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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RYR1 Gene

protein-coding GIFtS: 68
GCID: GC19P038924

ryanodine receptor 1 (skeletal)

(Previous name: central core disease of muscle )
(Previous symbols: MHS, MHS1, CCO)

Explore 57 diseases affiliated with
RYR1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ryanodine Receptor 1 (Skeletal)¹ ²		RYDR² ³
CCO¹ ² ⁵		RYR-1² ³
MHS¹ ² ⁵		SKRR²
MHS1¹ ²		Ryanodine Receptor 1²
RYR¹ ²		Ryanodine Receptor Type1²
Central Core Disease Of Muscle¹ ²		Sarcoplasmic Reticulum Calcium Release Channel²
Skeletal Muscle Calcium Release Channel² ³		Type 1-Like Ryanodine Receptor²
Skeletal Muscle Ryanodine Receptor² ³		RyR1³
Type 1 Ryanodine Receptor² ³		Skeletal Muscle-Type Ryanodine Receptor³

External Ids:	HGNC: 10483¹	Entrez Gene: 6261²	Ensembl: ENSG00000196218⁷	OMIM: 180901⁵	UniProtKB: P21817³

Export aliases for RYR1 gene to outside databases

Previous GC identifers: GC19P039538 GC19P039315 GC19P043600 GC19P043616 GC19P035371

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RYR1:

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release

channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule.

Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore

myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been

described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and

thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very

high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can

also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+)

signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for

normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity)

Gene Wiki entry for RYR1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RYR1 gene promoter:
AhR CREB p53 NRSF form 1 deltaCREB NRSF form 2 YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RYR1 promoter sequence

Search SABiosciences Chromatin IP Primers for RYR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RYR1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.1

RYR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RYR1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P038924: view genomic region (about GC identifiers)

Start:	38,924,340 bp from pter	End:	39,078,204 bp from pter
Size:	153,865 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817 (See protein sequence)

Recommended Name: Ryanodine receptor 1

Size: 5038 amino acids; 565176 Da

Subunit: Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium inhibits

the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed conformation of

the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel.

Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity (By

similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated

very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1)

Subcellular location: Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane

protein (Probable). Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus

and C-terminus seem to be cytoplasmic

Miscellaneous: Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with

high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine

concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is

activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is

inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity)

Miscellaneous: Coexpression of normal and mutant Thr-4898 RYR1 in a 1:1 ratio, produces RYR1 channels with normal

halothane and caffeine sensitivities, but maximal levels of Ca(2+) release are reduced by 67%. Binding of

[3H]ryanodine indicates that the heterozygous channel is activated by Ca(2+) concentrations 4-fold lower than normal.

Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca(2+) level and a

significantly reduced luminal Ca(2+) level. These data indicated a leaky channel, possibly caused by a reduction in

the Ca(2+) concentration required for channel activation. Comparison with 2 other coexpressed mutant/normal channels

suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that has been investigated, and

this level of abnormality is reflected in the severe and penetrant phenotype of affected CCD individuals

Secondary accessions: Q16314 Q16368 Q9NPK1 Q9P1U4

Alternative splicing: 3 isoforms: P21817-1 P21817-2 P21817-3

Explore the universe of human proteins at neXtProt for RYR1: NX_P21817

Post-translational modifications:

Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated

very high-level exercise increases phosphorylation at Ser-2843¹

Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P21817

RYR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000531.2 NP_001036188.1

ENSEMBL proteins:

ENSP00000352608 ENSP00000347667 ENSP00000354254

Reactome Protein details: P21817
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	Uscn Proteins for RYR1

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	11206130
GO:0005790	smooth endoplasmic reticulum	TAS	2298749
GO:0005886	plasma membrane	IDA	11206130
GO:0005887	integral to plasma membrane	TAS	2298749

RYR1 for ontologies About GeneDecksing

RYR1 Antibody Products:

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	Uscn ELISAs and CLIAs for RYR1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RYR1 for domains About GeneDecksing

