CaMPDB :: Substrate

XSB1614 : skeletal muscle ryanodine receptor isoform 1 [Homo sapiens]

This entry is computationally expanded from SB0015

* Basic Information

Organism	Homo sapiens (human)
Protein Names	Ryanodine receptor 1; RYR-1; RyR1; Skeletal muscle-type ryanodine receptor; Skeletal muscle calcium release channel; skeletal muscle ryanodine receptor isoform 1; sarcoplasmic reticulum calcium release channel; ryanodine receptor type1; type 1-like ryanodine receptor; central core disease of muscle; skeletal muscle ryanodine receptor
Gene Names	RYR1; RYDR; ryanodine receptor 1 (skeletal)
Gene Locus	19q13.1; chromosome 19
GO Function	Not available

Entrez Protein	Entrez Nucleotide	Entrez Gene	UniProt	OMIM	HGNC	HPRD	KEGG
NP_000531	NM_000540	6261	P21817	180901	10483	N/A	hsa:6261

* Information From OMIM

Description: The RYR1 gene encodes the skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule (MacLennan et al., 1989).

» More (5) « Hide Below

Description: See also RYR2 (OMIM:180902) and RYR3 (OMIM:180903), which encode the cardiac and brain ryanodine receptors, respectively.

Function: Eu et al. (2000) reported that ambient oxygen tension (pO2) dynamically controls the redox state of 6 to 8 out of 50 thiols in each RYR1 subunit and thereby tunes the response to NO. At physiologic pO2, nanomolar NO activates the channel by S-nitrosylating a single cysteine residue. Among sarcoplasmic reticulum proteins, S-nitrosylation is specific to RYR1, and its effect on the channel is calmodulin (see OMIM:114180) dependent. Neither activation nor S-nitrosylation of the channel occurs at ambient pO2. The demonstration that channel cysteine residues subserve coupled O2 sensor and NO regulatory functions, and that these operate through the prototypic allosteric effector calmodulin, may have general implications for the regulation of redox-related systems.

Function: Calcium-induced calcium release is a general mechanism that most cells use to amplify calcium signals. In heart cells, this mechanism is operated between voltage-gated L-type calcium channels (LCCs; see OMIM:114205) in the plasma membrane and calcium release channels, commonly known as ryanodine receptors, in the sarcoplasmic reticulum. The calcium influx through LCCs traverses a cleft of roughly 12 nm formed by the cell surface and the sarcoplasmic reticulum membrane, and activates adjacent ryanodine receptors to release calcium in the form of calcium sparks (Cheng et al., 1993). Wang et al. (2001) determined the kinetics, fidelity, and stoichiometry of coupling between LCCs and ryanodine receptors. They showed that the local calcium signal produced by a single opening of an LCC, named a 'calcium sparklet,' can trigger about 4 to 6 ryanodine receptors to generate a calcium spark. The coupling between LCCs and ryanodine receptors is stochastic, as judged by the exponential distribution of the coupling latency. The fraction of sparklets that successfully triggers a spark is less than unity and declines in a use-dependent manner.

Function: Ducreux et al. (2004) found that activation of RYR1 caused release of interleukin-6 (IL6; OMIM:147620) from cultured human myotubes. Maximal release was obtained 4 to 6 hours later, suggesting that IL6 was newly transcribed and synthesized.

Function: Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating transcriptional haploinsufficiency. Germline epimutations and genomic imprinting are typical examples. Genomic imprinting can be tissue-specific, with biallelic expression in some tissues and monoallelic expression in others or with polymorphic expression in the general population. During the RYR1 mutation analysis of a cohort of patients with recessive core myopathies, Zhou et al. (2006) discovered that 6 (55%) of 11 patients had monoallelic RYR1 transcription in skeletal muscle, despite being heterozygous at the genomic level. In families for which parental DNA was available, segregation studies showed that the nonexpressed allele was maternally inherited. Transcription analysis in patients' fibroblasts and lymphoblastoid cell lines indicated biallelic expression, which suggested tissue-specific silencing. Transcription analysis of normal human fetal tissues showed that RYR1 is monoallelically expressed in skeletal and smooth muscle, brain, and eye in 10% of cases. In contrast, 25 normal adult human skeletal muscle samples displayed only biallelic expression. Finally, the administration of the DNA methyltransferase inhibitor 5-aza-deoxycytidine to cultured patient skeletal muscle myoblasts reactivated the transcription of the silenced allele, which suggested hypermethylation as a mechanism for RYR1 silencing. The data indicated that RYR1 undergoes polymorphic, tissue-specific, and developmentally regulated allele silencing and that this unveils recessive mutations in patients with core myopathies. The data also suggested that imprinting is a likely mechanism for this phenomenon and that similar mechanisms could play a role in human phenotypic heterogeneity.

* Structure Information

1. Primary Information

Length: 5038 aa

Average Mass: 565.176 kDa

Monoisotopic Mass: 564.815 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain name	begin	end	score	e-value
Ins145_P3_rec 1.	8	210	360.1	4.1e-105
MIR 1.	211	390	265.5	1.2e-76
RYDR_ITPR 1.	439	643	328.4	1.4e-95
SPRY 1.	658	796	137.6	3.9e-38
RyR 1.	849	943	222.5	1.1e-63
RyR 2.	963	1057	211.0	3.1e-60
SPRY 2.	1084	1207	162.1	1.7e-45
CsbD 1.	1342	1381	-23.7	7.6
--- cleavage 1399 ---
SPRY 3.	1429	1569	144.3	3.8e-40
DUF2164 1.	1929	1975	-42.7	4.5
RYDR_ITPR 2.	2157	2365	308.3	1.6e-89
RyR 3.	2734	2828	217.2	4.2e-62
--- cleavage 2843 ---
RyR 4.	2854	2942	184.7	2.7e-52
Exonuc_VII_S 1.	3096	3125	-27.5	6.7
Transposase_12 1.	3326	3386	-56.9	4
DUF1081 1.	3505	3594	-32.0	3.7
Peptidase_C41 1.	3626	3779	-35.6	2.3
HTH_DeoR 1.	3812	3861	-17.5	5.4
RIH_assoc 1.	3870	4003	326.0	7.8e-95
CHCH 1.	4098	4137	-5.8	7.5
Hpt 1.	4231	4323	-10.0	7.5
RR_TM4-6 1.	4382	4671	427.1	2.7e-125
Ion_trans 1.	4762	4937	36.2	1.4e-07
zf-C2H2 1.	4957	4984	2.3	6.9

3. Sequence Information

Fasta Sequence: XSB1614.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Not Available.

* Cleavage Information

2 [sites]

Cleavage sites (±10aa)

[Site 1] TEKKKTRKIS²⁸⁴³-QSAQTYDPRE

Ser²⁸⁴³ Gln

P10	P9	P8	P7	P6	P5	P4	P3	P2	P1

Thr²⁸³⁴	Glu²⁸³⁵	Lys²⁸³⁶	Lys²⁸³⁷	Lys²⁸³⁸	Thr²⁸³⁹	Arg²⁸⁴⁰	Lys²⁸⁴¹	Ile²⁸⁴²	Ser²⁸⁴³

P1'	P2'	P3'	P4'	P5'	P6'	P7'	P8'	P9'	P10'
Gln²⁸⁴⁴	Ser²⁸⁴⁵	Ala²⁸⁴⁶	Gln²⁸⁴⁷	Thr²⁸⁴⁸	Tyr²⁸⁴⁹	Asp²⁸⁵⁰	Pro²⁸⁵¹	Arg²⁸⁵²	Glu²⁸⁵³

Sequence conservation (by blast) Sequence conservation (by blast)

Reference peptide (cleaved bond±30 residues)
KAMIAWEWTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQA

Summary

#	organism	max score	hits	top seq
1	Homo sapiens	83.20	11	skeletal muscle ryanodine receptor isoform 1
2	N/A	83.20	6	-
3	Oryctolagus cuniculus	80.50	2	RYR1_RABIT Ryanodine receptor 1 (Skeletal muscle-t
4	Mus musculus	80.10	4	ryanodine receptor
5	Rattus norvegicus	80.10	2	PREDICTED: similar to ryanodine receptor 1, skelet
6	Sus scrofa	78.60	4	ryanodine receptor
7	Bos taurus	66.60	2	PREDICTED: similar to Ryanodine receptor 1 (Skelet
8	Danio rerio	62.00	2	PREDICTED: similar to ryanodine receptor RyR1
9	Tetraodon nigroviridis	59.30	3	unnamed protein product
10	Macaca mulatta	57.80	1	PREDICTED: similar to ryanodine receptor 1 (skelet
11	Prot=RyR1 isform from fish	57.40	1	-
12	Rana catesbeiana	44.30	1	ryanodine receptor alpha isoform
13	Hemicentrotus pulcherrimus	38.90	1	ryanodine receptor
14	Pan troglodytes	36.60	1	PREDICTED: cardiac muscle ryanodine receptor
15	Canis familiaris	36.60	1	PREDICTED: similar to Ryanodine receptor 2 (Cardia
16	Monodelphis domestica	36.60	1	PREDICTED: similar to cardiac muscle ryanodine rec
17	Gallus gallus	35.00	1	PREDICTED: similar to cardiac muscle ryanodine rec

Top-ranked sequences

organism	matching
Homo sapiens	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|\| \|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 2814 KAMIAWEWTIEKAREGEEEKTEKKKTRKIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873
N/A	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|\| \|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 2814 KAMIAWEWTIEKAREGEEEKTEKKKTRKIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873
Oryctolagus cuniculus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|\| \|\|#\|+\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\| Sbjct 2814 KAMIAWEWTIEKAREGEEERTEKKKTRKIS#QTAQTYDPREGYNPQPPDLSGVTLSRELQA 2873
Mus musculus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|+ \|\|#\|+\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\| Sbjct 2815 KAMIAWEWTVEKAREGEEEKTEKKKTRKIS#QTAQTYDPREGYNPQPPDLSVVTLSRELQA 2874
Rattus norvegicus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|+ \|\|#\|+\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\| Sbjct 2815 KAMIAWEWTVEKAREGEEEKTEKKKTRKIS#QTAQTYDPREGYNPQPPDLSVVTLSRELQA 2874
Sus scrofa	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \|\|\|\|\|\|\|\|\|\| \|\|#\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\| Sbjct 2815 KAMIAWEWTIEKAREGEEEKTEKKKTRKIS#QSAQTYDAREGYNPQPPDLSGVTLSRELQA 2874
Bos taurus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVT 2866 \|\|\|\|\|\|\|\|\|\| \|\|#\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\| Sbjct 966 KAMIAWEWTIEKAREGEEEKTEKKKTRKIS#QSAQTYDAREGYNPQPPDLSGVT 1018
Danio rerio	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQ-TYDPREGYNPQPPDLSAVTLSRELQ 2872 \|\|\|\|\|\|\|\|\|+ \|\|#\|+\|\| \|\|\|\| \|\|+\|\|\| \|+\| +\|\|\|\|\|\|\| Sbjct 2852 KAMIAWEWTLDKARDGEDEKVEKKTARKIS#QTAQATYDPSHGYSPQPIDISGMTLSRELQ 2911 Query 2873 A 2873 + Sbjct 2912 S 2912
Tetraodon nigroviridis	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQ-TYDPREGYNPQPPDLSAVTLSRELQ 2872 \|\|\|+\|\|\|\|\|+ \|\|#\|+\|\| \|\|\|\| \|\|+\|\|\| \|+\| + \|\|\|\|\|\| Sbjct 2341 KAMLAWEWTLEKARDGEGEVEKKAATRKIS#QTAQATYDPSHGYSPQPIDISGMALSRELQ 2400 Query 2873 A 2873 + Sbjct 2401 S 2401
Macaca mulatta	Query 2845 SAQTYDPREGYNPQPPDLSAVTLSRELQ 2872 \| +\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 818 SEKTYDPREGYNPQPPDLSAVTLSRELQ 845
Prot=RyR1 isform from fish	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQ-TYDPREGYNPQPPDLSAVTLSRELQ 2872 \|\|\|+\|\|\|\| \| \|\|#\|+\|\| \|\|\|\| \|\|+\|\|\| \|+\| \| \|\|\|+\|\| Sbjct 2853 KAMLAWEWNIEKAREEEESEKKKATSRKIS#QTAQATYDPSHGYSPQPIDISHVALSRDLQ 2912 Query 2873 A 2873 + Sbjct 2913 S 2913
Rana catesbeiana	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXX-IS#QSAQ-TYDPR-EGYNPQPPDLSAVTLSRE 2870 \|\|\|\|\|\|\|\| + \|\|#\|+\|\| \|\|\|\| + ++\| \| \|\|+ +\|\|\|\|\| Sbjct 2800 KAMIAWEWLVEKAREGEEDRTEKKTKTRKIS#QTAQQTYDPMVQTFSPTPIDLTGLTLSRE 2859 Query 2871 LQA 2873 \|\|+ Sbjct 2860 LQS 2862
Hemicentrotus pulcherrimus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQ 2872 \|\|++\|\| \|++ # \| + \|\|\|\|+\| \|+\| +\|\|+\|\|+\| Sbjct 2985 KALLAWGWSVERSKASEQQSQAHRPRRLSK#ASLGAMESPHGYNPRPIDVSNITLTREMQ 3043
Pan troglodytes	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \| \|+\|\| \| \| # \| + \| \|\|+\|+ \|+\| \|\|\|\|\|+\| \| Sbjct 2826 KTMLAWGWRIERTREGDSMALYNRTRRISQ#TSQVSVDAAHGYSPRAIDMSNVTLSRDLHA 2885
Canis familiaris	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \| \|+\|\| \| \| # \| + \| \|\|+\|+ \|+\| \|\|\|\|\|+\| \| Sbjct 2774 KTMLAWGWRIERTREGDSMALYNRTRRISQ#TSQVSVDAAHGYSPRAIDMSNVTLSRDLHA 2833
Monodelphis domestica	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \| \|+\|\| \| \| # \| + \| \|\|+\|+ \|+\| \|\|\|\|\|+\| \| Sbjct 2850 KTMLAWGWRIERTREGDSMALYTRTRRISQ#TSQVSIDTAHGYSPRAIDMSNVTLSRDLHA 2909
Gallus gallus	Query 2814 KAMIAWEWTIXXXXXXXXXXXXXXXXXXIS#QSAQTYDPREGYNPQPPDLSAVTLSRELQA 2873 \| \|+\|\| \| \| # \| + \| \|\|+\|+ \|+\| \|\|\|\|\|++ \| Sbjct 614 KTMLAWGWRIERTREGDSMALYNRTRRISQ#TSQISVDAAHGYSPRAIDMSNVTLSRDVHA 673

[Site 2] FKAKKVAMMT¹³⁹⁹-QPPATPTLPR

Thr¹³⁹⁹ Gln

P10	P9	P8	P7	P6	P5	P4	P3	P2	P1

Phe¹³⁹⁰	Lys¹³⁹¹	Ala¹³⁹²	Lys¹³⁹³	Lys¹³⁹⁴	Val¹³⁹⁵	Ala¹³⁹⁶	Met¹³⁹⁷	Met¹³⁹⁸	Thr¹³⁹⁹

P1'	P2'	P3'	P4'	P5'	P6'	P7'	P8'	P9'	P10'
Gln¹⁴⁰⁰	Pro¹⁴⁰¹	Pro¹⁴⁰²	Ala¹⁴⁰³	Thr¹⁴⁰⁴	Pro¹⁴⁰⁵	Thr¹⁴⁰⁶	Leu¹⁴⁰⁷	Pro¹⁴⁰⁸	Arg¹⁴⁰⁹

Sequence conservation (by blast) Sequence conservation (by blast)

Reference peptide (cleaved bond±30 residues)
ARAENEKDATTEKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNT

Summary

#	organism	max score	hits	top seq
1	Homo sapiens	125.00	6	skeletal muscle ryanodine receptor isoform 1
2	N/A	125.00	4	-
3	Oryctolagus cuniculus	120.00	1	RYR1_RABIT Ryanodine receptor 1 (Skeletal muscle-t
4	Mus musculus	119.00	2	ryanodine receptor 1, skeletal muscle
5	Rattus norvegicus	119.00	2	PREDICTED: similar to ryanodine receptor 1, skelet
6	Sus scrofa	117.00	4	ryanodine receptor
7	Monodelphis domestica	110.00	1	PREDICTED: hypothetical protein
8	Tetraodon nigroviridis	83.60	2	unnamed protein product
9	Rana catesbeiana	79.00	1	ryanodine receptor alpha isoform
10	Danio rerio	78.60	2	PREDICTED: similar to ryanodine receptor RyR1
11	Prot=RyR1 isform from fish	68.60	1	-
12	Trypanosoma brucei	33.90	1	hypothetical protein, conserved
13	Chloroflexus aurantiacus J-10-fl	33.50	1	Extensin-like protein
14	Caenorhabditis briggsae	33.50	1	Hypothetical protein CBG05716
15	Verminephrobacter eiseniae EF01-2	32.70	1	outer membrane protein
16	Tetrahymena thermophila SB210	32.70	1	hypothetical protein TTHERM_00473160

Top-ranked sequences

organism	matching
Homo sapiens	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429
N/A	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429
Oryctolagus cuniculus	Query 1371 RAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|#\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 1372 RAENEKDATTEKNKKRGFLFKAKKAAMMT#QPPATPALPRLPHDVVPADNRDDPEIILNT 1430
Mus musculus	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|+\|\| \|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 1372 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPSTPALPRLPRDVVPADNRDDPEIILNT 1431
Rattus norvegicus	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|+\|\| \|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 1372 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPSTPALPRLPRDVVPADNRDDPEIILNT 1431
Sus scrofa	Query 1371 RAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|+\|\|\|\|\|+\|\|\|\|+\|\|\|\|\| Sbjct 1372 RAENEKDATTEKNKKRGFLFKAKKAAMMT#QPPATPTLPRLPHEVVPADDRDDPDIILNT 1430
Monodelphis domestica	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|\|\|+ \|\|\|+\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|#\| \|\|\|\| \|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Sbjct 1298 ARAENEKDSATEKSKKRGFLFKAKKAAMMT#QAPATPALPRLPRDVVPADNRDDPEIILNT 1357
Tetraodon nigroviridis	Query 1373 ENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\|\|+\|\|\|+\|\|+\|\|\|\|\|\|\|\| \|++ # \|\| \|\|+\|\|\| \|\|\|\| \|+\|\|\| +\|\|\|\|\| Sbjct 1329 ENEKDASTEKSKKKGFLFKAKKAALIN#PPPVVPTMPRLVEDVVP-DDRDDVDIILNT 1384
Rana catesbeiana	Query 1371 RAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 + \|\|\|\|\| \|\|\|\| \|\|\|\|\|\|\|\| \|\| \| ++# \| \|\|+\|\|\| +\|\|\| \|+\|\|\|\|\|\|\| \|\| Sbjct 1362 KPENEKDTTTEKTKKRGFLFKPKKPAFIS#TTPVVPTMPRLMKEVVP-DDRDDPEIIRNT 1419
Danio rerio	Query 1372 AENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 +\|\|\|\|\| \|\|\|\|+\|\|\|\|\| \|\|\|\| \| + # \|\| \|\|+\|\|\| \|\|\|\| \|+\|\|\| \|\|\| \|\| Sbjct 1369 SENEKDTTTEKSKKRGFFSKAKKAAFIA#PPPVVPTMPRLMEDVVP-DDRDDVEIISNT 1425
Prot=RyR1 isform from fish	Query 1373 ENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIILNT 1429 \|\|\|\|\| \| ++\| \|\|\|\|\|\|\| \|++\|# \|\| \|\|+\|\|\| \|\|\|\| \|+\|\|\| +\|\|\|\|\| Sbjct 1368 ENEKDPQQRKQEER-FLFKAKKPALIT#PPPVVPTMPRLVEDVVP-DDRDDVDIILNT 1422
Trypanosoma brucei	Query 1390 FKAKKVAMMT#QPPATP-TLPRLPHDVVPAD 1418 +\| +++ +\|\|# \|\|\| \|\|\|\|\|\| \|++ +\| Sbjct 42 YKLRRIVLMT#HMAATPATLPRLPRDIIVSD 71
Chloroflexus aurantiacus J-10-fl	Query 1371 RAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRLPHDVVPADNRDDPEIIL 1427 \|+\| \|\| + + \| ++\| #+\|\| \| +\| \| \| \|\| + \| \| \|\| Sbjct 861 RSERSADAQRGRYNRPGGRHSGRRVPDQP#EPPEAPAVPEPPTDDSPAASVPDAEAIL 917
Caenorhabditis briggsae	Query 1374 NEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRL 1410 \| \| \| \|\|++\|\| +\|+ \|\|\| #+\| \|\|\| + \| Sbjct 476 NSKRETVTKNEERGVIFELKKVLSDQ#KPSATPEVKGL 512
Verminephrobacter eiseniae EF01-2	Query 1390 FKAKKVAMMT#QPPATPTLPRLPHDVVPADNRD 1421 \| \|+ \| +\|#\|\|\| \| \| \| \| \|+\|\| Sbjct 637 FAARAVTNLT#QPPVAPATPEAPGAGAPDDDRD 668
Tetrahymena thermophila SB210	Query 1370 ARAENEKDATTEKNKKRGFLFKAKKVAMMT#QPPATPTLPRL-PHDVVPADNRDDPEIILN 1428 +++\|+ \| + ++++ \| \|+\|\|++\|+ # \|+ \|+ \| \| + + ++ \| ++\| Sbjct 297 SKSEDSNDQSPQESRNRSFIFKSEKILNQL#GLPSAPSSPTAEKQDEILDSSENNEEKLIN 356 Query 1429 T 1429 \| Query 1429 T 1429

