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Protein

Calsequestrin-1

Gene

CASQ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca2+ ions (PubMed:28895244). Regulates the release of lumenal Ca2+ via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca2+ entry (SOCE) activity (PubMed:27185316).1 Publication3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • identical protein binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMuscle protein
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2672351 Stimuli-sensing channels
R-HSA-5578775 Ion homeostasis

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.88.1.1 the calciquestrin (casq) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Calsequestrin-1
Alternative name(s):
Calmitine1 Publication
Calsequestrin, skeletal muscle isoform
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CASQ1
Synonyms:CASQ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143318.12

Human Gene Nomenclature Database

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HGNCi
HGNC:1512 CASQ1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
114250 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P31415

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, vacuolar, with CASQ1 aggregates (VMCQA)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic.
See also OMIM:616231
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073337244D → G in VMCQA; no effect on calcium-dependent susceptibility to proteolytic degradation; increased calcium-dependent aggregation; causes impaired polymerization of the protein; no effect on subcellular localization; decreased calcium content of sarcoplasmic reticulum stores; reduced sarcoplasmic reticulum calcium release during excitation-contraction coupling. 4 PublicationsCorresponds to variant dbSNP:rs730882052EnsemblClinVar.1
Myopathy, tubular aggregate, 1 (TAM1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness.
See also OMIM:160565
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07970444D → N in TAM1; increased calcium-dependent susceptibility to proteolytic degradation; decreased calcium-dependent aggregation; decreased calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; loss of the ability to inhibit store-operated calcium entry (SOCE) activity. 1 PublicationCorresponds to variant dbSNP:rs140253806Ensembl.1
Natural variantiVAR_079705103G → D in TAM1; increased calcium-dependent susceptibility to proteolytic degradation; decreased calcium-dependent aggregation; decreased calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; no effect of the ability to inhibit store-operated calcium entry (SOCE) activity; muscle fibers with the mutation have significantly decreased calcium-dependent sensitivity to caffeine. 1 Publication1
Natural variantiVAR_079706385I → T in TAM1; no effect on calcium-dependent susceptibility to proteolytic degradation; increased moderately calcium-dependent aggregation; increased moderately calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; loss of the ability to inhibit store-operated calcium entry (SOCE) activity. 1 PublicationCorresponds to variant dbSNP:rs371278891Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
844

MalaCards human disease database

More...
MalaCardsi
CASQ1
MIMi160565 phenotype
616231 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143318

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
88635 Myopathy due to calsequestrin and SERCA1 protein overload
2593 Tubular aggregate myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26095

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CASQ1

Domain mapping of disease mutations (DMDM)

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DMDMi
341940551

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 34Sequence analysisAdd BLAST34
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000421235 – 396Calsequestrin-1Add BLAST362

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei43PhosphotyrosineBy similarity1
Modified residuei81PhosphoserineBy similarity1
Modified residuei124PhosphothreonineBy similarity1
Modified residuei216PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
P31415

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P31415

PeptideAtlas

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PeptideAtlasi
P31415

PRoteomics IDEntifications database

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PRIDEi
P31415

ProteomicsDB human proteome resource

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ProteomicsDBi
54788

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P31415

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P31415

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in myoblasts (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143318 Expressed in 132 organ(s), highest expression level in quadriceps femoris

CleanEx database of gene expression profiles

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CleanExi
HS_CASQ1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P31415 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P31415 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB015170
HPA007845
HPA026823

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer; increases in response to a depletion of intracellular calcium (PubMed:27185316, PubMed:26136523). Homodimer (PubMed:27185316, PubMed:26136523, PubMed:28895244). homotetramer and homopolymer. Can form linear homooligomers. Ca2+ ions promote oligomerization. Interacts (via C-terminal end and preferentially with the monomeric form) with STIM1; this interaction increases in response to a depletion of intracellular calcium, decreases both STIM1 aggregation and clustering, interaction of STIM1 with ORAI1 and store-operated Ca2+ entry (SOCE) activity (PubMed:27185316). Interacts with ASPH and TRDN (By similarity).By similarity4 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107294, 1 interactor

