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

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Structural basis of the acyl-transfer mechanism of human GPAT1. Johnson ZL, et al. Nat Struct Mol Biol, 2023 Jan. PMID 36522428
    2. Lipid peroxidation inactivates rat liver microsomal glycerol-3-phosphate acyl transferase. Effect of iron and copper salts and carbon tetrachloride. Thomas PD, et al. J Biol Chem, 1990 Feb 15. PMID 2303421
    3. [Identification of GPAT1-dependent mitochondrial metabolism as a novel therapeutic target for AML]. Irifune H. Rinsho Ketsueki, 2022. PMID 35662157
    4. Expression and identification of p90 as the murine mitochondrial glycerol-3-phosphate acyltransferase. Yet SF, et al. Biochemistry, 1993 Sep 14. PMID 8369314
    5. Genetic Variation in the Mitochondrial Glycerol-3-Phosphate Acyltransferase Is Associated With Liver Injury. Hakim A, et al. Hepatology, 2021 Dec. PMID 34216018, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis of the acyl-transfer mechanism of human GPAT1.
      Title: Structural basis of the acyl-transfer mechanism of human GPAT1.
    2. [Identification of GPAT1-dependent mitochondrial metabolism as a novel therapeutic target for AML].
      Title: [Identification of GPAT1-dependent mitochondrial metabolism as a novel therapeutic target for AML].
    3. Genetic Variation in the Mitochondrial Glycerol-3-Phosphate Acyltransferase Is Associated With Liver Injury.
      Title: Genetic Variation in the Mitochondrial Glycerol-3-Phosphate Acyltransferase Is Associated With Liver Injury.
    4. Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.
      Title: Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.
    5. High GPAM expression is associated with Ovarian Carcinoma.
      Title: Glycerol-3-phosphate Acyltransferase 1 Promotes Tumor Cell Migration and Poor Survival in Ovarian Carcinoma.
    6. two transcriptional initiation sites and two promoters (promoter I and II) required for expression of the human GPAT1 (hGPAT1) gene were identified.
      Title: Identification and functional characterization of human glycerol-3-phosphate acyltransferase 1 gene promoters.
    7. Results suggest that GPAM is expressed in human breast cancer with associated changes in the cellular metabolism, in particular an increased synthesis of phospholipids, the major structural component of cellular membranes.
      Title: Integration of metabolomics and expression of glycerol-3-phosphate acyltransferase (GPAM) in breast cancer-link to patient survival, hormone receptor status, and metabolic profiling.
    8. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • 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

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    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)

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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_001244949.2 → NP_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:201 → 411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128 → 663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]

    2. NM_020918.6 → NP_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:201 → 411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128 → 663
      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_047425564.1 → XP_047281520.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5VW51, Q86TA3, Q9HCL2

    2. XM_005269998.2 → XP_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:201 → 411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128 → 663
      PlsB; Glycerol-3-phosphate O-acyltransferase [Lipid transport and metabolism]

    3. XM_024448089.2 → XP_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:201 → 411
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      cl28447
      Location:128 → 663
      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_054366421.1 → XP_054222396.1  glycerol-3-phosphate acyltransferase 1, mitochondrial isoform X1

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCL2.3 GenPept UniProtKB/Swiss-Prot:Q9HCL2

    Gene LinkOut

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

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