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    GLYAT glycine-N-acyltransferase [ Homo sapiens (human) ]

    Gene ID: 10249, updated on 7-Apr-2024

    Summary

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    Official Symbol
    GLYATprovided by HGNC
    Official Full Name
    glycine-N-acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:13734
    See related
    Ensembl:ENSG00000149124 MIM:607424; AllianceGenome:HGNC:13734
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAT; GAT; ACGNAT
    Summary
    The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 86.1), liver (RPKM 53.7) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    Location:
    11q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (58708757..58731943, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (58658251..58681452, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58476230..58499416, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:58346914-58347605 Neighboring gene ZFP91-CNTF readthrough (NMD candidate) Neighboring gene ZFP91 zinc finger protein, atypical E3 ubiquitin ligase Neighboring gene ciliary neurotrophic factor Neighboring gene NANOG hESC enhancer GRCh37_chr11:58419172-58419673 Neighboring gene NANOG hESC enhancer GRCh37_chr11:58420305-58420859 Neighboring gene glycine-N-acyltransferase pseudogene Neighboring gene MPRA-validated peak1282 silencer Neighboring gene Sharpr-MPRA regulatory region 12556 Neighboring gene translation machinery associated 16 homolog pseudogene 1

    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. Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA. Rohwer JM, et al. Int J Mol Sci, 2021 Mar 18. PMID 33803916, Free PMC Article
    2. Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. Schulke D, et al. Biochimie, 2021 Apr. PMID 33567294
    3. New insights into the catalytic mechanism of human glycine N-acyltransferase. van der Sluis R, et al. J Biochem Mol Toxicol, 2017 Nov. PMID 28759163
    4. Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway. van der Sluis R, et al. Gene, 2015 Oct 15. PMID 26149650
    5. Characterisation of the influence of genetic variations on the enzyme activity of a recombinant human glycine N-acyltransferase. van der Sluis R, et al. Gene, 2013 Feb 25. PMID 23237781

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA.
      Title: Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA.
    2. Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
      Title: Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
    3. GLYAT exhibits mechanistic kinetic cooperativity towards its substrate glycine.
      Title: New insights into the catalytic mechanism of human glycine N-acyltransferase.
    4. Data indicate that Afrikaner caucasians have a Q61L single nucleotide polymorphism (SNP) occurring at a high frequency (12%).
      Title: Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway.
    5. SNP variations causing amino acid substitutions in the human GLYAT gene influence the kinetic properties of the enzyme.
      Title: Characterisation of the influence of genetic variations on the enzyme activity of a recombinant human glycine N-acyltransferase.
    6. We identify GLYAT gene which appears to co-regulate bone size phenotypes (BSPs) and appendicular lean mass (ALM).
      Title: Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study.
    7. hGLYAT is a good candidate as a novel marker of hepatocellular carcinoma and may be a key molecule in the transition between differentiation and carcinogenesis of liver cells.
      Title: Designation of enzyme activity of glycine-N-acyltransferase family genes and depression of glycine-N-acyltransferase in human hepatocellular carcinoma.
    8. The aim of this work was to report a comprehensive investigation of GLYAT genetic polymorphisms in DNA samples from 55 subjects of French Caucasian origin.
      Title: Genetic polymorphisms of glycine N-acyltransferase (GLYAT) in a French Caucasian population.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Genetic polymorphisms of glycine N-acyltransferase (GLYAT) in a French Caucasian population.
    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

    EBI GWAS Catalog

    Description
    Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables glycine N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycine N-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycine N-benzoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycine N-benzoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycine N-benzoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glycine N-benzoyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in benzoyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in monocarboxylic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    glycine N-acyltransferase
    Names
    AAc
    HRP-1(CLP)
    acyl-CoA:glycine N-acyltransferase
    aralkyl acyl-CoA N-acyltransferase
    aralkyl acyl-CoA:amino acid N-acyltransferase
    aralkyl-CoA N-acyltransferase
    benzoyl-coenzyme A:glycine N-acyltransferase
    epididymis secretory sperm binding protein
    glycine N-benzoyltransferase
    NP_005829.3
    NP_964011.2
    XP_016872576.1
    XP_054223415.1

    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_005838.4 → NP_005829.3  glycine N-acyltransferase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF023466, BC009785, DR004166
      Consensus CDS
      CCDS7971.1
      UniProtKB/Swiss-Prot
      Q6IB77
      Related
      ENSP00000278400.3, ENST00000278400.3
      Conserved Domains (1) summary
      pfam06021
      Location:11 → 161
      Gly_acyl_tr_N; Aralkyl acyl-CoA:amino acid N-acyltransferase

    2. NM_201648.3 → NP_964011.2  glycine N-acyltransferase isoform a

      See identical proteins and their annotated locations for NP_964011.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AI253073, AP000445, BC009785, BG617408, CB161978
      Consensus CDS
      CCDS7970.1
      UniProtKB/Swiss-Prot
      H1AE11, O14833, Q6IB77, Q96QK7
      UniProtKB/TrEMBL
      A0A384P5E3
      Related
      ENSP00000340200.3, ENST00000344743.8
      Conserved Domains (2) summary
      pfam08444
      Location:207 → 295
      Gly_acyl_tr_C; Aralkyl acyl-CoA:amino acid N-acyltransferase, C-terminal region
      pfam06021
      Location:11 → 206
      Gly_acyl_tr_N; Aralkyl acyl-CoA:amino acid N-acyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      58708757..58731943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017087.1 → XP_016872576.1  glycine N-acyltransferase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      58658251..58681452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367440.1 → XP_054223415.1  glycine N-acyltransferase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IB77.3 GenPept UniProtKB/Swiss-Prot:Q6IB77

    Gene LinkOut

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