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RYR1 ryanodine receptor 1 (skeletal) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000540 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services
NM_001042723 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 2, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


Gene Symbol RYR1
Entrez Gene ID 6261
Full Name ryanodine receptor 1 (skeletal)
Synonyms CCO, MHS, MHS1, RYDR, RYR, SKRR
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.1

Summary 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].
Disorder

MIM: 180901

{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core

mRNA Protein Product Sequence Price Select
NM_000540, 113204614 NP_000531, 113204615 ryanodine receptor 1 isoform 1 Full Length $0.00
ORF Sequence $0.00
NM_001042723, 113204616 NP_001036188, 113204617 ryanodine receptor 1 isoform 2 Full Length $0.00
ORF Sequence $0.00
KEGG
hsa04020Calcium signaling pathway
hsa04713Circadian entrainment
hsa04730Long-term depression
WikiPathways
WP289Myometrial Relaxation and Contraction Pathways
WP536Calcium Regulation in the Cardiac Cell
Homo sapiens (human)RYR1NP_000531.2
Pan troglodytes (chimpanzee)RYR1XP_003316361.1
Canis lupus familiaris (dog)RYR1XP_003638883.1
Bos taurus (cattle)RYR1NP_001193706.1
Mus musculus (house mouse)Ryr1NP_033135.2
Rattus norvegicus (Norway rat)Ryr1XP_341819.4
Danio rerio (zebrafish)ryr1bNP_001096041.1
Danio rerio (zebrafish)ryr1aXP_001923294.3
GeneCards RYR1
UniProt P21817
MIM 180901
Ensembl ENSG00000196218
HGNC 10483
HPRD 01618

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
ryanodine receptor 1
Names
ryanodine receptor 1
central core disease of muscle
type 1-like ryanodine receptor
skeletal muscle ryanodine receptor
skeletal muscle calcium release channel
sarcoplasmic reticulum calcium release channel

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