» 
alemán árabe búlgaro checo chino coreano croata danés eslovaco esloveno español estonio farsi finlandés francés griego hebreo hindù húngaro indonesio inglés islandés italiano japonés letón lituano malgache neerlandés noruego polaco portugués rumano ruso serbio sueco tailandès turco vietnamita
alemán árabe búlgaro checo chino coreano croata danés eslovaco esloveno español estonio farsi finlandés francés griego hebreo hindù húngaro indonesio inglés islandés italiano japonés letón lituano malgache neerlandés noruego polaco portugués rumano ruso serbio sueco tailandès turco vietnamita

definición - RYR1

RyR1 (n.)

1.(MeSH)A tetrameric calcium release channel in the SARCOPLASMIC RETICULUM membrane of smooth muscle cells, acting oppositely to SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. It is important in skeletal and cardiac excitation-contraction coupling and studied by using RYANODINE. Abnormalities are implicated in ARRHYTHMIAS, CARDIAC and MUSCULAR DISEASES.

   Publicidad ▼

definición (más)

definición de RYR1 (Wikipedia)

sinónimos - RYR1

   Publicidad ▼

diccionario analógico

Wikipedia - ver también

Wikipedia

RYR1

From Wikipedia, the free encyclopedia

Jump to: navigation, search
edit
Ryanodine receptor 1 (skeletal)

PDB rendering based on 2bcx.
Available structures
2bcx
Identifiers
SymbolsRYR1; CCO; MHS; MHS1; RYDR; RYR; SKRR
External IDsOMIM180901 MGI99659 HomoloGene68069 GeneCards: RYR1 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez626120190
EnsemblENSG00000196218ENSMUSG00000030592
UniProtP21817n/a
RefSeq (mRNA)NM_000540NM_009109
RefSeq (protein)NP_000531NP_033135
Location (UCSC)Chr 19:
43.62 - 43.77 Mb
Chr 7:
28.71 - 28.83 Mb
PubMed search[1][2]

Ryanodine receptor 1 is a protein that in humans is encoded by the RYR1 gene.[1][2]

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.[3]

Contents

Interactions

RYR1 has been shown to interact with HOMER2,[4] HOMER3,[4] HOMER1,[5][4] TRDN[6][7][8][9] and FKBP1A.[10][11][12]

See also

References

  1. ^ Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH (Aug 1991). [Expression error: Missing operand for > "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia"]. Science 253 (5018): 448–51. PMID 1862346. 
  2. ^ Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I (Jun 2006). [Expression error: Missing operand for > "Central core disease is due to RYR1 mutations in more than 90% of patients"]. Brain 129 (Pt 6): 1470–80. doi:10.1093/brain/awl077. PMID 16621918. 
  3. ^ "Entrez Gene: RYR1 ryanodine receptor 1 (skeletal)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6261. 
  4. ^ a b c Feng, Wei; Tu Jiancheng, Yang Tianzhong, Vernon Patty Shih, Allen Paul D, Worley Paul F, Pessah Isaac N (Nov. 2002). [Expression error: Missing operand for > "Homer regulates gain of ryanodine receptor type 1 channel complex"]. J. Biol. Chem. (United States) 277 (47): 44722–30. doi:10.1074/jbc.M207675200. ISSN 0021-9258. PMID 12223488. 
  5. ^ Hwang, Sung-Yong; Wei Jiao, Westhoff Jens H, Duncan R Scott, Ozawa Fumiko, Volpe Pompeo, Inokuchi Kaoru, Koulen Peter (Aug. 2003). [Expression error: Missing operand for > "Differential functional interaction of two Vesl/Homer protein isoforms with ryanodine receptor type 1: a novel mechanism for control of intracellular calcium signaling"]. Cell Calcium (Scotland) 34 (2): 177–84. ISSN 0143-4160. PMID 12810060. 
  6. ^ Lee, Jae Man; Rho Seong-Hwan, Shin Dong Wook, Cho Chunghee, Park Woo Jin, Eom Soo Hyun, Ma Jianjie, Kim Do Han (Feb. 2004). [Expression error: Missing operand for > "Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin"]. J. Biol. Chem. (United States) 279 (8): 6994–7000. doi:10.1074/jbc.M312446200. ISSN 0021-9258. PMID 14638677. 
  7. ^ Caswell, A H; Motoike H K, Fan H, Brandt N R (Jan. 1999). [Expression error: Missing operand for > "Location of ryanodine receptor binding site on skeletal muscle triadin"]. Biochemistry (UNITED STATES) 38 (1): 90–7. doi:10.1021/bi981306+. ISSN 0006-2960. PMID 9890886. 
  8. ^ Guo, W; Campbell K P (Apr. 1995). [Expression error: Missing operand for > "Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulum"]. J. Biol. Chem. (UNITED STATES) 270 (16): 9027–30. ISSN 0021-9258. PMID 7721813. 
  9. ^ Groh, S; Marty I, Ottolia M, Prestipino G, Chapel A, Villaz M, Ronjat M (Apr. 1999). [Expression error: Missing operand for > "Functional interaction of the cytoplasmic domain of triadin with the skeletal ryanodine receptor"]. J. Biol. Chem. (UNITED STATES) 274 (18): 12278–83. ISSN 0021-9258. PMID 10212196. 
  10. ^ Avila, Guillermo; Lee Eun Hui, Perez Claudio F, Allen P D, Dirksen Robert T (Jun. 2003). [Expression error: Missing operand for > "FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes"]. J. Biol. Chem. (United States) 278 (25): 22600–8. doi:10.1074/jbc.M205866200. ISSN 0021-9258. PMID 12704193. 
  11. ^ Bultynck, G; De Smet P, Rossi D, Callewaert G, Missiaen L, Sorrentino V, De Smedt H, Parys J B (Mar. 2001). [Expression error: Missing operand for > "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. (England) 354 (Pt 2): 413–22. ISSN 0264-6021. PMID 11171121. 
  12. ^ Gaburjakova, M; Gaburjakova J, Reiken S, Huang F, Marx S O, Rosemblit N, Marks A R (May. 2001). [Expression error: Missing operand for > "FKBP12 binding modulates ryanodine receptor channel gating"]. J. Biol. Chem. (United States) 276 (20): 16931–5. doi:10.1074/jbc.M100856200. ISSN 0021-9258. PMID 11279144. 

Further reading

  • Treves S, Anderson AA, Ducreux S, et al. (2005). [Expression error: Missing operand for > "Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders."]. Neuromuscul. Disord. 15 (9-10): 577–87. doi:10.1016/j.nmd.2005.06.008. PMID 16084090. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

 

todas las traducciones de RYR1


Contenido de sensagent

  • definiciones
  • sinónimos
  • antónimos
  • enciclopedia

  • definition
  • synonym

   Publicidad ▼

Investigaciones anteriores en el diccionario :

2758 visitantes en línea

computado en 0,093s

   Publicidad ▼

   Publicidad ▼