Protein interaction database and analysis system

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IntActi
P31415, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000357057

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P31415

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P31415

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi15 – 25Poly-LeuAdd BLAST11
Compositional biasi353 – 396Asp-richAdd BLAST44

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the calsequestrin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IGY5 Eukaryota
ENOG4111R2M LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000019377

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000049047

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050805

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P31415

Identification of Orthologs from Complete Genome Data

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OMAi
DSIYVFK

Database of Orthologous Groups

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OrthoDBi
EOG091G08VX

Database for complete collections of gene phylogenies

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PhylomeDBi
P31415

TreeFam database of animal gene trees

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TreeFami
TF313796

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001393 Calsequestrin
IPR018233 Calsequestrin_CS
IPR036249 Thioredoxin-like_sf

The PANTHER Classification System

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PANTHERi
PTHR10033 PTHR10033, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01216 Calsequestrin, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52833 SSF52833, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00863 CALSEQUESTRIN_1, 1 hit
PS00864 CALSEQUESTRIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P31415-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSATDRMGPR AVPGLRLALL LLLVLGTPKS GVQGQEGLDF PEYDGVDRVI
60 70 80 90 100
NVNAKNYKNV FKKYEVLALL YHEPPEDDKA SQRQFEMEEL ILELAAQVLE
110 120 130 140 150
DKGVGFGLVD SEKDAAVAKK LGLTEVDSMY VFKGDEVIEY DGEFSADTIV
160 170 180 190 200
EFLLDVLEDP VELIEGEREL QAFENIEDEI KLIGYFKSKD SEHYKAFEDA
210 220 230 240 250
AEEFHPYIPF FATFDSKVAK KLTLKLNEID FYEAFMEEPV TIPDKPNSEE
260 270 280 290 300
EIVNFVEEHR RSTLRKLKPE SMYETWEDDM DGIHIVAFAE EADPDGFEFL
310 320 330 340 350
ETLKAVAQDN TENPDLSIIW IDPDDFPLLV PYWEKTFDID LSAPQIGVVN
360 370 380 390
VTDADSVWME MDDEEDLPSA EELEDWLEDV LEGEINTEDD DDDDDD
Length:396
Mass (Da):45,160
Last modified:July 27, 2011 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC20388AD8870E12D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JAC8C9JAC8_HUMAN
Calsequestrin
CASQ1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB32063 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH22289 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG36060 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti356 – 357SV → RL in AAB32063 (PubMed:7945294).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07970444D → N in TAM1; increased calcium-dependent susceptibility to proteolytic degradation; decreased calcium-dependent aggregation; decreased calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; loss of the ability to inhibit store-operated calcium entry (SOCE) activity. 1 PublicationCorresponds to variant dbSNP:rs140253806Ensembl.1
Natural variantiVAR_079705103G → D in TAM1; increased calcium-dependent susceptibility to proteolytic degradation; decreased calcium-dependent aggregation; decreased calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; no effect of the ability to inhibit store-operated calcium entry (SOCE) activity; muscle fibers with the mutation have significantly decreased calcium-dependent sensitivity to caffeine. 1 Publication1
Natural variantiVAR_053021140Y → F. Corresponds to variant dbSNP:rs34489853Ensembl.1
Natural variantiVAR_073337244D → G in VMCQA; no effect on calcium-dependent susceptibility to proteolytic degradation; increased calcium-dependent aggregation; causes impaired polymerization of the protein; no effect on subcellular localization; decreased calcium content of sarcoplasmic reticulum stores; reduced sarcoplasmic reticulum calcium release during excitation-contraction coupling. 4 PublicationsCorresponds to variant dbSNP:rs730882052EnsemblClinVar.1
Natural variantiVAR_079706385I → T in TAM1; no effect on calcium-dependent susceptibility to proteolytic degradation; increased moderately calcium-dependent aggregation; increased moderately calcium-dependent polymerization; no effect on subcellular localization; no effect on the subcellular localization of STIM1; decreased calcium content of intracellular stores; loss of the ability to inhibit store-operated calcium entry (SOCE) activity. 1 PublicationCorresponds to variant dbSNP:rs371278891Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S73775 mRNA Translation: AAB32063.1 Different initiation.
AK313250 mRNA Translation: BAG36060.1 Different initiation.
AL121987 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52736.1
BC022289 mRNA Translation: AAH22289.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS1198.2

