P85A_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PIK3R1
, GRB1
Protein names and data:
P85A_HUMAN
, Phosphatidylinositol 3-kinase regulatory subunit alpha; PI3-kinase regulatory subunit alpha; PI3K regulatory subunit alpha; PtdIns-3-kinase regulatory subunit alpha
, Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; PI3-kinase subunit p85-alpha; PtdIns-3-kinase regulatory subunit p85-alpha
Lenght: 724 a.a.
Mass: 83598 Da
fasta formatted sequence
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.
Disease:
( OMIM:
171833
269880
615214
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Isoform 2 is expressed in skeletal muscle and brain, and at lower levels in kidney and cardiac muscle. Isoform 2 and isoform 4 are present in skeletal muscle (at protein level).
Genetic variants
326 - 326
M -> I (does not affect insulin- stimulated lipid kinase activity; dbSNP:rs3730089). VAR_010023
3730089
409 - 409
R -> Q (in a patient with severe insulin resistance; lower insulin-stimulated lipid kinase activity compared with wild- type). VAR_010024
451 - 451
E -> K (in dbSNP:rs17852841). VAR_029562
17852841
489 - 489
E -> K (in SHORTS; there is 70 to 90% reduction in the effect of insulin on AKT1 activation, glycogen synthesis and glucose uptake, indicating severe insulin resistance for both proximal and distal PI3K-dependent signaling). VAR_070221
539 - 539
Missing (in SHORTS; there is 70 to 90% reduction in the effect of insulin on AKT1 activation, glycogen synthesis and glucose uptake, indicating severe insulin resistance for both proximal and distal PI3K-dependent signaling). VAR_070222
649 - 649
R -> W (in SHORTS; impairs interaction between PIK3R1 and IRS1 and reduces AKT1- mediated insulin signaling). VAR_070223
Database cross-references
UniProt:
P27986
Ensembl:
ENST00000274335
Ensembl:
ENST00000320694
Ensembl:
ENST00000336483
Ensembl:
ENST00000396611
Ensembl:
ENST00000521381
Ensembl:
ENST00000521657
Ensembl:
ENST00000523872
MIM:
171833
MIM:
269880
MIM:
615214
neXtProt:
NX_P27986
Antibodypedia:
P27986
(may not find the protein thus also not any antibody)
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