InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ryr1

Summary

InnateDB Protein

IDBP-722260.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Ryr1

Protein Name

Synonyms

AI528790; Ryr; RYR-1; skrr;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000137123

InnateDB Gene

IDBG-165403 (Ryr1)

Protein Structure

UniProt Annotation

Function

Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis. {ECO:0000269PubMed:18003898, ECO:0000269PubMed:18268335, ECO:0000269PubMed:21156754, ECO:0000269PubMed:22036948, ECO:0000269PubMed:7515481, ECO:0000269PubMed:7621815}.

Subcellular Localization

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C- terminus seem to be cytoplasmic.

Disease Associations

Tissue Specificity

Detected in muscle and myotubes (at protein level). Ubiquitous. Detected in diaphragm, skeletal muscle, esophagus, spleen, submaxillary gland, adrenal gland, cerebellum, brain and in testis germ cells. {ECO:0000269PubMed:21156754, ECO:0000269PubMed:22036948, ECO:0000269PubMed:7621815, ECO:0000269PubMed:7876312}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
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:0019899	enzyme binding

Biological Process

GO:0001666	response to hypoxia
GO:0003151	outflow tract morphogenesis
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0006874	cellular calcium ion homeostasis
GO:0006936	muscle contraction
GO:0006937	regulation of muscle contraction
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
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:0055085	transmembrane transport
GO:0070588	calcium ion transmembrane transport
GO:0071313	cellular response to caffeine

Cellular Component

GO:0005737	cytoplasm
GO:0005790	smooth endoplasmic reticulum
GO:0005886	plasma membrane
GO:0005938	cell cortex
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016529	sarcoplasmic reticulum
GO:0030314	junctional membrane complex
GO:0030315	T-tubule
GO:0031674	I band
GO:0033017	sarcoplasmic reticulum membrane
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

MGI:99659

InterPro

IPR000699 RIH (RyR and IP3R Homology) domain
IPR001870 B30.2/SPRY domain
IPR003032 Ryanodine receptor Ryr
IPR003877 SPla/RYanodine receptor SPRY
IPR003961 Fibronectin, type III
IPR005821 Ion transport domain
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR009460 Ryanodine Receptor TM 4-6
IPR013333 Ryanodine receptor
IPR013662 RyR/IP3R Homology associated domain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
IPR016093 MIR motif
IPR018355 SPla/RYanodine receptor subgroup

PFAM