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

Gene ID: 57678, updated on 2-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
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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 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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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
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)

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

  • 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 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

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