ENSG00000079841


Homo sapiens

Features
Gene ID: ENSG00000079841
  
Biological name :RIMS1
  
Synonyms : Q86UR5 / regulating synaptic membrane exocytosis 1 / RIMS1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q13
Gene start: 71886703
Gene end: 72403143
  
Corresponding Affymetrix probe sets: 1552922_at (Human Genome U133 Plus 2.0 Array)   216184_s_at (Human Genome U133 Plus 2.0 Array)   231986_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000430408
Ensembl peptide - ENSP00000430359
Ensembl peptide - ENSP00000430502
Ensembl peptide - ENSP00000430932
Ensembl peptide - ENSP00000264839
Ensembl peptide - ENSP00000359448
Ensembl peptide - ENSP00000385649
Ensembl peptide - ENSP00000389503
Ensembl peptide - ENSP00000402273
Ensembl peptide - ENSP00000411235
Ensembl peptide - ENSP00000428328
Ensembl peptide - ENSP00000428367
Ensembl peptide - ENSP00000428417
Ensembl peptide - ENSP00000429338
Ensembl peptide - ENSP00000429959
Ensembl peptide - ENSP00000430101
NCBI entrez gene - 22999     See in Manteia.
OMIM - 606629
RefSeq - XM_017010558
RefSeq - XM_017010546
RefSeq - XM_017010547
RefSeq - XM_017010548
RefSeq - XM_017010549
RefSeq - XM_017010550
RefSeq - XM_017010551
RefSeq - XM_017010552
RefSeq - XM_017010553
RefSeq - XM_017010554
RefSeq - XM_017010555
RefSeq - XM_017010557
RefSeq - NM_001168407
RefSeq - NM_001168408
RefSeq - NM_001168409
RefSeq - NM_001168410
RefSeq - NM_001168411
RefSeq - NM_014989
RefSeq - XM_005248688
RefSeq - XM_011535604
RefSeq - XM_011535611
RefSeq - XM_011535615
RefSeq - XM_017010516
RefSeq - XM_017010517
RefSeq - XM_017010518
RefSeq - XM_017010519
RefSeq - XM_017010520
RefSeq - XM_017010521
RefSeq - XM_017010522
RefSeq - XM_017010523
RefSeq - XM_017010524
RefSeq - XM_017010525
RefSeq - XM_017010526
RefSeq - XM_017010527
RefSeq - XM_017010528
RefSeq - XM_017010529
RefSeq - XM_017010530
RefSeq - XM_017010531
RefSeq - XM_017010532
RefSeq - XM_017010533
RefSeq - XM_017010534
RefSeq - XM_017010535
RefSeq - XM_017010536
RefSeq - XM_017010537
RefSeq - XM_017010538
RefSeq - XM_017010539
RefSeq - XM_017010540
RefSeq - XM_017010541
RefSeq - XM_017010542
RefSeq - XM_017010543
RefSeq - XM_017010544
RefSeq - XM_017010545
RefSeq Peptide - NP_001161880
RefSeq Peptide - NP_001161881
RefSeq Peptide - NP_001161882
RefSeq Peptide - NP_001161883
RefSeq Peptide - NP_055804
RefSeq Peptide - NP_001161879
swissprot - H0YBE7
swissprot - H0YBU6
swissprot - E5RGM0
swissprot - Q86UR5
swissprot - A0A0C4DFV1
Ensembl - ENSG00000079841
  
Related genetic diseases (OMIM): 603649 - Cone-rod dystrophy 7, 603649
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rims1aENSDARG00000074680Danio rerio
 rims1bENSDARG00000078902Danio rerio
 RIMS1ENSGALG00000015944Gallus gallus
 Rims1ENSMUSG00000041670Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RIMS2 / Q9UQ26 / regulating synaptic membrane exocytosis 2ENSG0000017640650
RIMS3 / Q9UJD0 / regulating synaptic membrane exocytosis 3ENSG0000011701612
RIMS4 / Q9H426 / regulating synaptic membrane exocytosis 4ENSG0000010109810


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR001478  PDZ domain
 IPR010911  Rab-binding domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017455  Zinc finger, FYVE-related
 IPR030630  Regulating synaptic membrane exocytosis protein 1
 IPR035892  C2 domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0007269 neurotransmitter secretion TAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0014047 glutamate secretion TAS
 biological_processGO:0016079 synaptic vesicle exocytosis TAS
 biological_processGO:0017156 calcium ion regulated exocytosis TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042391 regulation of membrane potential IBA
 biological_processGO:0045055 regulated exocytosis NAS
 biological_processGO:0046903 secretion NAS
 biological_processGO:0046928 regulation of neurotransmitter secretion TAS
 biological_processGO:0048791 calcium ion-regulated exocytosis of neurotransmitter IBA
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0061025 membrane fusion NAS
 biological_processGO:0065003 protein-containing complex assembly IDA
 biological_processGO:0097151 positive regulation of inhibitory postsynaptic potential ISS
 biological_processGO:1903861 positive regulation of dendrite extension IDA
 biological_processGO:2000300 regulation of synaptic vesicle exocytosis IBA
 biological_processGO:2000463 positive regulation of excitatory postsynaptic potential ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0042734 presynaptic membrane NAS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048786 presynaptic active zone TAS
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding ISS
 molecular_functionGO:0030695 GTPase regulator activity TAS
 molecular_functionGO:0044325 ion channel binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
GABA synthesis, release, reuptake and degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0011504 Bull s eye maculopathy "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack]
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 HP:0012045 Retinal flecks "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [pmid:7952338]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131626 PPFIA1 / Q13136 / PTPRF interacting protein alpha 1  / complex
 ENSG00000198722 O14795 / UNC13B / unc-13 homolog B  / complex
 ENSG00000143847 O75335 / PPFIA4 / PTPRF interacting protein alpha 4  / complex
 ENSG00000005379 O95153 / TSPOAP1 / TSPO associated protein 1  / complex
 ENSG00000177380 O75145 / PPFIA3 / PTPRF interacting protein alpha 3  / complex
 ENSG00000139220 O75334 / PPFIA2 / PTPRF interacting protein alpha 2  / complex






 

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