• Gene id: 8443

Gene Summary

• Gene Symbol: GNPAT   Gene   UCSC   Ensembl
• Aliases: DAP-AT, DAPAT, DHAPAT, RCDP2
• Gene name: glyceronephosphate O-acyltransferase
• Alternate names: dihydroxyacetone phosphate acyltransferase, DHAP-AT, acyl-CoA:dihydroxyacetonephosphateacyltransferase, glycerone-phosphate O-acyltransferase,
• Gene location: 1q42.2 (92482505: 92456204)     Exons: 8     NC_000009.12
• Gene summary(Entrez): 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 isoform
• OMIM: 602744

Protein Summary

• Protein general information: O15228  
  • Name: Dihydroxyacetone phosphate acyltransferase (DAP AT) (DHAP AT) (EC 2.3.1.42) (Acyl CoA:dihydroxyacetonephosphateacyltransferase) (Glycerone phosphate O acyltransferase)
  • Length: 680  
  • Mass: 77188
• Sequence:

  MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSV
  LNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRA
  IQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSE
  YVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGV
  PKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMEL
  LQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVK
  DQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEF
  IFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQY
  LAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKP
  ATAKL

• Structural information:
  • Interpro: IPR028353  IPR022284  IPR041728  IPR002123  
  • CDD: cd07993
  • STRING: ENSP00000355607
• Other Databases: GeneCards:  GNPAT  Malacards:  GNPAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016287	glycerone-phosphate O-acyltransferase activity	IBA	molecular function
GO:0008611	ether lipid biosynthetic process	IBA	biological process
GO:0031966	mitochondrial membrane	IBA	cellular component
GO:0008654	phospholipid biosynthetic process	IBA	biological process
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0008374	O-acyltransferase activity	IEA	molecular function
GO:0008611	ether lipid biosynthetic process	IEA	biological process
GO:0016287	glycerone-phosphate O-acyltransferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0044255	cellular lipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016287	glycerone-phosphate O-acyltransferase activity	IEA	molecular function
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0008611	ether lipid biosynthetic process	TAS	biological process
GO:0016287	glycerone-phosphate O-acyltransferase activity	TAS	molecular function
GO:0016287	glycerone-phosphate O-acyltransferase activity	TAS	molecular function
GO:0008611	ether lipid biosynthetic process	IEA	biological process
GO:0016287	glycerone-phosphate O-acyltransferase activity	IEA	molecular function
GO:0042552	myelination	IEA	biological process
GO:0061024	membrane organization	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0007416	synapse assembly	IEA	biological process
GO:0021587	cerebellum morphogenesis	IEA	biological process
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0070542	response to fatty acid	IEA	biological process
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0006650	glycerophospholipid metabolic process	IEA	biological process
GO:0016287	glycerone-phosphate O-acyltransferase activity	IDA	molecular function
GO:0016287	glycerone-phosphate O-acyltransferase activity	IDA	molecular function
GO:0016287	glycerone-phosphate O-acyltransferase activity	IDA	molecular function
GO:0008611	ether lipid biosynthetic process	IDA	biological process
GO:0016290	palmitoyl-CoA hydrolase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005777	peroxisome	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00564	Glycerophospholipid metabolism
hsa04146	Peroxisome

Diseases

Associated diseases	References
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Asthenoozoospermia	MIK: 32167074
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray