MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000422

Record overview

MGPD IDMGP000422
Gene ID844
SpeciesHomo sapiens (Human)
Gene Namecalsequestrin 1 (fast-twitch, skeletal muscle)
Gene Symbol CASQ1
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
 
sig_peptide: 1..34
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 3489
peptide sequence: 
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQG
 
  logo