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    CASQ1 calsequestrin 1 [ Homo sapiens (human) ]

    Gene ID: 844, updated on 9-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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)