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RYR1 ryanodine receptor 1 [ Homo sapiens (human) ]

Gene ID: 6261, updated on 18-Aug-2020

Summary

Official Symbol
RYR1provided by HGNC
Official Full Name
ryanodine receptor 1provided by HGNC
Primary source
HGNC:HGNC:10483
See related
Ensembl:ENSG00000196218 MIM:180901
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCO; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; PPP1R137
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]
Expression
Broad expression in prostate (RPKM 3.0), esophagus (RPKM 2.5) and 15 other tissues See more
Orthologs

Genomic context

See RYR1 in Genome Data Viewer
Location:
19q13.2
Exon count:
106
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38433691..38587564)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38924340..39078204)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sprouty related EVH1 domain containing 3 Neighboring gene family with sequence similarity 98 member C Neighboring gene RAS guanyl releasing protein 4 Neighboring gene uncharacterized LOC107985290 Neighboring gene uncharacterized LOC105372397 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3 subunit K

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2015-11-12)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2015-11-12)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM PubMed
tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-induced calcium release activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-induced calcium release activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protease binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ryanodine-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
ryanodine-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
calcium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to caffeine IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to caffeine ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
ossification involved in bone maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
response to caffeine ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
skin development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
I band IDA
Inferred from Direct Assay
more info
PubMed 
T-tubule IEA
Inferred from Electronic Annotation
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of organelle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
junctional membrane complex IEA
Inferred from Electronic Annotation
more info
 
junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ryanodine receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
smooth endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal cisterna ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
ryanodine receptor 1
Names
central core disease of muscle
protein phosphatase 1, regulatory subunit 137
ryanodine receptor 1 (skeletal)
sarcoplasmic reticulum calcium release channel
skeletal muscle calcium release channel
skeletal muscle ryanodine receptor
type 1-like ryanodine receptor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008866.1 RefSeqGene

    Range
    5001..158865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_766

mRNA and Protein(s)

  1. NM_000540.3NP_000531.2  ryanodine receptor 1 isoform 1

    See identical proteins and their annotated locations for NP_000531.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC005933, AC011469, AC067969
    Consensus CDS
    CCDS33011.1
    UniProtKB/Swiss-Prot
    P21817
    Related
    ENSP00000352608.2, ENST00000359596.8
    Conserved Domains (12) summary
    smart00472
    Location:210263
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:642793
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47654949
    Ion_trans; Ion transport protein
    pfam01365
    Location:443631
    RYDR_ITPR; RIH domain
    pfam02026
    Location:850940
    RyR; RyR domain
    pfam02815
    Location:211389
    MIR; MIR domain
    pfam06459
    Location:43834671
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38793992
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40834133
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14181566
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:8203
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  2. NM_001042723.2NP_001036188.1  ryanodine receptor 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC005933, AC011469, BI000785, BP231595, J05200
    Consensus CDS
    CCDS42563.1
    UniProtKB/Swiss-Prot
    P21817
    Related
    ENSP00000347667.3, ENST00000355481.8
    Conserved Domains (12) summary
    smart00472
    Location:210263
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:642793
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47604944
    Ion_trans; Ion transport protein
    pfam01365
    Location:443631
    RYDR_ITPR; RIH domain
    pfam02026
    Location:850940
    RyR; RyR domain
    pfam02815
    Location:211389
    MIR; MIR domain
    pfam06459
    Location:43784666
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38743987
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40784128
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14181566
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:8203
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38433691..38587564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527205.2XP_011525507.1  ryanodine receptor 1 isoform X3

    Conserved Domains (12) summary
    smart00472
    Location:210263
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:642793
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47364920
    Ion_trans; Ion transport protein
    pfam01365
    Location:443631
    RYDR_ITPR; RIH domain
    pfam02026
    Location:850940
    RyR; RyR domain
    pfam02815
    Location:211389
    MIR; MIR domain
    pfam06459
    Location:43834642
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38793992
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40834133
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14181566
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:8203
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  2. XM_006723317.2XP_006723380.1  ryanodine receptor 1 isoform X1

    Conserved Domains (12) summary
    smart00472
    Location:210263
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:642793
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47594943
    Ion_trans; Ion transport protein
    pfam01365
    Location:443631
    RYDR_ITPR; RIH domain
    pfam02026
    Location:850940
    RyR; RyR domain
    pfam02815
    Location:211389
    MIR; MIR domain
    pfam06459
    Location:43774665
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38733986
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40774127
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14181566
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:8203
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  3. XM_006723319.2XP_006723382.1  ryanodine receptor 1 isoform X2

    Conserved Domains (12) summary
    smart00472
    Location:210263
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:642793
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    pfam00520
    Location:47544938
    Ion_trans; Ion transport protein
    pfam01365
    Location:443631
    RYDR_ITPR; RIH domain
    pfam02026
    Location:850940
    RyR; RyR domain
    pfam02815
    Location:211389
    MIR; MIR domain
    pfam06459
    Location:43724660
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:38683981
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:40724122
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:14181566
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:8203
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RNA

  1. XR_001753735.1 RNA Sequence

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