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P31415

- CASQ1_HUMAN

UniProt

P31415 - CASQ1_HUMAN

Protein

Calsequestrin-1

Gene

CASQ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 3 (27 Jul 2011)
      Previous versions | rss
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    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

    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

    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 PubMed:7945294.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Mitochondrion, Sarcoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26095.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3434Sequence AnalysisAdd
    BLAST
    Chaini35 – 396362Calsequestrin-1PRO_0000004212Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence Analysis
    Modified residuei387 – 3871PhosphothreonineBy 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

    1
    396
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi15 – 2511Poly-LeuAdd
    BLAST
    Compositional biasi353 – 39644Asp-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the calsequestrin family.Curated

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti356 – 3572SV → RL in AAB32063. (PubMed:7945294)Curated

    Natural variant

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

    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.
    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...
    MobiDBi 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 .
    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

    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: October 1, 2014
    This is version 130 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