| Tbio | Regulating synaptic membrane exocytosis protein 1 |
Rab effector involved in exocytosis (By similarity). 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). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
Comments
Property Summary
| NCBI Gene PubMed Count | 38 |
| Grant Count | 44 |
| R01 Count | 35 |
| Funding | $3,839,301.66 |
| PubMed Score | 81.50 |
| PubTator Score | 39.27 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -3.300 | 0.001 |
| posterior fossa group A ependymoma | -5.000 | 0.000 |
| oligodendroglioma | -2.900 | 0.003 |
| glioblastoma | -4.300 | 0.000 |
| medulloblastoma | -3.900 | 0.000 |
| atypical teratoid / rhabdoid tumor | -4.800 | 0.000 |
| medulloblastoma, large-cell | -5.200 | 0.000 |
| primitive neuroectodermal tumor | -3.300 | 0.002 |
| adult high grade glioma | -4.100 | 0.000 |
| pilocytic astrocytoma | -3.300 | 0.000 |
| subependymal giant cell astrocytoma | -3.034 | 0.010 |
| Pick disease | -1.400 | 0.002 |
| head and neck cancer and chronic obstruc... | -1.100 | 0.025 |
| psoriasis | -1.400 | 0.000 |
| PMID | Text |
|---|---|
| 22248876 | 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 |
| 21402706 | 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. |
| 21331761 | Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. |
| 20801516 | Observational study of genetic testing. (HuGE Navigator) |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) |
| 19240061 | Observational study of gene-disease association. (HuGE Navigator) |
| 19156168 | Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) |
| 17237123 | A possible role for RIMS1 in the enhancement of cognitive function at least in this kindred is suggested. |
| 15746564 | Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in autosomal recessive retinitis pigmentosa. |
| 12871946 | Rim1 is a component of the presynaptic active zone and modulator of exocytosis and binds 14-3-3 through its N terminus |
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTP 1 - 70 RNAENQPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFC 71 - 140 ARCGGRVSLRSNNEDKVVMWVCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKA 141 - 210 RLQERSRSQTPLSTAAASSQDAAPPSAPPDRSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQ 211 - 280 NGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEED 281 - 350 YQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARAS 351 - 420 PPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSSAVLMRKAKRE 421 - 490 KVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG 491 - 560 DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGR 561 - 630 LGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIP 631 - 700 ESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLP 701 - 770 ARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQE 771 - 840 EESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDIS 841 - 910 DYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDE 911 - 980 IHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHLVRHYKTLPP 981 - 1050 KMPLLQSSSHWNIYSSILPAHTKTKSVTRQDISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCL 1051 - 1120 RPDTSLHSPERERGRWSPSLDRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTC 1121 - 1190 LSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPAD 1191 - 1260 TSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYR 1261 - 1330 SCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTS 1331 - 1400 VSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRST 1401 - 1470 ETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMG 1471 - 1540 DIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVF 1541 - 1610 DESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSS 1611 - 1680 LESSTGPPCIRS 1681 - 1692 //
| PMID | Year | Title |
|---|---|---|
| 25056061 | 2014 | Biological insights from 108 schizophrenia-associated genetic loci. |
| 24236485 | 2013 | Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. |
| 24009623 | 2013 | Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system. |
| 23999003 | 2013 | SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. |
| 22658674 | 2012 | Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. |
| 22248876 | 2012 | RIM, Munc13, and Rab3A interplay in acrosomal exocytosis. |
| 21402706 | 2011 | Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release. |
| 21331761 | 2011 | Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. |
| 20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | |
| More... |
