Family

Ryanodine receptor 1 (IPR033215)

Short name: RyR1

Overlapping homologous superfamilies

None.

Family relationships

Description

The function of skeletal muscle relies on the movement of Ca2+ out of and back into the storage compartment (SR). Ryanodine receptor 1 (RyR) functions as a Ca2+-release channels, releasing Ca2+ from the SR, resulting in muscle contraction [PMID: 26793121].

Mutations in the RyR1 gene cause malignant hyperthermia 1 (MHS1), an autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia [PMID: 1354642, PMID: 1774074].

This family also includes small Bacteroides proteins that consist of a single copy of the RyR domain [PMID: 22453942]; four copies of this domains are found in the ryanodine receptor.

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

GO:0015278 calcium-release channel activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER