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MT000108

Record overview

MITO IDMT000108
Gene ID844
SpeciesHomo sapiens (Human)
Gene Namecalsequestrin 1 (fast-twitch, skeletal muscle)
Gene SymbolCASQ1
SynonymsCASQ; PDIB1;
Alternate namescalsequestrin-1; calmitin; calmitine; calsequestrin, skeletal muscle isoform;
Chromosome1
Map Location1q21
SummaryThis gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
OrthologsView orthologs and multiple alignments for CASQ1

Proteins

calsequestrin-1 precursor
Refseq ID:NP_001222
Protein GI:227430327
UniProt ID:P31415
mRNA ID:NM_001231
Length:396
RefSeq Status:
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNVFKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLE
DKGVGFGLVDSEKDAAVAKKLGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEIKLIGYFKSKDSEHYKAFEDA
AEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPVTIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWMEMDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD
 
N
sig_peptide: 1..34
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3489
peptide sequence: 
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQG