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RYR1 (ryanodine receptor 1 (skeletal))

Identity

Other namesCCO
MHS
MHS1
PPP1R137
RYDR
RYR
RYR-1
SKRR
HGNC (Hugo) RYR1
LocusID (NCBI) 6261
Location 19q13.2
Location_base_pair Starts at 38924340 and ends at 39078204 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)RYR1  6261  ryanodine receptor 1 (skeletal)
GeneCards (Weizmann)RYR1
Ensembl (Hinxton)ENSG00000196218 [Gene_View]  chr19:38924340-39078204 [Contig_View]  RYR1 [Vega]
ICGC DataPortalENSG00000196218
AceView (NCBI)RYR1
Genatlas (Paris)RYR1
WikiGenes6261
SOURCE (Princeton)NM_000540 NM_001042723
Genomic and cartography
GoldenPath (UCSC)RYR1  -  19q13.2   chr19:38924340-39078204 +  19q13.2   [Description]    (hg19-Feb_2009)
EnsemblRYR1 - 19q13.2 [CytoView]
Mapping of homologs : NCBIRYR1 [Mapview]
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)AC_000151 NC_000019 NC_018930 NG_008866 NT_011109 NW_001838496 NW_004929415
Consensus coding sequences : CCDS (NCBI)RYR1
Cluster EST : UnigeneHs.466664 [ NCBI ]
CGAP (NCI)Hs.466664
Alternative Splicing : Fast-db (Paris)GSHG0014893
Alternative Splicing GalleryENSG00000196218
Gene ExpressionRYR1 [ NCBI-GEO ]     RYR1 [ SEEK ]   RYR1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21817 (Uniprot)
NextProtP21817  [Medical]
With graphics : InterProP21817
Splice isoforms : SwissVarP21817 (Swissvar)
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (EBI)B30.2/SPRY    ConA-like_lec_gl_sf    EF-hand-dom_pair    Ins145_P3_rcpt    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryan_recept    Ryanodine_rcpt    Ryanodine_recept-rel    Ryanrecept_TM4-6    SPla/RYanodine_receptor_subgr    SPRY_rcpt   
Related proteins : CluSTrP21817
Domain families : Pfam (Sanger)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)pfam08709    pfam00520    pfam02815    pfam08454    pfam06459    pfam01365    pfam02026    pfam00622   
Domain families : Smart (EMBL)MIR (SM00472)  SPRY (SM00449)  
DMDM Disease mutations6261
Blocks (Seattle)P21817
Human Protein AtlasENSG00000196218
Peptide AtlasP21817
HPRD01618
IPIIPI00783826   IPI00220558   IPI00334799   IPI01010330   
Protein Interaction databases
DIP (DOE-UCLA)P21817
IntAct (EBI)P21817
FunCoupENSG00000196218
BioGRIDRYR1
InParanoidP21817
Interologous Interaction database P21817
IntegromeDBRYR1
STRING (EMBL)RYR1
Ontologies - Pathways
Ontology : AmiGOresponse to hypoxia  protease binding  outflow tract morphogenesis  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  release of sequestered calcium ion into cytosol  cytosolic calcium ion homeostasis  transmembrane transport  extracellular vesicular exosome  calcium ion transmembrane transport  cellular response to caffeine  
Ontology : EGO-EBIresponse to hypoxia  protease binding  outflow tract morphogenesis  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  release of sequestered calcium ion into cytosol  cytosolic calcium ion homeostasis  transmembrane transport  extracellular vesicular exosome  calcium ion transmembrane transport  cellular response to caffeine  
Pathways : KEGGCalcium signaling pathway    Circadian entrainment    Long-term depression   
Protein Interaction DatabaseRYR1
Wikipedia pathwaysRYR1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RYR1
SNP (GeneSNP Utah)RYR1
SNP : HGBaseRYR1
Genetic variants : HAPMAPRYR1
1000_GenomesRYR1 
ICGC programENSG00000196218 
CONAN: Copy Number AnalysisRYR1 
Somatic Mutations in Cancer : COSMICRYR1 
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
Mutations and Diseases : HGMDRYR1
OMIM117000    145600    180901    255310    255320   
MedgenRYR1
GENETestsRYR1
Disease Genetic AssociationRYR1
Huge Navigator RYR1 [HugePedia]  RYR1 [HugeCancerGEM]
Genomic VariantsRYR1  RYR1 [DGVbeta]
Exome VariantRYR1
dbVarRYR1
ClinVarRYR1
snp3D : Map Gene to Disease6261
General knowledge
Homologs : HomoloGeneRYR1
Homology/Alignments : Family Browser (UCSC)RYR1
Phylogenetic Trees/Animal Genes : TreeFamRYR1
Chemical/Protein Interactions : CTD6261
Chemical/Pharm GKB GenePA34896
Clinical trialRYR1
Cancer Resource (Charite)ENSG00000196218
Other databases
Probes
Litterature
PubMed205 Pubmed reference(s) in Entrez
CoreMineRYR1
iHOPRYR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:14:36 CEST 2014

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