HUMAN:RYR1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	RYR1 (synonyms: RYDR)
Protein Name(s)	Ryanodine receptor 1 RYR-1 RyR1 Skeletal muscle calcium release channel Skeletal muscle ryanodine receptor Skeletal muscle-type ryanodine receptor Type 1 ryanodine receptor
External Links
UniProt	P21817
EMBL	J05200 U48508 U48449 U48450 U48451 U48452 U48453 U48454 U48455 U48456 U48457 U48458 U48459 U48460 U48461 U48462 U48463 U48464 U48465 U48466 U48467 U48468 U48469 U48470 U48471 U48472 U48473 U48474 U48475 U48476 U48477 U48478 U48479 U48480 U48481 U48482 U48483 U48484 U48485 U48486 U48487 U48488 U48489 U48490 U48491 U48492 U48493 U48494 U48495 U48496 U48497 U48498 U48499 U48500 U48501 U48502 U48503 U48504 U48505 U48506 U48507 AC067969 AC005933 AC011469 M91455 S78717 S77392
CCDS	CCDS33011.1 CCDS42563.1
PIR	A35041
RefSeq	NP_000531.2 NP_001036188.1
UniGene	Hs.466664
ProteinModelPortal	P21817
SMR	P21817
BioGrid	112173
DIP	DIP-29708N
IntAct	P21817
MINT	MINT-1605046
STRING	9606.ENSP00000352608
BindingDB	P21817
ChEMBL	CHEMBL1846
DrugBank	DB00201 DB01219 DB04786
GuidetoPHARMACOLOGY	747
TCDB	1.A.3.1.2
PhosphoSite	P21817
DMDM	108935904
PaxDb	P21817
PRIDE	P21817
Ensembl	ENST00000355481 ENST00000359596
GeneID	6261
KEGG	hsa:6261
UCSC	uc002oit.3 uc002oiu.3
CTD	6261
GeneCards	GC19P038924
GeneReviews	RYR1
H-InvDB	HIX0039957
HGNC	HGNC:10483
HPA	HPA056416
MIM	117000 145600 180901 255310 255320
neXtProt	NX_P21817
Orphanet	169189 324581 597 98905 99741 423 178145
PharmGKB	PA34896
eggNOG	NOG247670
GeneTree	ENSGT00760000119152
HOGENOM	HOG000231428
HOVERGEN	HBG006699
InParanoid	P21817
KO	K04961
OMA	QCSATVL
OrthoDB	EOG71K622
PhylomeDB	P21817
TreeFam	TF315244
Reactome	REACT_160189
ChiTaRS	RYR1
GeneWiki	RYR1
GenomeRNAi	6261
NextBio	24319
PRO	PR:P21817
Proteomes	UP000005640
Bgee	P21817
CleanEx	HS_RYR1
ExpressionAtlas	P21817
Genevestigator	P21817
GO	GO:0005938 GO:0005737 GO:0070062 GO:0031674 GO:0005887 GO:0030314 GO:0014701 GO:0005886 GO:0016529 GO:0033017 GO:0005790 GO:0030315 GO:0014802 GO:0005262 GO:0005509 GO:0015278 GO:0005516 GO:0005219 GO:0005245 GO:0006816 GO:0071313 GO:0051480 GO:0034220 GO:0006936 GO:0043931 GO:0003151 GO:0051209 GO:0014808 GO:0031000 GO:0001666 GO:0048741 GO:0043588 GO:0055085
Gene3D	1.10.238.10 1.25.10.30
InterPro	IPR001870 IPR013320 IPR011992 IPR014821 IPR005821 IPR016093 IPR013662 IPR000699 IPR013333 IPR003032 IPR015925 IPR009460 IPR003877
PANTHER	PTHR13715
Pfam	PF08709 PF00520 PF02815 PF08454 PF06459 PF01365 PF02026 PF00622
PRINTS	PR00795
SMART	SM00472 SM00449
SUPFAM	SSF100909 SSF49899 SSF82109
PROSITE	PS50188 PS50919

