|
InnateDB Protein
|
IDBP-760819.3
|
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
|
Gene Symbol
|
PIK3R5
|
|
Protein Name
|
|
|
Synonyms
|
F730038I15Rik; FOAP-2; p101; P101-PI3K;
|
|
Species
|
Homo sapiens
|
|
Ensembl Protein
|
ENSP00000462433
|
|
InnateDB Gene
|
IDBG-29574 (PIK3R5)
|
|
Protein Structure
|
|
| Function |
Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity). {ECO:0000250}.
|
| Subcellular Localization |
Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
|
| Disease Associations |
Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269PubMed:22065524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
| Tissue Specificity |
Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli. {ECO:0000269PubMed:15797027, ECO:0000269PubMed:22065524}.
|
| Comments |
|
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
8
[view]
|
| Protein-Protein |
6
[view]
|
| Protein-DNA |
0
|
| Protein-RNA |
0
|
| DNA-DNA |
2
[view]
|
| RNA-RNA |
0
|
| DNA-RNA |
0
|
|
|
|
Molecular Function |
| Accession |
GO Term |
|
GO:0031683
|
G-protein beta/gamma-subunit complex binding
|
|
GO:0046935
|
1-phosphatidylinositol-3-kinase regulator activity
|
|
| Biological Process |
|
| Cellular Component |
|
| PDB ID |
|
| InterPro |
IPR019522
Phosphoinositide 3-kinase regulatory subunit 5/6
|
| PFAM |
PF10486
|
| PRINTS |
|
| PIRSF |
|
| SMART |
|
| TIGRFAMs |
|
| Modification |
|
| SwissProt |
Q8WYR1
|
| PhosphoSite |
PhosphoSite-Q8WYR1
|
| TrEMBL |
L7RT34
|
| UniProt Splice Variant |
|
| Entrez Gene |
23533
|
| UniGene |
Hs.738684
|
| RefSeq |
NP_055123
|
| HUGO |
HGNC:30035
|
| OMIM |
611317
|
| CCDS |
CCDS11147
|
| HPRD |
11433
|
| IMGT |
|
| EMBL |
AB028925
AC002091
AC003695
AF128881
AY725851
AY725852
AY725853
AY725854
BC028212
CH471108
EU332864
JX512456
|
| GenPept |
AAD33397
AAH28212
AAW63121
AAW63122
AAW63123
AAW63124
ABY87553
AGC09603
BAB82464
EAW90035
EAW90036
|
|
|
|