The following RYR1 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RYR1 gene which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
||ORF Nucleotide Sequence (Length: 15102bp)
||pcDNA3.1+/C-(K)DYK or customized vector
|Tag on pcDNA3.1+/C-(K)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||ryanodine receptor 1 isoform 2
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP231595.1, J05200.1,
AC011469.6, BI000785.1 and AC005933.1.
Summary: 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. [provided by RefSeq, Jul
Transcript Variant: This variant (2) lacks an alternate in-frame
exon, compared to variant 1, resulting in a shorter protein
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: J05200.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: full length.