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22999 RIMS1

22999

RIMS1

regulating synaptic membrane exocytosis 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition regulating synaptic membrane exocytosis 1

研究结论

Date Results Publications
2017-11-18 12:17:00 This is the first reported case of bilateral cystoid macular edema in association with the RIM1 mutation. Overall, our findings were more consistent with a phenotype of retinitis pigmentosa. 27176872
2017-08-19 10:54:00 The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism. 28011674
2017-06-10 10:17:00 Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47. 28377503
2012-04-07 10:55:00 Here, we report that, like Rab3A, RIM and Munc13 are present in human sperm and that they play a functional role in acrosomal exocytosis before the acrosomal calcium efflux 22248876
2011-07-02 11:23:00 a novel functional coupling between RIM1 and the L-type Ca(V) channels via the Ca(V)beta auxiliary subunit that contribute to determine insulin secretion. 21402706

名称对应

Type IDs
Synonymous CORD7, RAB3IP2, RIM, RIM1
Gene
UniProtKB-ID: RIMS1_HUMAN, B7Z9Z3_HUMAN, B7Z7W2_HUMAN, Q3ZCW0_HUMAN
UniprotKB: Q86UR5, B7Z9Z3, B7Z7W2, Q3ZCW0
UniParc: UPI00001C0385, UPI0001BE8157, UPI0001914D79, UPI00005A8A38, UPI0001915299, UPI00001C0383, UPI00001C0384, UPI0001BE8156, UPI0000E0A2FF, UPI0000470171, UPI00019153FD, UPI0000470172, UPI00001908FB, UPI00001C0387, UPI00001C0386, UPI0001BE8158
EMBL: AL390056, AK309185, AK296303, AK294868, AB051866, AF263305, AL034373, AL445256, AL035633, BC036608, AK302571, AL590011, AF263306, AB045726, AK300853, AF263310, AY190519, AF263309, BC151853, AK316108, AF263308, BC152435, AB002338, AF263307, AL160405, AK295001
Ensembl: ENSG00000079841
KO: hsa:22999
Nucleutide sequences
EMBL-CDS: BAA20798.1, AAG23167.1, CAI39604.1, CAI20558.1, CAI39598.1, AAG23164.1, AAG23166.1, CAI42139.1, BAH11906.1, AAI51854.1, CAI21554.1, CAI39600.1, AAG23162.1, BAH11945.1, AAO38848.1, BAH12309.1, CAI16961.1, AAG23163.1, BAB87121.1, AAG23165.1, BAB87242.1, AAI52436.1, BAH13358.1, CAI42135.1, BAH14479.1, BAH13748.1, AAH36608.1
Gene_ORFName: Nbla00761
Ensembl_TRS: ENST00000518273, ENST00000522291, ENST00000521978, ENST00000520567, ENST00000401910, ENST00000414192, ENST00000517960, ENST00000517827, ENST00000523963, ENST00000491071, ENST00000264839, ENST00000425662
Protein sequencees
Ensembl_PRO: ENSP00000428328, ENSP00000430408, ENSP00000430932, ENSP00000428417, ENSP00000430101, ENSP00000385649, ENSP00000402273, ENSP00000428367, ENSP00000429959, ENSP00000264839, ENSP00000430502, ENSP00000411235
RefSeq: XP_011533906.2, NP_001337343.1, NP_001337389.1, NP_001337340.1, NP_001337358.1, XP_024302137.1, NP_001337386.1, NP_001337401.1, NP_001337353.1, NP_001337347.1, NP_001337383.1, NP_055804.2, NP_001337395.1, NP_001337376.1, NP_001161879.1, XP_016866007.1, XP_016866006.1, XP_016866010.1, XP_024302139.1, NP_001337377.1, NP_001337396.1, NP_001337366.1, NP_001337341.1, NP_001337399.1, XP_024302140.1, NP_001337356.1, NP_001337370.1, NP_001161881.1, XP_016866011.1, NP_001337350.1, NP_001337374.1, NP_001337379.1, NP_001337357.1, XP_016866047.1, XP_016866016.1, NP_001337354.1, NP_001337363.1, NP_001337355.1, XP_016866026.1, NP_001337361.1, NP_001337360.1, NP_001161880.1, XP_016866012.1, XP_016866035.1, NP_001337391.1, NP_001337375.1, NP_001337351.1, NP_001337369.1, NP_001337385.1, NP_001337344.1, NP_001337388.1, NP_001161883.1, NP_001337372.1, XP_016866013.1, NP_001337400.1, XP_005248745.1, NP_001337384.1, NP_001337368.1, NP_001337371.1, XP_016866046.1, NP_001337367.1, XP_016866015.1, XP_016866033.1, XP_016866045.1, NP_001337381.1, NP_001337387.1, NP_001161882.1, NP_001337342.1, NP_001337364.1, XP_024302138.1, XP_016866008.1, NP_001337378.1, NP_001337393.1, NP_001337362.1, NP_001337390.1, NP_001337392.1, XP_016866005.1, NP_001337359.1, NP_001337348.1, NP_001337397.1, NP_001337373.1, NP_001337365.1, XP_016866009.1, XP_016866014.1, NP_001337345.1, NP_001337346.1, NP_001337349.1, NP_001337398.1, NP_001337394.1, NP_001337403.1, NP_001337352.1, NP_001337402.1
Others
UniRef100: UniRef100_Q3ZCW0, UniRef100_B7Z9Z3, UniRef100_Q86UR5, UniRef100_B7Z7W2
UniRef90: UniRef90_B7Z9Z3, UniRef90_Q3ZCW0, UniRef90_Q86UR5
UniRef50: UniRef50_A0A2U3X1B0, UniRef50_Q86UR5, UniRef50_A0A6F9AA90
UniGene: Hs.485729
CCDS: CCDS55031.1, CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55033.1, CCDS55032.1

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