RYR1 - Gene info - The Human Protein Atlas

Gene name

RYR1 (HGNC Symbol)

Synonyms

CCO, MHS, MHS1, 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

Cytoband

q13.2

Chromosome location (bp)

38924339 - 39078204

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196218 (version 75.37)

Entrez gene

6261

UniProt

P21817 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RYR1-001

ENSP00000347667
ENST00000355481

P21817
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P21817 [Direct mapping]
Ryanodine receptor 1
O75591 [Target identity:2%; Query identity:100%]
Type 1-like ryanodine receptor

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   8TM proteins predicted by MDM
   TMHMM predicted membrane proteins
   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
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   # TM segments-based
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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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:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005737 [cytoplasm]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005887 [integral to 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 to membrane]
GO:0016529 [sarcoplasmic reticulum]
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: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:0070588 [calcium ion transmembrane transport]
GO:0071313 [cellular response to caffeine]

5033

564.7

RYR1-002

ENSP00000470927
ENST00000594335

O75591
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O75591 [Target identity:13%; Query identity:100%]
Type 1-like ryanodine receptor

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THUMBUP predicted membrane proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005262 [calcium channel activity]
GO:0016020 [membrane]
GO:0070588 [calcium ion transmembrane transport]

886

100.2

RYR1-003

ENSP00000471601
ENST00000599547

B4DET7
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B4DET7 [Target identity:92%; Query identity:100%]
cDNA FLJ51803, highly similar to Ryanodine receptor 1

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Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

733

82.9

RYR1-006

ENSP00000472497
ENST00000601514

M0R2E2
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M0R2E2 [Target identity:100%; Query identity:100%]
Ryanodine receptor 1

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Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

287

32.6

RYR1-007

ENSP00000470848
ENST00000596431

M0QZY3
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M0QZY3 [Target identity:100%; Query identity:100%]
Ryanodine receptor 1

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Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

172

19.5

RYR1-008

ENSP00000471404
ENST00000593322

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Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

8.5

RYR1-009

ENSP00000472126
ENST00000593677

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Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005219 [ryanodine-sensitive calcium-release channel activity]
GO:0006874 [cellular calcium ion homeostasis]
GO:0016021 [integral to membrane]

144

15.3

RYR1-010

ENSP00000352608
ENST00000359596

P21817
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P21817 [Direct mapping]
Ryanodine receptor 1
B4DET7 [Target identity:13%; Query identity:100%]
cDNA FLJ51803, highly similar to Ryanodine receptor 1
O75591 [Target identity:2%; Query identity:100%]
Type 1-like ryanodine receptor

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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:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005737 [cytoplasm]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005887 [integral to 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 to 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:0070588 [calcium ion transmembrane transport]
GO:0071313 [cellular response to caffeine]

5038

565.2

RYR1-201

ENSP00000354254
ENST00000360985

P21817
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5033

564.5

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