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:22480578^[1]	ECO:0000314			F		Figure 4A and Figure 4B	complete CACAO 5706
	GO:0006936	muscle contraction	PMID:2298749^[2]	ECO:0000255		PMID:2298749^[2]	P		Figure 1B shows the nuclrotide and deduced amino acid sequence of the cDNA encoding the human ryanodine receptors.	complete CACAO 9449
part_of	GO:0014802	terminal cisterna	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	C		Seeded From UniProt	complete
part_of	GO:1990425	ryanodine receptor complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	C		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	C		Seeded From UniProt	complete
part_of	GO:0031301	integral component of organelle membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	C		Seeded From UniProt	complete
involved_in	GO:0071277	cellular response to calcium ion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	P		Seeded From UniProt	complete
involved_in	GO:0051289	protein homotetramerization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	P		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:16163667^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0071313	cellular response to caffeine	PMID:16163667^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051209	release of sequestered calcium ion into cytosol	PMID:16163667^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051209	release of sequestered calcium ion into cytosol	PMID:11741831^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:11741831^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	PMID:7556644^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	F		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	F		Seeded From UniProt	complete
involved_in	GO:0071313	cellular response to caffeine	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	P		Seeded From UniProt	complete
involved_in	GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	P		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:22480578^[1]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:26115329^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0071313	cellular response to caffeine	PMID:26115329^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0048763	calcium-induced calcium release activity	PMID:26115329^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0051480	regulation of cytosolic calcium ion concentration	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	P		Seeded From UniProt	complete
involved_in	GO:0051209	release of sequestered calcium ion into cytosol	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	P		Seeded From UniProt	complete
involved_in	GO:0031000	response to caffeine	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	P		Seeded From UniProt	complete
part_of	GO:0016529	sarcoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	C		Seeded From UniProt	complete
part_of	GO:0014802	terminal cisterna	PMID:1374404^[8]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	C		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	P		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11716	F		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	F		Seeded From UniProt	complete
involved_in	GO:0001666	response to hypoxia	PMID:19120137^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071313	cellular response to caffeine	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
involved_in	GO:0048741	skeletal muscle fiber development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
involved_in	GO:0043931	ossification involved in bone maturation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
involved_in	GO:0043588	skin development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	C		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:F1LMY4	C		Seeded From UniProt	complete
part_of	GO:0031674	I band	PMID:11206130^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
part_of	GO:0005938	cell cortex	PMID:11206130^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:11206130^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:11206130^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	F		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	F		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	F		Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:E9PZQ0	P		Seeded From UniProt	complete
involved_in	GO:0051209	release of sequestered calcium ion into cytosol	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0010051 MGI:MGI:96623 MGI:MGI:99659 PANTHER:PTN001416417 RGD:1586637 RGD:2933 RGD:69649 UniProtKB:P21817 UniProtKB:Q92736	P		Seeded From UniProt	complete
enables	GO:0048763	calcium-induced calcium release activity	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000346461 RGD:620314 RGD:68952 UniProtKB:P21817 UniProtKB:Q92736	F		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000346461 RGD:1586637 RGD:620314	C		Seeded From UniProt	complete
part_of	GO:0034704	calcium channel complex	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99685 PANTHER:PTN000346461 UniProtKB:Q92736	C		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99659 MGI:MGI:99684 MGI:MGI:99685 PANTHER:PTN000346461 RGD:1586637 RGD:620314 UniProtKB:P21817	C		Seeded From UniProt	complete
part_of	GO:0030659	cytoplasmic vesicle membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000346459 dictyBase:DDB_G0292564	C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99685 PANTHER:PTN000346461 RGD:620314 UniProtKB:Q92736	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001416417 RGD:2933 RGD:620314 UniProtKB:P21817 UniProtKB:Q14571 UniProtKB:Q14573	C		Seeded From UniProt	complete
part_of	GO:0005790	smooth endoplasmic reticulum	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99659 MGI:MGI:99685 PANTHER:PTN000346461	C		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001416417 RGD:2934 RGD:69649	F		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:21873635^[11]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99659 MGI:MGI:99685 PANTHER:PTN000346461 RGD:1586637 RGD:620314 RGD:68952 UniProtKB:P21817 UniProtKB:Q92736 ZFIN:ZDB-GENE-070705-417	F		Seeded From UniProt	complete
involved_in	GO:0071313	cellular response to caffeine	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0051209	release of sequestered calcium ion into cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0048741	skeletal muscle fiber development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0043931	ossification involved in bone maturation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0043588	skin development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
part_of	GO:0030314	junctional membrane complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
enables	GO:0019899	enzyme binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	F		Seeded From UniProt	complete
part_of	GO:0016529	sarcoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
involved_in	GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
part_of	GO:0005790	smooth endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	C		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	F		Seeded From UniProt	complete
enables	GO:0005245	voltage-gated calcium channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	F		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	F		Seeded From UniProt	complete
involved_in	GO:0003151	outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	P		Seeded From UniProt	complete
enables	GO:0002020	protease binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PZQ0 ensembl:ENSMUSP00000137123	F		Seeded From UniProt	complete
enables	GO:0005216	ion channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	F		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009460 InterPro:IPR013333	F		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000699	F		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002048	F		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR013333 InterPro:IPR015925	P		Seeded From UniProt	complete
involved_in	GO:0006874	cellular calcium ion homeostasis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009460	P		Seeded From UniProt	complete
enables	GO:0015278	calcium-release channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR033215	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000699 InterPro:IPR005821 InterPro:IPR016093 InterPro:IPR036300	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR009460	C		Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005821	P		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000699	P		Seeded From UniProt	complete
enables	GO:0015278	calcium-release channel activity	PMID:9030597^[12]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	PMID:9030597^[12]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	PMID:7511586^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:2298749^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005790	smooth endoplasmic reticulum	PMID:2298749^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0014701	junctional sarcoplasmic reticulum membrane	PMID:19095005^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005219	ryanodine-sensitive calcium-release channel activity	PMID:19095005^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1903779	regulation of cardiac conduction	Reactome:R-HSA-5578775	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0034220	ion transmembrane transport	Reactome:R-HSA-983712	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	Reactome:R-HSA-2855020	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0016529	sarcoplasmic reticulum	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0703 UniProtKB-SubCell:SL-0239	C		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	F		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0109	P		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	P		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0112	F		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
part_of	GO:0033017	sarcoplasmic reticulum membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0241	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Lacava, C et al. (2012) 3,5-Di-t-butyl catechol is a potent human ryanodine receptor 1 activator, not suitable for the diagnosis of malignant hyperthermia susceptibility. Pharmacol. Res. 66 80-7 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Zorzato, F et al. (1990) Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J. Biol. Chem. 265 2244-56 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Monnier, N et al. (2005) Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum. Mutat. 26 413-25 PubMed GONUTS page
↑ ^4.0 ^4.1 Tilgen, N et al. (2001) 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. Hum. Mol. Genet. 10 2879-87 PubMed GONUTS page
↑ Lynn, S et al. (1995) Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle. FEBS Lett. 372 6-12 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Murayama, T et al. (2015) Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. PLoS ONE 10 e0130606 PubMed GONUTS page
↑ Jayaraman, T et al. (1992) FK506 binding protein associated with the calcium release channel (ryanodine receptor). J. Biol. Chem. 267 9474-7 PubMed GONUTS page
↑ Jurkovicova, D et al. (2008) Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line. Ann. N. Y. Acad. Sci. 1148 421-7 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 Tanaka, H et al. (2000) Triad proteins and intracellular Ca2+ transients during development of human skeletal muscle cells in aneural and innervated cultures. J. Muscle Res. Cell. Motil. 21 507-26 PubMed GONUTS page
↑ ^11.00 ^11.01 ^11.02 ^11.03 ^11.04 ^11.05 ^11.06 ^11.07 ^11.08 ^11.09 ^11.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^12.0 ^12.1 Richter, M et al. (1997) Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J. Biol. Chem. 272 5256-60 PubMed GONUTS page
↑ Otsu, K et al. (1994) The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J. Biol. Chem. 269 9413-5 PubMed GONUTS page
↑ ^14.0 ^14.1 Yamazaki, D et al. (2009) New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. Pharmacol. Ther. 121 265-72 PubMed GONUTS page

