InnateDB Protein
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IDBP-45980.7
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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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PGAP3
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Protein Name
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post-GPI attachment to proteins 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000367250
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InnateDB Gene
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IDBG-45978 (PGAP3)
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Protein Structure
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Function |
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable). {ECO:0000305PubMed:17021251}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000305PubMed:12460457}; Multi-pass membrane protein {ECO:0000305PubMed:12460457}. Endoplasmic reticulum membrane {ECO:0000305PubMed:12460457}; Multi-pass membrane protein {ECO:0000305PubMed:12460457}. Note=Mainly localizes to Golgi apparatus. {ECO:0000305}.
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Disease Associations |
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. {ECO:0000269PubMed:24439110}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed, with highest levels in thyroid and placenta. {ECO:0000269PubMed:12460457}.
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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 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0016788
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hydrolase activity, acting on ester bonds
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007217
Per1-like
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PFAM |
PF04080
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96FM1
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
93210
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UniGene |
Hs.623507
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RefSeq |
NP_001278655
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HUGO |
HGNC:23719
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OMIM |
611801
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CCDS |
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HPRD |
15118
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IMGT |
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EMBL |
AB088396
AK075474
AY358437
BC010652
CH471152
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GenPept |
AAH10652
AAQ88803
BAC11642
BAC55580
EAW60592
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