InnateDB Protein
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IDBP-107414.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GNPAT
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Protein Name
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glyceronephosphate O-acyltransferase
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Synonyms
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DAP-AT; DAPAT; DHAPAT;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000355607
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InnateDB Gene
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IDBG-107412 (GNPAT)
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Protein Structure
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Function |
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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}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
10
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002123
Phospholipid/glycerol acyltransferase
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PFAM |
PF01553
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PRINTS |
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PIRSF |
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SMART |
SM00563
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TIGRFAMs |
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Modification |
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SwissProt |
O15228
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PhosphoSite |
PhosphoSite-O15228
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TrEMBL |
Q71V38
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UniProt Splice Variant |
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Entrez Gene |
8443
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UniGene |
Hs.607434
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RefSeq |
NP_055051
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HUGO |
HGNC:4416
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OMIM |
602744
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CCDS |
CCDS1592
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HPRD |
04120
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IMGT |
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EMBL |
AF035285
AF043937
AF218223
AF218224
AF218225
AF218226
AF218227
AF218228
AF218229
AF218230
AF218231
AF218232
AF218233
AJ002190
AL117352
AL137801
BC000450
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GenPept |
AAB88177
AAC24505
AAG17547
AAH00450
CAA05242
CAI21988
CAI23094
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