14 InterPro domains/families (see first 5):

IPR014821 Ins145_P3_rcpt

IPR003032 Ryanodine_rcpt

IPR001870 B30.2/SPRY

IPR011992 EF-hand-like_dom

IPR000699 Ca-rel_channel

IPR013662 RIH_assoc-dom

IPR003877 SPRY_rcpt

IPR009460 Ryanrecept_TM4-6

IPR005821 Ion_trans_dom

IPR018355 SPla/RYanodine_receptor_subgr

IPR013333 Ryan_recept

IPR016093 MIR_motif

IPR008985 ConA-like_lec_gl_sf

IPR015925 Ryanodine_recept-rel

Graphical View of Domain Structure for InterPro Entry P21817

ProtoNet protein and cluster: P21817

5 Blocks protein families:

IPB000699 Intracellular calcium-release channel

IPB003608 MIR domain

IPB009460 Ryanodine Receptor TM 4-6

IPB013333 Ryanodine receptor signature

IPB013662 RyR and IP3R Homology associated

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Domain: The calcium release channel activity resides in the C-terminal region while the remaining part of the protein

constitutes the 'foot' structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule

(By similarity)

Similarity: Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily

Similarity: Contains 3 B30.2/SPRY domains

Similarity: Contains 5 MIR domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Function: Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and

thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very

high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can

also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+)

signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for

normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity)

Genatlas biochemistry entry for RYR1:

ryanodine receptor 1,controlling intracellular Ca2+ levels by releasing Ca2+ from the sarcoplasmic reticulum,expressed

in skeletal and cardiac muscle,and involved in the control of cellular activities of B cells,triggered by the

dehydrine receptor(s)

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		hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IEA	--
GO:0004872	receptor activity	--	--
GO:0005219	ryanodine-sensitive calcium-release channel activity	TAS	19095005
GO:0005245	voltage-gated calcium channel activity	ISS	--
GO:0005262	calcium channel activity	ISS	--

RYR1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for RYR1: Ryr1^tm1Alle Ryr1^tm1Tno
     15 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ryr1):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	growth/size	homeostasis/metabolism	integument	limbs/digits/tail
mortality/aging	muscle	other	respiratory system	skeleton

RYR1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

G Protein Signaling Pathways

	Signal transduction cAMP signaling	0.44			Signal transduction_PKA signaling	0.23
	Signal transduction_cAMP signaling	0.44			Signal transduction PKA signaling	0.23

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Signal transduction Calcium signaling

Signal transduction Calcium signaling

1.00

Signal transduction_Calcium signaling

0.97

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

Myometrial Relaxation and Contraction Pathways

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for RYR1

	Signal transduction Calcium signaling
	G-protein signaling G-Protein alpha-s signaling cascades
	Signal transduction cAMP signaling
	Signal transduction PKA signaling

5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RYR1 (see all 9)

	Activation of PKA through GPCR
	PKA Signaling
	Netrin Signaling
	Presenilin-Mediated Signaling
	nNOS Signaling in Skeletal Muscle

1 Cell Signaling Technology (CST) Pathway for RYR1

Ca, cAMP and Lipid Signaling

4 GeneGo (Thomson Reuters) Pathways for RYR1

	G-protein signaling G-Protein alpha-s signaling cascades
	Signal transduction cAMP signaling
	Signal transduction PKA signaling
	Signal transduction Calcium signaling

2 BioSystems Pathways for RYR1

	Myometrial Relaxation and Contraction Pathways
	Calcium Regulation in the Cardiac Cell

3 Reactome Pathways for RYR1

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

2 Kegg Pathways (Kegg details for RYR1):

	Calcium signaling pathway
	Long-term depression

RYR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RYR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/52 Interacting proteins for RYR1 (P21817^{1, 2, 3} ENSP00000352608⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLCG1	P19174²^,³, ENSP00000244007⁴	MINT-8112747 I2D: score=3 STRING: ENSP00000244007
H2AFZ	P0C0S5²^,³	MINT-19797 I2D: score=1
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IDA	19120137
GO:0003151	outflow tract morphogenesis	ISS	--
GO:0006816	calcium ion transport	ISS	--
GO:0006936	muscle contraction	ISS	--
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	--

RYR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RYR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RYR1

