Homo sapiens Protein: GNPAT
Summary
InnateDB Protein IDBP-107414.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNPAT
Protein Name glyceronephosphate O-acyltransferase
Synonyms DAP-AT; DAPAT; DHAPAT;
Species Homo sapiens
Ensembl Protein ENSP00000355607
InnateDB Gene IDBG-107412 (GNPAT)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Peroxisome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO:0000250}.
Disease Associations Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]: A disease characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. {ECO:0000269PubMed:11152660, ECO:0000269PubMed:21990100, ECO:0000269PubMed:9536089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 10 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0016287 glycerone-phosphate O-acyltransferase activity
GO:0016290 palmitoyl-CoA hydrolase activity
GO:0016746 transferase activity, transferring acyl groups
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006654 phosphatidic acid biosynthetic process
GO:0007416 synapse assembly
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0008611 ether lipid biosynthetic process
GO:0021587 cerebellum morphogenesis
GO:0030913 paranodal junction assembly
GO:0042493 response to drug
GO:0042552 myelination
GO:0042594 response to starvation
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
GO:0061024 membrane organization
GO:0070542 response to fatty acid
Cellular Component
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR002123 Phospholipid/glycerol acyltransferase
PFAM PF01553
PRINTS
PIRSF
SMART SM00563
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O15228
PhosphoSite PhosphoSite-O15228
TrEMBL Q71V38
UniProt Splice Variant
Entrez Gene 8443
UniGene Hs.607434
RefSeq NP_055051
HUGO HGNC:4416
OMIM 602744
CCDS CCDS1592
HPRD 04120
IMGT
EMBL AF035285 AF043937 AF218223 AF218224 AF218225 AF218226 AF218227 AF218228 AF218229 AF218230 AF218231 AF218232 AF218233 AJ002190 AL117352 AL137801 BC000450
GenPept AAB88177 AAC24505 AAG17547 AAH00450 CAA05242 CAI21988 CAI23094