Tag | Content |
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UniProt Accession | P85A_HUMAN; P27986; |
Entrez ID | 5295 |
GenBank Protein ID | NM_001242466.1; NM_181504.3; NM_181523.2; NM_181524.1; XM_005248542.3; XM_017009585.1; |
GenBank Nucleotide ID | NP_001229395.1; NP_852556.2; NP_852664.1; NP_852665.1; XP_005248599.1; XP_016865074.1; |
Protein Name | 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 |
Gene Name | PIK3R1; GRB1 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | 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). |
Sequence (Fasta) | MSAEGYQYRA LYDYKKEREE DIDLHLGDIL TVNKGSLVAL GFSDGQEARP EEIGWLNGYN 60 ETTGERGDFP GTYVEYIGRK KISPPTPKPR PPRPLPVAPG SSKTEADVEQ QALTLPDLAE 120 QFAPPDIAPP LLIKLVEAIE KKGLECSTLY RTQSSSNLAE LRQLLDCDTP SVDLEMIDVH 180 VLADAFKRYL LDLPNPVIPA AVYSEMISLA PEVQSSEEYI QLLKKLIRSP SIPHQYWLTL 240 QYLLKHFFKL SQTSSKNLLN ARVLSEIFSP MLFRFSAASS DNTENLIKVI EILISTEWNE 300 RQPAPALPPK PPKPTTVANN GMNNNMSLQD AEWYWGDISR EEVNEKLRDT ADGTFLVRDA 360 STKMHGDYTL TLRKGGNNKL IKIFHRDGKY GFSDPLTFSS VVELINHYRN ESLAQYNPKL 420 DVKLLYPVSK YQQDQVVKED NIEAVGKKLH EYNTQFQEKS REYDRLYEEY TRTSQEIQMK 480 RTAIEAFNET IKIFEEQCQT QERYSKEYIE KFKREGNEKE IQRIMHNYDK LKSRISEIID 540 SRRRLEEDLK KQAAEYREID KRMNSIKPDL IQLRKTRDQY LMWLTQKGVR QKKLNEWLGN 600 ENTEDQYSLV EDDEDLPHHD EKTWNVGSSN RNKAENLLRG KRDGTFLVRE SSKQGCYACS 660 VVVDGEVKHC VINKTATGYG FAEPYNLYSS LKELVLHYQH TSLVQHNDSL NVTLAYPVYA 720 QQRR 725 |
|
Database | Annotation |
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Cancer Gene Census | glioblastoma, ovarian, colorectal |
CTD (Curated) (count: 8) (view all) | OMIM:615214
; AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE MESH:D002051 ; Burkitt Lymphoma MESH:D002277 ; Carcinoma OMIM:616005 ; IMMUNODEFICIENCY 36 MESH:D007333 ; Insulin Resistance MESH:D015674 ; Mammary Neoplasms, Animal |
HGMD (count: 6) | CM080497; Colon cancer, incr. risk, association with; Missense/nonsense
CM000560; Insulin resistance, association with; Missense/nonsense CS065602; Increased BMI, association with; Splicing CS065603; Increased BMI, association with; Splicing CS035719; Diabetes, type 2, association with; Splicing CS065604; Increased BMI, association with; Splicing |
GWASdb (count: 6) | rs7701498; Insulin resistance; type 2 diabetes mellitus
rs921003; Insulin resistance; type 2 diabetes mellitus rs6449959; Insulin resistance; type 2 diabetes mellitus rs7709243; Attention deficit hyperactivity disorder; attention deficit hyperactivity disorder rs251409; Coronary artery calcification; coronary artery disease rs3815701; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension |
PTM | Modification Sites |
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Phosphorylation (count: 37) (view all) | 12 GYQYRALYDYKKERE dbPAF
147 EKKGLECSTLYRTQS dbPAF 148 KKGLECSTLYRTQSS dbPAF 152 ECSTLYRTQSSSNLA dbPAF 154 STLYRTQSSSNLAEL dbPAF 156 LYRTQSSSNLAELRQ dbPAF |
Acetylation (count: 4) | 419 SLAQYNPKLDVKLLY PLMD
519 FKREGNEKEIQRIMH PLMD 530 RIMHNYDKLKSRISE PLMD 668 VVVDGEVKHCVINKT PLMD |
Ubiquitination (count: 7) (view all) | 346 SREEVNEKLRDTADG PLMD
419 SLAQYNPKLDVKLLY PLMD 438 YQQDQVVKEDNIEAV PLMD 506 QTQERYSKEYIEKFK PLMD 550 RRLEEDLKKQAAEYR PLMD 567 DKRMNSIKPDLIQLR PLMD |
Malonylation (count: 1) | 633 VGSSNRNKAENLLRG PLMD |