2 HMDB Compounds for RYR1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

3 DrugBank Compounds for RYR1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Dantrolene	Dantrolene Sodium (see all 3)	7261-97-4	target	antagonist	15023108 7488490 12167662 6704779 16945924 12666006 11752352 7362049 9924249
Caffeine	Cafeina (see all 7)	58-08-2	target	--	17514358
Suramin	Bayer 205 (see all 6)	145-63-1	target	agonist	16056233

10/98 Novoseek chemical compound relationships for RYR1 gene (see all 98) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ryanodine	98.3	1193	11226332 (5), 12151923 (4), 18353852 (4), 19802526 (4) (see all 99)
4-chloro-m-cresol	90.6	79	12761215 (10), 16737973 (7), 16601083 (7), 11990295 (3) (see all 23)
dihydropyridine	88.3	124	11179064 (4), 16302848 (2), 16357209 (2), 18556650 (2) (see all 71)
calcium	84	1057	19767002 (8), 11964231 (6), 11232598 (5), 11741831 (5) (see all 99)
pcb 95	83.8	5	19337518 (1)
caffeine	83.7	109	12151923 (3), 11477079 (3), 11990295 (3), 11360934 (2) (see all 66)
cyclic adp-ribose	81.2	77	7826401 (4), 12966165 (3), 7925959 (3), 17190906 (2) (see all 28)
inositol 1,4,5 trisphosphate	78.2	43	18174159 (2), 12921667 (2), 15160398 (1), 15212806 (1) (see all 37)
dantrolene	77.3	32	12167662 (3), 11585849 (2), 16945924 (2), 15160398 (1) (see all 21)
ryanodol	76.3	2	10871634 (1), 11331348 (1)

1 PharmGKB related drug/compound annotation for RYR1 gene

Drug/compound	PharmGKB Annotation
hmg coa reductase inhibitors	CA

About this table

Search CenterWatch for drugs/clinical trials and news about RYR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RYR1 gene (2 alternative transcripts):

NM_000540.2 NM_001042723.1

Unigene Cluster for RYR1:

Ryanodine receptor 1 (skeletal)

Hs.466664 [show with all ESTs]

Unigene Representative Sequence: NM_000540

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000359596(uc002oit.3) ENST00000355481(uc002oiu.3) ENST00000360985(uc002oiv.1 uc010xuf.1)

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Additional cDNA sequence:

AB209425.1 AF075460.1 AK293785.1 J05200.1

10 DOTS entries:

DT.113052 DT.100019702 DT.121502810 DT.100748838 DT.121502805 DT.65286971 DT.75101790 DT.97788775

DT.40260655 DT.91978919

24/107 AceView cDNA sequences (see all 107):

BE764184 BQ185433 BM805728 F34519 CB129444 BQ962760 F34300 AA808825

NM_000540 F31264 BQ189108 F15827 BG830167 CA427848 BE764223 F21877

F36856 AF075460 F00754 BE764204 BI457578 BI000785 BE764174 AI382958

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RYR1 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36a	·	36b	^	37a	·	37b	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50	^
SP1:																									-
SP2:
SP3:
SP4:
SP5:

ExUns:	51	^	52	^	53	^	54	^	55	^	56	^	57	^	58a	·	58b	^	59	^	60	^	61a	·	61b	·	61c	^	62	^	63	^	64	^	65	^	66	^	67	^	68	^	69	^	70
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for RYR1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RYR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTCCTGA

About this image

RYR1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RYR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RYR1

SOURCE GeneReport for Unigene cluster: Hs.466664

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus)

SABiosciences Custom PCR Arrays for RYR1

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RYR1 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ryr1^{1 , 5}	ryanodine receptor 1, skeletal muscle^{1, 5}	88.55(n)¹ 96.02(a)¹		7 (16.94 cM)⁵ 20190¹ NM_009109.2¹ NP_033135.2¹ 29003340⁵
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	86(a) 84(a) (see all 3)	many → 1 many → 1 (see all 3)	GL343427.1(685880-727627) GL343427.1(594163-625539)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13303²	Transcribed sequence with strong similarity to protein more	85.53(n)		BX726845.1
zebrafish (Danio rerio)	Actinopterygii	ryr1b¹	ryanodine receptor 1b (skeletal)	71.86(n) 78(a)		570245 NM_001102571.1 NP_001096041.1
fruit fly (Drosophila melanogaster)	Insecta	Rya-r44F³	muscle contraction ryanodine-sensitive calcium-release more	57(a)		44F2 --
worm (Caenorhabditis elegans)	Secernentea	unc-68³	ryanodine receptor	40(a)		V(6904616-6926793) --
wheat (Triticum aestivum)	Liliopsida	Ta.9269²	Triticum aestivum transcribed sequence with weak similarity more	72.17(n)		BQ838200.1

