Format

Send to:

Choose Destination

CASQ1 calsequestrin 1 [ Homo sapiens (human) ]

Gene ID: 844, updated on 12-Aug-2018

Summary

Official Symbol
CASQ1provided by HGNC
Official Full Name
calsequestrin 1provided by HGNC
Primary source
HGNC:HGNC:1512
See related
Ensembl:ENSG00000143318 MIM:114250; Vega:OTTHUMG00000031607
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CASQ; PDIB1; VMCQA
Summary
This 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]
Expression
Biased expression in esophagus (RPKM 21.8), prostate (RPKM 18.0) and 6 other tissues See more
Orthologs

Genomic context

See CASQ1 in Genome Data Viewer
Location:
1q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160190495..160201886)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160160285..160171676)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene uncharacterized LOC729867 Neighboring gene proliferation and apoptosis adaptor protein 15 Neighboring gene DDB1 and CUL4 associated factor 8 Neighboring gene uncharacterized LOC100287049

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
positive regulation of release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of store-operated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein polymerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to denervation involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
 
response to heat IEA
Inferred from Electronic Annotation
more info
 
response to organic substance IEA
Inferred from Electronic Annotation
more info
 
sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
I band IEA
Inferred from Electronic Annotation
more info
 
T-tubule IEA
Inferred from Electronic Annotation
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion HDA PubMed 
sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum lumen ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
smooth endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
terminal cisterna lumen IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
calsequestrin-1
Names
calmitin
calmitine
calsequestrin 1 (fast-twitch, skeletal muscle)
calsequestrin, skeletal muscle isoform

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042040.1 RefSeqGene

    Range
    5001..16392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001231.4NP_001222.3  calsequestrin-1 precursor

    See identical proteins and their annotated locations for NP_001222.3

    Status: REVIEWED

    Source sequence(s)
    AA197256, BC022289, DA766051
    Consensus CDS
    CCDS1198.2
    UniProtKB/Swiss-Prot
    P31415
    Related
    ENSP00000357057.3, OTTHUMP00000029889, ENST00000368078.7, OTTHUMT00000077412
    Conserved Domains (4) summary
    cd03065
    Location:39158
    PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...
    cd03066
    Location:160261
    PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...
    cd03074
    Location:262381
    PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...
    pfam01216
    Location:37386
    Calsequestrin; Calsequestrin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    160190495..160201886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center