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RYR1 (ryanodine receptor 1)

Identity

Alias_namesregulatory subunit 137
MHS
MHS1
CCO
Alias_symbol (synonym)RYR
PPP1R137
Other aliasRYDR
RYR-1
SKRR
HGNC (Hugo) RYR1
LocusID (NCBI) 6261
Atlas_Id 45850
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 38433700 and ends at 38587564 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		FBL (19q13.2) / RYR1 (19q13.2)RYR1 (19q13.2) / RYR1 (19q13.2)TMEM158 (3p21.31) / RYR1 (19q13.2)
FBL 19q13.2 / RYR1 19q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)RYR1   10483
LRG (Locus Reference Genomic)LRG_766
Cards
Entrez_Gene (NCBI)RYR1  6261  ryanodine receptor 1
AliasesCCO; MHS; MHS1; PPP1R137; 
RYDR; RYR; RYR-1; SKRR
GeneCards (Weizmann)RYR1
Ensembl hg19 (Hinxton)ENSG00000196218 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196218 [Gene_View]  chr19:38433700-38587564 [Contig_View]  RYR1 [Vega]
ICGC DataPortalENSG00000196218
TCGA cBioPortalRYR1
AceView (NCBI)RYR1
Genatlas (Paris)RYR1
WikiGenes6261
SOURCE (Princeton)RYR1
Genetics Home Reference (NIH)RYR1
Genomic and cartography
GoldenPath hg38 (UCSC)RYR1  -     chr19:38433700-38587564 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RYR1  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblRYR1 - 19q13.2 [CytoView hg19]  RYR1 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIRYR1 [Mapview hg19]  RYR1 [Mapview hg38]
OMIM117000   145600   180901   255310   255320   
Gene and transcription
Genbank (Entrez)A20359 AB209425 AF075460 AK293785 BI000785
RefSeq transcript (Entrez)NM_000540 NM_001042723
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RYR1
Cluster EST : UnigeneHs.466664 [ NCBI ]
CGAP (NCI)Hs.466664
Alternative Splicing GalleryENSG00000196218
Gene ExpressionRYR1 [ NCBI-GEO ]   RYR1 [ EBI - ARRAY_EXPRESS ]   RYR1 [ SEEK ]   RYR1 [ MEM ]
Gene Expression Viewer (FireBrowse)RYR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6261
GTEX Portal (Tissue expression)RYR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21817   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21817  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21817
Splice isoforms : SwissVarP21817
PhosPhoSitePlusP21817
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (EBI)B30.2/SPRY    ConA-like_dom    EF-hand-dom_pair    EF_hand_dom    Ins145_P3_rcpt    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryan_recept    Ryanodine_rcpt    Ryanodine_recept-rel    Ryanrecept_TM4-6    RyR1    SPRY_dom   
Domain families : Pfam (Sanger)EF-hand_8 (PF13833)    Ins145_P3_rec (PF08709)    Ion_trans (PF00520)    MIR (PF02815)    RIH_assoc (PF08454)    RR_TM4-6 (PF06459)    RYDR_ITPR (PF01365)    RyR (PF02026)    SPRY (PF00622)   
Domain families : Pfam (NCBI)pfam13833    pfam08709    pfam00520    pfam02815    pfam08454    pfam06459    pfam01365    pfam02026    pfam00622   
Domain families : Smart (EMBL)MIR (SM00472)  SPRY (SM00449)  
Conserved Domain (NCBI)RYR1
DMDM Disease mutations6261
Blocks (Seattle)RYR1
SuperfamilyP21817
Human Protein AtlasENSG00000196218
Peptide AtlasP21817
HPRD01618
IPIIPI00783826   IPI00220558   IPI00334799   IPI01010330   
Protein Interaction databases
DIP (DOE-UCLA)P21817
IntAct (EBI)P21817
FunCoupENSG00000196218
BioGRIDRYR1
STRING (EMBL)RYR1
ZODIACRYR1
Ontologies - Pathways
QuickGOP21817
