Gnpat glyceronephosphate O-acyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnpatprovided by MGI
Official Full Name: glyceronephosphate O-acyltransferaseprovided by MGI
Primary source: MGI:MGI:1343460
See related: Ensembl:ENSMUSG00000031985 AllianceGenome:MGI:1343460
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DHAPAT; D1Ertd819e
Summary: Enables glycerone-phosphate O-acyltransferase activity. Acts upstream of or within several processes, including cell junction assembly; cerebellum morphogenesis; and ether lipid biosynthetic process. Located in peroxisome. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study disease of mental health and rhizomelic chondrodysplasia punctata type 2. Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata type 2. Orthologous to human GNPAT (glyceronephosphate O-acyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 81.3), heart adult (RPKM 49.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E2; 8 72.81 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (125589772..125616796)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (124863033..124890057)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gnpat does not play an essential role in systemic iron homeostasis in murine model.
Title: Gnpat does not play an essential role in systemic iron homeostasis in murine model.
Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.
Title: Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.
In the glyceronephosphate O-acyltransferase (Gnpat) KO mouse, a model of complete deficiency in ether lipid biosynthesis were found reduced brain levels of various neurotransmitters. It was proposed that the lack of ether lipids alters the properties of synaptic vesicles leading to reduced amounts and release of neurotransmitters.
Title: Disturbed neurotransmitter homeostasis in ether lipid deficiency.
Data show that EL deficiency (DHAPAT-null) caused the reduction in synaptic respiratory activity and consequently the decrease in the ATP/ADP ratio by >20%.
Title: Impaired neurotransmission in ether lipid-deficient nerve terminals.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1Ertd819e (e-PCR), detects polymorphism
- UniSTS:167299

RH136424 (e-PCR)
- UniSTS:210413

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables catalytic activity	IDA Inferred from Direct Assay more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables glycerone-phosphate O-acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cerebellum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ether lipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ether lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ether lipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ether lipid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in glycerophospholipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within paranodal junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in peroxisomal matrix	TAS Traceable Author Statement more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation more info
located_in peroxisomal membrane	ISO Inferred from Sequence Orthology more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dihydroxyacetone phosphate acyltransferase

Names: DAP-AT; DHAP-AT; acyl-CoA:dihydroxyacetonephosphateacyltransferase; glycerone-phosphate O-acyltransferase

NP_034452.3

EC 2.3.1.42

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.