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    GPAM glycerol-3-phosphate acyltransferase, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 57678, updated on 27-Nov-2024

    Summary

    Official Symbol
    GPAMprovided by HGNC
    Official Full Name
    glycerol-3-phosphate acyltransferase, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:24865
    See related
    Ensembl:ENSG00000119927 MIM:602395; AllianceGenome:HGNC:24865
    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
    GPAT; GPAT1
    Summary
    This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in fat (RPKM 277.9), liver (RPKM 26.0) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GPAM in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (112149865..112227677, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (113040886..113118691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (113909623..113943523, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902501 Neighboring gene uncharacterized LOC107984268 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:113821951-113822500 Neighboring gene MPRA-validated peak1087 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:113863635-113864136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:113864137-113864636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:113899789-113900288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:113999878-114000378 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:114048161-114048789 Neighboring gene Sharpr-MPRA regulatory region 2531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2832 Neighboring gene tectorin beta Neighboring gene microRNA 6715b Neighboring gene microRNA 6715a Neighboring gene guanylate cyclase 2G, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1560, MGC26846

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycerol-3-phosphate O-acyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables glycerol-3-phosphate O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycerol-3-phosphate O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glycerol-3-phosphate O-acyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    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 activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation-induced cell death of T cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in acyl-CoA metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in diacylglycerol biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycerophospholipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of activation-induced cell death of T cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidic acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphatidic acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylglycerol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    glycerol-3-phosphate acyltransferase 1, mitochondrial
    Names
    GPAT-1
    NP_001231878.1
    NP_065969.3
    XP_005270055.1
    XP_024303857.1
    XP_047281520.1
    XP_054222395.1
    XP_054222396.1
    XP_054222397.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001244949.2NP_001231878.1  glycerol-3-phosphate acyltransferase 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001231878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB046780, AL833061, AL833093, BC030783, BX647451, DA728196, DA802170
      Consensus CDS
      CCDS7570.1
      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2
      UniProtKB/TrEMBL
      Q6ZMF6, Q8N1G6
      Related
      ENSP00000265276.4, ENST00000348367.9
      Conserved Domains (2) summary
      cd07993
      Location:201411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]
    2. NM_020918.6NP_065969.3  glycerol-3-phosphate acyltransferase 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_065969.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB046780, AL598680, AL833061, AL833093, BX647451, DA313962, DA728196
      Consensus CDS
      CCDS7570.1
      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2
      UniProtKB/TrEMBL
      Q6ZMF6, Q8N1G6
      Conserved Domains (2) summary
      cd07993
      Location:201411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      112149865..112227677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425564.1XP_047281520.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2
    2. XM_005269998.2XP_005270055.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005270055.1

      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2
      UniProtKB/TrEMBL
      Q6ZMF6, Q8N1G6
      Conserved Domains (2) summary
      cd07993
      Location:201411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]
    3. XM_024448089.2XP_024303857.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2
      UniProtKB/TrEMBL
      Q6ZMF6, Q8N1G6
      Conserved Domains (2) summary
      cd07993
      Location:201411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      113040886..113118691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366421.1XP_054222396.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

    2. XM_054366420.1XP_054222395.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

    3. XM_054366422.1XP_054222397.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1