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    LPGAT1 lysophosphatidylglycerol acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 9926, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LPGAT1provided by HGNC
    Official Full Name
    lysophosphatidylglycerol acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:28985
    See related
    Ensembl:ENSG00000123684 MIM:610473; AllianceGenome:HGNC:28985
    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
    NET8; FAM34A; LPLAT7; FAM34A1
    Summary
    This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in small intestine (RPKM 15.0), thyroid (RPKM 14.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LPGAT1 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (211743457..211830763, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (210989592..211076889, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (211916799..212004105, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 55 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:211868601-211869100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1791 Neighboring gene NEK2 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr1:211877490-211877991 Neighboring gene uncharacterized LOC105372904 Neighboring gene Sharpr-MPRA regulatory region 10839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:211908669-211909168 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3231 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3241 Neighboring gene RNA, 7SL, cytoplasmic 344, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1792 Neighboring gene LPGAT1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:212028571-212028750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2490 Neighboring gene Sharpr-MPRA regulatory region 10612 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3305 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:212101684-212102185 Neighboring gene peptidyl-prolyl cis-trans isomerase NIMA-interacting 4-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2493 Neighboring gene NANOG hESC enhancer GRCh37_chr1:212120901-212121513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212141376-212141876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212141877-212142377 Neighboring gene integrator complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2494 Neighboring gene small nucleolar RNA SNORA26

    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. An antigen recognized by autologous CTLs on a human bladder carcinoma. Guéguen M, et al. J Immunol, 1998 Jun 15. PMID 9637538
    2. Upregulation of LPGAT1 Enhances Lung Adenocarcinoma Proliferation. Gong H, et al. Front Biosci (Landmark Ed), 2023 May 11. PMID 37258473
    3. Identification and characterization of a gene encoding human LPGAT1, an endoplasmic reticulum-associated lysophosphatidylglycerol acyltransferase. Yang Y, et al. J Biol Chem, 2004 Dec 31. PMID 15485873
    4. Evidence for a role of LPGAT1 in influencing BMI and percent body fat in Native Americans. Traurig MT, et al. Obesity (Silver Spring), 2013 Jan. PMID 23505186, Free PMC Article
    5. Identification and characterization of LPLAT7 as an sn-1-specific lysophospholipid acyltransferase. Kawana H, et al. J Lipid Res, 2022 Oct. PMID 36049524, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of LPGAT1 Enhances Lung Adenocarcinoma Proliferation.
      Title: Upregulation of LPGAT1 Enhances Lung Adenocarcinoma Proliferation.
    2. LPGAT1 is a novel gene that influences BMI in Native Americans.
      Title: Evidence for a role of LPGAT1 in influencing BMI and percent body fat in Native Americans.
    3. human LPGAT1 is an endoplasmic reticulum-associated lysophosphatidylglycerol acyltransferase
      Title: Identification and characterization of a gene encoding human LPGAT1, an endoplasmic reticulum-associated lysophosphatidylglycerol acyltransferase.
    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 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

    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 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 2-acylglycerol O-acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 2-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 2-acylglycerophosphocholine O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lysophosphatidylethanolamine acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables lysophospholipid acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lysophospholipid acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylethanolamine acyl-chain remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol acyl-chain remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in triglyceride biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IMP
    Inferred from Mutant Phenotype
    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
    acyl-CoA:lysophosphatidylglycerol acyltransferase 1
    Names
    2-acylglycerophosphocholine O-acyltransferase
    acyl-CoA:monoacylglycerol acyltransferase LPGAT1
    family with sequence similarity 34, member A
    lysophospholipid acyltransferase 7
    stearoyl-CoA:1-lyso-2-acyl-PE acyltransferase
    NP_001307737.1
    NP_001362770.1
    NP_001362771.1
    NP_001362773.1
    NP_001362774.1
    NP_055688.1
    XP_011508531.1
    XP_047292088.1
    XP_047292091.1
    XP_047292096.1
    XP_054195920.1
    XP_054195921.1
    XP_054195922.1
    XP_054195923.1

    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_001320808.2 → NP_001307737.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC096637, AI264005, AL445488, BC034621, BP369253
      Consensus CDS
      CCDS31018.1
      UniProtKB/Swiss-Prot
      Q53YL2, Q92604
      Related
      ENSP00000355963.1, ENST00000366996.1
      Conserved Domains (2) summary
      cd07990
      Location:69 → 285
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:274 → 343
      Acyltransf_C; Acyltransferase C-terminus

    2. NM_001375841.1 → NP_001362770.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC096637, AL445488
      Consensus CDS
      CCDS31018.1
      UniProtKB/Swiss-Prot
      Q53YL2, Q92604
      Conserved Domains (2) summary
      cd07990
      Location:69 → 285
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:274 → 343
      Acyltransf_C; Acyltransferase C-terminus

    3. NM_001375842.1 → NP_001362771.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC096637, AL445488
      Consensus CDS
      CCDS31018.1
      UniProtKB/Swiss-Prot
      Q53YL2, Q92604
      Conserved Domains (2) summary
      cd07990
      Location:69 → 285
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:274 → 343
      Acyltransf_C; Acyltransferase C-terminus

    4. NM_001375844.1 → NP_001362773.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC096637, AL445488
      Conserved Domains (2) summary
      cd07990
      Location:102 → 318
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:307 → 376
      Acyltransf_C; Acyltransferase C-terminus

    5. NM_001375845.1 → NP_001362774.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC096637, AL445488
      Conserved Domains (2) summary
      cd07990
      Location:102 → 318
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:307 → 376
      Acyltransf_C; Acyltransferase C-terminus

    6. NM_014873.3 → NP_055688.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_055688.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC096637, AI264005, D86960
      Consensus CDS
      CCDS31018.1
      UniProtKB/Swiss-Prot
      Q53YL2, Q92604
      Related
      ENSP00000355964.4, ENST00000366997.9
      Conserved Domains (2) summary
      cd07990
      Location:69 → 285
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:274 → 343
      Acyltransf_C; Acyltransferase C-terminus

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      211743457..211830763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436132.1 → XP_047292088.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X1

    2. XM_011510229.4 → XP_011508531.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X3

      See identical proteins and their annotated locations for XP_011508531.1

      UniProtKB/Swiss-Prot
      Q53YL2, Q92604
      Conserved Domains (2) summary
      cd07990
      Location:69 → 285
      LPLAT_LCLAT1-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LCLAT1-like
      pfam16076
      Location:274 → 343
      Acyltransf_C; Acyltransferase C-terminus

    3. XM_047436140.1 → XP_047292096.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q53YL2, Q92604

    4. XM_047436135.1 → XP_047292091.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      210989592..211076889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339945.1 → XP_054195920.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X1

    2. XM_054339947.1 → XP_054195922.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q53YL2, Q92604

    3. XM_054339948.1 → XP_054195923.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q53YL2, Q92604

    4. XM_054339946.1 → XP_054195921.1  acyl-CoA:lysophosphatidylglycerol acyltransferase 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92604.1 GenPept UniProtKB/Swiss-Prot:Q92604

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