Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASQ1 Gene

protein-coding GIFtS: 55
GCID: GC01P160160

calsequestrin 1 (fast-twitch, skeletal muscle)

(Previous symbol: CASQ)

Explore 10 diseases affiliated with
CASQ1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calsequestrin 1 (Fast-Twitch, Skeletal Muscle)¹ ²		Calmitin³
CASQ¹ ² ³		Calmitine¹
PDIB1¹ ²		Calsequestrin-1¹
Calsequestrin, Skeletal Muscle Isoform² ³		Calmitin³

External Ids:	HGNC: 1512¹	Entrez Gene: 844²	Ensembl: ENSG00000143318⁷	OMIM: 114250⁵	UniProtKB: P31415³

Export aliases for CASQ1 gene to outside databases

Previous GC identifers: GC01P157952 GC01P155892 GC01P156938 GC01P157377 GC01P156973 GC01P158427 GC01P131517

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASQ1:

The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the

terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is

absent in patients with Duchenne and Becker types of muscular dystrophy. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415

Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal

calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers

muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2)

binds approximately 60 Ca(2+)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASQ1 gene promoter:
SRF Tal-1 Nkx5-1 Arnt E47 YY1 RORalpha1 Ik-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASQ1 promoter sequence

Search SABiosciences Chromatin IP Primers for CASQ1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASQ1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q23.2 HGNC cytogenetic band: 1q21

CASQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASQ1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P160160: view genomic region (about GC identifiers)

Start:	160,160,285 bp from pter	End:	160,171,676 bp from pter
Size:	11,392 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415 (See protein sequence)

Recommended Name: Calsequestrin-1 precursor

Size: 396 amino acids; 45160 Da

Subcellular location: Sarcoplasmic reticulum lumen. Mitochondrion. Note=This isoform of calsequestrin occurs in the

sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells. Also mitochondrial according

to PubMed:7945294

Sequence caution: Sequence=AAB32063.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAH22289.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36060.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

1 PDB 3D structure from and Proteopedia for CASQ1:

3UOM (3D)

Secondary accessions: B1AKZ2 B2R863 Q8TBW7

Explore the universe of human proteins at neXtProt for CASQ1: NX_P31415

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P31415

CASQ1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001222.3

ENSEMBL proteins:

ENSP00000357057 ENSP00000418051 ENSP00000357058

Reactome Protein details: P31415
Human Recombinant Protein Products for CASQ1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: CASQ1 OriGene Protein Over-expression Lysate: CASQ1 OriGene Custom Protein Services for CASQ1
	GenScript Custom Purified and Recombinant Proteins Services for CASQ1
	Novus Biologicals CASQ1 Proteins Novus Biologicals CASQ1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CASQ1

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	--	--
GO:0005759	mitochondrial matrix	TAS	7945294
GO:0005783	endoplasmic reticulum	NAS	7945294
GO:0005790	smooth endoplasmic reticulum	TAS	7945294

CASQ1 for ontologies About GeneDecksing

CASQ1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: CASQ1 OriGene Custom Antibody Services for CASQ1
	GenScript Custom Superior Antibodies Services for CASQ1
	Novus Biologicals CASQ1 Antibodies
	Abcam antibodies for CASQ1
	Uscn Antibodies for CASQ1
	ThermoFisher Antibody for CASQ1

Assay Products for CASQ1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CASQ1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CASQ1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CASQ1 for domains About GeneDecksing

3 InterPro domains/families:

IPR001393 Calsequestrin

IPR012336 Thioredoxin-like_fold

IPR018233 Calsequestrin_CS

Graphical View of Domain Structure for InterPro Entry P31415

ProtoNet protein and cluster: P31415

1 Blocks protein family: IPB001393 Calsequestrin

UniProtKB/Swiss-Prot: CASQ1_HUMAN, P31415

Similarity: Belongs to the calsequestrin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CASQ1_HUMAN, P31415

Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal

calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers

muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2)

binds approximately 60 Ca(2+)

Genatlas biochemistry entry for CASQ1:

calsequestrin 1,44kDa,fast twitch,skeletal muscle (calcium storage protein in terminal cisternae of sarcoplasmic

reticulum)

