Details for: CASQ1

Gene ID: 844

Symbol: CASQ1

Ensembl ID: ENSG00000143318

Description: calsequestrin 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 6.07
    Marker Score: 3361
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 4.68
    Marker Score: 3561
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 3.67
    Marker Score: 2084
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.66
    Marker Score: 1403
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.93
    Marker Score: 805
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1176
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 861
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 491
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7690
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4823
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 507
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71837
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48061
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 513
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 466
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.94
    Marker Score: 281
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.93
    Marker Score: 1921.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.8
    Marker Score: 2274
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.76
    Marker Score: 11907
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.74
    Marker Score: 490
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 466
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 478
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.57
    Marker Score: 1077
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.56
    Marker Score: 169
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.43
    Marker Score: 227
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 184
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.34
    Marker Score: 122
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.31
    Marker Score: 788
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.31
    Marker Score: 98
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.31
    Marker Score: 624
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.28
    Marker Score: 212
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.27
    Marker Score: 112
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.26
    Marker Score: 76
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.24
    Marker Score: 114
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.24
    Marker Score: 242
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.22
    Marker Score: 854
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.22
    Marker Score: 275
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.22
    Marker Score: 72
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.2
    Marker Score: 468
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.19
    Marker Score: 213
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.17
    Marker Score: 102
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.17
    Marker Score: 44
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.16
    Marker Score: 73
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.16
    Marker Score: 461
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.16
    Marker Score: 49
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.15
    Marker Score: 47
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.14
    Marker Score: 85
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.14
    Marker Score: 8562
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.14
    Marker Score: 112
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.14
    Marker Score: 152
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.13
    Marker Score: 43
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.12
    Marker Score: 1148
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.12
    Marker Score: 133
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.12
    Marker Score: 89
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.11
    Marker Score: 52
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.11
    Marker Score: 110
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.11
    Marker Score: 218
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.11
    Marker Score: 158
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.1
    Marker Score: 59
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.1
    Marker Score: 95
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.1
    Marker Score: 56
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.1
    Marker Score: 35.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.09
    Marker Score: 372
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.09
    Marker Score: 88
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.09
    Marker Score: 193.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.09
    Marker Score: 132
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.08
    Marker Score: 720
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.08
    Marker Score: 83
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.08
    Marker Score: 49
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.08
    Marker Score: 1660
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.07
    Marker Score: 294
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.07
    Marker Score: 1606
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.07
    Marker Score: 14
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.07
    Marker Score: 157
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.07
    Marker Score: 59
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.06
    Marker Score: 89
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.06
    Marker Score: 42
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.06
    Marker Score: 21
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.06
    Marker Score: 57
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.06
    Marker Score: 60
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.06
    Marker Score: 31
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.06
    Marker Score: 32
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.06
    Marker Score: 14

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics** * CASQ1 is a transmembrane protein that is composed of 14 transmembrane domains. * It is expressed in high levels in skeletal muscle tissue. * CASQ1 is a calcium-release channel that is sensitive to calcium ions. * It is a key regulator of muscle contraction. * It is also involved in cardiac conduction and calcium homeostasis. **Pathways and functions** * CASQ1 is involved in the regulation of cardiac conduction. * It is a key regulator of skeletal muscle contraction. * It is also involved in calcium homeostasis and the regulation of muscle adaptation to denervation. * CASQ1 is a potential therapeutic target for a variety of diseases, including cardiovascular disease, muscle disorders, and cancer. **Clinical significance** CASQ1 is a promising target for the treatment of a variety of diseases. It is a key regulator of muscle contraction, and its overexpression is associated with a number of muscle disorders. Additionally, CASQ1 is involved in calcium homeostasis and cardiac conduction, making it a potential target for the treatment of cardiovascular disease. **Additional information** * CASQ1 is also known as SCM-1 (calcium-dependent SERCA modulator). * It is a member of the sarcocalcin family of calcium-release channels. * CASQ1 is a highly conserved protein, with a similar protein found in mammals, birds, and fish.

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 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 5 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 UniProtKB 3 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. For the full schema, download it here.