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Results for the Protein: NP_001159451
260166694

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  NEPHROTIC SYNDROME, TYPE 3
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6
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6
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

RasGEF - cd00155
RasGEF - pfam00617
RasGEF - smart00147
PI-PLCc_delta3 - cd08630
PI-PLCc_delta1 - cd08629
PI-PLCc_delta4 - cd08631
PI-PLCc_eta2 - cd08633
PI-PLCc_beta4 - cd08626
PI-PLCc_gamma2 - cd08628
PI-PLCc_eta1 - cd08632
PI-PLCc_beta2 - cd08624
PI-PLCc_beta3 - cd08625
PI-PLCc_beta - cd08591
PI-PLCc_eukaryota - cd08558
PI-PLCc - cd00137
PI-PLCc_epsilon - cd08596
PI-PLCc_zeta - cd08595
PI-PLCc_plant - cd08599
PI-PLCc_beta1 - cd08623
PI-PLCc_gamma - cd08592
PI-PLC1c_yeast - cd08598
PI-PLCc_gamma1 - cd08627
PLCXc - smart00148
PI-PLC-X - pfam00388
PI-PLCc_PRIP_metazoa - cd08597
PI-PLCc_delta - cd08593
PI-PLCc_eta - cd08594
PI-PLCc_GDPD_SF - cd08555
PLCYc - smart00149
PI-PLC-Y - pfam00387
C2_PLC_like - cd00275
C2 - smart00239
C2 - cd00030
C2 - pfam00168
RA - smart00314
PLC_epsilon_RA - cd01780
RA - pfam00788
RA - cd01768




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PI-PLCccd001372.4e-3210831525
PI-PLCc_eukaryotacd085581.8e-17810831525
PI-PLCc_betacd085911.5e-7510831525
PI-PLCc_zetacd085957.7e-5510831525
PI-PLCc_epsiloncd0859610831525
PI-PLCc_plantcd085994.6e-2710831525
PI-PLCc_gammacd085923.8e-1210831812
PI-PLC1c_yeastcd085985.9e-7610831525
PI-PLCc_beta1cd086238e-5510831525
PI-PLCc_beta3cd086253.5e-5310831525
PI-PLCc_beta4cd086261.6e-5710831525
PI-PLCc_delta1cd086291.8e-5210831525
PI-PLCc_delta3cd086308.6e-5510831525
PI-PLCc_delta4cd086312e-5410831525
PI-PLCc_eta1cd086324.9e-5910831525
PI-PLCc_gamma2cd086286.3e-0910831525
PI-PLCc_eta2cd086339.5e-4810831525
PI-PLCc_beta2cd086245.8e-5710831525
PI-PLCc_gamma1cd086272e-0610841852
PI-PLCc_PRIP_metazoacd085972.7e-6010891525
PI-PLCc_deltacd085931.2e-8210891525
PI-PLCc_etacd085941.1e-6110891525
PI-PLCc_GDPD_SFcd085552.7e-1310961345
C2_PLC_likecd002756.6e-4115601680
C2cd000301.5e-0515631663
PLC_epsilon_RAcd017806.5e-7518291928
RAcd017682e-2518301928
RasGEFpfam006173.1e-18220458
PI-PLC-Xpfam003882.7e-8810861233
PI-PLC-Ypfam003876.9e-4214261538
C2pfam001684.3e-0915631645
RApfam007882.2e-3118301930
RasGEFsmart001475.5e-08220523
PLCXcsmart001481.5e-7510841222
PLCYcsmart001491.1e-4514251537
C2smart002392.4e-1215621660
RAsmart003143.5e-0518271929

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17417407 Polymorphismp.ARG240LEUN/A
dbSNPrs2274224 Polymorphismp.ARG1267PRON/A
dbSNPrs2274223 Polymorphismp.HIS1619ARGN/A
dbSNPrs58539480 Polymorphismp.PRO1582LEUN/A
dbSNPrs17508082 Polymorphismp.SER161THRN/A
dbSNPrs3765524 Polymorphismp.THR1469ILEN/A
OMIM608414.0008 Diseasep.ARG1842TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0002 Diseasep.ARG185TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0003 Diseasep.ARG808TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0010 Diseasep.ARG938TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0005 Diseasep.GLN1308TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0006 Diseasep.GLN1546TERNEPHROTIC SYNDROME, TYPE 3
OMIM608414.0007 Diseasep.SER1176LEUNEPHROTIC SYNDROME, TYPE 3



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