InnateDB Protein
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IDBP-236327.6
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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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PGAP2
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Protein Name
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post-GPI attachment to proteins 2
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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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ENSP00000380188
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InnateDB Gene
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IDBG-24645 (PGAP2)
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Protein Structure
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Function |
Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity). {ECO:0000250}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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Disease Associations |
Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]: An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. {ECO:0000269PubMed:23561846, ECO:0000269PubMed:23561847}. 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 testis and pancreas. {ECO:0000269PubMed:10585768}.
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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:0008565
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protein transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019402
Frag1/DRAM/Sfk1
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PFAM |
PF10277
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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 |
Q9UHJ9
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PhosphoSite |
PhosphoSite-
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TrEMBL |
E9PPF7
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UniProt Splice Variant |
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Entrez Gene |
27315
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UniGene |
Hs.614339
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RefSeq |
NP_001243164
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HUGO |
HGNC:17893
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OMIM |
615187
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CCDS |
CCDS73245
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HPRD |
17016
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IMGT |
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EMBL |
AC090587
AF159615
AF159616
AF159617
AF159618
AF159619
AF159620
AF159621
AK292181
AL096753
AY373030
BC009930
BX379511
CH471158
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GenPept |
AAF12755
AAF19156
AAH09930
AAQ75733
BAF84870
CAB46428
EAX02568
EAX02569
EAX02571
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