Protein sequence database of the Protein Information Resource

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PIRi
A60424

NCBI Reference Sequences

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RefSeqi
NP_001222.3, NM_001231.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.632476

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000368078; ENSP00000357057; ENSG00000143318

Database of genes from NCBI RefSeq genomes

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GeneIDi
844

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:844

UCSC genome browser

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UCSCi
uc010pja.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Calsequestrin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S73775 mRNA Translation: AAB32063.1 Different initiation.
AK313250 mRNA Translation: BAG36060.1 Different initiation.
AL121987 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW52736.1
BC022289 mRNA Translation: AAH22289.1 Different initiation.
CCDSiCCDS1198.2
PIRiA60424
RefSeqiNP_001222.3, NM_001231.4
UniGeneiHs.632476

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3UOMX-ray2.02A/B/C/D/E/F35-396[»]
5CRDX-ray2.08A35-396[»]
5CREX-ray3.31A35-396[»]
5CRGX-ray1.97A/B/C/D35-396[»]
5CRHX-ray2.03A/B35-396[»]
ProteinModelPortaliP31415
SMRiP31415
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107294, 1 interactor
IntActiP31415, 1 interactor
STRINGi9606.ENSP00000357057

Protein family/group databases

TCDBi8.A.88.1.1 the calciquestrin (casq) family

PTM databases

iPTMnetiP31415
PhosphoSitePlusiP31415

Polymorphism and mutation databases

BioMutaiCASQ1
DMDMi341940551

Proteomic databases

MaxQBiP31415
PaxDbiP31415
PeptideAtlasiP31415
PRIDEiP31415
ProteomicsDBi54788

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
844
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368078; ENSP00000357057; ENSG00000143318
GeneIDi844
KEGGihsa:844
UCSCiuc010pja.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
844
DisGeNETi844
EuPathDBiHostDB:ENSG00000143318.12

GeneCards: human genes, protein and diseases

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GeneCardsi
CASQ1
HGNCiHGNC:1512 CASQ1
HPAiCAB015170
HPA007845
HPA026823
MalaCardsiCASQ1
MIMi114250 gene
160565 phenotype
616231 phenotype
neXtProtiNX_P31415
OpenTargetsiENSG00000143318
Orphaneti88635 Myopathy due to calsequestrin and SERCA1 protein overload
2593 Tubular aggregate myopathy
PharmGKBiPA26095

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGY5 Eukaryota
ENOG4111R2M LUCA
GeneTreeiENSGT00390000019377
HOGENOMiHOG000049047
HOVERGENiHBG050805
InParanoidiP31415
OMAiDSIYVFK
OrthoDBiEOG091G08VX
PhylomeDBiP31415
TreeFamiTF313796

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels
R-HSA-5578775 Ion homeostasis

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
844

Protein Ontology

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PROi
PR:P31415

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000143318 Expressed in 132 organ(s), highest expression level in quadriceps femoris
CleanExiHS_CASQ1
ExpressionAtlasiP31415 baseline and differential
GenevisibleiP31415 HS

Family and domain databases

InterProiView protein in InterPro
IPR001393 Calsequestrin
IPR018233 Calsequestrin_CS
IPR036249 Thioredoxin-like_sf
PANTHERiPTHR10033 PTHR10033, 1 hit
PfamiView protein in Pfam
PF01216 Calsequestrin, 1 hit
SUPFAMiSSF52833 SSF52833, 3 hits
PROSITEiView protein in PROSITE
PS00863 CALSEQUESTRIN_1, 1 hit
PS00864 CALSEQUESTRIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCASQ1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P31415
Secondary accession number(s): B1AKZ2, B2R863, Q8TBW7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 27, 2011
Last modified: December 5, 2018
This is version 163 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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