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Protein

Calsequestrin-1

Gene

CASQ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. 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. Regulates the release of lumenal Ca2+ via the calcium release channel RYR1; this plays an important role in triggering muscle contraction.1 Publication1 Publication

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143318-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.

Names & Taxonomyi

Protein namesi
Recommended name:
Calsequestrin-1
Alternative name(s):
Calmitine1 Publication
Calsequestrin, skeletal muscle isoform
Gene namesi
Name:CASQ1
Synonyms:CASQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:1512. CASQ1.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: ProtInc
  • Golgi apparatus Source: Ensembl
  • I band Source: Ensembl
  • mitochondrial matrix Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • sarcoplasmic reticulum Source: UniProtKB
  • sarcoplasmic reticulum lumen Source: UniProtKB
  • sarcoplasmic reticulum membrane Source: Reactome
  • smooth endoplasmic reticulum Source: ProtInc
  • terminal cisterna lumen Source: Ensembl
  • T-tubule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Myopathy, vacuolar, with CASQ1 aggregates (VMCQA)2 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
Natural variantiVAR_073337244D → G in VMCQA; causes impaired polymerization of the protein; no effect on subcellular location; reduces sarcoplasmic reticulum calcium release during excitation-contraction coupling. 2 PublicationsCorresponds to variant rs730882052dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi844.
MalaCardsiCASQ1.
MIMi616231. phenotype.
OpenTargetsiENSG00000143318.
Orphaneti88635. Myopathy due to calsequestrin and SERCA1 protein overload.
PharmGKBiPA26095.

Polymorphism and mutation databases

BioMutaiCASQ1.
DMDMi341940551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 34Sequence analysisAdd BLAST34
ChainiPRO_000000421235 – 396Calsequestrin-1Add BLAST362

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei43PhosphotyrosineBy similarity1
Modified residuei81PhosphoserineBy similarity1
Modified residuei124PhosphothreonineBy similarity1
Modified residuei216PhosphoserineBy similarity1
Glycosylationi350N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP31415.
PaxDbiP31415.
PeptideAtlasiP31415.
PRIDEiP31415.

PTM databases

iPTMnetiP31415.
PhosphoSitePlusiP31415.

Expressioni

Tissue specificityi

Expressed in myoblasts (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000143318.
CleanExiHS_CASQ1.
ExpressionAtlasiP31415. baseline and differential.
GenevisibleiP31415. HS.

Organism-specific databases

HPAiCAB015170.
HPA007845.
HPA026823.

Interactioni

Subunit structurei

Interacts with ASPH and TRDN (By similarity). Monomer, homodimer, homotetramer and homopolymer. Can form linear homooligomers. Ca2+ ions promote oligomerization.By similarity1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000357057.

Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi49 – 51Combined sources3
Turni54 – 56Combined sources3
Helixi57 – 63Combined sources7
Beta strandi65 – 72Combined sources8
Helixi79 – 98Combined sources20
Turni99 – 103Combined sources5
Beta strandi104 – 110Combined sources7
Turni111 – 114Combined sources4
Helixi115 – 121Combined sources7
Beta strandi129 – 133Combined sources5
Beta strandi136 – 140Combined sources5
Helixi146 – 157Combined sources12
Beta strandi160 – 163Combined sources4
Helixi167 – 175Combined sources9
Beta strandi181 – 185Combined sources5
Beta strandi189 – 191Combined sources3
Helixi192 – 204Combined sources13
Turni205 – 207Combined sources3
Beta strandi210 – 213Combined sources4
Helixi216 – 222Combined sources7
Beta strandi229 – 232Combined sources4
Beta strandi243 – 246Combined sources4
Helixi249 – 258Combined sources10
Beta strandi263 – 266Combined sources4
Helixi269 – 271Combined sources3
Helixi272 – 276Combined sources5
Beta strandi283 – 288Combined sources6
Beta strandi291 – 293Combined sources3
Helixi294 – 309Combined sources16
Turni310 – 312Combined sources3
Beta strandi318 – 321Combined sources4
Helixi323 – 325Combined sources3
Helixi327 – 329Combined sources3
Helixi330 – 337Combined sources8
Beta strandi341 – 343Combined sources3
Beta strandi345 – 350Combined sources6
Turni351 – 353Combined sources3
Beta strandi356 – 358Combined sources3
Beta strandi363 – 365Combined sources3
Helixi370 – 381Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi15 – 25Poly-LeuAdd BLAST11
Compositional biasi353 – 396Asp-richAdd BLAST44

Sequence similaritiesi

Belongs to the calsequestrin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IGY5. Eukaryota.
ENOG4111R2M. LUCA.
GeneTreeiENSGT00390000019377.
HOGENOMiHOG000049047.
HOVERGENiHBG050805.
InParanoidiP31415.
OMAiVYVFKGD.
OrthoDBiEOG091G08VX.
PhylomeDBiP31415.
TreeFamiTF313796.

Family and domain databases

Gene3Di3.40.30.10. 3 hits.
InterProiIPR001393. Calsequestrin.
IPR018233. Calsequestrin_CS.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF01216. Calsequestrin. 1 hit.
[Graphical view]
PRINTSiPR00312. CALSEQUESTRN.
SUPFAMiSSF52833. SSF52833. 3 hits.
PROSITEiPS00863. CALSEQUESTRIN_1. 1 hit.
PS00864. CALSEQUESTRIN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:iC20388AD8870E12D
GO

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
Sequence conflicti356 – 357SV → RL in AAB32063 (PubMed:7945294).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053021140Y → F.Corresponds to variant rs34489853dbSNPEnsembl.1
Natural variantiVAR_073337244D → G in VMCQA; causes impaired polymerization of the protein; no effect on subcellular location; reduces sarcoplasmic reticulum calcium release during excitation-contraction coupling. 2 PublicationsCorresponds to variant rs730882052dbSNPEnsembl.1

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. Translation: CAI15276.1.
CH471121 Genomic DNA. Translation: EAW52736.1.
BC022289 mRNA. Translation: AAH22289.1. Different initiation.
CCDSiCCDS1198.2.
PIRiA60424.
RefSeqiNP_001222.3. NM_001231.4.
UniGeneiHs.632476.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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. Translation: CAI15276.1.
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:
PDBei
RCSB PDBi
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

STRINGi9606.ENSP00000357057.

PTM databases

iPTMnetiP31415.
PhosphoSitePlusiP31415.

Polymorphism and mutation databases

BioMutaiCASQ1.
DMDMi341940551.

Proteomic databases

MaxQBiP31415.
PaxDbiP31415.
PeptideAtlasiP31415.
PRIDEiP31415.

Protocols and materials databases

DNASUi844.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi844.
DisGeNETi844.
GeneCardsiCASQ1.
HGNCiHGNC:1512. CASQ1.
HPAiCAB015170.
HPA007845.
HPA026823.
MalaCardsiCASQ1.
MIMi114250. gene.
616231. phenotype.
neXtProtiNX_P31415.
OpenTargetsiENSG00000143318.
Orphaneti88635. Myopathy due to calsequestrin and SERCA1 protein overload.
PharmGKBiPA26095.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGY5. Eukaryota.
ENOG4111R2M. LUCA.
GeneTreeiENSGT00390000019377.
HOGENOMiHOG000049047.
HOVERGENiHBG050805.
InParanoidiP31415.
OMAiVYVFKGD.
OrthoDBiEOG091G08VX.
PhylomeDBiP31415.
TreeFamiTF313796.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000143318-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.

Miscellaneous databases

GenomeRNAii844.
PROiP31415.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143318.
CleanExiHS_CASQ1.
ExpressionAtlasiP31415. baseline and differential.
GenevisibleiP31415. HS.

Family and domain databases

Gene3Di3.40.30.10. 3 hits.
InterProiIPR001393. Calsequestrin.
IPR018233. Calsequestrin_CS.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF01216. Calsequestrin. 1 hit.
[Graphical view]
PRINTSiPR00312. CALSEQUESTRN.
SUPFAMiSSF52833. SSF52833. 3 hits.
PROSITEiPS00863. CALSEQUESTRIN_1. 1 hit.
PS00864. CALSEQUESTRIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCASQ1_HUMAN
AccessioniPrimary (citable) accession number: P31415
Secondary accession number(s): B1AKZ2, B2R863, Q8TBW7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 27, 2011
Last modified: November 2, 2016
This is version 149 of the entry and version 3 of the sequence. [Complete history]
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.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.