RYR1 (ryanodine receptor 1)

2007-02-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
CCO,MHS,MHS1,PPP1R137,RYDR,RYR,RYR-1,SKRR
FUSION GENES

Other Information

Locus ID:

NCBI: 6261
MIM: 180901
HGNC: 10483
Ensembl: ENSG00000196218

Variants:

dbSNP: 6261
ClinVar: 6261
TCGA: ENSG00000196218
COSMIC: RYR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196218ENST00000355481P21817
ENSG00000196218ENST00000359596P21817
ENSG00000196218ENST00000593322M0R0S0
ENSG00000196218ENST00000593677M0R1U6
ENSG00000196218ENST00000594335M0R014
ENSG00000196218ENST00000596431M0QZY3
ENSG00000196218ENST00000599547M0R127
ENSG00000196218ENST00000601514M0R2E2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Long-term depressionKEGGko04730
Calcium signaling pathwayKEGGhsa04020
Long-term depressionKEGGhsa04730
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD21795085
PA164749136desfluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA166122627chlorocresolChemicalClinicalAnnotation, Literature, VariantAnnotationassociatedPK25086907, 29344738
PA166128826multi-core congenital myopathyDiseaseVipGeneassociated
PA166128827exertional rhabdomyolysisDiseaseVipGeneassociated
PA166131630volatile anestheticsChemicalClinicalAnnotation, VipGeneassociatedPD10625004, 11725865, 12124989, 12411786, 12467748, 12761368, 15299003, 15537710, 16917943, 17182726, 18313359, 19018722, 19648156, 19807743, 20301325, 20837722, 20888934, 23069638, 23223104, 23628358, 24291096, 25424378, 25989378, 26031886, 26068069, 3177917, 9037193, 9873004, 10360872, 12059893, 15731587, 16163667, 19346234, 19648156, 21455645, 21965348, 22415532, 25735680, 25960145, 27382027, 27663056, 28326467, 28403410
PA166153638rs1800559VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166153940rs772226819VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155375rs1801086VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155481rs28933396VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155482rs28933397VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155516rs63749869VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155524rs111888148VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155526rs112563513VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155528rs118192116VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155529rs118192122VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155532rs118192161VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155533rs118192162VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155534rs118192163VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155535rs118192167VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155536rs118192170VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155537rs118192172VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155539rs118192176VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155540rs118192177VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155541rs118192178VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155543rs121918592VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155544rs121918593VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155545rs121918594VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155546rs121918595VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155564rs193922747VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155567rs193922770VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155568rs193922772VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155569rs193922802VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155571rs193922807VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155572rs193922809VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155573rs193922816VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155574rs193922818VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155575rs193922876VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA166155576rs193922878VariantVipGeneassociated11260227, 11573654, 11573677, 15201141, 19807743, 23628358, 24445638, 26188342, 10625004
PA444863Malignant HyperthermiaDiseaseClinicalAnnotation, DataAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPKPD10352931, 10484775, 10612851, 10618932, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19018722, 19020143, 19191329, 19191333, 19346234, 19513315, 19648156, 19685112, 19807743, 19919814, 20681998, 21282829, 21455645, 21926372, 21965348, 22030266, 22415532, 23558838, 23628358, 23736090, 23788249, 24195946, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25958340, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29344738, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8592342, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9497245, 9520251, 9543323
PA444997Muscular DiseasesDiseaseClinicalAnnotationassociatedPD21795085
PA445549RhabdomyolysisDiseaseMultilinkAnnotation, VariantAnnotationassociatedPD19807743, 27663056
PA447048Myopathy, Central CoreDiseaseClinicalAnnotation, MultilinkAnnotation, VipGeneassociatedPD10484775, 10612851, 11063719, 11575529, 12059893, 12124989, 12151923, 12208234, 12411786, 12411788, 15448513, 15731587, 16163667, 16732084, 16835904, 16917943, 17081152, 17122579, 18564801, 19648156, 20681998, 21455645, 21965348, 25611019, 25958340, 25989378, 26709912, 26951757, 29608462, 7547049, 7889656, 8220423, 9334205
PA448710caffeineChemicalClinicalAnnotation, VariantAnnotation, VipGeneassociatedPK11525881, 29344738, 9334205
PA449208dantroleneChemicalVipGeneassociated
PA449461enfluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437
PA449845halothaneChemicalClinicalAnnotation, GuidelineAnnotation, VariantAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA450106isofluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA450434methoxyfluraneChemicalClinicalAnnotation, GuidelineAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA451341sevofluraneChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotationassociatedPD10352931, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA451522succinylcholineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, VipGeneassociatedPD10625004, 11725865, 12124989, 12411786, 12467748, 12761368, 15299003, 15537710, 16917943, 17182726, 18313359, 19018722, 19648156, 19807743, 20301325, 20837722, 20888934, 23069638, 23223104, 23628358, 24291096, 25424378, 25989378, 26031886, 26068069, 3177917, 9037193, 9873004, 10352931, 10360872, 10484775, 10612851, 10700782, 10793526, 10823104, 10888602, 11063719, 11448278, 11493496, 11525881, 11553045, 11575529, 11668625, 11928716, 12059893, 12123492, 12124989, 12151923, 12208234, 12220451, 12237752, 12411786, 12411788, 12434264, 12709367, 12883402, 1354642, 14500992, 14641996, 1510267, 15108991, 15210166, 15448513, 15731587, 16163667, 16244001, 16284304, 16621918, 16732084, 16732128, 16835904, 16917943, 17081152, 17122579, 17226826, 17483490, 17667581, 17710899, 1774074, 18212565, 18306019, 18502356, 18564801, 18945287, 19020143, 19191329, 19191333, 19346234, 19648156, 19685112, 19919814, 20681998, 21282829, 21455645, 21965348, 22030266, 22415532, 23628358, 23736090, 24361844, 25086907, 25256590, 25268394, 25466363, 25611019, 25735680, 25960145, 25989378, 26381711, 26951757, 26994242, 27382027, 27663056, 27918309, 28063098, 28326467, 28403410, 29101530, 29608462, 7547049, 7586638, 7633940, 7751854, 7829078, 7889656, 8012359, 8220422, 8220423, 8602662, 8828983, 8902717, 9066328, 9334205, 9389851, 9450902, 9520251, 9543323
PA85CACNA1SGeneDataAnnotationassociated

References

Pubmed IDYearTitleCitations
170716182006Identification of cysteines involved in S-nitrosylation, S-glutathionylation, and oxidation to disulfides in ryanodine receptor type 1.94
159727232005Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.91
208392402010RYR1 mutations are a common cause of congenital myopathies with central nuclei.79
162843042006Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.75
259666942015Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186504342008S100A1 and calmodulin compete for the same binding site on ryanodine receptor.52
187138632008Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.50
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.46
224739352012Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.45

Citation

Dessen P

RYR1 (ryanodine receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45850/ryr1