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Results for the Protein:
Q86UR5
34395763
22999
RIMS1
NCBI
,
UniProt
RIMS1_HUMAN RecName: Full=Regulating synaptic membrane exocytosis protein 1; AltName: Full=Rab-3-interacting molecule 1; Short=RIM 1; AltName: Full=Rab-3-interacting protein 2
Known Diseases associated with this Protein:
CONE-ROD DYSTROPHY 7
CONE-ROD DYSTROPHY 7 (CORD7)
2
2
1
2
1
Tips:
The Domains on the Default View are decided by the Domain's E-Value.
Clicking a check box will display or hide the correlated domain.
To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.
Default View:
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
C2A_Synaptotagmin-7 - cd08386
C2A_RIM1alpha - cd04031
C2B_Synaptotagmin-7 - cd08405
C2A_SLP-3 - cd08392
C2A_SLP-4_5 - cd04029
C2B_PI3K_class_II - cd08381
C2B_SLP_1-2-3-4 - cd04020
C2B_Synaptotagmin-4 - cd08404
C2_RGS-like - cd08685
C2A_Synaptotagmin-15 - cd08390
C2A_SLP - cd08521
C2A_Rabphilin_Doc2 - cd04035
C2B_Synaptotagmin - cd00276
C2A_Synaptotagmin-4- - cd08388
C2_PKC_alpha_gamma - cd04026
C2C_KIAA1228 - cd04030
C2A_Synaptotagmin-1- - cd08385
C2B_Munc13-like - cd04009
C2A_SLP-1_2 - cd08393
C2B_Rabphilin_Doc2 - cd08384
C2B_RasA1_RasA4 - cd04025
C2 - smart00239
C2A_MCTP_PRT_plant - cd04022
C2 - pfam00168
C2 - cd00030
C2B_MCTP_PRT_plant - cd08378
C2B_RasGAP - cd08675
C2A_Synaptotagmin-li - cd04024
C2_Munc13_fungal - cd04043
C2B_RIM1alpha - cd04028
C2A_Synaptotagmin-8 - cd08387
C2B_Synaptotagmin-1 - cd08402
C2B_Synaptotagmin-12 - cd08406
C2B_Synaptotagmin-3- - cd08403
Swiss-Prot Protein:
Q86UR5
Identical to:
NP_055804
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
PDZ
cd00136
6e-07
614
690
C2A_RIM1alpha
cd04031
6.8e-83
742
868
C2A_Synaptotagmin-7
cd08386
4.6e-07
742
869
C2B_SLP_1-2-3-4
cd04020
1.8e-10
743
878
C2A_SLP-4_5
cd04029
1.4e-07
743
878
C2B_PI3K_class_II
cd08381
3.9e-15
743
868
C2A_SLP-3
cd08392
7.6e-09
743
868
C2B_Synaptotagmin-7
cd08405
0.00049
743
868
C2B_Synaptotagmin
cd00276
6.4e-07
744
867
C2B_Munc13-like
cd04009
4e-05
744
879
C2_PKC_alpha_gamma
cd04026
6.2e-11
744
876
C2C_KIAA1228
cd04030
6.8e-12
744
868
C2A_Rabphilin_Doc2
cd04035
5.6e-11
744
858
C2A_Synaptotagmin-1-
cd08385
3.8e-08
744
869
C2A_Synaptotagmin-4-
cd08388
7.8e-05
744
851
C2A_Synaptotagmin-15
cd08390
2.5e-08
744
869
C2B_Synaptotagmin-4
cd08404
0.00037
744
868
C2A_SLP
cd08521
8.2e-13
744
867
C2_RGS-like
cd08685
3.3e-05
744
867
C2B_Rabphilin_Doc2
cd08384
2e-07
745
867
C2A_SLP-1_2
cd08393
6.6e-10
745
868
C2A_MCTP_PRT_plant
cd04022
8.6e-05
758
878
C2B_RasA1_RasA4
cd04025
0.0008
758
901
C2
cd00030
6e-22
759
867
C2A_Synaptotagmin-li
cd04024
0.00068
759
902
C2B_MCTP_PRT_plant
cd08378
0.00013
759
871
C2B_RasGAP
cd08675
5.8e-05
759
875
C2_Munc13_fungal
cd04043
0.00074
761
871
C2B_RIM1alpha
cd04028
2.4e-120
1523
1668
C2A_RIM1alpha
cd04031
7.3e-08
1536
1659
C2A_Synaptotagmin-8
cd08387
1.2e-05
1536
1660
C2C_KIAA1228
cd04030
2e-08
1538
1659
C2A_Synaptotagmin-1-
cd08385
1e-05
1538
1660
C2A_Synaptotagmin-7
cd08386
3.6e-05
1538
1660
C2B_PI3K_class_II
cd08381
5.8e-11
1539
1659
C2A_SLP-3
cd08392
3.5e-07
1539
1659
C2B_Synaptotagmin-1
cd08402
7.6e-06
1539
1659
C2B_Synaptotagmin-12
cd08406
0.00098
1539
1659
C2B_Synaptotagmin
cd00276
9.4e-08
1540
1658
C2_PKC_alpha_gamma
cd04026
5.6e-08
1540
1660
C2B_Synaptotagmin-3-
cd08403
3.7e-05
1540
1658
C2A_SLP
cd08521
2.8e-09
1540
1658
C2
cd00030
3.2e-18
1553
1658
PDZ
pfam00595
7.9e-10
605
690
C2
pfam00168
6.3e-26
759
850
C2
pfam00168
1e-21
1553
1640
PDZ
smart00228
6.3e-17
602
693
C2
smart00239
1e-26
758
865
C2
smart00239
2.3e-18
1552
1655
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_016804
Disease
p.ARG820HIS
Cone-rod dystrophy 7 (CORD7)
dbSNP
rs79168210
Polymorphism
p.PHE1516LEU
N/A
dbSNP
rs116476753
Polymorphism
p.SER248LEU
N/A
OMIM
606629.0001
Disease
p.ARG820HIS
CONE-ROD DYSTROPHY 7
Please Cite:
Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu
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