PIK3R1
entrez
5295
canonical
uniprot
P27986
canonical
ensembl
ENSG00000145675
resolver
ensp
ENSP00000323512
resolver
ensp
ENSP00000338554
resolver
ensp
ENSP00000428056
resolver
ensp
ENSP00000429277
resolver
ensp
ENSP00000430098
resolver
ensp
ENSP00000513316
resolver
ensp
ENSP00000513318
resolver
ensp
ENSP00000513333
resolver
genesymbol
PIK3R1
resolver
genesymbol_syn
GRB1
resolver
hgnc
HGNC:8979
resolver
uniprot
B3KT19
resolver
uniprot
D3DWA0
resolver
uniprot
E7EX19
resolver
uniprot
Q15747
resolver
uniprot
Q4VBZ7
resolver
uniprot
Q53EM6
resolver
uniprot
Q8IXA2
resolver
uniprot
Q8N1C5
resolver
uniprot_entry
P85A_HUMAN
resolver
uniprot_sec
B3KT19
resolver
uniprot_sec
D3DWA0
resolver
uniprot_sec
E7EX19
resolver
uniprot_sec
Q15747
resolver
uniprot_sec
Q4VBZ7
resolver
uniprot_sec
Q53EM6
resolver
uniprot_sec
Q8IXA2
resolver
uniprot_sec
Q8N1C5
resolver
amino_acid_sequence
MSAEGYQYRALYDYKKEREEDIDLHLGDILTVNKGSLVALGFSDGQEARPEEIGWLNGYNETTGERGDFPGTYVEYIGRKKISPPTPKPRPPRPLPVAPGSSKTEADVEQQALTLPDLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEMISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILISTEWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHRDGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKTATGYGFAEPYNLYSSLKELVLHYQHTSLVQHNDSLNVTLAYPVYAQQRR
uniprot
proteins
disease_involvement
DISEASE: Agammaglobulinemia 7, autosomal recessive (AGM7) [MIM:615214]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:22351933}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: SHORT syndrome (SHORTS) [MIM:269880]: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. {ECO:0000269|PubMed:23810378, ECO:0000269|PubMed:23810379, ECO:0000269|PubMed:23810382}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency 36 with lymphoproliferation (IMD36) [MIM:616005]: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. {ECO:0000269|PubMed:25133428}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923). {ECO:0000269|PubMed:17626883, ECO:0000269|PubMed:19805105, ECO:0000269|PubMed:20348923, ECO:0000269|PubMed:7518429}.
uniprot
proteins
mass_dalton
83598
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated in T-cells by CBLB; which does not promote proteasomal degradation but impairs association with CD28 and CD3Z upon T-cell activation. {ECO:0000269|PubMed:11087752, ECO:0000269|PubMed:11526404}.; PTM: In adipose tissue, polyubiquitinated by the BCR(KBTBD2) E3 ubiquitin ligase complex; recognized by KBTBD2 through the SH2 domains, undergoes 'Lys-48'-linked polyubiquitination leading to its degradation. {ECO:0000269|PubMed:27708159}.; PTM: Phosphorylated. Tyrosine phosphorylated in response to signaling by FGFR1, FGFR2, FGFR3 and FGFR4. Phosphorylated by CSF1R. Phosphorylated by ERBB4. Phosphorylated on tyrosine residues by TEK/TIE2. Dephosphorylated by PTPRJ. Phosphorylated by PIK3CA at Ser-608; phosphorylation is stimulated by insulin and PDGF. The relevance of phosphorylation by PIK3CA is however unclear (By similarity). Phosphorylated in response to KIT and KITLG/SCF. Phosphorylated by FGR. {ECO:0000250, ECO:0000269|PubMed:15561106, ECO:0000269|PubMed:18348712}.
uniprot
proteins
protein_family
PI3K p85 subunit family
uniprot
proteins
pubmed
10086340
uniprot
proteins
pubmed
10528161
uniprot
proteins
pubmed
10739672
uniprot
proteins
pubmed
10768093
uniprot
proteins
pubmed
10867024
uniprot
proteins
pubmed
10995743
uniprot
proteins
pubmed
11087752
uniprot
proteins
pubmed
11526404
uniprot
proteins
pubmed
11567151
uniprot
proteins
pubmed
11912194
uniprot
proteins
pubmed
12009866
uniprot
proteins
pubmed
12186904
uniprot
proteins
pubmed
12359715
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15302586
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15488758
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15526160
uniprot
proteins
pubmed
15561106
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15863030
uniprot
proteins
pubmed
17626883
uniprot
proteins
pubmed
18079394
uniprot
proteins
pubmed
18348712
uniprot
proteins
pubmed
1849461
uniprot
proteins
pubmed
18721752
uniprot
proteins
pubmed
19109239
uniprot
proteins
pubmed
19286672
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19805105
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
19919182
uniprot
proteins
pubmed
20348923
uniprot
proteins
pubmed
21200133
uniprot
proteins
pubmed
21228233
uniprot
proteins
pubmed
21954290
uniprot
proteins
pubmed
22351933
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23192871
uniprot
proteins
pubmed
23676467
uniprot
proteins
pubmed
23810378
uniprot
proteins
pubmed
23810379
uniprot
proteins
pubmed
23810382
uniprot
proteins
pubmed
25133428
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27109099
uniprot
proteins
pubmed
27708159
uniprot
proteins
pubmed
28903391
uniprot
proteins
pubmed
28955049
uniprot
proteins
pubmed
30523347
uniprot
proteins
pubmed
32606397
uniprot
proteins
pubmed
7518429
uniprot
proteins
pubmed
7537849
uniprot
proteins
pubmed
7541045
uniprot
proteins
pubmed
7568038
uniprot
proteins
pubmed
7681364
uniprot
proteins
pubmed
7692233
uniprot
proteins
pubmed
8276809
uniprot
proteins
pubmed
8599763
uniprot
proteins
pubmed
8628286
uniprot
proteins
pubmed
8648629
uniprot
proteins
pubmed
8670861
uniprot
proteins
pubmed
8940081
uniprot
proteins
pubmed
8961927
uniprot
proteins
pubmed
8962058
uniprot
proteins
pubmed
9032108
uniprot
proteins
pubmed
9038210
uniprot
proteins
pubmed
9178760
uniprot
proteins
pubmed
9489702
uniprot
proteins
pubmed
9553137
uniprot
proteins
pubmed
9687533
uniprot
proteins
sequence_length
724
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32606397}.
uniprot
proteins