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    AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 10554, updated on 5-Mar-2024

    Summary

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    Official Symbol
    AGPAT1provided by HGNC
    Official Full Name
    1-acylglycerol-3-phosphate O-acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:324
    See related
    Ensembl:ENSG00000204310 MIM:603099; AllianceGenome:HGNC:324
    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
    G15; LPAATA; LPLAT1; 1-AGPAT1; LPAAT-alpha
    Summary
    This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 25.5), brain (RPKM 21.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AGPAT1 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32168212..32178108, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32021403..32031299, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32135989..32145885, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32116858-32117395 Neighboring gene proline rich transmembrane protein 1 Neighboring gene uncharacterized LOC100507547 Neighboring gene PPT2-EGFL8 readthrough (NMD candidate) Neighboring gene palmitoyl-protein thioesterase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32134815-32135567 Neighboring gene EGF like domain multiple 8 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:32137076-32138275 Neighboring gene microRNA 6721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:32145942-32146470 Neighboring gene microRNA 6833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32150105-32150623 Neighboring gene ring finger protein 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32150624-32151141 Neighboring gene advanced glycosylation end-product specific receptor

    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. AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis. Vessby J, et al. Clin Transl Gastroenterol, 2022 May 1. PMID 35363634, Free PMC Article
    2. Topology of acyltransferase motifs and substrate specificity and accessibility in 1-acyl-sn-glycero-3-phosphate acyltransferase 1. Yamashita A, et al. Biochim Biophys Acta, 2007 Sep. PMID 17707131
    3. Lysophospholipid transacetylase in the regulation of PAF levels in human monocytes and macrophages. Servillo L, et al. FASEB J, 2006 May. PMID 16571775
    4. Human lysophosphatidic acid acyltransferase is encoded by a gene located in the major histocompatibility complex. Aguado B, et al. Biochem Soc Trans, 1997 Nov. PMID 9450025
    5. A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. Stamps AC, et al. Biochem J, 1997 Sep 1. PMID 9291118, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis.
      Title: AGPAT1 as a Novel Colonic Biomarker for Discriminating Between Ulcerative Colitis With and Without Primary Sclerosing Cholangitis.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.
    4. Results suggest that motifs II and III of 1-acyl-sn-glycero-3-phosphate acyltransferase 1 are involved in lysophosphatidic acid binding, and motifs I and IV are involved in acyl-CoA binding.
      Title: Topology of acyltransferase motifs and substrate specificity and accessibility in 1-acyl-sn-glycero-3-phosphate acyltransferase 1.
    5. The differences in expression of AGPAT1 in human monocytes and macrophages, and its effect on platelet-activating factor in these cells is reported.
      Title: Lysophospholipid transacetylase in the regulation of PAF levels in human monocytes and macrophages.
    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
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    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

    Clone Names

    • MGC4007, MGC5423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CDP-diacylglycerol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytokine-mediated signaling pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    1-acyl-sn-glycerol-3-phosphate acyltransferase alpha
    Names
    1-AGP acyltransferase 1
    1-AGPAT 1
    1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)
    1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)
    epididymis secretory sperm binding protein
    lysophosphatidic acid acyltransferase alpha
    lysophospholipid acyltransferase
    lysophospholipid acyltransferase l
    NP_001358366.1
    NP_001358367.1
    NP_001358368.1
    NP_006402.1
    NP_116130.2

    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_001371437.1 → NP_001358366.1  1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2)
      Source sequence(s)
      AL662884
      UniProtKB/TrEMBL
      Q71VH6
      Related
      ENST00000490711.5
      Conserved Domains (1) summary
      cd07989
      Location:73 → 259
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    2. NM_001371438.1 → NP_001358367.1  1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AL662884
      Consensus CDS
      CCDS4744.1
      UniProtKB/Swiss-Prot
      A2BFI5, Q5BL03, Q99943
      UniProtKB/TrEMBL
      A0A024RCV5, Q71VH6
      Related
      ENSP00000364245.2, ENST00000375104.6
      Conserved Domains (1) summary
      cd07989
      Location:69 → 255
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    3. NM_001371439.1 → NP_001358368.1  1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AL662884
      Consensus CDS
      CCDS4744.1
      UniProtKB/Swiss-Prot
      A2BFI5, Q5BL03, Q99943
      UniProtKB/TrEMBL
      A0A024RCV5, Q71VH6
      Related
      ENSP00000378874.1, ENST00000395496.5
      Conserved Domains (1) summary
      cd07989
      Location:69 → 255
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    4. NM_006411.4 → NP_006402.1  1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

      See identical proteins and their annotated locations for NP_006402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AI193422, BC004310, DA529681
      Consensus CDS
      CCDS4744.1
      UniProtKB/Swiss-Prot
      A2BFI5, Q5BL03, Q99943
      UniProtKB/TrEMBL
      A0A024RCV5, Q71VH6
      Related
      ENSP00000364248.3, ENST00000375107.8
      Conserved Domains (1) summary
      cd07989
      Location:69 → 255
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    5. NM_032741.5 → NP_116130.2  1-acyl-sn-glycerol-3-phosphate acyltransferase alpha isoform 1 precursor

      See identical proteins and their annotated locations for NP_116130.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and uses a downstream start codon compared to variant 3. The encoded isoform (1) is shorter than isoform 2.
      Source sequence(s)
      AI193422, BC002402, BM763275, DB118884
      Consensus CDS
      CCDS4744.1
      UniProtKB/Swiss-Prot
      A2BFI5, Q5BL03, Q99943
      UniProtKB/TrEMBL
      A0A024RCV5, Q71VH6
      Related
      ENSP00000337463.6, ENST00000336984.6
      Conserved Domains (1) summary
      cd07989
      Location:69 → 255
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      32168212..32178108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      3500814..3510710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3606564..3616460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3473193..3483089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3510233..3520129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      3391413..3401309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3484419..3494315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      32021403..32031299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99943.2 GenPept UniProtKB/Swiss-Prot:Q99943

    Gene LinkOut

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

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