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RYR3 ryanodine receptor 3 [ Homo sapiens (human) ]

Gene ID: 6263, updated on 17-Sep-2024

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; AllianceGenome:HGNC:10485
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; CMYO20; CMYP20
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
NEW
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Try the new Transcript table

Genomic context

See RYR3 in Genome Data Viewer
Location:
15q13.3-q14
Exon count:
107
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (33310967..33866102)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (31107439..31663747)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (33603168..34158303)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33530426-33530595 Neighboring gene transmembrane and coiled-coil domains 5B (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603389-33603900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:33603901-33604410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6271 Neighboring gene NANOG hESC enhancer GRCh37_chr15:33620309-33620820 Neighboring gene RYR3 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:33837506-33838705 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:33851407-33852197 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:33904937-33905438 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:33924098-33924317 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:34012814-34014013 Neighboring gene NANOG hESC enhancer GRCh37_chr15:34030252-34030792 Neighboring gene complement C1q binding protein pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34050593-34051255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34145183-34146382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:34150522-34151721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:34208100-34208650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6272 Neighboring gene apoptosis and caspase activation inhibitor Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34277417-34277940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:34280047-34280546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34314668-34315168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:34315169-34315669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6276 Neighboring gene cholinergic receptor muscarinic 5 Neighboring gene MPRA-validated peak2290 silencer Neighboring gene ribosomal protein L32 pseudogene 2 Neighboring gene ER membrane protein complex subunit 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital myopathy 20
MedGen: C5830393 OMIM: 620310 GeneReviews: Not available
not available

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium-induced calcium release activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables intracellularly gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ryanodine-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to ATP ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to caffeine ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to magnesium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in release of sequestered calcium ion into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in striated muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sarcoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
is_active_in smooth endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 

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)

NEW Try the new Transcript table

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
    5185..560320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001036.6NP_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)
    AC010809, AC011938, AC055874, AC067793, AC087638
    Consensus CDS
    CCDS45210.1
    UniProtKB/Swiss-Prot
    O15175, Q15412, Q15413
    UniProtKB/TrEMBL
    A0A0X1KG73
    Related
    ENSP00000489262.1, ENST00000634891.2
    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_001243996.4NP_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
    Consensus CDS
    CCDS58351.1
    UniProtKB/TrEMBL
    A0A0X1KG73
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    33310967..33866102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432931.1XP_047288887.1  ryanodine receptor 3 isoform X10

    UniProtKB/TrEMBL
    A0A0X1KG73
  2. XM_017022468.2XP_016877957.1  ryanodine receptor 3 isoform X1

    UniProtKB/TrEMBL
    A0A0X1KG73
  3. XM_017022475.2XP_016877964.1  ryanodine receptor 3 isoform X11

    UniProtKB/TrEMBL
    A0A0X1KG73
  4. XM_017022473.2XP_016877962.1  ryanodine receptor 3 isoform X7

    UniProtKB/TrEMBL
    A0A0X1KG73
  5. XM_047432932.1XP_047288888.1  ryanodine receptor 3 isoform X12

    UniProtKB/TrEMBL
    A0A0X1KG73
  6. XM_017022469.2XP_016877958.1  ryanodine receptor 3 isoform X2

    UniProtKB/TrEMBL
    A0A0X1KG73
  7. XM_011521880.3XP_011520182.1  ryanodine receptor 3 isoform X8

    UniProtKB/TrEMBL
    A0A0U1RRH1, A0A0X1KG73
    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
  8. XM_017022472.2XP_016877961.1  ryanodine receptor 3 isoform X5

    UniProtKB/TrEMBL
    A0A0X1KG73
  9. XM_017022471.2XP_016877960.1  ryanodine receptor 3 isoform X4

    UniProtKB/TrEMBL
    A0A0X1KG73
  10. XM_024450015.2XP_024305783.1  ryanodine receptor 3 isoform X6

    UniProtKB/TrEMBL
    A0A0X1KG73
    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
  11. XM_024450016.2XP_024305784.1  ryanodine receptor 3 isoform X16

    UniProtKB/TrEMBL
    A0A0X1KG73
    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
  12. XM_017022476.2XP_016877965.1  ryanodine receptor 3 isoform X13

    UniProtKB/TrEMBL
    A0A0X1KG73
  13. XM_047432933.1XP_047288889.1  ryanodine receptor 3 isoform X14

    UniProtKB/TrEMBL
    A0A0X1KG73
  14. XM_017022477.2XP_016877966.1  ryanodine receptor 3 isoform X15

  15. XM_017022474.2XP_016877963.1  ryanodine receptor 3 isoform X9

    UniProtKB/TrEMBL
    A0A0X1KG73
  16. XM_017022470.3XP_016877959.1  ryanodine receptor 3 isoform X3

    UniProtKB/TrEMBL
    A0A0X1KG73

RNA

  1. XR_001751370.2 RNA Sequence

  2. XR_001751371.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    31107439..31663747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378594.1XP_054234569.1  ryanodine receptor 3 isoform X10

    UniProtKB/TrEMBL
    A0A0X1KG73
  2. XM_054378586.1XP_054234561.1  ryanodine receptor 3 isoform X1

    UniProtKB/TrEMBL
    A0A0X1KG73
  3. XM_054378595.1XP_054234570.1  ryanodine receptor 3 isoform X11

    UniProtKB/TrEMBL
    A0A0X1KG73
  4. XM_054378592.1XP_054234567.1  ryanodine receptor 3 isoform X7

    UniProtKB/TrEMBL
    A0A0X1KG73
  5. XM_054378596.1XP_054234571.1  ryanodine receptor 3 isoform X12

    UniProtKB/TrEMBL
    A0A0X1KG73
  6. XM_054378587.1XP_054234562.1  ryanodine receptor 3 isoform X2

    UniProtKB/TrEMBL
    A0A0X1KG73
  7. XM_054378590.1XP_054234565.1  ryanodine receptor 3 isoform X5

    UniProtKB/TrEMBL
    A0A0X1KG73
  8. XM_054378588.1XP_054234563.1  ryanodine receptor 3 isoform X4

    UniProtKB/TrEMBL
    A0A0X1KG73
  9. XM_054378591.1XP_054234566.1  ryanodine receptor 3 isoform X6

    UniProtKB/TrEMBL
    A0A0X1KG73
  10. XM_054378600.1XP_054234575.1  ryanodine receptor 3 isoform X16

    UniProtKB/TrEMBL
    A0A0X1KG73
  11. XM_054378597.1XP_054234572.1  ryanodine receptor 3 isoform X13

    UniProtKB/TrEMBL
    A0A0X1KG73
  12. XM_054378598.1XP_054234573.1  ryanodine receptor 3 isoform X14

    UniProtKB/TrEMBL
    A0A0X1KG73
  13. XM_054378599.1XP_054234574.1  ryanodine receptor 3 isoform X15

  14. XM_054378593.1XP_054234568.1  ryanodine receptor 3 isoform X9

    UniProtKB/TrEMBL
    A0A0X1KG73
  15. XM_054378589.1XP_054234564.1  ryanodine receptor 3 isoform X3

    UniProtKB/TrEMBL
    A0A0X1KG73

RNA

  1. XR_008489001.1 RNA Sequence

  2. XR_008489002.1 RNA Sequence