ryr1a

ID

ZDB-GENE-020108-2

Name

ryanodine receptor 1a (skeletal)

Symbol

ryr1a Nomenclature History

Previous Names

ryr1
ryraa (1)
ryanodine receptor 1a (slow muscle) (1)

Type

protein_coding_gene

Location

Chr: 10 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ryanodine-sensitive calcium-release channel activity. Involved in nervous system development; skeletal muscle fiber development; and smoothened signaling pathway. Acts upstream of or within skeletal muscle contraction. Predicted to be located in sarcoplasmic reticulum membrane. Is expressed in adaxial cell; slow muscle cell; somite; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in heart disease (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

13 figures from 9 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ryr1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital myopathy 1A	Alliance	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	117000
congenital myopathy 1B	Alliance	Congenital myopathy 1B, autosomal recessive	255320
King Denborough syndrome	Alliance	King-Denborough syndrome	619542
		{Malignant hyperthermia susceptibility 1}	145600

Associated With ryr1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000699	RIH domain
Domain	IPR001870	B30.2/SPRY domain
Domain	IPR003032	Ryanodine receptor Ryr
Domain	IPR003877	SPRY domain
Domain	IPR005821	Ion transport domain
Domain	IPR009460	Ryanodine Receptor TM 4-6
Domain	IPR013662	RyR/IP3R Homology associated domain
Domain	IPR014821	Inositol 1,4,5-trisphosphate/ryanodine receptor
Domain	IPR016093	MIR motif
Domain	IPR035761	Ryanodine receptor, SPRY domain 1
Domain	IPR035762	Ryanodine receptor, SPRY domain 3
Domain	IPR035764	Ryanodine receptor, SPRY domain 2
Domain	IPR048581	Ryanodine receptor, junctional solenoid domain
Family	IPR013333	Ryanodine receptor
Family	IPR015925	Ryanodine/Inositol 1,4,5-trisphosphate receptor
Homologous_superfamily	IPR011992	EF-hand domain pair
Homologous_superfamily	IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily	IPR035910	RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily	IPR036300	Mir domain superfamily
Homologous_superfamily	IPR043136	B30.2/SPRY domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9Q3E5	InterPro	2924
UniProtKB:A0A8M3B6F3	InterPro	5063
UniProtKB:A0A8M9Q046	InterPro	2930
UniProtKB:A0A8M9PAE5	InterPro	2932
UniProtKB:A0A8M9PSX0	InterPro	2920
UniProtKB:A0A8M9PLS9	InterPro	2926
UniProtKB:A0A8M9QL69	InterPro	5069
UniProtKB:A0AB32TLC8	InterPro	2935
UniProtKB:A0AB32U3K9	InterPro	5073
UniProtKB:A0AC58GMW3	InterPro	5068
UniProtKB:A0AC58GMX2	InterPro	5067
UniProtKB:A0AC58GMX4	InterPro	5067
UniProtKB:A0AC58GMX6	InterPro	5062
UniProtKB:A0AC58GMX8	InterPro	5062
UniProtKB:A0AC58GMY3	InterPro	5061
UniProtKB:A0AC58GMZ8	InterPro	5056