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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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