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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
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Genomic context

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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

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