RYR1
Sign in to saveAlso known as CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
protein-coding gene in the species Homo sapiens
Gene data
RYR1- Name
- ryanodine receptor 1
- Type
- protein-coding
- Position
- 38,433,691–38,595,273 (+)
- Aliases
- CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR
- Ensembl
- ENSG00000196218
- RefSeq RNA
- NM_000540.3, NM_001042723.2, XM_006723317.3, XM_006723319.3, XM_011527205.3
- RefSeq protein
- NP_000531.2, NP_001036188.1, XP_006723380.1, XP_006723382.1, XP_011525507.1
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].
Gene Ontology
Biological process
Molecular function
protease bindingmonoatomic ion channel activityryanodine-sensitive calcium-release channel activityryanodine-sensitive calcium-release channel activityryanodine-sensitive calcium-release channel activityryanodine-sensitive calcium-release channel activityryanodine-sensitive calcium-release channel activityryanodine-sensitive calcium-release channel activity
Pathways
Calcium signaling pathway - Homo sapiens (human)Apelin signaling pathway - Homo sapiens (human)Circadian entrainment - Homo sapiens (human)Long-term depression - Homo sapiens (human)Oxytocin signaling pathway - Homo sapiens (human)Spinocerebellar ataxia - Homo sapiens (human)Prion disease - Homo sapiens (human)Pathways of neurodegeneration - multiple diseases - Homo sapiens (human)Stimuli-sensing channelsTransport of small molecules
via MyGene.info
Gene · Ensembl
ryanodine receptor 1
- Symbol
- RYR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:38,433,691-38,595,273
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- PBB Protein RYR1 image.jpg
Show 8 more facts
- HomoloGene ID
- 68069
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6261
- genomic end
- 38595273
- genomic start
- 38433691
- chromosome
- human chromosome 19
- cytogenetic location
- 19q13.2
- expressed in
- thoracic diaphragm
Sources (7)
via Wikidata · CC0