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CASQ1 calsequestrin 1 [ Homo sapiens (human) ]

Gene ID: 844, updated on 23-Nov-2021

Summary

Official Symbol
CASQ1provided by HGNC
Official Full Name
calsequestrin 1provided by HGNC
Primary source
HGNC:HGNC:1512
See related
Ensembl:ENSG00000143318 MIM:114250
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
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Genomic context

See CASQ1 in Genome Data Viewer
Location:
1q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (160190575..160201886)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160160365..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 DCAF8 divergent transcript

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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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
    5081..16392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001231.5NP_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, ENST00000368078.8
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    160190575..160201886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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