* References

[PubMed ID: 19346234] Broman M, Gehrig A, Islander G, Bodelsson M, Ranklev-Twetman E, Ruffert H, Muller CR, Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth. 2009 May;102(5):642-9. Epub 2009 Apr 3.

» More (9) « Hide Below

[PubMed ID: 19191329] ... Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, Girard T, Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 Apr;30(4):590-8.

[PubMed ID: 19095005] ... Yamazaki D, Yamazaki T, Takeshima H, New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes. Pharmacol Ther. 2009 Mar;121(3):265-72. Epub 2008 Dec 3.

[PubMed ID: 19120137] ... Jurkovicova D, Sedlakova B, Lacinova L, Kopacek J, Sulova Z, Sedlak J, Krizanova O, Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line. Ann N Y Acad Sci. 2008 Dec;1148:421-7.

[PubMed ID: 19096717] ... Wimmers S, Halsband C, Seyler S, Milenkovic V, Strauss O, Voltage-dependent Ca2+ channels, not ryanodine receptors, activate Ca2+-dependent BK potassium channels in human retinal pigment epithelial cells. Mol Vis. 2008;14:2340-8. Epub 2008 Dec 15.

[PubMed ID: 1354642] ... Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH, Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54.

[PubMed ID: 1639409] ... Otsu K, Phillips MS, Khanna VK, de Leon S, MacLennan DH, Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics. 1992 Jul;13(3):835-7.

[PubMed ID: 1374404] ... Jayaraman T, Brillantes AM, Timerman AP, Fleischer S, Erdjument-Bromage H, Tempst P, Marks AR, FK506 binding protein associated with the calcium release channel (ryanodine receptor). J Biol Chem. 1992 May 15;267(14):9474-7.

[PubMed ID: 1774074] ... Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH, A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 Nov;11(3):751-5.

[PubMed ID: 1862346] ... Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH, Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991 Jul 26;253(5018):448-51.