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Results for the Protein: P27986
118572681

P85A_HUMAN RecName: Full=Phosphatidylinositol 3-kinase regulatory subunit alpha; Short=PI3-kinase regulatory subunit alpha; Short=PI3K regulatory subunit alpha; Short=PtdIns-3-kinase regulatory subunit alpha; AltName: Full=Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; Short=PI3-kinase subunit p85-alpha; Short=PtdIns-3-kinase regulatory subunit p85-alpha

Known Diseases associated with this Protein:
  AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (1 FAMILY)
  SHORT SYNDROME
  SHORT SYNDROME (SHORTS)
5
3
3
0
5
Tips:
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Default View:

SH3 - smart00326
SH3 - cd00174
RhoGAP_Graf - cd04374
RhoGAP_ARAP - cd04385
RhoGAP_nadrin - cd04386
RhoGAP_CdGAP - cd04384
RhoGAP_ARHGAP22_24_2 - cd04390
RhoGAP_myosin_IXB - cd04407
RhoGAP_GMIP - cd04408
RhoGAP_SYD1 - cd04379
RhoGAP_MgcRacGAP - cd04382
RhoGAP_FAM13A1a - cd04393
RhoGAP_ARHGAP27_15_1 - cd04403
RhoGAP_p85 - cd04388
RhoGAP_Bcr - cd04387
RhoGAP_fRGD1 - cd04398
RhoGAP_GMIP_PARG1 - cd04378
RhoGAP_myosin_IX - cd04377
RhoGAP_PARG1 - cd04409
RhoGAP_p190 - cd04373
RhoGAP_myosin_IXA - cd04406
RhoGAP_ARHGAP21 - cd04395
RhoGAP_chimaerin - cd04372
RhoGAP_ARHGAP20 - cd04402
RhoGAP_ARHGAP6 - cd04376
RhoGAP - smart00324
RhoGAP - pfam00620
RhoGAP - cd00159
SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017


Swiss-Prot Protein: P27986
Identical to: NP_852664
   Default View:




























Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3cd001744.6e-17776
RhoGAP_Grafcd043740.0004793296
RhoGAP_ARAPcd043853.2e-08104297
RhoGAP_CdGAPcd043843.3e-06109296
RhoGAP_nadrincd043865.2e-06109298
RhoGAP_ARHGAP22_24_2cd043901.1e-06111301
RhoGAP_myosin_IXBcd044071.2e-06112302
RhoGAP_SYD1cd043792.7e-06113299
RhoGAP_MgcRacGAPcd043821.1e-08113298
RhoGAP_FAM13A1acd043931.9e-06113296
RhoGAP_GMIPcd044082.1e-06113296
RhoGAP_p85cd043883.6e-153114313
RhoGAP_ARHGAP27_15_1cd044038.5e-09114296
RhoGAP_Bcrcd043879.7e-05116298
RhoGAP_GMIP_PARG1cd043783.7e-09117296
RhoGAP_myosin_IXcd043778.3e-07117296
RhoGAP_fRGD1cd043986.8e-09117301
RhoGAP_p190cd043732.4e-09118296
RhoGAP_PARG1cd044091.2e-06118296
RhoGAP_ARHGAP21cd043953.4e-07120300
RhoGAP_myosin_IXAcd044067.7e-09120297
RhoGAP_chimaerincd043726.1e-07123301
RhoGAP_ARHGAP20cd044020.0002125296
RhoGAP_ARHGAP6cd043760.001126307
RhoGAPcd001592e-42129296
SH2cd001731.5e-31332428
SH2cd001731.2e-30623718
RhoGAPpfam006205e-37129281
SH2pfam000171.9e-23333408
SH2pfam000173.9e-31624698
SH3smart003267.4e-18477
RhoGAPsmart003249.1e-47126297
SH2smart002521.1e-28331414
SH2smart002522.3e-24622704

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010024Polymorphismp.ARG409GLNN/A
Swiss-ProtVAR_070223Diseasep.ARG649TRPSHORT syndrome (SHORTS)
Swiss-ProtVAR_029562Polymorphismp.GLU451LYSN/A
Swiss-ProtVAR_070221Diseasep.GLU489LYSSHORT syndrome (SHORTS)
Swiss-ProtVAR_010023Polymorphismp.MET326ILEN/A
OMIM171833.0004 Diseasep.ARG649TRPSHORT SYNDROME
OMIM171833.0003 Diseasep.GLU489LYSSHORT SYNDROME
OMIM171833.0001 Diseasep.TRP298TERAGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (1 family)



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