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P31415

- CASQ1_HUMAN

UniProt

P31415 - CASQ1_HUMAN

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Protein
Calsequestrin-1
Gene
CASQ1, CASQ
Organism
Homo sapiens (Human)
Status
Reviewed - 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. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca2+ ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca2+.

GO - Molecular functioni

  1. calcium ion binding Source: Ensembl
Complete GO annotation...

GO - Biological processi

  1. endoplasmic reticulum organization Source: Ensembl
  2. ion transmembrane transport Source: Reactome
  3. regulation of sequestering of calcium ion Source: Ensembl
  4. regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: Ensembl
  5. response to denervation involved in regulation of muscle adaptation Source: Ensembl
  6. response to heat Source: Ensembl
  7. response to organic substance Source: Ensembl
  8. skeletal muscle tissue development Source: Ensembl
  9. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Calsequestrin-1
Alternative name(s):
Calmitin
Calsequestrin, skeletal muscle isoform
Gene namesi
Name:CASQ1
Synonyms:CASQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:1512. CASQ1.

Subcellular locationi

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 1 Publication.

GO - Cellular componenti

  1. Golgi apparatus Source: Ensembl
  2. I band Source: Ensembl
  3. T-tubule Source: Ensembl
  4. endoplasmic reticulum Source: ProtInc
  5. mitochondrial matrix Source: ProtInc
  6. mitochondrion Source: UniProt
  7. sarcoplasmic reticulum membrane Source: Reactome
  8. smooth endoplasmic reticulum Source: ProtInc
  9. terminal cisterna lumen Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3434 Reviewed prediction
Add
BLAST
Chaini35 – 396362Calsequestrin-1
PRO_0000004212Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi350 – 3501N-linked (GlcNAc...) Reviewed prediction
Modified residuei387 – 3871Phosphothreonine By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP31415.
PRIDEiP31415.

PTM databases

PhosphoSiteiP31415.

Expressioni

Gene expression databases

ArrayExpressiP31415.
BgeeiP31415.
CleanExiHS_CASQ1.
GenevestigatoriP31415.

Organism-specific databases

HPAiCAB015170.
HPA007845.
HPA026823.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000357058.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi49 – 513
Turni54 – 563
Helixi57 – 637
Beta strandi65 – 728
Helixi79 – 9921
Helixi100 – 1023
Beta strandi104 – 1107
Turni111 – 1144
Helixi115 – 1217
Beta strandi125 – 1339
Beta strandi136 – 1394
Helixi146 – 15712
Beta strandi160 – 1634
Helixi167 – 1759
Beta strandi181 – 1855
Helixi192 – 20413
Turni205 – 2073
Beta strandi210 – 2134
Helixi216 – 2227
Beta strandi229 – 2324
Beta strandi243 – 2464
Helixi249 – 25810
Beta strandi263 – 2664
Helixi269 – 2713
Helixi272 – 2765
Beta strandi280 – 2889
Helixi294 – 30815
Beta strandi318 – 3214
Helixi323 – 3253
Helixi327 – 3293
Helixi330 – 3378
Beta strandi345 – 3506
Turni351 – 3544
Beta strandi355 – 3584
Helixi370 – 38213

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3UOMX-ray2.02A/B/C/D/E/F35-396[»]
ProteinModelPortaliP31415.
SMRiP31415. Positions 37-381.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi15 – 2511Poly-Leu
Add
BLAST
Compositional biasi353 – 39644Asp-rich
Add
BLAST

Sequence similaritiesi

Belongs to the calsequestrin family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG77804.
HOGENOMiHOG000049047.
HOVERGENiHBG050805.
InParanoidiP31415.
OMAiEVAEDNT.
OrthoDBiEOG725DHM.
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

