RYR1 (ryanodine receptor 1) - Rat Genome Database

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Gene: RYR1 (ryanodine receptor 1) Canis lupus familiaris
Analyze
Symbol: RYR1
Name: ryanodine receptor 1
RGD ID: 12220385
Description: ENCODES a protein that exhibits enzyme binding (ortholog); protease binding (ortholog); ryanodine-sensitive calcium-release channel activity (ortholog); INVOLVED IN calcium ion transport (ortholog); cellular response to ATP (ortholog); muscle contraction (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH ankyloglossia (ortholog); Aortic Coarctation (ortholog); arthrogryposis multiplex congenita (ortholog); FOUND IN cytoplasm (ortholog); cytoplasmic side of plasma membrane (ortholog); extrinsic component of cytoplasmic side of plasma membrane (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: ryanodine receptor 1 (skeletal)
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11114,461,350 - 114,579,577 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1114,461,348 - 114,579,493 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1113,865,988 - 113,983,252 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01115,063,307 - 115,181,223 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1115,063,305 - 115,204,391 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11114,636,271 - 114,754,225 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01114,253,994 - 114,371,830 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01115,292,565 - 115,410,455 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ankyloglossia  (ISO)
Aortic Coarctation  (ISO)
arthrogryposis multiplex congenita  (ISO)
atrial heart septal defect  (ISO)
autosomal dominant intellectual developmental disorder 26  (ISO)
Axial Myopathy, Late-Onset  (ISO)
Bronchomalacia  (ISO)
cardiomyopathy  (ISO)
caudal regression syndrome  (ISO)
centronuclear myopathy  (ISO)
clubfoot  (ISO)
Congenital Hip Dislocation  (ISO)
congenital muscular dystrophy  (ISO)
congenital myasthenic syndrome  (ISO)
congenital myasthenic syndrome 12  (ISO)
congenital myopathy  (ISO)
congenital myopathy 1A  (ISO)
congenital myopathy 1B  (ISO)
congenital myopathy 4A  (ISO)
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber  (ISO)
congenital structural myopathy  (ISO)
congestive heart failure  (ISO)
Developmental Disabilities  (ISO)
distal arthrogryposis  (ISO)
Dwarfism  (ISO)
Dyskinesias  (ISO)
dystonia  (ISO)
fetal akinesia deformation sequence syndrome  (ISO)
fetal akinesia deformation sequence syndrome 1  (ISO)
gastroesophageal reflux disease  (ISO)
genetic disease  (ISO)
gestational diabetes  (ISO)
glaucoma  (ISO)
GNE myopathy  (ISO)
Heart Block  (ISO)
Heat Stroke  (ISO)
Hydrops Fetalis  (ISO)
intracranial vasospasm  (ISO)
isolated elevated serum creatine phosphokinase levels  (ISO)
King Denborough syndrome  (ISO)
Lead Poisoning  (ISO)
learning disability  (ISO)
Left Ventricular Hypertrophy  (ISO)
long QT syndrome  (ISO)
Malignant Fever  (ISO)
malignant hyperthermia  (ISO)
Malignant Hypothermia  (ISO)
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  (ISO)
Muscle Hypotonia  (ISO)
Muscle Weakness  (ISO)
muscular disease  (ISO)
Myalgia  (ISO)
myocardial infarction  (ISO)
myopathy  (ISO)
Myotonia  (ISO)
nephrotoxicity  (ISO)
neuromuscular disease  (ISO)
obesity  (ISO)
obstructive sleep apnea  (ISO)
osteochondrodysplasia  (ISO)
osteoporosis  (ISO)
panhypopituitarism  (ISO)
pre-eclampsia  (ISO)
primary pulmonary hypertension  (ISO)
ptosis  (ISO)
pulmonary hypertension  (ISO)
renal cell carcinoma  (ISO)
respiratory failure  (ISO)
Rhabdomyolysis  (ISO)
rigid spine muscular dystrophy 1  (ISO)
scoliosis  (ISO)
Sepsis  (ISO)
Spinal Cord Injuries  (ISO)
Uncombable Hair Syndrome 1  (ISO)
ventricular septal defect  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:11575546   PMID:19053230   PMID:22301074   PMID:25609705   PMID:30032202  


