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RYR3 ryanodine receptor 3 [ Homo sapiens (human) ]

Gene ID: 6263, updated on 2-Oct-2018

Summary

Official Symbol
RYR3provided by HGNC
Official Full Name
ryanodine receptor 3provided by HGNC
Primary source
HGNC:HGNC:10485
See related
Ensembl:ENSG00000198838 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]
Expression
Broad expression in brain (RPKM 1.5), endometrium (RPKM 1.4) and 19 other tissues See more
Orthologs

Genomic context

See RYR3 in Genome Data Viewer
Location:
15q13.3-q14
Exon count:
107
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (33310773..33866103)
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 C1q binding protein pseudogene 3 Neighboring gene apoptosis and caspase activation inhibitor Neighboring gene cholinergic receptor muscarinic 5 Neighboring gene uncharacterized LOC107984748

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

  • 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...
  • Apelin signaling pathway, organism-specific biosystem (from KEGG)
    Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
  • 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...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystem (from WikiPathways)
    Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystemThis pathway is based on Figure 7 of "Cell-Type Specific CCK2 Receptor Signaling Underlies the Cholecystokinin-Mediated Selective Excitation of Hippocampal Parvalbumin-Positive Fast-Spiking Basket Ce...
  • 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...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • MFAP5-mediated ovarian cancer cell motility and invasiveness, organism-specific biosystem (from WikiPathways)
    MFAP5-mediated ovarian cancer cell motility and invasiveness, organism-specific biosystemA graphical summary of the molecular signalling events involved in MFAP5-mediated ovarian cancer cell motility and invasiveness.
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-induced calcium release activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
smooth endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ryanodine receptor 3
Names
brain ryanodine receptor-calcium release channel
brain-type ryanodine receptor
type 3 ryanodine receptor

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_047076.1 RefSeqGene

    Range
    5180..560321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for 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
    ENSP00000489262.1, OTTHUMP00000247944, ENST00000634891.1, 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)
    pfam00520
    Location:46214781
    Ion_trans; Ion transport protein
    pfam01365
    Location:442621
    RYDR_ITPR; RIH domain
    pfam02026
    Location:849937
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42344504
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37313844
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:39353983
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:13241462
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:12207
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  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
    ENSP00000399610.3, OTTHUMP00000248166, ENST00000415757.7, 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)
    pfam00520
    Location:46164776
    Ion_trans; Ion transport protein
    pfam01365
    Location:442621
    RYDR_ITPR; RIH domain
    pfam02026
    Location:849937
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42294499
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37263839
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:39303978
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:13241462
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:12207
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    33310773..33866103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022477.1XP_016877966.1  ryanodine receptor 3 isoform X12

  2. XM_017022468.1XP_016877957.1  ryanodine receptor 3 isoform X1

  3. XM_017022475.1XP_016877964.1  ryanodine receptor 3 isoform X10

  4. XM_017022473.1XP_016877962.1  ryanodine receptor 3 isoform X7

  5. XM_017022469.1XP_016877958.1  ryanodine receptor 3 isoform X2

  6. XM_011521880.2XP_011520182.1  ryanodine receptor 3 isoform X9

    UniProtKB/TrEMBL
    A0A0U1RRH1
    Related
    ENSP00000489529.1, OTTHUMP00000281386, ENST00000634418.1, OTTHUMT00000488325
    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)
    pfam00520
    Location:46104770
    Ion_trans; Ion transport protein
    pfam01365
    Location:442621
    RYDR_ITPR; RIH domain
    pfam02026
    Location:849937
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42234493
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37203833
    RIH_assoc; RyR and IP3R Homology associated
    pfam13833
    Location:39243972
    EF-hand_8; EF-hand domain pair
    cd12879
    Location:13241462
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    cl19745
    Location:12207
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  7. XM_017022472.1XP_016877961.1  ryanodine receptor 3 isoform X5

  8. XM_017022471.1XP_016877960.1  ryanodine receptor 3 isoform X4

  9. XM_024450015.1XP_024305783.1  ryanodine receptor 3 isoform X6

    Conserved Domains (11) summary
    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:13181461
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:46154775
    Ion_trans; Ion transport protein
    pfam01365
    Location:440621
    RYDR_ITPR; RIH domain
    pfam02026
    Location:849937
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42284498
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37253838
    RIH_assoc; RyR and IP3R Homology associated
    pfam13499
    Location:39223977
    EF-hand_7; EF-hand domain pair
    cl19745
    Location:12207
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  10. XM_024450016.1XP_024305784.1  ryanodine receptor 3 isoform X13

    Conserved Domains (11) summary
    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:13181461
    SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    pfam00520
    Location:46144774
    Ion_trans; Ion transport protein
    pfam01365
    Location:440621
    RYDR_ITPR; RIH domain
    pfam02026
    Location:849937
    RyR; RyR domain
    pfam02815
    Location:216397
    MIR; MIR domain
    pfam06459
    Location:42274497
    RR_TM4-6; Ryanodine Receptor TM 4-6
    pfam08454
    Location:37243837
    RIH_assoc; RyR and IP3R Homology associated
    pfam13499
    Location:39213976
    EF-hand_7; EF-hand domain pair
    cl19745
    Location:12207
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  11. XM_017022476.1XP_016877965.1  ryanodine receptor 3 isoform X11

  12. XM_017022474.1XP_016877963.1  ryanodine receptor 3 isoform X8

  13. XM_017022470.2XP_016877959.1  ryanodine receptor 3 isoform X3

RNA

  1. XR_001751369.1 RNA Sequence

  2. XR_001751370.1 RNA Sequence

  3. XR_001751371.2 RNA Sequence

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