Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RYR1 (ryanodine receptor 1 (skeletal))

Identity

Other namesCCO
MHS
MHS1
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
Entrez_Gene (NCBI)RYR1  6261  ryanodine receptor 1 (skeletal)
Cards
GeneCards (Weizmann)RYR1
Ensembl (Hinxton)ENSG00000196218 [Gene_View]  chr19:38924340-39078204 [Contig_View]  RYR1 [Vega]
AceView (NCBI)RYR1
Genatlas (Paris)RYR1
SOURCE (Stanford)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   255320   
Gene and transcription
Genbank (Entrez)A20359 AB209425 AF075460 AK293785 BI000785
RefSeq transcript (SRS)NM_000540 NM_001042723
RefSeq transcript (Entrez)NM_000540 NM_001042723
RefSeq genomic (SRS)AC_000151 NC_000019 NC_018930 NG_008866 NT_011109 NW_001838496 NW_004929415
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 [ SRS ] Hs.466664 [ NCBI ]
CGAP (NCI)Hs.466664
Alternative Splicing : Fast-db (Paris)GSHG0014893
Alternative Splicing GalleryENSG00000196218
Gene ExpressionRYR1 [ NCBI-GEO ]   RYR1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21817 (SRS) P21817 (Uniprot)
NextProtP21817  [Medical]
With graphics : InterProP21817
Splice isoforms : SwissVarP21817(Swissvar)
Domaine pattern : Prosite (SRS)B302_SPRY (PS50188)    MIR (PS50919)   
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    MIR (PS50919)   
Domains : Interpro (SRS)B30.2/SPRY    Ca-rel_channel    ConA-like_lec_gl_sf    EF-hand-dom_pair    Ins145_P3_rcpt    Ion_trans_dom    MIR_motif    RIH_assoc-dom    Ryan_recept    Ryanodine_rcpt    Ryanodine_recept-rel    Ryanrecept_TM4-6    SPla/RYanodine_receptor_subgr    SPRY_rcpt   
Domains : Interpro (EBI)B30.2/SPRY    Ca-rel_channel    ConA-like_lec_gl_sf    EF-hand-dom_pair    Ins145_P3_rcpt    Ion_trans_dom    MIR_motif    RIH_assoc-dom    Ryan_recept    Ryanodine_rcpt    Ryanodine_recept-rel    Ryanrecept_TM4-6    SPla/RYanodine_receptor_subgr    SPRY_rcpt   
Related proteins : CluSTrP21817
Domain families : Pfam (SRS)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 (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)  
DMDM6261
Blocks (Seattle)P21817
Human Protein AtlasENSG00000196218
HPRD01618
IPIIPI00783826   IPI00220558   IPI00334799   IPI01010330   
Protein Interaction databases
DIP (DOE-UCLA)P21817
IntAct (EBI)P21817
FunCoupENSG00000196218
REACTOMERYR1
Protein Interaction Database6261
BioGRIDRYR1
InParanoidP21817
Interologous Interaction database P21817
IntegromeDBRYR1
Gene fusion - rearrangments
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RYR1
SNP (GeneSNP Utah)RYR1
SNP : HGBaseRYR1
Genetic variants : HAPMAPRYR1
Somatic Mutations in Cancer : COSMICRYR1 
CONAN: Copy Number AnalysisRYR1 
Mutations and Diseases : HGMDRYR1
OMIM117000    145600    180901    255320   
GENETests117000    145600    180901    255320   
Disease Genetic AssociationRYR1
Huge Navigator RYR1 [HugePedia]  RYR1 [HugeCancerGEM]
Genomic VariantsRYR1  RYR1 [DGVbeta]
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
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 to 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  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 to 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  cellular response to caffeine  
Pathways : KEGGCalcium signaling pathwayLong-term depression
Other databases
Probes
Litterature
PubMed196 Pubmed reference(s) in Entrez
PubGeneRYR1
iHOPRYR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Dec 3 20:01:02 CET 2013
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.