AutismKB 2.0

Annotation Details for RYR1


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Basic Information Top
Gene Symbol:RYR1 ( CCO,MHS,MHS1,RYDR,RYR,SKRR )
Gene Full Name: ryanodine receptor 1 (skeletal)
Band: 19q13.2
Quick LinksEntrez ID:6261; OMIM: 180901; Uniprot ID:RYR1_HUMAN; ENSEMBL ID: ENSG00000196218; HGNC ID: 10483
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm11206130
GO:0005790IEA-smooth endoplasmic reticulum-
GO:0005886IDA-plasma membrane11206130
GO:0005887TAS-integral component of plasma membrane2298749
GO:0005938IDA-cell cortex11206130
GO:0014701TAS-junctional sarcoplasmic reticulum membrane19095005
GO:0014802ISS-terminal cisterna1374404
GO:0016529ISS-sarcoplasmic reticulum-
GO:0030314IEA-junctional membrane complex-
GO:0030315IEA-T-tubule-
GO:0031301ISS-integral component of organelle membrane-
GO:0031674IDA-I band11206130
GO:0033017IDA-sarcoplasmic reticulum membrane7556644
GO:0033017ISS-sarcoplasmic reticulum membrane-
GO:0033017TAS-sarcoplasmic reticulum membrane-
GO:0070062IDA-extracellular exosome19056867
GO:1990425ISS-ryanodine receptor complex-
GO ID Evidence Qualifier GO_term References
GO:0002020IEA-protease binding-
GO:0005219IDA-ryanodine-sensitive calcium-release channel activity22480578
GO:0005219IMP-ryanodine-sensitive calcium-release channel activity11741831
GO:0005219ISS-ryanodine-sensitive calcium-release channel activity-
GO:0005219TAS-ryanodine-sensitive calcium-release channel activity19095005
GO:0005245ISS-voltage-gated calcium channel activity-
GO:0005262ISS-calcium channel activity-
GO:0005509IBA-calcium ion binding-
GO:0005509ISS-calcium ion binding-
GO:0005515IPI-protein binding23414517
GO:0005516ISS-calmodulin binding-
GO:0005524ISS-ATP binding-
GO:0015278TAS-calcium-release channel activity9030597
GO:0048763IMP-calcium-induced calcium release activity26115329
GO ID Evidence Qualifier GO_term References
GO:0001666IDA-response to hypoxia19120137
GO:0003151ISS-outflow tract morphogenesis-
GO:0006816ISS-calcium ion transport-
GO:0006936ISS-muscle contraction-
GO:0014808ISS-release of sequestered calcium ion into cytosol by sarcoplasmic reticulum-
GO:0031000ISS-response to caffeine-
GO:0034220TAS-ion transmembrane transport-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0043588ISS-skin development-
GO:0043931ISS-ossification involved in bone maturation-
GO:0048741ISS-skeletal muscle fiber development-
GO:0051209IMP-release of sequestered calcium ion into cytosol11741831
GO:0051209ISS-release of sequestered calcium ion into cytosol-
GO:0051289ISS-protein homotetramerization-
GO:0051480ISS-regulation of cytosolic calcium ion concentration-
GO:0071277ISS-cellular response to calcium ion-
GO:0071313IMP-cellular response to caffeine16163667
GO:0071313ISS-cellular response to caffeine-
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RYR1FKBP1A10857011171121 11279144 12704193 Affinity Capture-Western; Reconstituted Complex
RYR1FKBP1A11217311171121 11279144 12704193 Affinity Capture-Western; Reconstituted Complex
TRDNRYR11156277721813 9890886 10212196 14638677 Far Western; Protein-peptide; Reconstituted Complex
TRDNRYR11121737721813 9890886 10212196 14638677 Far Western; Protein-peptide; Reconstituted Complex
S100A1RYR11121739298970 Reconstituted Complex
S100A1RYR11121799298970 Reconstituted Complex
RYR2RYR111217312213830 Affinity Capture-Western
RYR2RYR111217412213830 Affinity Capture-Western
HOMER3RYR111217312223488 Affinity Capture-Western; Reconstituted Complex
HOMER3RYR111484312223488 Affinity Capture-Western; Reconstituted Complex
HOMER2RYR111217312223488 Affinity Capture-Western; Reconstituted Complex
HOMER2RYR111484412223488 Affinity Capture-Western; Reconstituted Complex
HOMER1RYR111217312223488 12810060 Affinity Capture-Western; Reconstituted Complex
HOMER1RYR111484512223488 12810060 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99659
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-020108-2'