RYR1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in skeletal muscle and Purkinje cells of cerebellum

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA056416
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6261

UniProt

P21817 (UniProt - Evidence at protein level)

neXtProt

NX_P21817

Antibodypedia

RYR1 antibodies


PROTEIN BROWSER

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ENST00000355481
 
ENST00000359596
 
ENST00000360985
 
ENST00000593677
 
ENST00000596431
 
ENST00000599547
 
ENST00000601514
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RYR1-001 ENSP00000347667
ENST00000355481
P21817
Show all »
Show » Show » 5033 564.7 No 8
RYR1-003 ENSP00000471601
ENST00000599547
B4DET7
Show all »
Show » 733 82.9 No 0
RYR1-006 ENSP00000472497
ENST00000601514
M0R2E2
Show all »
Show » 287 32.6 No 0
RYR1-007 ENSP00000470848
ENST00000596431
M0QZY3
Show all »
Show » 172 19.5 No 0
RYR1-009 ENSP00000472126
ENST00000593677
Show » Show » 144 15.3 No 0
RYR1-010 ENSP00000352608
ENST00000359596
P21817
Show all »
Show » Show » 5038 565.2 No 8
RYR1-201 ENSP00000354254
ENST00000360985
O75591
Show all »
Show » Show » 5032 564.6 No 7