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Gnpat Gene Detail
Summary
  • Symbol
    Gnpat
  • Name
    glyceronephosphate O-acyltransferase
  • Synonyms
    D1Ertd819e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343460
    NCBI Gene: 14712
Location & Maps
more
  • Sequence Map
    Chr8:124863033-124890057 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27025 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 72.81 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    GNPAT, glyceronephosphate O-acyltransferase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GNPAT, glyceronephosphate O-acyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DAPAT, DAP-AT, DHAPAT, RCDP2
  • Links
    NCBI Gene ID: 8443
    neXtProt AC: NX_O15228

  • Chr Location
    1q42.2; chr1:231241173-231277973 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gnpat mouse models; 1 with human GNPAT associations

Human Disease Mouse Models
       Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2   OMIM: 222765 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 1 allele in 1 genetic background
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Gene trapped
    12
  • Targeted
    3
  • Incidental Mutations
Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031119 VEGA Gene Model | MGI Sequence Detail 27025 C57BL/6J ±  kb
transcript OTTMUST00000077095 VEGA | MGI Sequence Detail 2984 Not Applicable  
polypeptide OTTMUSP00000040684 VEGA | MGI Sequence Detail 678 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    253 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000008121 dihydroxyacetone phosphate acyltransferase
  • EC
  • InterPro Domains
    IPR028353 Dihydroxyacetone phosphate acyltransferase
    IPR022284 Glycerol-3-phosphate O-acyltransferase/Dihydroxyacetone phosphate acyltransferase
    IPR002123 Phospholipid/glycerol acyltransferase
Molecular
Reagents
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  • All nucleic 175
    cDNA 174
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1289284, MGI:2142692
References
more
  • Summaries
    All 51
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 10
    Phenotypes 18
  • Earliest
    J:56268 Ofman R, et al., Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase. Biochim Biophys Acta. 1999 Jul 9;1439(1):89-94
  • Latest
    J:225851 Dorninger F, et al., Ether lipid deficiency does not cause neutropenia or leukopenia in mice and men. Cell Metab. 2015 May 5;21(5):650-1

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory