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Results for the Protein: P42336
126302584

PK3CA_HUMAN RecName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; Short=PI3-kinase subunit alpha; Short=PI3K-alpha; Short=PI3Kalpha; Short=PtdIns-3-kinase subunit alpha; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha; Short=PtdIns-3-kinase subunit p110-alpha; Short=p110alpha; AltName: Full=Phosphoinositide-3-kinase catalytic alpha polypeptide; AltName: Full=Serine/threonine protein kinase PIK3CA

Known Diseases associated with this Protein:
  BREAST CANCER, SOMATIC
  COLORECTAL CANCER, SOMATIC
  COLORECTAL CANCER, SOMATIC, INCLUDED
  COLORECTAL CANCER, SOMATIC, INCLUDED;;
  CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL
  CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (CLOVE)
  COWDEN DISEASE 5
  GASTRIC
  HEPATOCELLULAR CARCINOMA, SOMATIC
  KERATOSIS, SEBORRHEIC (KERSEB)
  MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (MCAP)
  MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
  NEVI, SOMATIC
  NEVI, SOMATIC, INCLUDED
  NEVUS, EPIDERMAL, SOMATIC, INCLUDED
  OVARIAN CANCER, EPITHELIAL, SOMATIC
  OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;
36
29
18
1
46
Tips:
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Default View:

PI3K_p85B - pfam02192
PI3K_p85B - smart00143
PI3K_rbd - pfam00794
PI3K_rbd - smart00144
PI3K_C2 - smart00142
C2_PI3K_class_I_gamm - cd08399
C2_PI3K_class_III - cd08397
C2_PI3K_like - cd08380
C2A_PI3K_class_II - cd04012
C2_PI3K_class_I_beta - cd08693
C2_PI3K_class_I_alph - cd08398
PI3K_C2 - pfam00792
PI3Ka - pfam00613
PI3Ka_III - cd00870
PI3Ka - smart00145
PI3Ka_II - cd00869
PI3Ka - cd00864
PI3Ka_I - cd00872
PI3Kc_I - cd05165
PI3Kc_III - cd00896
PI3Kc_IB_gamma - cd00894
PI3Kc - cd00891
PI3Kc_II - cd05166
PI3Kc_IA_beta - cd05173
PI3Kc_IA_alpha - cd05175
PI3Kc_IA_delta - cd05174
PI3Kc_C2_beta - cd00895
PI3Kc_C2_alpha - cd05176
PI3Kc_C2_gamma - cd05177
PI4Kc_III_alpha - cd05167
PI3Kc_like - cd00142
PI4Kc_III - cd00893
PIKKc_ATR - cd00892
PIKKc - cd05164
PIKKc_DNA-PK - cd05172
PIKKc_ATM - cd05171
PI4Kc_III_beta - cd05168
PIKKc_TOR - cd05169
PI3_PI4_kinase - pfam00454
PI3Kc - smart00146


Swiss-Prot Protein: P42336
Identical to: NP_006209
   Default View:
























Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C2_PI3K_class_IIIcd083970.00072323457
C2_PI3K_class_I_gammcd083996.9e-08323484
C2A_PI3K_class_IIcd040125e-07325487
C2_PI3K_likecd083807.2e-66325484
C2_PI3K_class_I_alphcd083982.4e-135325484
C2_PI3K_class_I_betacd086936.5e-42325483
PI3Ka_IIIcd008702.6e-15520677
PI3Kacd008644e-82525677
PI3Ka_IIcd008694.5e-37525692
PI3Ka_Icd008721.4e-132525696
PI3Kccd008916.1e-2246991064
PI3Kc_IB_gammacd008946.5e-1176991064
PI3Kc_IIIcd008962.6e-206991051
PI3Kc_Icd051651.6e-2876991064
PI3Kc_IIcd051662.7e-966991064
PI3Kc_IA_betacd051735.5e-1346991065
PI3Kc_IA_deltacd051744.3e-1306991064
PI3Kc_IA_alphacd051756991064
PI3Kc_C2_betacd008955.1e-777001064
PI3Kc_C2_alphacd051764.1e-777031064
PI3Kc_C2_gammacd051773.4e-707031064
PI4Kc_III_alphacd051672.8e-237541059
PI3Kc_likecd001421.2e-1097621008
PI4Kc_IIIcd008938.2e-327621067
PIKKc_ATRcd008923e-06766979
PIKKccd051647.6e-087671008
PIKKc_DNA-PKcd051720.00022767993
PIKKc_ATMcd051712.2e-087801004
PI4Kc_III_betacd051681.8e-157871055
PIKKc_TORcd051692.3e-057941006
PI3K_p85Bpfam021922.5e-4331108
PI3K_rbdpfam007943.3e-56173292
PI3K_C2pfam007926.9e-45350485
PI3Kapfam006131.5e-110519704
PI3_PI4_kinasepfam004541.5e-957961015
PI3K_p85Bsmart001433.8e-4931108
PI3K_rbdsmart001449.9e-56173292
PI3K_C2smart001421.7e-35322418
PI3Kasmart001459.9e-100521704
PI3Kcsmart001462.7e-1157981022

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026189Diseasep.ALA1035VALMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026187Polymorphismp.ARG1023GLNN/A
Swiss-ProtVAR_026167Diseasep.ARG88GLNMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026166Polymorphismp.ARG38HISN/A
Swiss-ProtVAR_069790Polymorphismp.ARG382LYSN/A
Swiss-ProtVAR_026171Diseasep.CYS420ARGCongenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE)
Swiss-ProtVAR_069254Diseasep.CYS378TYRMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026182Polymorphismp.GLN546ARGN/A
Swiss-ProtVAR_026179Polymorphismp.GLN546GLUN/A
Swiss-ProtVAR_026180Polymorphismp.GLN546LYSN/A
Swiss-ProtVAR_026181Polymorphismp.GLN546PRON/A
Swiss-ProtVAR_026176Polymorphismp.GLU545ALAN/A
Swiss-ProtVAR_026172Polymorphismp.GLU453GLNN/A
Swiss-ProtVAR_026174Polymorphismp.GLU542GLNN/A
Swiss-ProtVAR_026177Diseasep.GLU545GLYKeratosis, seborrheic (KERSEB)
Swiss-ProtVAR_069787Polymorphismp.GLU135LYSN/A
Swiss-ProtVAR_069788Polymorphismp.GLU218LYSN/A
Swiss-ProtVAR_069253Diseasep.GLU365LYSMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026173Diseasep.GLU542LYSKeratosis, seborrheic (KERSEB)
Swiss-ProtVAR_026178Diseasep.GLU545LYSMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_069256Diseasep.GLU726LYSMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_069251Diseasep.GLU81LYSMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026175Polymorphismp.GLU542VALN/A
Swiss-ProtVAR_026183Polymorphismp.GLY1007ARGN/A
Swiss-ProtVAR_069252Diseasep.GLY364ARGMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_069257Diseasep.GLY914ARGMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026194Polymorphismp.GLY1050ASPN/A
Swiss-ProtVAR_069786Polymorphismp.GLY118ASPN/A
Swiss-ProtVAR_069259Diseasep.GLY1049SERMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026168Polymorphismp.GLY106VALN/A
Swiss-ProtVAR_026192Diseasep.HIS1047ARGKeratosis, seborrheic (KERSEB)
Swiss-ProtVAR_026191Polymorphismp.HIS1047LEUN/A
Swiss-ProtVAR_026196Polymorphismp.HIS1065LEUN/A
Swiss-ProtVAR_026193Diseasep.HIS1047TYRMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026197Polymorphismp.HIS1065TYRN/A
dbSNPrs3729680 Polymorphismp.ILE391METN/A
Swiss-ProtVAR_042942Polymorphismp.ILE43VALN/A
Swiss-ProtVAR_026190Diseasep.MET1043ILEMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_042943Polymorphismp.SER332ARGN/A
Swiss-ProtVAR_069258Diseasep.THR1025ALAMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026188Polymorphismp.THR1025ASNN/A
Swiss-ProtVAR_026195Polymorphismp.THR1052LYSN/A
Swiss-ProtVAR_026186Polymorphismp.TYR1021ASNN/A
Swiss-ProtVAR_026184Diseasep.TYR1021CYSMegalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-ProtVAR_026169Polymorphismp.TYR343CYSN/A
Swiss-ProtVAR_026185Polymorphismp.TYR1021HISN/A
Swiss-ProtVAR_069789Polymorphismp.VAL356ILEN/A
OMIM171834.0019 Diseasep.ARG382LYSCOWDEN DISEASE 5
OMIM171834.0010 Diseasep.CYS420ARGCONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC
OMIM171834.0012 Diseasep.CYS378TYRMEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM171834.0006 Diseasep.GLN546GLUBREAST CANCER, SOMATIC
OMIM171834.0005 Diseasep.GLN546LYSOVARIAN CANCER, EPITHELIAL, SOMATIC||COLORECTAL CANCER, SOMATIC, INCLUDED
OMIM171834.0008 Diseasep.GLU545ALAHEPATOCELLULAR CARCINOMA, SOMATIC
OMIM171834.0004 Diseasep.GLU545GLYCOLORECTAL CANCER, SOMATIC||NEVUS, EPIDERMAL, SOMATIC, INCLUDED
OMIM171834.0016 Diseasep.GLU135LYSCOWDEN DISEASE 5
OMIM171834.0017 Diseasep.GLU218LYSCOWDEN DISEASE 5
OMIM171834.0009 Diseasep.GLU542LYSCONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC
OMIM171834.0003 Diseasep.GLU545LYSBREAST CANCER, SOMATIC||OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;||COLORECTAL CANCER, SOMATIC, INCLUDED;;||GASTRIC
OMIM171834.0011 Diseasep.GLY914ARGMEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM171834.0015 Diseasep.GLY118ASPCOWDEN DISEASE 5
OMIM171834.0001 Diseasep.HIS1047ARGBREAST CANCER, SOMATIC||OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;||COLORECTAL CANCER, SOMATIC, INCLUDED;;||GASTRIC
OMIM171834.0002 Diseasep.HIS1047LEUBREAST CANCER, SOMATIC||CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC, INCLUDED
OMIM171834.0013 Diseasep.HIS1047TYRMEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM171834.0021 Diseasep.LEU632TERCOWDEN DISEASE 5
OMIM171834.0018 Diseasep.VAL356ILECOWDEN DISEASE 5



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