Version 5.4
Homo sapiens Protein: PGAP2
Summary
InnateDB Protein IDBP-590984.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PGAP2
Protein Name post-GPI attachment to proteins 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000435223
InnateDB Gene IDBG-24645 (PGAP2)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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.
Tissue Specificity Ubiquitously expressed, with highest levels in testis and pancreas. {ECO:0000269PubMed:10585768}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008565 protein transporter activity
Biological Process
GO:0006506 GPI anchor biosynthetic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR019402 Frag1/DRAM/Sfk1
PFAM PF10277
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UHJ9
PhosphoSite PhosphoSite-
TrEMBL E9PPF7
UniProt Splice Variant
Entrez Gene 27315
UniGene Hs.614339
RefSeq NP_001243169
HUGO HGNC:17893
OMIM 615187
CCDS CCDS58112
HPRD 17016
IMGT
EMBL AC090587 AF159615 AF159616 AF159617 AF159618 AF159619 AF159620 AF159621 AK292181 AL096753 AY373030 BC009930 BX379511 CH471158
GenPept AAF12755 AAF19156 AAH09930 AAQ75733 BAF84870 CAB46428 EAX02568 EAX02569 EAX02571 EAX02572

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca