From Wikipedia, the free encyclopedia
Transport protein and coding gene in humans
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
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000198838 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000057378 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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 .
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