[PMID:22480578-1] 1.0 ^1.1 Lacava, C et al. (2012) 3,5-Di-t-butyl catechol is a potent human ryanodine receptor 1 activator, not suitable for the diagnosis of malignant hyperthermia susceptibility. Pharmacol. Res. 66 80-7 PubMed GONUTS page

[PMID:2298749-2] 2.0 ^2.1 ^2.2 ^2.3 Zorzato, F et al. (1990) Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J. Biol. Chem. 265 2244-56 PubMed GONUTS page

[PMID:16163667-3] 3.0 ^3.1 ^3.2 Monnier, N et al. (2005) Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum. Mutat. 26 413-25 PubMed GONUTS page

[PMID:11741831-4] 4.0 ^4.1 Tilgen, N et al. (2001) 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. Hum. Mol. Genet. 10 2879-87 PubMed GONUTS page

[PMID:7556644-5] Lynn, S et al. (1995) Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle. FEBS Lett. 372 6-12 PubMed GONUTS page

[PMID:19056867-6] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:26115329-7] 7.0 ^7.1 ^7.2 Murayama, T et al. (2015) Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. PLoS ONE 10 e0130606 PubMed GONUTS page

[PMID:1374404-8] Jayaraman, T et al. (1992) FK506 binding protein associated with the calcium release channel (ryanodine receptor). J. Biol. Chem. 267 9474-7 PubMed GONUTS page

[PMID:19120137-9] Jurkovicova, D et al. (2008) Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line. Ann. N. Y. Acad. Sci. 1148 421-7 PubMed GONUTS page

[PMID:11206130-10] 10.0 ^10.1 ^10.2 ^10.3 Tanaka, H et al. (2000) Triad proteins and intracellular Ca2+ transients during development of human skeletal muscle cells in aneural and innervated cultures. J. Muscle Res. Cell. Motil. 21 507-26 PubMed GONUTS page

[PMID:21873635-11] 11.00 ^11.01 ^11.02 ^11.03 ^11.04 ^11.05 ^11.06 ^11.07 ^11.08 ^11.09 ^11.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9030597-12] 12.0 ^12.1 Richter, M et al. (1997) Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J. Biol. Chem. 272 5256-60 PubMed GONUTS page

[PMID:7511586-13] Otsu, K et al. (1994) The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J. Biol. Chem. 269 9413-5 PubMed GONUTS page

[PMID:19095005-14] 14.0 ^14.1 Yamazaki, D et al. (2009) New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. Pharmacol. Ther. 121 265-72 PubMed GONUTS page

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