Gene

ryr1b

ID

ZDB-GENE-070705-417

Name

ryanodine receptor 1b (skeletal)

Symbol

ryr1b Nomenclature History

Previous Names

ryrab (1)
im:7137738
relatively relaxed (1)
ryanodine receptor 1b (fast muscle) (1)
si:dkey-250i19.1

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Enables ryanodine-sensitive calcium-release channel activity. Involved in skeletal muscle fiber development and smoothened signaling pathway. Acts upstream of or within cellular response to oxidative stress; larval locomotory behavior; and twitch skeletal muscle contraction. Predicted to be located in membrane and sarcoplasmic reticulum. Predicted to be part of calcium channel complex. Predicted to be active in Z disc; endoplasmic reticulum; and sarcolemma. Is expressed in adaxial cell; heart; skeletal muscle cell; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in congestive heart failure (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

15 figures from 8 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7137738 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 16 figures from 7 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ryr1b 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 ryr1b 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:A0A8M6YTI2	InterPro	5109
UniProtKB:A6P4B8	InterPro	5076
UniProtKB:A0A8M6YVZ9	InterPro	5089
UniProtKB:A0A8M6YU63	InterPro	5098
UniProtKB:A0A8M9PM90	InterPro	5097
UniProtKB:A0A8M9PA63	InterPro	5103
UniProtKB:A0A8M9PFJ3	InterPro	5103
UniProtKB:A0A8M6Z1Y4	InterPro	5104
UniProtKB:A0A8M6Z1Y9	InterPro	5071
UniProtKB:A0A8M9PQC8	InterPro	5102
UniProtKB:A0A8M6Z2L8	InterPro	5072
UniProtKB:A0A8M6YTI9	InterPro	5076

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	ryr1b-201 (1) Ensembl	Ensembl		15,237 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations