RYR1 (ryanodine receptor 1 (skeletal))

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

RYR1 (ryanodine receptor 1 (skeletal))

Identity

Other names	CCO
	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 hg19 (Hinxton)	ENSG00000196218 [Gene_View] chr19:38924340-39078204 [Contig_View] RYR1 [Vega]
Ensembl hg38 (Hinxton)	ENSG00000196218 [Gene_View] chr19:38924340-39078204 [Contig_View] RYR1 [Vega]
ICGC DataPortal	ENSG00000196218
cBioPortal	RYR1
AceView (NCBI)	RYR1
Genatlas (Paris)	RYR1
WikiGenes	6261
SOURCE (Princeton)	RYR1
	Genomic and cartography
GoldenPath hg19 (UCSC)	RYR1 - chr19:38924340-39078204 + 19q13.2 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	RYR1 - 19q13.2 [Description] (hg38-Dec_2013)
Ensembl	RYR1 - 19q13.2 [CytoView hg19] RYR1 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBI	RYR1 [Mapview hg19] RYR1 [Mapview hg38]
OMIM	117000 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 : Unigene	Hs.466664 [ NCBI ]
CGAP (NCI)	Hs.466664
Alternative Splicing : Fast-db (Paris)	GSHG0014893
Alternative Splicing Gallery	ENSG00000196218
Gene Expression	RYR1 [ NCBI-GEO ] RYR1 [ SEEK ] RYR1 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P21817 (Uniprot)
NextProt	P21817 [Medical]
With graphics : InterPro	P21817
Splice isoforms : SwissVar	P21817 (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 : CluSTr	P21817
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 mutations	6261
Blocks (Seattle)	P21817
Human Protein Atlas	ENSG00000196218
Peptide Atlas	P21817
HPRD	01618
IPI	IPI00783826 IPI00220558 IPI00334799 IPI01010330
	Protein Interaction databases
DIP (DOE-UCLA)	P21817
IntAct (EBI)	P21817
FunCoup	ENSG00000196218
BioGRID	RYR1
IntegromeDB	RYR1
STRING (EMBL)	RYR1
	Ontologies - Pathways
QuickGO	P21817
Ontology : AmiGO	response 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-EBI	response 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 : KEGG	Calcium signaling pathway Circadian entrainment Long-term depression
Protein Interaction Database	RYR1
DoCM (Curated mutations)	RYR1
Wikipedia pathways	RYR1
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	RYR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	RYR1
dbVar	RYR1
ClinVar	RYR1
1000_Genomes	RYR1
Exome Variant Server	RYR1
SNP (GeneSNP Utah)	RYR1
SNP : HGBase	RYR1
Genetic variants : HAPMAP	RYR1
Genomic Variants (DGV)	RYR1 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000196218
Somatic Mutations in Cancer : COSMIC	RYR1
CONAN: Copy Number Analysis	RYR1
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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	19:38924340-39078204
Mutations and Diseases : HGMD	RYR1
OMIM	117000 145600 180901 255310 255320
Medgen	RYR1
NextProt	P21817 [Medical]
GENETests	RYR1
Disease Genetic Association	RYR1
Huge Navigator	RYR1 [HugePedia] RYR1 [HugeCancerGEM]
snp3D : Map Gene to Disease	6261
DGIdb (Drug Gene Interaction db)	RYR1
	General knowledge
Homologs : HomoloGene	RYR1
Homology/Alignments : Family Browser (UCSC)	RYR1
Phylogenetic Trees/Animal Genes : TreeFam	RYR1
Chemical/Protein Interactions : CTD	6261
Chemical/Pharm GKB Gene	PA34896
Clinical trial	RYR1
Cancer Resource (Charite)	ENSG00000196218
	Other databases
	Probes
	Litterature
PubMed	205 Pubmed reference(s) in Entrez
CoreMine	RYR1
GoPubMed	RYR1
iHOP	RYR1

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 18:25:46 CET 2015

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