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

CASQ1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CASQ1:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Casq1):

growth/size

muscle

CASQ1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CASQ1

miRNA Products:		OriGene 3'-UTR Clone: CASQ1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASQ1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CASQ1:
		hsa-miR-579 hsa-miR-323-3p hsa-miR-324-3p hsa-miR-3065-3p hsa-miR-3667-3p hsa-miR-4308
		SwitchGear 3'UTR luciferase reporter plasmid: CASQ1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASQ1 (see all 4) OriGene shRNA RFP: CASQ1 OriGene siRNA: CASQ1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASQ1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CASQ1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CASQ1
			Sirion Biotech Customized adenovirus for overexpression of CASQ1 Sirion Biotech Customized adenovirus for potent knockdown of CASQ1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CASQ1 (NM_001231)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASQ1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASQ1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CASQ1
		Search LifeMap BioReagents cell lines for CASQ1
		Sirion Biotech Customized stable knockdown cell line services for CASQ1 Sirion Biotech Customized inducible knockdown cell line services for CASQ1 Sirion Biotech Customized stable overexpressing cell line services for CASQ1 Sirion Biotech Customized inducible overexpressing cell line services for CASQ1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for CASQ1

Calcium Regulation in the Cardiac Cell

3 Reactome Pathways for CASQ1

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

1 PharmGKB Pathway for CASQ1

Antiarrhythmic Pathway, Pharmacodynamics

CASQ1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CASQ1

1 Interacting protein for CASQ1 (P31415³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP2K7	O14733³	I2D: score=2

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006950	response to stress	--	--
GO:0007029	endoplasmic reticulum organization	IEA	--
GO:0007519	skeletal muscle tissue development	IEA	--
GO:0009408	response to heat	IEA	--
GO:0010033	response to organic substance	IEA	--

CASQ1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CASQ1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CASQ1

1 HMDB Compound for CASQ1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 Novoseek chemical compound relationships for CASQ1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ryanodine	78.4	2	19398037 (1), 16409161 (1)
calcium	49.4	9	8406504 (1), 20464711 (1), 16595676 (1), 19230141 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about CASQ1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASQ1 gene:

NM_001231.4

Unigene Cluster for CASQ1:

Calsequestrin 1 (fast-twitch, skeletal muscle)

Hs.632476 [show with all ESTs]

Unigene Representative Sequence: NM_001231

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000368078 ENST00000481081 ENST00000467691 ENST00000368079(uc010pja.2)

miRNA Products:		OriGene 3'-UTR Clone: CASQ1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASQ1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CASQ1:
		hsa-miR-579 hsa-miR-323-3p hsa-miR-324-3p hsa-miR-3065-3p hsa-miR-3667-3p hsa-miR-4308
		SwitchGear 3'UTR luciferase reporter plasmid: CASQ1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASQ1 (see all 4) OriGene shRNA RFP: CASQ1 OriGene siRNA: CASQ1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASQ1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CASQ1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CASQ1 (NM_001231)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASQ1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASQ1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASQ1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CASQ1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASQ1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASQ1

Additional cDNA sequence:

AK300713.1 AK313250.1 BC022289.1 S73775.1

5 DOTS entries:

DT.212675 DT.100765903 DT.121457423 DT.212676 DT.120841209

24/76 AceView cDNA sequences (see all 76):

AI201842 F26457 BQ187486 AL601303 F21999 BX500008 F30374 BX091591

AW780379 AI141895 AA251985 F36894 BC022289 BX501018 BI553245 F29621

F01019 BM719440 NM_001231 F31596 CF552348 F32998 BX500771 F32249

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CASQ1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTCTCCTG

About this image

CASQ1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Heart

Heart Tube

Heart

Right Ventricle

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CASQ1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASQ1

SOURCE GeneReport for Unigene cluster: Hs.632476

SABiosciences Custom PCR Arrays for CASQ1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASQ1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CASQ1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASQ1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASQ1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CASQ1 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Casq1^{1 , 5}	calsequestrin 1^{1, 5}	90.57(n)¹ 94.7(a)¹		1 (79.54 cM)⁵ 12372¹ NM_009813.2¹ NP_033943.2¹ 172209894⁵
lizard (Anolis carolinensis)	Reptilia	CASQ1⁶	--	82(a)	1 ↔ 1	GL344023.1(59279-82560)
African clawed frog (Xenopus laevis)	Amphibia	asph-prov²	Aspartyl beta-hydroxylase	77.11(n)		BC046947.1
zebrafish (Danio rerio)	Actinopterygii	casq1b¹	calsequestrin 1b	68.88(n) 66.85(a)		767757 NM_001076724.1 NP_001070192.1
worm (Caenorhabditis elegans)	Secernentea	csq-1¹	Protein CSQ-1	50.71(n) 35.37(a)		181563 NM_078037.3 NP_510438.1