Ontology : AmiGOresponse to hypoxia  protease binding  outflow tract morphogenesis  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  voltage-gated calcium channel activity  calcium channel activity  calcium ion binding  protein binding  calmodulin binding  cytoplasm  smooth endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cell cortex  calcium ion transport  muscle contraction  junctional sarcoplasmic reticulum membrane  terminal cisterna  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  calcium-release channel activity  sarcoplasmic reticulum  junctional membrane complex  T-tubule  response to caffeine  I band  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  skin development  ossification involved in bone maturation  skeletal muscle fiber development  calcium-induced calcium release activity  release of sequestered calcium ion into cytosol  regulation of cytosolic calcium ion concentration  extracellular exosome  cellular response to caffeine  cellular response to caffeine  regulation of cardiac conduction  
Ontology : EGO-EBIresponse to hypoxia  protease binding  outflow tract morphogenesis  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  ryanodine-sensitive calcium-release channel activity  voltage-gated calcium channel activity  calcium channel activity  calcium ion binding  protein binding  calmodulin binding  cytoplasm  smooth endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cell cortex  calcium ion transport  muscle contraction  junctional sarcoplasmic reticulum membrane  terminal cisterna  release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  calcium-release channel activity  sarcoplasmic reticulum  junctional membrane complex  T-tubule  response to caffeine  I band  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  skin development  ossification involved in bone maturation  skeletal muscle fiber development  calcium-induced calcium release activity  release of sequestered calcium ion into cytosol  regulation of cytosolic calcium ion concentration  extracellular exosome  cellular response to caffeine  cellular response to caffeine  regulation of cardiac conduction  
Pathways : KEGGCalcium signaling pathway    Circadian entrainment    Long-term depression   
NDEx NetworkRYR1
Atlas of Cancer Signalling NetworkRYR1
Wikipedia pathwaysRYR1
Orthology - Evolution
OrthoDB6261
GeneTree (enSembl)ENSG00000196218
Phylogenetic Trees/Animal Genes : TreeFamRYR1
HOVERGENP21817
HOGENOMP21817
Homologs : HomoloGeneRYR1
Homology/Alignments : Family Browser (UCSC)RYR1
Gene fusions - Rearrangements
Fusion : MitelmanFBL/RYR1 [19q13.2/19q13.2]  [t(19;19)(q13;q13)]  
Fusion: TCGAFBL 19q13.2 RYR1 19q13.2 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRYR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RYR1
dbVarRYR1
ClinVarRYR1
1000_GenomesRYR1 
Exome Variant ServerRYR1
ExAC (Exome Aggregation Consortium)RYR1 (select the gene name)
Genetic variants : HAPMAP6261
Genomic Variants (DGV)RYR1 [DGVbeta]
DECIPHERRYR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRYR1 
Mutations
ICGC Data PortalRYR1 
TCGA Data PortalRYR1 
Broad Tumor PortalRYR1
OASIS PortalRYR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRYR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRYR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch RYR1
DgiDB (Drug Gene Interaction Database)RYR1
DoCM (Curated mutations)RYR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RYR1 (select a term)
intoGenRYR1
Cancer3DRYR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM117000    145600    180901    255310    255320   
Orphanet65    17834    649    18007    21788    23197    14314    13922   
MedgenRYR1
Genetic Testing Registry RYR1
NextProtP21817 [Medical]
TSGene6261
GENETestsRYR1
Target ValidationRYR1
Huge Navigator RYR1 [HugePedia]
snp3D : Map Gene to Disease6261
BioCentury BCIQRYR1
ClinGenRYR1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6261
Chemical/Pharm GKB GenePA34896
Clinical trialRYR1
Miscellaneous
canSAR (ICR)RYR1 (select the gene name)
Probes
Litterature
PubMed235 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRYR1
EVEXRYR1
GoPubMedRYR1
iHOPRYR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:06:27 CEST 2017
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