| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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: 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). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=9; Comment=Additional isoforms seem to exist; Name=1; Synonyms=RIM1 alpha; IsoId=Q86UR5-1; Sequence=Displayed; Name=2; Synonyms=RIM short form; IsoId=Q86UR5-2; Sequence=VSP_008165; Note=May be due to intron retention; Name=3; Synonyms=RIM long form, Rab3 interacting protein variant 2; IsoId=Q86UR5-3; Sequence=VSP_008164, VSP_008167, VSP_008171; Name=4; Synonyms=Rab3 interacting protein variant 1; IsoId=Q86UR5-4; Sequence=VSP_008166, VSP_008167; Name=5; Synonyms=Rab3 interacting protein variant 3; IsoId=Q86UR5-5; Sequence=VSP_008161, VSP_008163, VSP_008170; Name=6; Synonyms=Rab3 interacting protein variant 4; IsoId=Q86UR5-6; Sequence=VSP_008164, VSP_008168, VSP_008169; Name=7; Synonyms=Rab3 interacting protein variant 5; IsoId=Q86UR5-7; Sequence=VSP_008161, VSP_008164, VSP_008167, VSP_008169; Name=8; Synonyms=Rab3 interacting protein variant 6; IsoId=Q86UR5-8; Sequence=VSP_008161, VSP_008162, VSP_008169; Name=9; IsoId=Q86UR5-9; Sequence=VSP_043177, VSP_043178, VSP_008164, VSP_043179, VSP_043180, VSP_008169; Note=No experimental confirmation available; TISSUE SPECIFICITY: Detected in brain and retina. PTM: Phosphorylated by BRSK1 (By similarity). 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. SIMILARITY: Contains 2 C2 domains. SIMILARITY: Contains 1 FYVE-type zinc finger. SIMILARITY: Contains 1 PDZ (DHR) domain. SIMILARITY: Contains 1 RabBD (Rab-binding) domain. SEQUENCE CAUTION: Sequence=BAA20798.1; Type=Erroneous initiation; Sequence=CAI39600.1; Type=Erroneous gene model prediction; Sequence=CAI42135.1; Type=Erroneous gene model prediction; GENE SYNONYMS:RIMS1 KIAA0340 RAB3IP2 RIM1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1692 AA; 189073 MW; 0A96642DC832C15E CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:17282,
urn:biopax:RelationshipXref:NCBI GENE_22999,
urn:biopax:RelationshipXref:REFSEQ_NP_001161882,
urn:biopax:RelationshipXref:REFSEQ_NP_055804,
urn:biopax:UnificationXref:UNIPROT_A7MBN6,
urn:biopax:UnificationXref:UNIPROT_B7Z3S3,
urn:biopax:UnificationXref:UNIPROT_E7EX08,
urn:biopax:UnificationXref:UNIPROT_E9PHR1,
urn:biopax:UnificationXref:UNIPROT_O15048,
urn:biopax:UnificationXref:UNIPROT_Q5JY21,
urn:biopax:UnificationXref:UNIPROT_Q5JY25,
urn:biopax:UnificationXref:UNIPROT_Q5SZK1,
urn:biopax:UnificationXref:UNIPROT_Q86UR5,
urn:biopax:UnificationXref:UNIPROT_Q8TDY9,
urn:biopax:UnificationXref:UNIPROT_Q8TDZ5,
urn:biopax:UnificationXref:UNIPROT_Q9HBA1,
urn:biopax:UnificationXref:UNIPROT_Q9HBA2,
urn:biopax:UnificationXref:UNIPROT_Q9HBA3,
urn:biopax:UnificationXref:UNIPROT_Q9HBA4,
urn:biopax:UnificationXref:UNIPROT_Q9HBA5,
urn:biopax:UnificationXref:UNIPROT_Q9HBA6
|
| biopax3:displayName |
RIMS1_HUMAN
|
| biopax3:name |
RIM 1,
RIMS1,
Rab-3-interacting molecule 1,
Rab-3-interacting protein 2
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:RIMS1_HUMAN_1,
urn:biopax:ModificationFeature:RIMS1_HUMAN_2,
urn:biopax:ModificationFeature:RIMS1_HUMAN_3,
urn:biopax:ModificationFeature:RIMS1_HUMAN_4,
urn:biopax:ModificationFeature:RIMS1_HUMAN_5,
urn:biopax:ModificationFeature:RIMS1_HUMAN_6,
urn:biopax:ModificationFeature:RIMS1_HUMAN_7,
urn:biopax:ModificationFeature:RIMS1_HUMAN_8,
urn:biopax:ModificationFeature:RIMS1_HUMAN_9
|
| biopax3:organism | |
| biopax3:sequence |
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMWVCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPDRSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSSAVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHLVRHYKTLPPKMPLLQSSSHWNIYSSILPAHTKTKSVTRQDISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCLRPDTSLHSPERERGRWSPSLDRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS
|
| biopax3:standardName |
Regulating synaptic membrane exocytosis protein 1
|