ENSEMBL Gene Tree for RYR1 (if available)
TreeFam Gene Tree for RYR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RYR1 gene

RYR2² ITPR3² ITPR2² ITPR1² RYR3²

2 SIMAP similar genes for RYR1 using alignment to 11 protein entries: RYR1_HUMAN (see all proteins):

RYR3 RYR2

RYR1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118192160^1,2	C	non-pathogenic	38933001(+)	`CCCCCA/GATCTG`	4	N D	mis¹		0	--	--	--	--
rs118192113^1,2	C	non-pathogenic	38933035(+)	`GCAGTA/CCCTGT`	4	Y S	mis¹		0	--	--	--	--
rs118192115^1,2	C	non-pathogenic	38937124(+)	`GACGGA/GAGGTC`	4	E G	mis¹		0	--	--	--	--
rs118192117^1,2	C	non-pathogenic	38942486(+)	`CCGCAC/TGATCC`	4	T M	mis¹		0	--	--	--	--
rs118192118^1,2	C	non-pathogenic	38943494(+)	`GGGCTC/TGGGGC`	4	S L	mis¹		0	--	--	--	--
rs118192119^1,2	C	non-pathogenic	38945968(+)	`CAGCCA/GAGTCC`	4	K E	mis¹		0	--	--	--	--
rs118192120^1,2	C	non-pathogenic	38973951(+)	`CAGCCA/GCCATG`	4	T A	mis¹		0	--	--	--	--
rs118192121^1,2	C	non-pathogenic	38987550(+)	`TTGACA/CACAAT`	4	N H	mis¹		0	--	--	--	--
rs118192124^1,2	C	non-pathogenic	38991276(+)	`CCCTGC/TGGATC`	4	R W	mis¹		0	--	--	--	--
rs118192123^1,2	C	non-pathogenic	38991280(+)	`GCGGAC/TCCGCG`	4	T I	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RYR1 (38924340 - 39078204 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RYR1
1 CNV: 50139
1 Indel: 102838
Human Gene Mutation Database (HGMD): RYR1

Locus Specific Mutation Databases (LSDB): RYR1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RYR1 for disorders           About GeneDecksing

OMIM gene information: 180901
OMIM disorders: 145600  117000  255320
UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817

Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]. MH is an

autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to

anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such

as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are

hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated

with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro'

contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone

and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone

or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively)

Defects in RYR1 are a cause of central core disease of muscle (CCD) [MIM:117000]. CCD is an autosomal dominant

congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is

observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the

delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the

severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected

skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain

with oxidative and phosphorylase histochemical techniques

Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]; also

known as multicore myopathy with external ophthalmoplegia or minicore myopathy with external ophthalmoplegia. MMD is a

clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor

development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy

shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas

termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration

or significant endomysial fibrosis, are present in multiminicore disease

Defects in RYR1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]; also

known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a genetically heterogeneous disorder in which

there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However,

these findings are not specific and can be found in many different myopathic and neuropathic conditions

Note=Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients

display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status

constantly improves and patients are minimally affected at adulthood

20/57 diseases for RYR1 (see all 57): About MalaCards

minicore myopathy with external ophthalmoplegia malignant hyperthermia susceptibility malignant hyperthermia 3-methylglutaconic aciduria

congenital neuromuscular disease with uniform type 1 fiber arrhythmogenic right ventricular dysplasia myopathy congenital fiber-type disproportion

ophthalmoplegia 3 methylglutaconic aciduria type iv hypokalemic periodic paralysis king denborough syndrome

malignant hyperthermia susceptibility type 1 central core myopathy mitochondrial encephalomyopathy ventricular tachycardia

centronuclear myopathy neuromuscular disease myotonic dystrophy myasthenia gravis

