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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
Gene
location (Human)

Chr. Chromosome
Chromosome
15 (human)[1]

Band 15q13.3-q14 Start 33,310,945 bp[1]

End 33,866,121 bp[1]

Gene
Gene
location (Mouse)

Chr. Chromosome
Chromosome
2 (mouse)[2]

Band 22 E3-E4 Start 112,631,355 bp[2]

End 113,217,096 bp[2]

Gene
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

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

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 2: 112.63 – 113.22 Mb

PubMed
PubMed
search [3] [4]

Wikidata

View/Edit Human View/Edit Mouse

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

Contents

1 See also 2 References 3 Further reading 4 External links

See also[edit]

Ryanodine
Ryanodine
receptor

References[edit]

^ a b c GRCh38: Ensembl
Ensembl
release 89: ENSG00000198838 - 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. doi:10.1006/geno.1993.1446. PMID 8276408.  ^ 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. 

Further reading[edit]

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.  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
RYR1
gene". Neuromuscul. Disord. 13 (2): 151–7. doi:10.1016/S0960-8966(02)00218-3. PMID 12565913.  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. 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.  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.  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
RYR3
gene". FEBS Lett. 423 (3): 367–70. doi:10.1016/S0014-5793(98)00124-0. PMID 9515741.  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. 

External links[edit]

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

v t e

Membrane transport protein: ion channels (TC 1A)

Ca2+: Calcium channel

Ligand-gated

Inositol trisphosphate receptor

1 2 3

Ryanodine
Ryanodine
receptor

1 2 3

Voltage-gated

L-type/Cavα

1.1 1.2 1.3 1.4

N-type/Cavα2.2 P-type/Cavα

2.1

Q-type/Cavα2.1 R-type/Cavα2.3 T-type/Cavα

3.1 3.2 3.3

α2δ-subunits

1 2

β-subunits

β1 β2 β3 β4

γ-subunits

γ1 γ2 γ3 γ4

Cation channels of sperm

1 2 3 4

Two-pore channel

1 2

Na+: Sodium channel

Constitutively active

Epithelial sodium channel

α β γ δ

Proton-gated

Amiloride-sensitive cation channel

1 2 3 4

Voltage-gated

Navα

1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A

Navβ

1 2 3 4

K+: Potassium channel

Calcium-activated

BK channel

α1 β1 β2 β3 β4

SK channel

SK1 SK2 SK3

IK channel

IK1

KCa

1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1

Inward-rectifier

KATP Kir

1.1 2.1 2.2 2.3 2.4 2.6

GIRK/Kir

3.1 3.2 3.3 3.4

Kir

4.1 4.2 5.1 6.1 6.2 7.1

Tandem pore domain

K2P

1 2 3 4 5 6 7 9 10 12 13 15 16 17 18

Voltage-gated

Kvα1-6

1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8

2.1 2.2

3.1 3.2 3.3 3.4

4.1 4.2 4.3

5.1

6.1 6.2 6.3 6.4

Kvα7-12

7.1 7.2 7.3 7.4 7.5

8.1 8.2

9.1 9.2 9.3

10.1 10.2

11.1/hERG 11.2 11.3

12.1 12.2 12.3

Kvβ

1 2 3

KCNIP

1 2 3 4

minK/ISK minK/ISK-like MiRP

1 2 3

Shaker gene

Miscellaneous

Cl−: Chloride
Chloride
channel

Calcium-activated chloride channels

Anoctamin

ANO1

Bestrophin

1 2

Chloride
Chloride
Channel Accessory

1 2 3 4

CFTR CLCN

1 2 3 4 5 6 7 KA KB

CLIC

1 2 3 4 5 6 L1

CLNS

1A 1B

H+: Proton channel

HVCN1

M+: CNG cation channel

α

1 2 3 4

β

1 2 3

HCN

FC 1 2 3 4

M+: TRP cation channel

TRPA (1) TRPC

1 2 3 4 4AP 5 6 7

TRPM

1 2 3 4 5 6 7 8

TRPML

1 2 3

TRPN TRPP

1 2

TRPV

1 2 3 4 5 6

H2O (+ solutes): Porin

Aquaporin

0 1 2 3 4 5 6 7 8 9

Voltage-dependent anion channel

1 2 3

General bacterial porin family

Cytoplasm: Gap junction

Connexin

A

GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10

B

GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7

C

GJC1 GJC2 GJC3

D

GJD2 GJD3 GJD4

Innexin

By gating mechanism

Ion channel
Ion channel
class

Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

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