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CASQ1 calsequestrin 1 [ Homo sapiens (human) ]

Gene ID: 844, updated on 10-Dec-2024

Summary

Official Symbol
CASQ1provided by HGNC
Official Full Name
calsequestrin 1provided by HGNC
Primary source
HGNC:HGNC:1512
See related
Ensembl:ENSG00000143318 MIM:114250; AllianceGenome:HGNC:1512
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; CSQ1; 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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160190575..160201886)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159327652..159338962)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160160365..160171676)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160085040-160085823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1914 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160135860-160136392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160138857-160139851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1459 Neighboring gene uncharacterized LOC729867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160179879-160180545 Neighboring gene proliferation and apoptosis adaptor protein 15 Neighboring gene DDB1 and CUL4 associated factor 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1460 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160231274-160232222 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
Component Evidence Code Pubs
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
 
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
 
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
    B1AKZ2, B2R863, P31415, Q8TBW7
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159327652..159338962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)