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

    Gene ID: 23464, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

      UniProtKB/TrEMBL
      A8K228

    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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

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

      UniProtKB/TrEMBL
      A8K228

    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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