Ryanodine receptor 3

Transport protein and coding gene in humans
RYR3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4ERV

Identifiers
AliasesRYR3, RYR-3, ryanodine receptor 3
External IDsOMIM: 180903; MGI: 99684; HomoloGene: 68151; GeneCards: RYR3; OMA:RYR3 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for RYR3
Genomic location for RYR3
Band15q13.3-q14Start33,310,962 bp[1]
End33,866,121 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for RYR3
Genomic location for RYR3
Band2|2 E3- E4Start112,461,700 bp[2]
End113,047,441 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • thoracic diaphragm

  • sural nerve

  • right hemisphere of cerebellum

  • caudate nucleus

  • putamen

  • right uterine tube

  • nucleus accumbens

  • right frontal lobe

  • body of uterus

  • gastrocnemius muscle
Top expressed in
  • olfactory tubercle

  • lateral septal nucleus

  • medial dorsal nucleus

  • subiculum

  • mammillary body

  • nucleus accumbens

  • motor neuron

  • lateral geniculate nucleus

  • globus pallidus

  • substantia nigra
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • ryanodine-sensitive calcium-release channel activity
  • calcium channel activity
  • calcium-release channel activity
  • calmodulin binding
  • ion channel activity
  • calcium-induced calcium release activity
  • calcium ion binding
Cellular component
  • organelle membrane
  • integral component of membrane
  • membrane
  • intracellular membrane-bounded organelle
  • sarcoplasmic reticulum
  • sarcoplasmic reticulum membrane
  • endoplasmic reticulum
  • perinuclear region of cytoplasm
  • plasma membrane
  • smooth endoplasmic reticulum
  • Z disc
  • cytoplasmic vesicle membrane
  • calcium channel complex
  • sarcolemma
Biological process
  • cellular response to calcium ion
  • cellular response to magnesium ion
  • regulation of cardiac conduction
  • cellular calcium ion homeostasis
  • ion transport
  • ion transmembrane transport
  • calcium ion transmembrane transport
  • cellular response to caffeine
  • cellular response to ATP
  • protein homotetramerization
  • calcium ion transport
  • negative regulation of cytosolic calcium ion concentration
  • transmembrane transport
  • release of sequestered calcium ion into cytosol
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6263

20192

Ensembl

ENSG00000198838

ENSMUSG00000057378

UniProt

Q15413

A2AGL3

RefSeq (mRNA)

NM_001036
NM_001243996

NM_177652
NM_001319156

RefSeq (protein)

NP_001027
NP_001230925

NP_001306085

Location (UCSC)Chr 15: 33.31 – 33.87 MbChr 2: 112.46 – 113.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ryanodine receptor 3 is one of a class of ryanodine receptors and a protein that in humans is encoded by the RYR3 gene.[5] The protein encoded by this gene is both a calcium channel and a receptor for the plant alkaloid ryanodine. RYR3 and RYR1 control the resting calcium ion concentration in skeletal muscle.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198838 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057378 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Sorrentino V, Giannini G, Malzac P, Mattei MG (Feb 1994). "Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization". Genomics. 18 (1): 163–5. doi:10.1006/geno.1993.1446. PMID 8276408.
  6. ^ Perez CF, López JR, Allen PD (March 2005). "Expression levels of RyR1 and RyR3 control resting free Ca2+ in skeletal muscle". Am. J. Physiol., Cell Physiol. 288 (3): C640–9. doi:10.1152/ajpcell.00407.2004. PMID 15548569. S2CID 30888541.