Genomics

Comparative Map Data
RYR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11114,461,350 - 114,579,577 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1114,461,348 - 114,579,493 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1113,865,988 - 113,983,252 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01115,063,307 - 115,181,223 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1115,063,305 - 115,204,391 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11114,636,271 - 114,754,225 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01114,253,994 - 114,371,830 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01115,292,565 - 115,410,455 (-)NCBIUU_Cfam_GSD_1.0
RYR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381938,433,691 - 38,587,564 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1938,433,691 - 38,595,273 (+)EnsemblGRCh38hg38GRCh38
GRCh371938,924,331 - 39,078,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,616,180 - 43,770,044 (+)NCBINCBI36Build 36hg18NCBI36
Build 341943,616,179 - 43,770,012NCBI
Celera1935,726,452 - 35,880,238 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1935,371,495 - 35,526,332 (+)NCBIHuRef
CHM1_11938,924,701 - 39,079,134 (+)NCBICHM1_1
T2T-CHM13v2.01941,235,876 - 41,391,545 (+)NCBIT2T-CHM13v2.0
Ryr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39728,702,765 - 28,824,599 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl728,702,769 - 28,824,604 (-)EnsemblGRCm39 Ensembl
GRCm38729,003,340 - 29,125,179 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl729,003,344 - 29,125,179 (-)EnsemblGRCm38mm10GRCm38
MGSCv37729,788,359 - 29,910,170 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36728,712,104 - 28,833,911 (-)NCBIMGSCv36mm8
Celera723,565,768 - 23,695,212 (-)NCBICelera
Cytogenetic Map7B1NCBI
cM Map716.94NCBI
Ryr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8193,420,078 - 93,551,305 (-)NCBIGRCr8
mRatBN7.2184,292,578 - 84,423,824 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl184,292,578 - 84,423,812 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0187,959,596 - 88,066,252 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl187,959,712 - 88,066,101 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0189,135,622 - 89,241,311 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4184,116,098 - 84,254,503 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera178,682,691 - 78,812,242 (-)NCBICelera
Cytogenetic Map1q21NCBI
Ryr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955468879,951 - 1,000,036 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955468879,807 - 1,000,118 (-)NCBIChiLan1.0ChiLan1.0
RYR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22044,724,700 - 44,882,541 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11946,595,023 - 46,752,872 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01935,527,466 - 35,685,446 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11944,099,196 - 44,256,470 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1944,106,036 - 44,256,327 (+)Ensemblpanpan1.1panPan2
Ryr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934913,020,295 - 13,133,060 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368011,185,733 - 1,298,289 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368011,185,615 - 1,298,416 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RYR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl647,343,768 - 47,458,458 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1647,339,759 - 47,458,457 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2642,840,240 - 42,960,110 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap6q1.2NCBI
RYR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1633,080,443 - 33,234,478 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl633,080,758 - 33,213,788 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607311,024,332 - 11,181,890 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ryr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479411,888,289 - 12,004,314 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479411,888,211 - 12,004,457 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RYR1
1427 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 6
Low 13 2 4 2 12 8 5
Below cutoff 5 5 9 4 2 4 6 5 6

Sequence


Reference Sequences
RefSeq Acc Id: ENSCAFT00000009509   ⟹   ENSCAFP00000008828
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1114,461,348 - 114,579,493 (-)Ensembl
RefSeq Acc Id: ENSCAFT00000048904   ⟹   ENSCAFP00000037375
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1114,461,348 - 114,579,493 (-)Ensembl
RefSeq Acc Id: XM_003638834   ⟹   XP_003638882
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.11114,461,350 - 114,579,577 (-)NCBI
Dog10K_Boxer_Tasha1113,865,988 - 113,983,252 (-)NCBI
Sequence:
RefSeq Acc Id: XM_038468222   ⟹   XP_038324150
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.11114,636,271 - 114,754,225 (-)NCBI
RefSeq Acc Id: XM_038528976   ⟹   XP_038384904
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.01115,292,565 - 115,410,455 (-)NCBI
RefSeq Acc Id: XM_038593251   ⟹   XP_038449179
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.01114,253,994 - 114,371,830 (-)NCBI
RefSeq Acc Id: XM_038657076   ⟹   XP_038513004
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01115,063,307 - 115,181,223 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_003638882   ⟸   XM_003638834
- UniProtKB: A0A8C0YXZ8 (UniProtKB/TrEMBL),   A0A8I3RU53 (UniProtKB/TrEMBL),   A0A8P0NPB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000008828   ⟸   ENSCAFT00000009509
RefSeq Acc Id: ENSCAFP00000037375   ⟸   ENSCAFT00000048904
RefSeq Acc Id: XP_038324150   ⟸   XM_038468222
RefSeq Acc Id: XP_038449179   ⟸   XM_038593251
RefSeq Acc Id: XP_038513004   ⟸   XM_038657076
- UniProtKB: A0A8C0YXZ8 (UniProtKB/TrEMBL),   A0A8I3RU53 (UniProtKB/TrEMBL),   A0A8P0NPB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038384904   ⟸   XM_038528976
- UniProtKB: A0A8C0YXZ8 (UniProtKB/TrEMBL),   A0A8I3RU53 (UniProtKB/TrEMBL),   A0A8P0NPB2 (UniProtKB/TrEMBL)
Protein Domains
B30.2/SPRY   MIR   RIH   Ryanodine receptor junctional solenoid


