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

Gene ID: 8443, updated on 14-Oct-2019

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
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

Genomic context

See GNPAT in Genome Data Viewer
Location:
1q42.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (231241210..231277973)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231376919..231413719)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 67 Neighboring gene uncharacterized LOC149373 Neighboring gene chromosome 1 open reading frame 131 Neighboring gene uncharacterized LOC112268256 Neighboring gene RNA, 5S ribosomal pseudogene 80 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 BioSystems

  • Glycerophospholipid Biosynthetic Pathway, organism-specific biosystem (from WikiPathways)
    Glycerophospholipid Biosynthetic Pathway, organism-specific biosystemGlycerophospholipids or phosphoglycerides, in which the hydrophobic regions are composed of two fatty acids joined to glycerol; and sphingolipids, in which a single fatty acid is joined to a fatty am...
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
    Glycerophospholipid metabolism, organism-specific biosystem
    Glycerophospholipid metabolism
  • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
    Glycerophospholipid metabolism, conserved biosystem
    Glycerophospholipid metabolism
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Plasmalogen biosynthesis, organism-specific biosystem (from REACTOME)
    Plasmalogen biosynthesis, organism-specific biosystem1-Acylglycerol-3-phosphate is synthesized from dihydroxyacetone phosphate, an acyl CoA molecule and NADPH + H+ in four reactions catalyzed by peroxisomal enzymes, either in the matrix of the organell...
  • Synthesis of PA, organism-specific biosystem (from REACTOME)
    Synthesis of PA, organism-specific biosystemIn the de novo synthesis of phosphatidic acid (PA), lysophosphatidic acid (LPA) is initially formed by the esterification of sn-1 by glycerol 3-phosphate acyltransferase (GPAT) from glycerol 3-phosph...
  • Triacylglyceride Synthesis, organism-specific biosystem (from WikiPathways)
    Triacylglyceride Synthesis, organism-specific biosystem
    Triacylglyceride Synthesis

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycerone-phosphate O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycerone-phosphate O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glycerone-phosphate O-acyltransferase activity TAS
Traceable Author Statement
more info
 
palmitoyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cerebellum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ether lipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ether lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ether lipid biosynthetic process TAS
Traceable Author Statement
more info
 
fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization IEA
Inferred from Electronic Annotation
more info
 
paranodal junction assembly IEA
Inferred from Electronic Annotation
more info
 
phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisomal membrane HDA PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
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_011542605.1
XP_011542606.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    O15228
    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
    O15228
    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: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    231241210..231277973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273313.4XP_005273370.1  dihydroxyacetone phosphate acyltransferase isoform X1

    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
  2. XM_011544304.2XP_011542606.1  dihydroxyacetone phosphate acyltransferase isoform X2

    See identical proteins and their annotated locations for XP_011542606.1

    Conserved Domains (1) summary
    cd07993
    Location:25230
    LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
  3. XM_011544303.3XP_011542605.1  dihydroxyacetone phosphate acyltransferase isoform X2

    See identical proteins and their annotated locations for XP_011542605.1

    Conserved Domains (1) summary
    cd07993
    Location:25230
    LPLAT_DHAPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: GPAT-like
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