Details for: CASQ1

Gene ID: 844

Symbol: CASQ1

Ensembl ID: ENSG00000143318

Description: calsequestrin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 3.3697
    Cell Significance Index: 212.3800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 3.0145
    Cell Significance Index: 48.6400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.7406
    Cell Significance Index: 168.0300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.3742
    Cell Significance Index: 57.9300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8558
    Cell Significance Index: 18.5400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7558
    Cell Significance Index: 6.9600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6983
    Cell Significance Index: 132.9000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.6711
    Cell Significance Index: 17.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6223
    Cell Significance Index: 19.9300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5526
    Cell Significance Index: 54.6700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.5084
    Cell Significance Index: 6.0600
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.4942
    Cell Significance Index: 3.9500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4556
    Cell Significance Index: 411.3300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3912
    Cell Significance Index: 20.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.3324
    Cell Significance Index: 70.0200
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.3201
    Cell Significance Index: 2.3500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2853
    Cell Significance Index: 4.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2460
    Cell Significance Index: 40.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.2299
    Cell Significance Index: 170.2700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2089
    Cell Significance Index: 4.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1981
    Cell Significance Index: 21.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.1497
    Cell Significance Index: 84.4000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1156
    Cell Significance Index: 8.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0881
    Cell Significance Index: 17.6700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0666
    Cell Significance Index: 41.6100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0510
    Cell Significance Index: 9.2000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0500
    Cell Significance Index: 0.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0388
    Cell Significance Index: 4.7700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0212
    Cell Significance Index: 1.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0184
    Cell Significance Index: 6.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0122
    Cell Significance Index: 0.5600
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0107
    Cell Significance Index: 0.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0029
    Cell Significance Index: 0.2200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0021
    Cell Significance Index: 0.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0006
    Cell Significance Index: 0.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0003
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0007
    Cell Significance Index: -0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0022
    Cell Significance Index: -4.1700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0023
    Cell Significance Index: -0.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0036
    Cell Significance Index: -6.6400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0040
    Cell Significance Index: -0.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0043
    Cell Significance Index: -6.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0049
    Cell Significance Index: -3.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0050
    Cell Significance Index: -6.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0051
    Cell Significance Index: -2.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0052
    Cell Significance Index: -3.7800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0062
    Cell Significance Index: -4.6700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0064
    Cell Significance Index: -0.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0080
    Cell Significance Index: -4.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0085
    Cell Significance Index: -0.5100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0090
    Cell Significance Index: -0.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0097
    Cell Significance Index: -2.7800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0104
    Cell Significance Index: -0.3000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0116
    Cell Significance Index: -0.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0171
    Cell Significance Index: -3.3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0219
    Cell Significance Index: -2.5100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0230
    Cell Significance Index: -0.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0246
    Cell Significance Index: -0.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0252
    Cell Significance Index: -3.6700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0253
    Cell Significance Index: -0.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0287
    Cell Significance Index: -3.3500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0303
    Cell Significance Index: -0.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0308
    Cell Significance Index: -3.9800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0339
    Cell Significance Index: -0.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0363
    Cell Significance Index: -3.7100
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0395
    Cell Significance Index: -0.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0401
    Cell Significance Index: -1.8700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0404
    Cell Significance Index: -5.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0431
    Cell Significance Index: -3.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0456
    Cell Significance Index: -4.7500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0468
    Cell Significance Index: -0.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0583
    Cell Significance Index: -3.9200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0594
    Cell Significance Index: -7.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0598
    Cell Significance Index: -1.6700
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0651
    Cell Significance Index: -0.9000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0659
    Cell Significance Index: -1.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0688
    Cell Significance Index: -4.2300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0755
    Cell Significance Index: -1.2900
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.0792
    Cell Significance Index: -0.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0798
    Cell Significance Index: -3.7500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0834
    Cell Significance Index: -4.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0939
    Cell Significance Index: -5.2700
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0968
    Cell Significance Index: -1.2400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1030
    Cell Significance Index: -3.6100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1033
    Cell Significance Index: -1.7800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1042
    Cell Significance Index: -3.3200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1043
    Cell Significance Index: -1.4300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1070
    Cell Significance Index: -5.4100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1084
    Cell Significance Index: -3.5500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1122
    Cell Significance Index: -2.1900
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1136
    Cell Significance Index: -1.2400
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1141
    Cell Significance Index: -1.2600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1198
    Cell Significance Index: -1.7400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1251
    Cell Significance Index: -1.3600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1276
    Cell Significance Index: -3.2500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1284
    Cell Significance Index: -2.0600
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1340
    Cell Significance Index: -1.3900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1341
    Cell Significance Index: -1.7200
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1369
    Cell Significance Index: -1.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CASQ1 is a highly abundant protein in skeletal and cardiac muscle tissues, where it is predominantly localized to the sarcoplasmic reticulum (SR). The protein exhibits high affinity for calcium ions, allowing it to bind and sequester large amounts of calcium. CASQ1 is also involved in the regulation of store-operated calcium channels, which are critical for the replenishment of calcium stores in muscle cells. The protein's unique structure, comprising four EF-hand domains, enables it to bind and release calcium ions in a highly regulated manner. **Pathways and Functions:** CASQ1 is involved in several key pathways, including: 1. **Positive regulation of release of sequestered calcium ion into cytosol**: CASQ1 facilitates the release of calcium ions from the SR, which is essential for muscle contraction and relaxation. 2. **Positive regulation of store-operated calcium channel activity**: CASQ1 modulates the activity of store-operated calcium channels, ensuring the efficient replenishment of calcium stores in muscle cells. 3. **Regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion**: CASQ1 plays a crucial role in modulating muscle contraction and relaxation by regulating the release of sequestered calcium ions. 4. **Response to denervation involved in regulation of muscle adaptation**: CASQ1 is involved in the regulation of muscle adaptation to denervation, a process that is essential for maintaining muscle function and integrity. **Clinical Significance:** Dysregulation of CASQ1 has been implicated in various diseases, including: 1. **Muscular dystrophy**: Mutations in the CASQ1 gene have been associated with certain forms of muscular dystrophy, highlighting the protein's critical role in muscle function and integrity. 2. **Cardiac arrhythmias**: Alterations in CASQ1 expression and function have been linked to cardiac arrhythmias, underscoring the protein's importance in maintaining cardiac calcium homeostasis. 3. **Neurodegenerative disorders**: CASQ1 has been implicated in the pathogenesis of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, where calcium dysregulation is a key feature. In conclusion, CASQ1 is a critical protein that plays a pivotal role in maintaining calcium homeostasis within cells, particularly in skeletal and cardiac muscle tissues. Its dysregulation has significant implications for disease pathogenesis, highlighting the importance of further research into the mechanisms underlying CASQ1 function and its role in human disease.