4 diseases from the University of Copenhagen DISEASES database for RYR1:

Malignant hyperthermia Myopathy Thymoma Neuropathy

10/36 Novoseek disease relationships for RYR1 gene (see all 36) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
central core disease	96.4	114	12565913 (4), 17538032 (2), 12883401 (2), 11741831 (2) (see all 65)
myopathy, congenital	86.4	20	17483490 (2), 11274444 (1), 14670767 (1), 15564033 (1) (see all 13)
ventricular tachycardia, catecholaminergic polymorphic	75	7	15951021 (1), 19167631 (1), 18006483 (1), 18362417 (1) (see all 7)
muscle contracture	71	2	1341035 (1), 19807743 (1)
contracture	70.7	14	12151923 (3), 18564801 (2), 9334205 (1), 7633940 (1) (see all 6)
myopathy	69.7	45	16940308 (3), 17190947 (3), 17033962 (3), 18171678 (2) (see all 24)
myasthenia gravis	59.8	22	8021674 (5), 7499495 (1), 9397486 (1), 17536276 (1) (see all 13)
thymoma	56.5	48	7499495 (5), 10896269 (5), 11182151 (4), 9736058 (4) (see all 17)
hypokalemic periodic paralysis	49.5	2	9307247 (1), 15336973 (1)
myopathies nemaline	48.4	3	12565913 (1), 15336973 (1), 18312400 (1)

GeneTests: RYR1

Central Core Disease

Multiminicore Disease

Malignant Hyperthermia Susceptibility

Genetic Association Database (GAD): RYR1
Human Genome Epidemiology (HuGE) Navigator: RYR1 (10 documents)

Export disorders for RYR1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RYR1 gene, integrated from 9 sources (see all 866):
(articles sorted by number of sources associating them with RYR1)

Utopia: connect your pdf to the dynamic
world of online information

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. (PubMed id 7881417)^{1, 2, 4, 9} Phillips M.S....McLennan D.H. (1994)
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. (PubMed id 15448513)^{1, 2, 4} Sei Y.... Muldoon S.M. (2004)
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. (PubMed id 12059893)^{1, 2, 4} Rueffert H....Froster U.G. (2002)
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. (PubMed id 7829078)^{1, 2, 4} Quane K.A....McCarthy T.V. (1994)
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. (PubMed id 11741831)^{2, 4, 9} Tilgen N....Treves S. (2001)
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. (PubMed id 18253926)^{1, 2, 9} Monnier N....Lunardi J. (2008)
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. (PubMed id 12883402)^{2, 4, 9} Loke J.C....MacLennan D.H. (2003)
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. (PubMed id 11709545)^{1, 2, 9} Monnier N.... Lunardi J. (2001)
Increasing the number of diagnostic mutations in malignant hyperthermia. (PubMed id 19191329)^{1, 2, 9} Levano S....Girard T. (2009)
Central core disease is due to RYR1 mutations in more than 90% of patients. (PubMed id 16621918)^{1, 3, 9} Wu S....Nishino I. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6261	HGNC: 10483	AceView: RYR1	Ensembl:ENSG00000196218	euGenes: HUgn6261
ECgene: RYR1	Kegg: 6261	H-InvDB: RYR1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RYR1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RYR1
Wikipedia	http://en.wikipedia.org/wiki/Ryanodine_receptor
Wikipedia	http://en.wikipedia.org/wiki/RYR1

Intellectual Property for RYR1 gene
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Patent Information for RYR1 gene:
Search GeneIP for patents involving RYR1

GeneCards and IP:
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ryanodine receptor 1 (skeletal)

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Neurodegenerative Diseases
Multiminicore Disease
Centronuclear myopathy
MYOPATHY, CONGENITAL
Death Sudden Cardiac
VENTRICULAR ARRHYTHMIA
Rhabdomyolysis
Thymoma
Arrhythmogenic Right Ventricular Dysplasia
Alzheimers Disease
Myasthenia Gravis
neurodegeneration
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Asthenia
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
disability
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Cancer
ENCEPHALOPATHY
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HEART FAILURE
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acute pancreatitis
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RYR1 Gene

ryanodine receptor 1 (skeletal)

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