Entity Details

Primary name GNPAT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15228
EntryNameGNPAT_HUMAN
FullNameDihydroxyacetone phosphate acyltransferase
TaxID9606
Evidenceevidence at protein level
Length680
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesGNPAT

GO terms

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GOName
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0006631 fatty acid metabolic process
GO:0006654 phosphatidic acid biosynthetic process
GO:0007416 synapse assembly
GO:0007584 response to nutrient
GO:0008104 protein localization
GO:0008611 ether lipid biosynthetic process
GO:0008654 phospholipid biosynthetic process
GO:0016020 membrane
GO:0016287 glycerone-phosphate O-acyltransferase activity
GO:0021587 cerebellum morphogenesis
GO:0030913 paranodal junction assembly
GO:0031966 mitochondrial membrane
GO:0042493 response to drug
GO:0042594 response to starvation
GO:0061024 membrane organization
GO:0070542 response to fatty acid

Subcellular Location

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Subcellular Location
Peroxisome membrane

Domains

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DomainNameCategoryType
IPR002123 Phospholipid/glycerol acyltransferaseDomainDomain
IPR022284 Glycerol-3-phosphate O-acyltransferase/Dihydroxyacetone phosphate acyltransferaseFamilyFamily
IPR028353 Dihydroxyacetone phosphate acyltransferaseFamilyFamily
IPR041728 GPAT/DHAPAT, acyltransferase domainDomainDomain

Diseases

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Disease IDSourceNameDescription
222765 OMIMRhizomelic chondrodysplasia punctata 2 (RCDP2)A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. The disease is caused by variants affecting the gene represented in this entry.