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    RYR3 ryanodine receptor 3 [ Homo sapiens (human) ]

    Gene ID: 6263, updated on 17-Jun-2019

    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
    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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (33310773..33866121)
    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 Apr 4 07:08:55 2018

    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_001036.5NP_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, ENST00000634891.1
      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_001243996.3NP_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, AC010809, AC011938, AC087638, AJ001515, BQ003017
      Consensus CDS
      CCDS58351.1
      UniProtKB/Swiss-Prot
      Q15413
      Related
      ENSP00000399610.3, ENST00000415757.7
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      33310773..33866121
      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, ENST00000634418.1
      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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