QuickView for RYR1 (gene)

Gene Symbol:

RYR1 Homo sapiens

Full name:

ryanodine receptor 1

Synonyms:

CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, ryanodine receptor 1, central core disease of muscle, protein phosphatase 1, regulatory subunit 137, ryanodine receptor 1 (skeletal), sarcoplasmic reticulum calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, type 1-like ryanodine receptor

Genomic Location:

Chr 19: 43616180-43770044

Description:

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 my...

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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.

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Orthologs:

Mus musculus ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGANNYRGCA_TCF11MAFG_01 ,  LYF1_01 ,  TTF1_Q6 ,  GGGAGGRR_MAZ_Q6 ,  STAT_Q6 ,  CAGGTG_E12_Q6 ,  GGGCGGR_SP1_Q6 ,  TGCTGAY_UNKNOWN ,  E47_01 ,  RORA1_01 ,  GTGCCTT_MIR506 ,  GGCAGCT_MIR22 ,  CP2_02 ,  RORA2_01 ,  CAGCTG_AP4_Q5 ,  YNGTTNNNATT_UNKNOWN ,  ACCTGTTG_UNKNOWN

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-22 ,  Predicted Gene Targets for miR-124a

Cytogenetic Map:

19q13.2

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