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000005896 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00030012929 UniProtKB/TrEMBL
  ENSCAFG00040012217 UniProtKB/TrEMBL
  ENSCAFG00845005309 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000009509.5 UniProtKB/TrEMBL
  ENSCAFT00000009547.5 UniProtKB/TrEMBL
  ENSCAFT00000048904.4 UniProtKB/TrEMBL
  ENSCAFT00000067712.2 UniProtKB/TrEMBL
  ENSCAFT00000080029.2 UniProtKB/TrEMBL
  ENSCAFT00030023876.1 UniProtKB/TrEMBL
  ENSCAFT00030023992.1 UniProtKB/TrEMBL
  ENSCAFT00040025426.1 UniProtKB/TrEMBL
  ENSCAFT00040025588.1 UniProtKB/TrEMBL
  ENSCAFT00040025775.1 UniProtKB/TrEMBL
  ENSCAFT00040025837.1 UniProtKB/TrEMBL
  ENSCAFT00040025902.1 UniProtKB/TrEMBL
  ENSCAFT00040025987.1 UniProtKB/TrEMBL
  ENSCAFT00845009688.1 UniProtKB/TrEMBL
  ENSCAFT00845009710 ENTREZGENE
  ENSCAFT00845009710.1 UniProtKB/TrEMBL
  ENSCAFT00845009740.1 UniProtKB/TrEMBL
  ENSCAFT00845009748.1 UniProtKB/TrEMBL
  ENSCAFT00845009758.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/TrEMBL
  1.10.490.160 UniProtKB/TrEMBL
  2.60.120.920 UniProtKB/TrEMBL
  2.80.10.50 UniProtKB/TrEMBL
  6.20.350.10 UniProtKB/TrEMBL
  IP3 receptor type 1 binding core, RIH domain UniProtKB/TrEMBL
InterPro B30.2/SPRY UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/TrEMBL
  FAM98 UniProtKB/TrEMBL
  Ins145_P3_rcpt UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/TrEMBL
  MIR_dom_sf UniProtKB/TrEMBL
  MIR_motif UniProtKB/TrEMBL
  RIH_assoc-dom UniProtKB/TrEMBL
  RIH_dom UniProtKB/TrEMBL
  Ryan_recept UniProtKB/TrEMBL
  Ryanodine_IP3_receptor UniProtKB/TrEMBL
  Ryanodine_rcpt UniProtKB/TrEMBL
  Ryanrecept_TM4-6 UniProtKB/TrEMBL
  RYDR_Jsol UniProtKB/TrEMBL
  RyR/IP3R_RIH_dom_sf UniProtKB/TrEMBL
  SPRY1_RyR UniProtKB/TrEMBL
  SPRY2_RyR UniProtKB/TrEMBL
  SPRY3_RyR UniProtKB/TrEMBL
  SPRY_dom UniProtKB/TrEMBL
KEGG Report cfa:606491 UniProtKB/TrEMBL
NCBI Gene RYR1 ENTREZGENE
PANTHER B30.2/SPRY DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PROTEIN FAM98C UniProtKB/TrEMBL
  PTHR31353 UniProtKB/TrEMBL
  RYANODINE RECEPTOR 1 UniProtKB/TrEMBL
Pfam DUF2465 UniProtKB/TrEMBL
  Ins145_P3_rec UniProtKB/TrEMBL
  Ion_trans UniProtKB/TrEMBL
  MIR UniProtKB/TrEMBL
  RIH_assoc UniProtKB/TrEMBL
  RR_TM4-6 UniProtKB/TrEMBL
  RYDR_ITPR UniProtKB/TrEMBL
  RYDR_Jsol UniProtKB/TrEMBL
  RyR UniProtKB/TrEMBL
  SPRY UniProtKB/TrEMBL
PRINTS RYANODINER UniProtKB/TrEMBL
PROSITE B302_SPRY UniProtKB/TrEMBL
  MIR UniProtKB/TrEMBL
SMART MIR UniProtKB/TrEMBL
  SPRY UniProtKB/TrEMBL
Superfamily-SCOP SSF100909 UniProtKB/TrEMBL
  SSF47473 UniProtKB/TrEMBL
  SSF49899 UniProtKB/TrEMBL
  SSF82109 UniProtKB/TrEMBL
UniProt A0A8C0NAU1_CANLF UniProtKB/TrEMBL
  A0A8C0SJC2_CANLF UniProtKB/TrEMBL
  A0A8C0SJR5_CANLF UniProtKB/TrEMBL
  A0A8C0SK37_CANLF UniProtKB/TrEMBL
  A0A8C0SKL6_CANLF UniProtKB/TrEMBL
  A0A8C0YXZ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3MR55_CANLF UniProtKB/TrEMBL
  A0A8I3MXS3_CANLF UniProtKB/TrEMBL
  A0A8I3MZP2_CANLF UniProtKB/TrEMBL
  A0A8I3N092_CANLF UniProtKB/TrEMBL
  A0A8I3RU53 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0N8I7_CANLF UniProtKB/TrEMBL
  A0A8P0NPB2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0T5W3_CANLF UniProtKB/TrEMBL
  A0A8P0TFC8_CANLF UniProtKB/TrEMBL
  Q6JDH1_CANLF UniProtKB/TrEMBL
  Q95LG6_CANLF UniProtKB/TrEMBL
  Q95LG7_CANLF UniProtKB/TrEMBL
VGNC ID VGNC:45821 ENTREZGENE