Reviewed,
UniProtKB/Swiss-Prot Q86UR5 (RIMS1_HUMAN)
Last modified
November 24, 2009.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
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Names and origin
| Protein names | Recommended name: Regulating synaptic membrane exocytosis protein 1 Alternative name(s): Rab3-interacting molecule 1 Short name=RIM 1 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1692 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| 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. |
| Subunit structure | Binds RAB3A, RAB3B and RAB3D that have been activated by GTP-binding. Binds UNC13A. Binds RIM binding proteins 1 and 2. Interacts with PPFIA3 and PPFIA4 By similarity. Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions. |
| Subcellular location | Cell membrane; Peripheral membrane protein By similarity. Cell junction › synapse By similarity. Cell junction › synapse › presynaptic cell membrane; Peripheral membrane protein By similarity. |
| Tissue specificity | Detected in brain and retina. |
| Involvement in disease | Defects in RIMS1 may be a cause of cone-rod dystrophy type 7 (CORD7) [MIM:603649]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are 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. Ref.1 |
| Sequence similarities | Contains 2 C2 domains. Contains 1 FYVE-type zinc finger. Contains 1 PDZ (DHR) domain. Contains 1 RabBD (Rab-binding) domain. |
| Sequence caution | The sequence CAI39600.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI42135.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ABL1 | P00519 | 1 | EBI-1043236,EBI-375543 | |
| FYN | P06241 | 1 | EBI-1043236,EBI-515315 | |
| GRB2 | P62993 | 1 | EBI-1043236,EBI-401755 | |
| LRRK1 | Q38SD2 | 1 | EBI-1043236,EBI-1050422 | |
| NCK1 | P16333 | 1 | EBI-1043236,EBI-389883 |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q86UR5-1) Also known as: RIM1 alpha; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q86UR5-2) Also known as: RIM short form; The sequence of this isoform differs from the canonical sequence as follows: 484-494: Missing. 1040-1692: Missing. | ||||||
| Isoform 3 (identifier: Q86UR5-3) Also known as: RIM long form; Rab3 interacting protein variant 2; The sequence of this isoform differs from the canonical sequence as follows: 484-494: Missing. 1039-1102: Missing. 1133-1245: Missing. 1540-1573: Missing. | ||||||
| Isoform 4 (identifier: Q86UR5-4) Also known as: Rab3 interacting protein variant 1; The sequence of this isoform differs from the canonical sequence as follows: 1065-1102: Missing. 1133-1245: Missing. | ||||||
| Isoform 5 (identifier: Q86UR5-5) Also known as: Rab3 interacting protein variant 3; The sequence of this isoform differs from the canonical sequence as follows: 924-924: Missing. 1038-1244: Missing. 1377-1385: Missing. | ||||||
| Isoform 6 (identifier: Q86UR5-6) Also known as: Rab3 interacting protein variant 4; The sequence of this isoform differs from the canonical sequence as follows: 1039-1102: Missing. 1161-1245: Missing. 1284-1455: Missing. | ||||||
| Isoform 7 (identifier: Q86UR5-7) Also known as: Rab3 interacting protein variant 5; The sequence of this isoform differs from the canonical sequence as follows: 924-924: Missing. 1039-1102: Missing. 1133-1245: Missing. 1284-1455: Missing. | ||||||
| Isoform 8 (identifier: Q86UR5-8) Also known as: Rab3 interacting protein variant 6; The sequence of this isoform differs from the canonical sequence as follows: 924-924: Missing. 1018-1245: Missing. 1284-1455: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1692 | 1692 | Regulating synaptic membrane exocytosis protein 1 | PRO_0000190198 | ||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||
| Domain | 22 – 182 | 161 | RabBD | |||||||||||||||||||||||||
| Domain | 605 – 691 | 87 | PDZ | |||||||||||||||||||||||||
| Domain | 744 – 850 | 107 | C2 1 | |||||||||||||||||||||||||
| Domain | 1538 – 1640 | 103 | C2 2 | |||||||||||||||||||||||||
| Zinc finger | 110 – 170 | 61 | FYVE-type | |||||||||||||||||||||||||
