RYR1 ryanodine receptor 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:10483
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; KDS; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; CMYO1A; CMYO1B; CMYP1A; CMYP1B; 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: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 106

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38433691..38587564)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41235876..41391545)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (38924331..39078204)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
Title: Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Title: Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Title: Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Title: A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.
Title: Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Title: Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Title: Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Title: Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Title: Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Pancreatitis in RYR1-related disorders.
Title: Pancreatitis in RYR1-related disorders.

Submit: New GeneRIF Correction See all GeneRIFs (245)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Associated conditions

Description	Tests
Central core myopathy MedGen: C0751951 OMIM: 117000 GeneReviews: Not available	not available
Congenital multicore myopathy with external ophthalmoplegia MedGen: C1850674 OMIM: 255320 GeneReviews: Not available	not available
Congenital myopathy with fiber type disproportion MedGen: C0546264 GeneReviews: Not available	not available
King Denborough syndrome MedGen: C1840365 OMIM: 619542 GeneReviews: Not available	not available
Malignant hyperthermia, susceptibility to, 1 MedGen: C2930980 OMIM: 145600 GeneReviews: Malignant Hyperthermia Susceptibility	not available
Statin-induced myopathy MedGen: CN181199 GeneReviews: Not available	not available

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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S626E (e-PCR)
- UniSTS:150550

RH11112 (e-PCR)
- UniSTS:18967

RYR1 (e-PCR)
- UniSTS:253019

RH71249 (e-PCR)
- UniSTS:61819

RYR1 (e-PCR)
- UniSTS:264846

SHGC-6129 (e-PCR)
- UniSTS:23502

PMC22438P1 (e-PCR)
- UniSTS:272107

Ryr2 (e-PCR), detects polymorphism
- UniSTS:144365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium-induced calcium release activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables intracellularly gated calcium channel activity	TAS Traceable Author Statement more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ryanodine-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ryanodine-sensitive calcium-release channel activity	TAS Traceable Author Statement more info	PubMed
enables voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to caffeine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to caffeine	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification involved in bone maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to caffeine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skin development	ISS Inferred from Sequence or Structural Similarity more info
involved_in striated muscle contraction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
part_of calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in junctional sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
located_in organelle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of ryanodine receptor complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in smooth endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal cisterna	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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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)

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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

NG_008866.1 RefSeqGene

Range

5001..158865

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_766

mRNA and Protein(s)

NM_000540.3 → NP_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, Q16314, Q16368, Q9NPK1, Q9P1U4

UniProtKB/TrEMBL

A0AAQ5BH76

Related

ENSP00000352608.2, ENST00000359596.8

Conserved Domains (12) summary

smart00472
Location:210 → 263

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:642 → 793

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1072 → 1204

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4765 → 4949

Ion_trans; Ion transport protein

pfam01365
Location:443 → 631

RYDR_ITPR; RIH domain

pfam02026
Location:850 → 940

RyR; RyR domain

pfam02815
Location:211 → 389

MIR; MIR domain

pfam06459
Location:4383 → 4671

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3879 → 3992

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4083 → 4133

EF-hand_8; EF-hand domain pair

cd12879
Location:1418 → 1566

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl19745
Location:8 → 203

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
NM_001042723.2 → NP_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/TrEMBL

A0AAQ5BH76

Related

ENSP00000347667.3, ENST00000355481.8

Conserved Domains (12) summary

smart00472
Location:210 → 263

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:642 → 793

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1072 → 1204

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4760 → 4944

Ion_trans; Ion transport protein

pfam01365
Location:443 → 631

RYDR_ITPR; RIH domain

pfam02026
Location:850 → 940

RyR; RyR domain

pfam02815
Location:211 → 389

MIR; MIR domain

pfam06459
Location:4378 → 4666

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3874 → 3987

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4078 → 4128

EF-hand_8; EF-hand domain pair

cd12879
Location:1418 → 1566

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl19745
Location:8 → 203

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

38433691..38587564

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527205.3 → XP_011525507.1 ryanodine receptor 1 isoform X3

UniProtKB/TrEMBL

A0A8I5KSR1, A0AAQ5BH76

Related

ENSP00000508999.2, ENST00000689936.2

Conserved Domains (12) summary

smart00472
Location:210 → 263

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:642 → 793

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1072 → 1204

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4736 → 4920

Ion_trans; Ion transport protein

pfam01365
Location:443 → 631

RYDR_ITPR; RIH domain

pfam02026
Location:850 → 940

RyR; RyR domain

pfam02815
Location:211 → 389

MIR; MIR domain

pfam06459
Location:4383 → 4642

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3879 → 3992

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4083 → 4133

EF-hand_8; EF-hand domain pair

cd12879
Location:1418 → 1566

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl19745
Location:8 → 203

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006723317.3 → XP_006723380.1 ryanodine receptor 1 isoform X1

UniProtKB/TrEMBL

A0AAQ5BH76

Conserved Domains (12) summary

smart00472
Location:210 → 263

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:642 → 793

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1072 → 1204

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4759 → 4943

Ion_trans; Ion transport protein

pfam01365
Location:443 → 631

RYDR_ITPR; RIH domain

pfam02026
Location:850 → 940

RyR; RyR domain

pfam02815
Location:211 → 389

MIR; MIR domain

pfam06459
Location:4377 → 4665

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3873 → 3986

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4077 → 4127

EF-hand_8; EF-hand domain pair

cd12879
Location:1418 → 1566

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl19745
Location:8 → 203

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_006723319.3 → XP_006723382.1 ryanodine receptor 1 isoform X2

UniProtKB/TrEMBL

A0AAQ5BH76

Conserved Domains (12) summary

smart00472
Location:210 → 263

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

cd12877
Location:642 → 793

SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)

cd12878
Location:1072 → 1204

SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)

pfam00520
Location:4754 → 4938

Ion_trans; Ion transport protein

pfam01365
Location:443 → 631

RYDR_ITPR; RIH domain

pfam02026
Location:850 → 940

RyR; RyR domain

pfam02815
Location:211 → 389

MIR; MIR domain

pfam06459
Location:4372 → 4660

RR_TM4-6; Ryanodine Receptor TM 4-6

pfam08454
Location:3868 → 3981

RIH_assoc; RyR and IP3R Homology associated

pfam13833
Location:4072 → 4122

EF-hand_8; EF-hand domain pair

cd12879
Location:1418 → 1566

SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)

cl19745
Location:8 → 203

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
XM_047439202.1 → XP_047295158.1 ryanodine receptor 1 isoform X4

UniProtKB/TrEMBL

M0R014

Related

ENSP00000470927.2, ENST00000594335.6

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

41235876..41391545

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321708.1 → XP_054177683.1 ryanodine receptor 1 isoform X3

UniProtKB/TrEMBL

A0A8I5KSR1
XM_054321706.1 → XP_054177681.1 ryanodine receptor 1 isoform X1
XM_054321707.1 → XP_054177682.1 ryanodine receptor 1 isoform X2
XM_054321709.1 → XP_054177684.1 ryanodine receptor 1 isoform X4

UniProtKB/TrEMBL

M0R014