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

[ CaMP Format ]

This entry is computationally expanded from SB0015

* Basic Information

OrganismHomo sapiens (human)
Protein NamesRyanodine 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 NamesRYR1; RYDR; ryanodine receptor 1 (skeletal)
Gene Locus19q13.1; chromosome 19
GO FunctionNot 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).

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* 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 namebeginendscoree-value
Ins145_P3_rec 1. 8210360.14.1e-105
MIR 1. 211390265.51.2e-76
RYDR_ITPR 1. 439643328.41.4e-95
SPRY 1. 658796137.63.9e-38
RyR 1. 849943222.51.1e-63
RyR 2. 9631057211.03.1e-60
SPRY 2. 10841207162.11.7e-45
CsbD 1. 13421381-23.77.6
--- cleavage 1399 ---
SPRY 3. 14291569144.33.8e-40
DUF2164 1. 19291975-42.74.5
RYDR_ITPR 2. 21572365308.31.6e-89
RyR 3. 27342828217.24.2e-62
--- cleavage 2843 ---
RyR 4. 28542942184.72.7e-52
Exonuc_VII_S 1. 30963125-27.56.7
Transposase_12 1. 33263386-56.94
DUF1081 1. 35053594-32.03.7
Peptidase_C41 1. 36263779-35.62.3
HTH_DeoR 1. 38123861-17.55.4
RIH_assoc 1. 38704003326.07.8e-95
CHCH 1. 40984137-5.87.5
Hpt 1. 42314323-10.07.5
RR_TM4-6 1. 43824671427.12.7e-125
Ion_trans 1. 4762493736.21.4e-07
zf-C2H2 1. 495749842.36.9

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)


Ser2843 Gln

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)


Thr1399 Gln

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)

* 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.

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