Further reading

  • Bertocchini F, Ovitt CE, Conti A, et al. (1997). "Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles". EMBO J. 16 (23): 6956–63. doi:10.1093/emboj/16.23.6956. PMC 1170299. PMID 9384575.
  • Bultynck G, De Smet P, Rossi D, et al. (2001). "Characterization and mapping of the 12 kDa FK506-binding protein (FKBP12)-binding site on different isoforms of the ryanodine receptor and of the inositol 1,4,5-trisphosphate receptor". Biochem. J. 354 (Pt 2): 413–22. doi:10.1042/bj3540413. PMC 1221670. PMID 11171121.
  • Schwarzmann N, Kunerth S, Weber K, et al. (2002). "Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex". J. Biol. Chem. 277 (52): 50636–42. doi:10.1074/jbc.M209061200. PMID 12354756.
  • Nakashima Y, Nishimura S, Maeda A, et al. (1997). "Molecular cloning and characterization of a human brain ryanodine receptor". FEBS Lett. 417 (1): 157–62. doi:10.1016/S0014-5793(97)01275-1. PMID 9395096. S2CID 21591492.
  • Xiao B, Masumiya H, Jiang D, et al. (2002). "Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors)". J. Biol. Chem. 277 (44): 41778–85. doi:10.1074/jbc.M208210200. PMID 12213830.
  • Davis MR, Haan E, Jungbluth H, et al. (2003). "Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene". Neuromuscul. Disord. 13 (2): 151–7. doi:10.1016/S0960-8966(02)00218-3. PMID 12565913. S2CID 30235519.
  • Kitahara K, Kawa S, Katsuyama Y, et al. (2008). "Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients". Dis. Markers. 25 (3): 175–80. doi:10.1155/2008/426764. PMC 3827802. PMID 19096130.
  • Tochigi M, Kato C, Ohashi J, et al. (2008). "No association between the ryanodine receptor 3 gene and autism in a Japanese population". Psychiatry Clin. Neurosci. 62 (3): 341–4. doi:10.1111/j.1440-1819.2008.01802.x. PMID 18588595.
  • Masumiya H, Yamamoto H, Hemberger M, et al. (2003). "The mouse sino-atrial node expresses both the type 2 and type 3 Ca(2+) release channels/ryanodine receptors". FEBS Lett. 553 (1–2): 141–4. doi:10.1016/S0014-5793(03)00999-2. PMID 14550562. S2CID 20575812.
  • Jiang D, Xiao B, Li X, Chen SR (2003). "Smooth muscle tissues express a major dominant negative splice variant of the type 3 Ca2+ release channel (ryanodine receptor)". J. Biol. Chem. 278 (7): 4763–9. doi:10.1074/jbc.M210410200. PMID 12471029.
  • Mohaupt MG, Karas RH, Babiychuk EB, et al. (2009). "Association between statin-associated myopathy and skeletal muscle damage". Canadian Medical Association Journal. 181 (1–2): E11–8. doi:10.1503/cmaj.081785. PMC 2704421. PMID 19581603.
  • Balschun D, Wolfer DP, Bertocchini F, et al. (1999). "Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning". EMBO J. 18 (19): 5264–73. doi:10.1093/emboj/18.19.5264. PMC 1171597. PMID 10508160.
  • Martin C, Chapman KE, Seckl JR, Ashley RH (1998). "Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum". Neuroscience. 85 (1): 205–16. doi:10.1016/S0306-4522(97)00612-X. PMID 9607712. S2CID 25634042.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Van Acker K, Bultynck G, Rossi D, et al. (2004). "The 12 kDa FK506-binding protein, FKBP12, modulates the Ca(2+)-flux properties of the type-3 ryanodine receptor". J. Cell Sci. 117 (Pt 7): 1129–37. doi:10.1242/jcs.00948. PMID 14970260.
  • Bultynck G, Rossi D, Callewaert G, et al. (2001). "The conserved sites for the FK506-binding proteins in ryanodine receptors and inositol 1,4,5-trisphosphate receptors are structurally and functionally different". J. Biol. Chem. 276 (50): 47715–24. doi:10.1074/jbc.M106573200. PMID 11598113.
  • Leeb T, Brenig B (1998). "cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene". FEBS Lett. 423 (3): 367–70. doi:10.1016/S0014-5793(98)00124-0. PMID 9515741. S2CID 19974365.
  • Lynn S, Morgan JM, Lamb HK, et al. (1995). "Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle". FEBS Lett. 372 (1): 6–12. doi:10.1016/0014-5793(95)00924-X. PMID 7556644. S2CID 41319934.

External links

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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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