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Results for the Protein: O60890
21759325

OPHN1_HUMAN RecName: Full=Oligophrenin-1

Known Diseases associated with this Protein:
  FACIAL APPEARANCE
  MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE
1
4
1
1
3
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:

BAR_ACAP3 - cd07637
BAR_ACAP2 - cd07638
BAR_RhoGAP_OPHN1-lik - cd07602
BAR_GRAF2 - cd07635
BAR_GRAF - cd07636
BAR_OPHN1 - cd07633
BAR_GAP10-like - cd07634
BAR_ACAPs - cd07603
BAR - cd07307
PH - smart00233
PH - pfam00169
PH_AGAP - cd01250
BAR-PH_GRAF_family - cd01249
PH-like - cd00900
PH - cd00821
RhoGAP_fSAC7_BAG7 - cd04396
RhoGAP_Graf - cd04374
RhoGAP_nadrin - cd04386
RhoGAP_FAM13A1a - cd04393
RhoGAP-ARHGAP11A - cd04394
RhoGAP_ARHGAP18 - cd04391
RhoGAP_fBEM3 - cd04400
RhoGAP_ARHGAP27_15_1 - cd04403
RhoGAP_PARG1 - cd04409
RhoGAP_GMIP - cd04408
RhoGAP_fRGD1 - cd04398
RhoGAP_chimaerin - cd04372
RhoGAP_KIAA1688 - cd04389
RhoGAP_Bcr - cd04387
RhoGAP_myosin_IXB - cd04407
RhoGAP_ARAP - cd04385
RhoGAP_srGAP - cd04383
RhoGAP_ARHGAP21 - cd04395
RhoGAP_fLRG1 - cd04397
RhoGAP-p50rhoGAP - cd04404
RhoGAP_GMIP_PARG1 - cd04378
RhoGAP_CdGAP - cd04384
RhoGAP_ARHGAP22_24_2 - cd04390
RhoGAP_MgcRacGAP - cd04382
RhoGAP_p190 - cd04373
RhoGAP_ARHGAP19 - cd04392
RhoGAP_SYD1 - cd04379
RhoGAP_myosin_IXA - cd04406
RhoGAP_ARHGAP20 - cd04402
RhoGAP_ARHGAP6 - cd04376
RhoGAP - smart00324
RhoGAP_p85 - cd04388
RhoGAP_myosin_IX - cd04377
RhoGAP - cd00159
RhoGAP - pfam00620
RhoGap_RalBP1 - cd04381


Swiss-Prot Protein: O60890
Identical to: NP_002538
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BAR_RhoGAP_OPHN1-likcd076021.9e-13419225
BAR_ACAPscd076038.1e-0819225
BAR_OPHN1cd076331.1e-16419225
BAR_GAP10-likecd076346.6e-10319225
BAR_GRAF2cd076351.1e-8419225
BAR_GRAFcd076361.1e-7519225
BAR_ACAP3cd076372.7e-0719225
BAR_ACAP2cd076380.0005619225
BARcd073076.1e-3228224
PHcd008213.2e-09268366
PH-likecd009008.2e-07268366
BAR-PH_GRAF_familycd012492.3e-77268366
PH_AGAPcd012500.00075268366
RhoGAP_fSAC7_BAG7cd043961.9e-05349564
RhoGAP_Grafcd043741.2e-153363559
RhoGAP_nadrincd043864.1e-11366568
RhoGAP_FAM13A1acd043935.2e-07368559
RhoGAP_ARHGAP18cd043913.4e-07369585
RhoGAP-ARHGAP11Acd043941.3e-07369573
RhoGAP_fBEM3cd044004e-09369555
RhoGAP_chimaerincd043721.1e-25370564
RhoGAP_Bcrcd043879.3e-11370559
RhoGAP_KIAA1688cd043891.6e-05370559
RhoGAP_fRGD1cd043987.7e-20370564
RhoGAP_ARHGAP27_15_1cd044032.3e-27370559
RhoGAP_GMIPcd044088e-17370559
RhoGAP_PARG1cd044093e-21370559
RhoGAP_ARAPcd043853e-18371560
RhoGAP_myosin_IXBcd044075e-17371559
RhoGAP_srGAPcd043833.9e-10373558
RhoGAP_ARHGAP21cd043952.7e-13373560
RhoGAP_fLRG1cd043970.00012374570
RhoGAP-p50rhoGAPcd044043.8e-14374564
RhoGAP_GMIP_PARG1cd043782.2e-22375559
RhoGAP_CdGAPcd043841.1e-18376559
RhoGAP_MgcRacGAPcd043821.4e-13377561
RhoGAP_ARHGAP22_24_2cd043909.4e-12377564
RhoGAP_p190cd043732.7e-13378559
RhoGAP_ARHGAP19cd043922.1e-06378573
RhoGAP_SYD1cd043791.6e-09380561
RhoGAP_myosin_IXAcd044069.5e-09380558
RhoGAP_ARHGAP6cd043762.3e-09381570
RhoGAP_ARHGAP20cd044021.4e-05381572
RhoGAP_p85cd043883.1e-07384579
RhoGAP_myosin_IXcd043771.2e-10386559
RhoGAPcd001593.8e-55387559
RhoGap_RalBP1cd043819.7e-08390551
PHpfam001693.6e-05266368
RhoGAPpfam006201.4e-47388542
PHsmart002337e-08266368
RhoGAPsmart003242.1e-66384560

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013638Polymorphismp.ALA45THRN/A
Swiss-ProtVAR_033452Polymorphismp.MET693ILEN/A
Swiss-ProtVAR_013639Polymorphismp.THR301METN/A
dbSNPrs41303733 Polymorphismp.VAL39ILEN/A
OMIM300127.0003 Diseasep.GLN62TERMENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE||FACIAL APPEARANCE



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