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    GLYATL3 glycine-N-acyltransferase like 3 [ Homo sapiens (human) ]

    Gene ID: 389396, updated on 17-Sep-2024

    Summary

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    Official Symbol
    GLYATL3provided by HGNC
    Official Full Name
    glycine-N-acyltransferase like 3provided by HGNC
    Primary source
    HGNC:HGNC:21349
    See related
    Ensembl:ENSG00000203972 MIM:614763; AllianceGenome:HGNC:21349
    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
    C6orf140; bA28H17.2
    Summary
    Predicted to enable glycine N-acyltransferase activity. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GLYATL3 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49499923..49528078)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49342084..49370250)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49467636..49495791)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene methylmalonyl-CoA mutase Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:49430149-49431049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:49431050-49431949 Neighboring gene centromere protein Q Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49450846-49451350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49451351-49451854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49519182-49519701 Neighboring gene chromosome 6 open reading frame 141 Neighboring gene Sharpr-MPRA regulatory region 6456 Neighboring gene cytochrome P450 family 2 subfamily AC member 1, pseudogene

    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 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. Identification of glycine N-acyltransferase-like 2 (GLYATL2) as a transferase that produces N-acyl glycines in humans. Waluk DP, et al. FASEB J, 2010 Aug. PMID 20305126
    2. Voxelwise genome-wide association study (vGWAS). Stein JL, et al. Neuroimage, 2010 Nov 15. PMID 20171287, Free PMC Article
    3. An integrated workflow for charting the human interaction proteome: insights into the PP2A system. Glatter T, et al. Mol Syst Biol, 2009. PMID 19156129, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Voxelwise genome-wide association study (vGWAS).
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ44407

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycine N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycine N-acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycine N-acyltransferase-like protein 3
    Names
    acyl-CoA:glycine-N-acyltransferase-like protein 3
    NP_001010904.1

    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_001010904.2 → NP_001010904.1  glycine N-acyltransferase-like protein 3

      See identical proteins and their annotated locations for NP_001010904.1

      Status: VALIDATED

      Source sequence(s)
      AL590244, AW591696, DB246049
      Consensus CDS
      CCDS47440.1
      UniProtKB/Swiss-Prot
      Q5SZD4
      Related
      ENSP00000360240.4, ENST00000371197.9
      Conserved Domains (2) summary
      pfam06021
      Location:10 → 190
      Gly_acyl_tr_N; Aralkyl acyl-CoA:amino acid N-acyltransferase
      cl17182
      Location:191 → 279
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      49499923..49528078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49342084..49370250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SZD4.3 GenPept UniProtKB/Swiss-Prot:Q5SZD4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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