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    GNPAT glyceronephosphate O-acyltransferase [ Homo sapiens (human) ]

    Gene ID: 8443, updated on 27-Nov-2024

    Summary

    Official Symbol
    GNPATprovided by HGNC
    Official Full Name
    glyceronephosphate O-acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:4416
    See related
    Ensembl:ENSG00000116906 MIM:602744; AllianceGenome:HGNC:4416
    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
    DAPAT; RCDP2; DAP-AT; DHAPAT
    Summary
    This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in testis (RPKM 20.9), heart (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GNPAT in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (231241212..231277973)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230624475..230661237)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231376958..231413719)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 67 Neighboring gene NANOG hESC enhancer GRCh37_chr1:231319561-231320089 Neighboring gene TRIM67 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231350707-231351208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231352923-231353422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231356573-231357073 Neighboring gene 40S small subunit processome assembly factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:231376971-231377860 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:231420145-231420646 Neighboring gene RNA, 5S ribosomal pseudogene 80 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231472900-231473775 Neighboring gene exocyst complex component 8

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycerone-phosphate O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glycerone-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycerone-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cerebellum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ether lipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ether lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ether lipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paranodal junction assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidic acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    located_in peroxisomal membrane HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    dihydroxyacetone phosphate acyltransferase
    Names
    DHAP-AT
    acyl-CoA:dihydroxyacetonephosphateacyltransferase
    glycerone-phosphate O-acyltransferase
    NP_001303279.1
    NP_055051.1
    XP_005273370.1
    XP_054195169.1

    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.

    Genomic

    1. NG_008240.2 RefSeqGene

      Range
      5040..41801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001316350.2NP_001303279.1  dihydroxyacetone phosphate acyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK297982, AL137801, BE222957, DC366380
      UniProtKB/TrEMBL
      Q53FI2, Q53H08
      Conserved Domains (1) summary
      cd07993
      Location:73278
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
    2. NM_014236.4NP_055051.1  dihydroxyacetone phosphate acyltransferase isoform 1

      See identical proteins and their annotated locations for NP_055051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ002190, AL137801, BE222957
      Consensus CDS
      CCDS1592.1
      UniProtKB/Swiss-Prot
      B4DNM9, O15228, Q5TBH7, Q9BWC2
      UniProtKB/TrEMBL
      Q53FI2, Q53H08
      Related
      ENSP00000355607.4, ENST00000366647.9
      Conserved Domains (2) summary
      cd07993
      Location:134339
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      PTZ00374
      Location:62608
      PTZ00374; dihydroxyacetone phosphate acyltransferase; Provisional

    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
      231241212..231277973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273313.5XP_005273370.1  dihydroxyacetone phosphate acyltransferase isoform X1

      UniProtKB/TrEMBL
      Q53FI2, Q53H08
      Conserved Domains (2) summary
      cd07993
      Location:133338
      LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
      PTZ00374
      Location:61607
      PTZ00374; dihydroxyacetone phosphate acyltransferase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      230624475..230661237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339194.1XP_054195169.1  dihydroxyacetone phosphate acyltransferase isoform X1