InnateDB Protein
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IDBP-92168.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RIMS1
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Protein Name
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regulating synaptic membrane exocytosis 1
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Synonyms
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CORD7; RAB3IP2; RIM; RIM1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359448
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InnateDB Gene
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IDBG-92166 (RIMS1)
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Protein Structure
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Function |
Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short- term synaptic plasticity (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
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Disease Associations |
Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Detected in brain and retina.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
18
[view]
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Protein-Protein |
18
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000008
C2 domain
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PFAM |
PF00168
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PRINTS |
PR00360
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PIRSF |
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SMART |
SM00239
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TIGRFAMs |
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Modification |
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SwissProt |
Q86UR5
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PhosphoSite |
PhosphoSite-Q86UR5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
22999
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UniGene |
Hs.608538
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RefSeq |
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HUGO |
HGNC:17282
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OMIM |
606629
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CCDS |
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HPRD |
09435
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IMGT |
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EMBL |
AB002338
AB045726
AB051866
AF263305
AF263306
AF263307
AF263308
AF263309
AF263310
AK294868
AK295001
AK296303
AK300853
AK309185
AL034373
AL035633
AL160405
AL390056
AL445256
AL590011
AY190519
BC151853
BC152435
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GenPept |
AAG23162
AAG23163
AAG23164
AAG23165
AAG23166
AAG23167
AAI51854
AAI52436
AAO38848
BAA20798
BAB87121
BAB87242
BAH11906
BAH11945
BAH12309
BAH13358
CAI16961
CAI20558
CAI21554
CAI39598
CAI39600
CAI39604
CAI42135
CAI42139
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