ENSEMBL Gene Tree for CASQ1 (if available)
TreeFam Gene Tree for CASQ1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CASQ1 gene

CASQ2²

1 SIMAP similar gene for CASQ1 using alignment to 2 protein entries: CASQ1_HUMAN (see all proteins):

CASQ2

CASQ1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs147227240^1,2		--	160158424(+)	`GCGGGC/TGCTGG`	1	--	us2k¹		0	--	--	--	--
rs4656890^1,2	C	--	160158425(+)	`CGGGCG/ACTGGA`	1	--	us2k¹		1		NA	2
rs142837529^1,2		--	160158466(+)	`GGCAAC/TGAGAG`	1	--	us2k¹		0	--	--	--	--
rs147259211^1,2		--	160158477(+)	`GGAACA/GGGATG`	1	--	us2k¹		0	--	--	--	--
rs189334504^1,2		--	160158522(+)	`GGAGAG/TGGAAC`	1	--	us2k¹		0	--	--	--	--
rs180713111^1,2		--	160158583(+)	`GATTCA/CAGATG`	1	--	us2k¹		0	--	--	--	--
rs186356885^1,2		--	160158588(+)	`AAGATA/GGAACA`	1	--	us2k¹		0	--	--	--	--
rs114823639^1,2		--	160158610(+)	`CCAGCG/ATCTCT`	1	--	us2k¹		1		WA	118
rs111397720^1,2	C	--	160158630(+)	`TCTCCC/TGCCTC`	1	--	us2k¹		1		NA	2
rs115716672^1,2	F	--	160158680(+)	`CCTAGA/TTCATC`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for CASQ1 (160160285 - 160171676 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CASQ1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASQ1

DNA2.0 Custom Variant and Variant Library Synthesis for CASQ1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CASQ1 for disorders           About GeneDecksing

OMIM gene information: 114250    OMIM disorders: --

10 diseases for CASQ1:    About MalaCards

muscular dystrophy resting heart rate gas gangrene ventricular tachycardia

congenital heart defect achalasia eye disease graves' disease

myopathy thyroiditis

6 diseases from the University of Copenhagen DISEASES database for CASQ1:

Malignant hyperthermia Myopathy Gas gangrene Hyperthyroidism

Heart disease Autoimmune thyroiditis

2 Novoseek disease relationships for CASQ1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myopathy	36.7	1	20505833 (1)
autoimmunity	28	2	20464711 (1), 16792674 (1), 20505833 (1)

Genetic Association Database (GAD): CASQ1
Human Genome Epidemiology (HuGE) Navigator: CASQ1 (5 documents)

Export disorders for CASQ1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CASQ1 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with CASQ1)

Utopia: connect your pdf to the dynamic
world of online information

Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene. (PubMed id 2321095)^{1, 2, 3} Fujii J....MacLennan D.H. (1990)
Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish. (PubMed id 15561962)^{1, 4, 9} Fu M....Shuldiner A.R. (2004)
Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PubMed id 8406504)^{1, 3, 9} Otsu K....MacLennan D.H. (1993)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine. (PubMed id 7945294)^{1, 2} Bataille N.... Lestienne P. (1994)
Calsquestrin 1 (CASQ1) gene polymorphisms under chromosome 1q21 linkage peak are associated with type 2 diabetes in Northern European Caucasians. (PubMed id 15561963)^{1, 9} Das S.K....Elbein S.C. (2004)
Studies of association of the CASQ1 rs2275703 polymorphism in relation to type 2 diabetes and related quantitative metabolic traits among 7,088 Danish whites. (PubMed id 17681849)^{1, 9} Sparso T....Andersen G. (2007)
Type 2 diabetes susceptibility genes on chromosome 1q21-24. (PubMed id 18269685)^{1, 9} Hasstedt S.J....Elbein S.C. (2008)
Potential regulatory role of calsequestrin in platelet Ca(2+) homeostasis and its association with platelet hyperactivity in diabetes mellitus. (PubMed id 22060633)¹ Zhu Z....Luo D. (2012)
High-capacity Ca2+ binding of human skeletal calseques trin. (PubMed id 22337878)¹ Sanchez E.J....Kang C. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 844	HGNC: 1512	AceView: CASQ1	Ensembl:ENSG00000143318	euGenes: HUgn844
ECgene: CASQ1	H-InvDB: CASQ1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CASQ1	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Calsequestrin

