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The Info List - RYR3


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4ERV

IDENTIFIERS

ALIASES RYR3, RYR-3, ryanodine receptor 3

EXTERNAL IDS MGI: 99684 HomoloGene: 68151 GeneCards: RYR3

GENE LOCATION (HUMAN)

CHR. Chromosome
Chromosome
15 (human)

BAND 15q13.3-q14 START 33,310,945 bp

END 33,866,121 bp

GENE LOCATION (MOUSE)

CHR. Chromosome
Chromosome
2 (mouse)

BAND n/a START 112,631,355 bp

END 113,217,096 bp

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

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 • transport

Sources:Amigo / QuickGO

ORTHOLOGS

SPECIES HUMAN MOUSE

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 NP_808320

LOCATION (UCSC) Chr 15: 33.31 – 33.87 Mb Chr 15: 112.63 – 113.22 Mb

PUBMED SEARCH

Wikidata
Wikidata

View/Edit Human View/Edit Mouse

RYANODINE RECEPTOR 3 is a protein that in humans is encoded by the RYR3
RYR3
gene . The protein encoded by this gene is both a calcium channel and a receptor for the plant alkaloid ryanodine . RYR3
RYR3
and RYR1
RYR1
control the resting calcium ion concentration in skeletal muscle .

CONTENTS

* 1 See also * 2 References * 3 Further reading * 4 External links

SEE ALSO

* Ryanodine
Ryanodine
receptor

REFERENCES

* ^ A B C GRCh38: Ensembl
Ensembl
release 89: ENSG00000198838 - Ensembl
Ensembl
, May 2017 * ^ A B C GRCm38: Ensembl
Ensembl
release 89: ENSMUSG00000057378 - Ensembl , May 2017 * ^ "Human PubMed
PubMed
Reference:". * ^ "Mouse PubMed
PubMed
Reference:". * ^ 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. PMID 8276408 . doi :10.1006/geno.1993.1446 . * ^ 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. PMID 15548569 . doi :10.1152/ajpcell.00407.2004 .

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. PMC 1170299  . PMID 9384575 . doi :10.1093/emboj/16.23.6956 . * 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. PMC 1221670  . PMID 11171121 . doi :10.1042/bj3540413 . * 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. PMID 12354756 . doi :10.1074/jbc.M209061200 . * 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. PMID 9395096 . doi :10.1016/S0014-5793(97)01275-1 . * 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. PMID 12213830 . doi :10.1074/jbc.M208210200 . * 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
RYR1
gene". Neuromuscul. Disord. 13 (2): 151–7. PMID 12565913 . doi :10.1016/S0960-8966(02)00218-3 . * 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. PMID 19096130 . doi :10.1155/2008/426764 . * 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. PMID 18588595 . doi :10.1111/j.1440-1819.2008.01802.x . * 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. PMID 14550562 . doi :10.1016/S0014-5793(03)00999-2 . * 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. PMID 12471029 . doi :10.1074/jbc.M210410200 . * 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. PMC 2704421  . PMID 19581603 . doi :10.1503/cmaj.081785 . * 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. PMC 1171597  . PMID 10508160 . doi :10.1093/emboj/18.19.5264 . * 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. PMID 9607712 . doi :10.1016/S0306-4522(97)00612-X . * 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. PMID 14702039 . doi :10.1038/ng1285 . * 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. PMID 14970260 . doi :10.1242/jcs.00948 . * 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. PMID 11598113 . doi :10.1074/jbc.M106573200 . * 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
RYR3
gene". FEBS Lett. 423 (3): 367–70. PMID 9515741 . doi :10.1016/S0014-5793(98)00124-0 . * 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. PMID 7556644 . doi :10.1016/0014-5793(95)00924-X .

EXTERNAL LINKS

* RYR3
RYR3
protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

* v

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