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

Gene ID: 8443, updated on 24-Nov-2020

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
109.20201120 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 TRIM67 antisense RNA 1 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 PubChem

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 Updated Annotation Release 109.20201120

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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