Intellectual Property for CASQ1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CASQ1 gene:
Search GeneIP for patents involving CASQ1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for CASQ1		OriGene shRNA RFP for CASQ1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASQ1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASQ1
	OriGene Protein Over-expression Lysate for CASQ1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for CASQ1		OriGene 3'-UTR Clone for CASQ1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for CASQ1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CASQ1		OriGene Custom Protein Services for CASQ1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CASQ1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASQ1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASQ1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASQ1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASQ1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASQ1

	GenScript Custom Purified and Recombinant Proteins Services for CASQ1		GenScript cDNA clones with any tag delivered in your preferred vector for CASQ1
	GenScript Custom Assay Services for CASQ1		GenScript Custom Superior Antibodies Services for CASQ1
	GenScript Custom overexpressing Cell Line Services for CASQ1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CASQ1 promoter
	Search Chromatin IP Primers for CASQ1
	RT² qPCR Primer Assay in human, mouse, rat CASQ1
	GNC Network for CASQ1
	SABiosciences Custom PCR Arrays for CASQ1

Search Tocris compounds for CASQ1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	CASQ1 antibodies
	CASQ1 proteins
	CASQ1 lysates

	Antibodies for CASQ1
	See all of Abcam's Antibodies, Kits and Proteins for CASQ1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

CASQ1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CASQ1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ1

	SwitchGear 3'UTR luciferase reporter plasmids for CASQ1
	SwitchGear Promoter luciferase reporter plasmids for CASQ1

ThermoFisher Antibody for CASQ1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASQ1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CASQ1

Sirion Biotech Customized:

	stable knockdown cell line services for CASQ1
	inducible knockdown cell line services for CASQ1
	design and validation of potent shRNA sequences against CASQ1
	adenovirus for potent knockdown of CASQ1
	adenovirus for overexpression of CASQ1
	stable overexpressing cell line services for CASQ1
	inducible overexpressing cell line services for CASQ1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CASQ1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

CASQ1 Gene

calsequestrin 1 (fast-twitch, skeletal muscle)

Aliases
for CASQ1 gene

Summaries
for CASQ1 gene

Genomic Views
for CASQ1 gene

Proteins
for CASQ1 gene

Protein Domains /
Families
for CASQ1 gene

Function
for CASQ1 gene

Pathways & Interactions
for CASQ1 gene

Drugs & Compounds
for CASQ1 gene

Transcripts
for CASQ1 gene

Expression
for CASQ1 gene

Orthologs
for CASQ1 gene

Paralogs
for CASQ1 gene

Genomic Variants
for CASQ1 gene

Disorders / Diseases
for CASQ1 gene

Publications
for CASQ1 gene

External Searches for CASQ1 gene

Genome Databases showing CASQ1 gene

Other Databases showing CASQ1 gene

Specialized Databases showing CASQ1 gene

Intellectual Property
for CASQ1 gene

Products
for CASQ1 gene

View Random Gene

Advanced Search

Export list of displayed genes

CASQ1 Gene

calsequestrin 1 (fast-twitch, skeletal muscle)

Aliasesfor CASQ1 gene

Summariesfor CASQ1 gene

Genomic Viewsfor CASQ1 gene

Proteinsfor CASQ1 gene

Protein Domains /Familiesfor CASQ1 gene

Functionfor CASQ1 gene

Pathways & Interactionsfor CASQ1 gene

Drugs & Compoundsfor CASQ1 gene

Transcriptsfor CASQ1 gene

Expression for CASQ1 gene

Orthologsfor CASQ1 gene

Paralogsfor CASQ1 gene

Genomic Variantsfor CASQ1 gene

Disorders / Diseasesfor CASQ1 gene

Publicationsfor CASQ1 gene

External Searches for CASQ1 gene

Genome Databases showing CASQ1 gene

Other Databases showing CASQ1 gene

Specialized Databases showing CASQ1 gene

Intellectual Propertyfor CASQ1 gene

Productsfor CASQ1 gene

View Random Gene

Aliases
for CASQ1 gene

Summaries
for CASQ1 gene

Genomic Views
for CASQ1 gene

Proteins
for CASQ1 gene

Protein Domains /
Families
for CASQ1 gene

Function
for CASQ1 gene

Pathways & Interactions
for CASQ1 gene

Drugs & Compounds
for CASQ1 gene

Transcripts
for CASQ1 gene

Expression
for CASQ1 gene

Orthologs
for CASQ1 gene

Paralogs
for CASQ1 gene

Genomic Variants
for CASQ1 gene

Disorders / Diseases
for CASQ1 gene

Publications
for CASQ1 gene

Intellectual Property
for CASQ1 gene

Products
for CASQ1 gene