Genular Protein ID: 2783472432

Symbol: CASQ1_HUMAN

Name: Calsequestrin-1

UniProtKB Accession Codes:

P31415 B1AKZ2 B2R863 Q8TBW7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EMBL 5 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 22 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2321095

Title: Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene.

PubMed ID: 2321095

DOI: 10.1007/bf01233048

PubMed ID: 7945294

Title: Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine.

PubMed ID: 7945294

DOI: 10.1006/bbrc.1994.2351

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 27185316

Title: Calsequestrin-1 regulates store-operated Ca2+ entry by inhibiting STIM1 aggregation.

PubMed ID: 27185316

DOI: 10.1159/000445574

PubMed ID: 22337878

Title: High-capacity Ca2+ binding of human skeletal calsequestrin.

PubMed ID: 22337878

DOI: 10.1074/jbc.m111.335075

PubMed ID: 25116801

Title: A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

PubMed ID: 25116801

DOI: 10.1002/humu.22631

PubMed ID: 26136523

Title: A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.

PubMed ID: 26136523

DOI: 10.1136/jmedgenet-2014-102882

PubMed ID: 27196359

Title: A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.

PubMed ID: 27196359

DOI: 10.1371/journal.pone.0155516

PubMed ID: 28895244

Title: Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

PubMed ID: 28895244

DOI: 10.1002/humu.23338

Sequence Information:

  • Length: 396
  • Mass: 45160
  • Checksum: C20388AD8870E12D
  • Sequence:
    • MSATDRMGPR AVPGLRLALL LLLVLGTPKS GVQGQEGLDF PEYDGVDRVI NVNAKNYKNV 
FKKYEVLALL YHEPPEDDKA SQRQFEMEEL ILELAAQVLE DKGVGFGLVD SEKDAAVAKK 
LGLTEVDSMY VFKGDEVIEY DGEFSADTIV EFLLDVLEDP VELIEGEREL QAFENIEDEI 
KLIGYFKSKD SEHYKAFEDA AEEFHPYIPF FATFDSKVAK KLTLKLNEID FYEAFMEEPV 
TIPDKPNSEE EIVNFVEEHR RSTLRKLKPE SMYETWEDDM DGIHIVAFAE EADPDGFEFL 
ETLKAVAQDN TENPDLSIIW IDPDDFPLLV PYWEKTFDID LSAPQIGVVN VTDADSVWME 
MDDEEDLPSA EELEDWLEDV LEGEINTEDD DDDDDD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.