Display Settings:

Format

Send to:

Choose Destination

RYR3 ryanodine receptor 3 [ Homo sapiens (human) ]

Gene ID: 6263, updated on 7-Dec-2014
Official Symbol
RYR3provided by HGNC
Official Full Name
ryanodine receptor 3provided by HGNC
Primary source
HGNC:HGNC:10485
See related
Ensembl:ENSG00000198838; HPRD:01620; MIM:180903; Vega:OTTHUMG00000172253
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RYR-3
Summary
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
See RYR3 in Epigenomics, MapViewer
Location:
15q14-q15
Exon count:
104
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (33310976..33866102)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33603177..34158304)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928134 Neighboring gene transmembrane and coiled-coil domains 5B, pseudogene Neighboring gene complement component 1, q subcomponent binding protein pseudogene Neighboring gene apoptosis, caspase activation inhibitor Neighboring gene cholinergic receptor, muscarinic 5 Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene ER membrane protein complex subunit 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM PubMed
tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed
tat RYR3 gene regulated by HIV-1 Tat is associated with common and internal carotid intima-media thicknesses (cIMT) in HARRT-treated HIV-infected persons PubMed

Go to the HIV-1, Human Interaction Database

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Salivary secretion, organism-specific biosystem (from KEGG)
    Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
  • Salivary secretion, conserved biosystem (from KEGG)
    Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-induced calcium release activity IEA
Inferred from Electronic Annotation
more info
 
calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to ATP ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to caffeine ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to magnesium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
negative regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
striated muscle contraction IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
junctional membrane complex IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
Preferred Names
ryanodine receptor 3
Names
ryanodine receptor 3
type 3 ryanodine receptor
brain-type ryanodine receptor
brain ryanodine receptor-calcium release channel

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001036.4NP_001027.3  ryanodine receptor 3 isoform 1

    See proteins identical to NP_001027.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB001025, AC010809, AC011938, AC087638, AJ001515, BQ003017
    Consensus CDS
    CCDS45210.1
    UniProtKB/Swiss-Prot
    Q15413
    Related
    ENSP00000373884, OTTHUMP00000247944, ENST00000389232, OTTHUMT00000417514
    Conserved Domains (12) summary
    smart00472
    Location:275368
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:641792
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:13241462
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:46154769
    Ion_trans; Ion transport protein
    pfam01365
    Location:438642
    RYDR_ITPR; RIH domain
    pfam02026
    Location:25972691
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42344504
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37223844
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:12209
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    pfam13833
    Location:39353983
    EF-hand_8; EF-hand domain pair
  2. NM_001243996.2NP_001230925.1  ryanodine receptor 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB001025, AC011938, AC087638, AJ001515, BQ003017
    Consensus CDS
    CCDS58351.1
    UniProtKB/Swiss-Prot
    Q15413
    Related
    ENSP00000399610, OTTHUMP00000248166, ENST00000415757, OTTHUMT00000417950
    Conserved Domains (12) summary
    smart00472
    Location:275368
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    cd12877
    Location:641792
    SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
    cd12878
    Location:10721204
    SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
    cd12879
    Location:13241462
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:46104764
    Ion_trans; Ion transport protein
    pfam01365
    Location:438642
    RYDR_ITPR; RIH domain
    pfam02026
    Location:25972691
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42294499
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37173839
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:12209
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    pfam13833
    Location:39303978
    EF-hand_8; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    33310976..33866102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    33721203..34276301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    10464756..11021191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)