| Compositional bias | 1336 – 1402 | 67 | Ser-rich | |||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||
| Modified residue | 324 | 1 | Phosphoserine | |||||||||||||||||||||||||
| Modified residue | 881 | 1 | Phosphoserine By similarity | |||||||||||||||||||||||||
| Modified residue | 1252 | 1 | Phosphoserine By similarity | |||||||||||||||||||||||||
| Modified residue | 1670 | 1 | Phosphothreonine Ref.8 | |||||||||||||||||||||||||
| Modified residue | 1677 | 1 | Phosphoserine Ref.8 Ref.7 Ref.9 | |||||||||||||||||||||||||
| Modified residue | 1679 | 1 | Phosphoserine Ref.8 | |||||||||||||||||||||||||
| Modified residue | 1680 | 1 | Phosphoserine Ref.8 Ref.7 Ref.9 | |||||||||||||||||||||||||
| Modified residue | 1683 | 1 | Phosphoserine Ref.9 | |||||||||||||||||||||||||
| Modified residue | 1692 | 1 | Phosphoserine Ref.9 | |||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||
| Alternative sequence | 484 – 494 | 11 | Missing in isoform 2 and isoform 3. | VSP_008160 | ||||||||||||||||||||||||
| Alternative sequence | 924 | 1 | Missing in isoform 5, isoform 7 and isoform 8. | VSP_008161 | ||||||||||||||||||||||||
| Alternative sequence | 1018 – 1245 | 228 | Missing in isoform 8. | VSP_008162 | ||||||||||||||||||||||||
| Alternative sequence | 1038 – 1244 | 207 | Missing in isoform 5. | VSP_008163 | ||||||||||||||||||||||||
| Alternative sequence | 1039 – 1102 | 64 | Missing in isoform 3, isoform 6 and isoform 7. | VSP_008164 | ||||||||||||||||||||||||
| Alternative sequence | 1040 – 1692 | 653 | Missing in isoform 2. | VSP_008165 | ||||||||||||||||||||||||
| Alternative sequence | 1065 – 1102 | 38 | Missing in isoform 4. | VSP_008166 | ||||||||||||||||||||||||
| Alternative sequence | 1133 – 1245 | 113 | Missing in isoform 3, isoform 4 and isoform 7. | VSP_008167 | ||||||||||||||||||||||||
| Alternative sequence | 1161 – 1245 | 85 | Missing in isoform 6. | VSP_008168 | ||||||||||||||||||||||||
| Alternative sequence | 1284 – 1455 | 172 | Missing in isoform 6, isoform 7 and isoform 8. | VSP_008169 | ||||||||||||||||||||||||
| Alternative sequence | 1377 – 1385 | 9 | Missing in isoform 5. | VSP_008170 | ||||||||||||||||||||||||
| Alternative sequence | 1540 – 1573 | 34 | Missing in isoform 3. | VSP_008171 | ||||||||||||||||||||||||
| Natural variant | 820 | 1 | R → H in CORD7. Ref.1 | VAR_016804 | ||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||
| Mutagenesis | 796 – 797 | 2 | RR → AA: Abolishes interaction with SYT1 and CACNA1B. Ref.6 | |||||||||||||||||||||||||
| Mutagenesis | 1591 – 1592 | 2 | KK → AA: Abolishes interaction with SYT1 and CACNA1B. Ref.6 | |||||||||||||||||||||||||
| Sequence conflict | 157 | 1 | V → Y in CAI16961. Ref.4 | |||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||
| Beta strand | 585 – 589 | 5 | ||||||||||||||||||||||||||
| Beta strand | 591 – 602 | 12 | ||||||||||||||||||||||||||
| Beta strand | 609 – 611 | 3 | ||||||||||||||||||||||||||
| Beta strand | 616 – 625 | 10 | ||||||||||||||||||||||||||
| Beta strand | 629 – 638 | 10 | ||||||||||||||||||||||||||
| Helix | 643 – 646 | 4 | ||||||||||||||||||||||||||
| Beta strand | 655 – 661 | 7 | ||||||||||||||||||||||||||
| Helix | 669 – 678 | 10 | ||||||||||||||||||||||||||
| Helix | 679 – 681 | 3 | ||||||||||||||||||||||||||
| Beta strand | 685 – 691 | 7 | ||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)." Johnson S., Halford S., Morris A.G., Patel R.J., Wilkie S.E., Hardcastle A.J., Moore A.T., Zhang K., Hunt D.M. Genomics 81:304-314(2003) [PubMed: 12659814] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANT CORD7 HIS-820. |
| [2] | "Identification of the alternative form of human RIM." Aoyama M., Asai K., Shishikura T., Ohira M., Inuzuka H., Morohashi A., Kato T., Nakagawara A. Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). Tissue: Neuroblastoma. |
| [3] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [6] | "Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin." Coppola T., Magnin-Luethi S., Perret-Menoud V., Gattesco S., Schiavo G., Regazzi R. J. Biol. Chem. 276:32756-32762(2001) [PubMed: 11438518] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 776-1692 (ISOFORMS 3; 4; 5; 6; 7 AND 8), MUTAGENESIS OF 796-LYS-LYS-797 AND 1591-ARG-ARG-1592, INTERACTION WITH SNAP25; SYT1 AND CACNA1B. Tissue: Brain. |
| [7] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1677 AND SER-1680, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1670; SER-1677; SER-1679 AND SER-1680, MASS SPECTROMETRY. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1677; SER-1680; SER-1683 AND SER-1692, MASS SPECTROMETRY. |
| [10] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-324, MASS SPECTROMETRY. |
| [11] | "Solution structure of the PDZ domain of human KIAA0340 protein." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 585-694. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AY190519 mRNA. Translation: AAO38848.1. AB045726 mRNA. Translation: BAB87121.1. AB051866 mRNA. Translation: BAB87242.1. AB002338 mRNA. Translation: BAA20798.1. Different initiation. AL160405 Genomic DNA. No translation available. AL590011 AL445256 Genomic DNA. Translation: CAI16961.1. AL034373 AL590011 Genomic DNA. Translation: CAI20558.1. AL390056 AL590011 Genomic DNA. Translation: CAI21554.1. AL445256 AL590011 Genomic DNA. Translation: CAI39598.1. AL445256, AL035633 Genomic DNA. Translation: CAI39600.1. Sequence problems. AL035633, AL445256 Genomic DNA. Translation: CAI42135.1. Sequence problems. BC151853 mRNA. Translation: AAI51854.1. BC152435 mRNA. Translation: AAI52436.1. AF263305 mRNA. Translation: AAG23162.1. AF263306 mRNA. Translation: AAG23163.1. AF263307 mRNA. Translation: AAG23164.1. AF263308 mRNA. Translation: AAG23165.1. AF263309 mRNA. Translation: AAG23166.1. AF263310 mRNA. Translation: AAG23167.1. | |||||||||||||
| IPI | IPI00339392. IPI00339394. IPI00339396. IPI00387015. IPI00387018. IPI00387019. IPI00472331. IPI00848003. | ||||||||||||
| RefSeq | NP_055804.2. | ||||||||||||
| UniGene | Hs.485729 | ||||||||||||
3D structure databases | |||||||||||||
| |||||||||||||
| SMR | Q86UR5. Positions 113-170, 740-868. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q86UR5. 5 interactions. | ||||||||||||
| STRING | Q86UR5. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q86UR5. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q86UR5. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000264839; ENSP00000264839; ENSG00000079841; Homo sapiens. [Genome view] | ||||||||||||
| GeneID | 22999. | ||||||||||||
| KEGG | hsa:22999. | ||||||||||||
| UCSC | uc003pga.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 22999. | ||||||||||||
| GeneCards | GC06P072653. | ||||||||||||
| H-InvDB | HIX0006004. | ||||||||||||
| HGNC | HGNC:17282. RIMS1. | ||||||||||||
| MIM | 603649. phenotype. 606629. gene. | ||||||||||||
| Orphanet | 1872. Cone rod dystrophy. | ||||||||||||
| PharmGKB | PA38220. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | Q86UR5. | ||||||||||||
| OMA | CLSRRGY | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | botulinumtoxinpathway. Effects of Botulinum toxin. | ||||||||||||
| Reactome | REACT_13685. Synaptic Transmission. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q86UR5. | ||||||||||||
| Bgee | Q86UR5. | ||||||||||||
| Genevestigator | Q86UR5. | ||||||||||||
| GermOnline | ENSG00000079841. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_reg_CaLB. IPR018029. C2_membr_targeting. IPR001478. PDZ/DHR/GLGF. IPR010911. Rab_bd_domain. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. [Graphical view] | ||||||||||||
| Pfam | PF00168. C2. 2 hits. PF00595. PDZ. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00239. C2. 2 hits. SM00228. PDZ. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS50004. C2. 2 hits. PS50106. PDZ. 1 hit. PS50916. RABBD. 1 hit. PS50178. ZF_FYVE. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 43896. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | RIMS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86UR5 Secondary accession number(s): A7MBN6 Q9HBA6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


