1
XP_054181279.1
XP_054181280.1
XP_054181281.1
XP_054181282.1
XP_054181283.1
XP_054181284.1
XP_054181285.1
XP_054181286.1
XP_054181287.1
XP_054181288.1

NCBI Reference Sequences (RefSeq)

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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_001171690.2 → NP_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/TrEMBL
    A8K228
    Related
    ENSP00000371110.3, ENST00000323205.10
    Conserved Domains (2) summary
    TIGR01822
    Location:27 → 444
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31 → 438
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

  2. NM_014291.4 → NP_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, Z97630
    Consensus CDS
    CCDS13957.1
    UniProtKB/Swiss-Prot
    E2QC23, O75600, Q6ZWF1, Q96CA9
    UniProtKB/TrEMBL
    A8K228
    Related
    ENSP00000248924.6, ENST00000248924.11
    Conserved Domains (2) summary
    TIGR01822
    Location:27 → 418
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31 → 412
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    37807934..37817183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028677.3 → XP_016884166.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X8

    UniProtKB/Swiss-Prot
    E2QC23, O75600, Q6ZWF1, Q96CA9
    UniProtKB/TrEMBL
    A8K228
    Conserved Domains (2) summary
    TIGR01822
    Location:27 → 418
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31 → 412
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

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

    UniProtKB/TrEMBL
    A8K228

  3. XM_017028675.3 → XP_016884164.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A8K228

  4. XM_005261409.5 → XP_005261466.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_005261466.1

    UniProtKB/TrEMBL
    A8K228
    Conserved Domains (2) summary
    COG0156
    Location:31 → 452
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    cl18945
    Location:27 → 458
    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 ...

  5. XM_005261410.5 → XP_005261467.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X6

    See identical proteins and their annotated locations for XP_005261467.1

    UniProtKB/TrEMBL
    A8K228
    Conserved Domains (2) summary
    TIGR01822
    Location:27 → 444
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31 → 438
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

  6. XM_017028676.3 → XP_016884165.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A8K228

  7. XM_047441216.1 → XP_047297172.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X4

  8. XM_005261411.3 → XP_005261468.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X7

    UniProtKB/TrEMBL
    A8K228
    Conserved Domains (2) summary
    TIGR01822
    Location:27 → 432
    2am3keto_CoA; glycine C-acetyltransferase
    COG0156
    Location:31 → 426
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

  9. XM_011530023.3 → XP_011528325.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X9

    Conserved Domains (2) summary
    COG0156
    Location:1 → 246
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    cl18945
    Location:1 → 252
    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 ...

  10. XM_024452183.2 → XP_024307951.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X10

    Conserved Domains (1) summary
    cl18945
    Location:1 → 238
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    38269561..38278815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325311.1 → XP_054181286.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X8

  2. XM_054325304.1 → XP_054181279.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X1

  3. XM_054325305.1 → XP_054181280.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X2

  4. XM_054325308.1 → XP_054181283.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X5

  5. XM_054325309.1 → XP_054181284.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X6

  6. XM_054325306.1 → XP_054181281.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X3

  7. XM_054325307.1 → XP_054181282.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X4

  8. XM_054325310.1 → XP_054181285.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X7

  9. XM_054325312.1 → XP_054181287.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X9

  10. XM_054325313.1 → XP_054181288.1  2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75600.1 GenPept UniProtKB/Swiss-Prot:O75600

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