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RYR1

GENERAL INFORMATION

Gene name

 RYR1

Gene description

 Ryanodine receptor 1 (skeletal)

Protein class

 Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in skeletal muscle and Purkinje cells of cerebellum

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA056416
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

Gene name

 RYR1 (HGNC Symbol)

Synonyms

 CCO, MHS, MHS1, PPP1R137, RYR

Description

 Ryanodine receptor 1 (skeletal) (HGNC Symbol)

Entrez gene 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]

Chromosome

 19

Cytoband

 q13.2

Chromosome location (bp)

 38433699 - 38587564

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000196218 (version 83.38)

Entrez gene

 6261

UniProt

 P21817 (UniProt - Evidence at protein level)

neXtProt

 NX_P21817

Antibodypedia

 RYR1 antibodies

PROTEIN BROWSER
RYR1-001
RYR1-003
RYR1-006
RYR1-007
RYR1-009
RYR1-010
RYR1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RYR1-001
ENSP00000347667
ENST00000355481
P21817 [Direct mapping]
Ryanodine receptor 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0003151 [outflow tract morphogenesis]
GO:0005216 [ion channel activity]
GO:0005219 [ryanodine-sensitive calcium-release channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006936 [muscle contraction]
GO:0014701 [junctional sarcoplasmic reticulum membrane]
GO:0014802 [terminal cisterna]
GO:0014808 [release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0015278 [calcium-release channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016529 [sarcoplasmic reticulum]
GO:0031000 [response to caffeine]
GO:0031674 [I band]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0034220 [ion transmembrane transport]
GO:0043588 [skin development]
GO:0043931 [ossification involved in bone maturation]
GO:0048741 [skeletal muscle fiber development]
GO:0051209 [release of sequestered calcium ion into cytosol]
GO:0051480 [cytosolic calcium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:0070588 [calcium ion transmembrane transport]
GO:0071313 [cellular response to caffeine]
Show all
 5033 aa
564.7 kDa 		No 8
RYR1-003
ENSP00000471601
ENST00000599547
M0R127 [Direct mapping]
Ryanodine receptor 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 733 aa
82.9 kDa 		No 0
RYR1-006
ENSP00000472497
ENST00000601514
M0R2E2 [Direct mapping]
Ryanodine receptor 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 287 aa
32.6 kDa 		No 0
RYR1-007
ENSP00000470848
ENST00000596431
M0QZY3 [Direct mapping]
Ryanodine receptor 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 172 aa
19.5 kDa 		No 0
RYR1-009
ENSP00000472126
ENST00000593677
M0R1U6 [Direct mapping]
Ryanodine receptor 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005219 [ryanodine-sensitive calcium-release channel activity]
GO:0005623 [cell]
GO:0006874 [cellular calcium ion homeostasis]
GO:0016021 [integral component of membrane]
GO:0070588 [calcium ion transmembrane transport]
Show all
 144 aa
15.3 kDa 		No 0
RYR1-010
ENSP00000352608
ENST00000359596
P21817 [Direct mapping]
Ryanodine receptor 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002020 [protease binding]
GO:0003151 [outflow tract morphogenesis]
GO:0005216 [ion channel activity]
GO:0005219 [ryanodine-sensitive calcium-release channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005737 [cytoplasm]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0005938 [cell cortex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006936 [muscle contraction]
GO:0014701 [junctional sarcoplasmic reticulum membrane]
GO:0014802 [terminal cisterna]
GO:0014808 [release of sequestered calcium ion into cytosol by sarcoplasmic reticulum]
GO:0015278 [calcium-release channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016529 [sarcoplasmic reticulum]
GO:0019899 [enzyme binding]
GO:0030314 [junctional membrane complex]
GO:0030315 [T-tubule]
GO:0031000 [response to caffeine]
GO:0031674 [I band]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0034220 [ion transmembrane transport]
GO:0043234 [protein complex]
GO:0043588 [skin development]
GO:0043931 [ossification involved in bone maturation]
GO:0048741 [skeletal muscle fiber development]
GO:0051209 [release of sequestered calcium ion into cytosol]
GO:0051480 [cytosolic calcium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:0070588 [calcium ion transmembrane transport]
GO:0071313 [cellular response to caffeine]
Show all
 5038 aa
565.2 kDa 		No 8
RYR1-201
ENSP00000354254
ENST00000360985
A0A0A0MRH2 [Direct mapping]
Ryanodine receptor 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005219 [ryanodine-sensitive calcium-release channel activity]
GO:0005262 [calcium channel activity]
GO:0005515 [protein binding]
GO:0005623 [cell]
GO:0006811 [ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 5032 aa
564.6 kDa 		No 7

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.