MSATDRMGPR AVPGLRLALL LLLVLGTPKS GVQGQEGLDF PEYDGVDRVI    50
NVNAKNYKNV FKKYEVLALL YHEPPEDDKA SQRQFEMEEL ILELAAQVLE 100
DKGVGFGLVD SEKDAAVAKK LGLTEVDSMY VFKGDEVIEY DGEFSADTIV 150
EFLLDVLEDP VELIEGEREL QAFENIEDEI KLIGYFKSKD SEHYKAFEDA 200
AEEFHPYIPF FATFDSKVAK KLTLKLNEID FYEAFMEEPV TIPDKPNSEE 250
EIVNFVEEHR RSTLRKLKPE SMYETWEDDM DGIHIVAFAE EADPDGFEFL 300
ETLKAVAQDN TENPDLSIIW IDPDDFPLLV PYWEKTFDID LSAPQIGVVN 350
VTDADSVWME MDDEEDLPSA EELEDWLEDV LEGEINTEDD DDDDDD 396
Length:396
Mass (Da):45,160
Last modified:July 27, 2011 - v3
Checksum:iC20388AD8870E12D
GO

Sequence cautioni

The sequence AAB32063.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAH22289.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAG36060.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401Y → F.
Corresponds to variant rs34489853 [ dbSNP | Ensembl ].
VAR_053021

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti356 – 3572SV → RL in AAB32063. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000368079; ENSP00000357058; ENSG00000143318.
GeneIDi844.
KEGGihsa:844.
UCSCiuc010pja.2. human.

Polymorphism databases

DMDMi341940551.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Calsequestrin entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS1198.2.
PIRi A60424.
RefSeqi NP_001222.3. NM_001231.4.
UniGenei Hs.632476.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3UOM X-ray 2.02 A/B/C/D/E/F 35-396 [» ]
ProteinModelPortali P31415.
SMRi P31415. Positions 37-381.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000357058.

PTM databases

PhosphoSitei P31415.

Polymorphism databases

DMDMi 341940551.

Proteomic databases

PaxDbi P31415.
PRIDEi P31415.

Protocols and materials databases

DNASUi 844.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368078 ; ENSP00000357057 ; ENSG00000143318 .
ENST00000368079 ; ENSP00000357058 ; ENSG00000143318 .
GeneIDi 844.
KEGGi hsa:844.
UCSCi uc010pja.2. human.

Organism-specific databases

CTDi 844.
GeneCardsi GC01P160160.
HGNCi HGNC:1512. CASQ1.
HPAi CAB015170.
HPA007845.
HPA026823.
MIMi 114250. gene.
neXtProti NX_P31415.
PharmGKBi PA26095.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77804.
HOGENOMi HOG000049047.
HOVERGENi HBG050805.
InParanoidi P31415.
OMAi EVAEDNT.
OrthoDBi EOG725DHM.
PhylomeDBi P31415.
TreeFami TF313796.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GenomeRNAii 844.
NextBioi 3538.
PROi P31415.
SOURCEi Search...

Gene expression databases

ArrayExpressi P31415.
Bgeei P31415.
CleanExi HS_CASQ1.
Genevestigatori P31415.

Family and domain databases

Gene3Di 3.40.30.10. 3 hits.
InterProi IPR001393. Calsequestrin.
IPR018233. Calsequestrin_CS.
IPR012336. Thioredoxin-like_fold.
[Graphical view ]
Pfami PF01216. Calsequestrin. 1 hit.
[Graphical view ]
PRINTSi PR00312. CALSEQUESTRN.
SUPFAMi SSF52833. SSF52833. 3 hits.
PROSITEi PS00863. CALSEQUESTRIN_1. 1 hit.
PS00864. CALSEQUESTRIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene."
    Fujii J., Willard H.F., Maclennan D.H.
    Somat. Cell Mol. Genet. 16:185-189(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Molecular cloning of human calmitine, a mitochondrial calcium binding protein, reveals identity with calsequestrine."
    Bataille N., Schmitt N., Aumercier-Maes P., Ollivier B., Lucas-Heron B., Lestienne P.
    Biochem. Biophys. Res. Commun. 203:1477-1482(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
    Tissue: Skeletal muscle.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pericardium.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skeletal muscle.

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: September 3, 2014
This is version 129 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

External Data

Dasty 3

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