P31415 (CASQ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Calsequestrin-1

Alternative name(s):
Calmitin
Calsequestrin, skeletal muscle isoform

Gene names

Name:	CASQ1
Synonyms:	CASQ

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	396 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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 CASQ1) binds around 80 Ca2+ ions, while the cardiac CASQ2) binds approximately 60 Ca2+.
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 Ref.2.
Sequence similarities	Belongs to the calsequestrin family.
Sequence caution	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.

Ontologies

Keywords
Cellular component	Mitochondrion Sarcoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
Ligand	Calcium
Molecular function	Muscle protein
PTM	Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	endoplasmic reticulum organization Inferred from electronic annotation. Source: Compara regulation of sequestering of calcium ion Inferred from electronic annotation. Source: Compara regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Inferred from electronic annotation. Source: Compara response to denervation involved in regulation of muscle adaptation Inferred from electronic annotation. Source: Compara response to heat Inferred from electronic annotation. Source: Compara response to organic substance Inferred from electronic annotation. Source: Compara skeletal muscle tissue development Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: Compara I band Inferred from electronic annotation. Source: Compara T-tubule Inferred from electronic annotation. Source: Compara mitochondrial matrix Traceable author statement Ref.2. Source: ProtInc smooth endoplasmic reticulum Traceable author statement Ref.2. Source: ProtInc terminal cisterna lumen Inferred from electronic annotation. Source: Compara
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 34

34

Potential

Chain

35 – 396

362

Calsequestrin-1

PRO_0000004212

Regions

Compositional bias

15 – 25

11

Poly-Leu

Compositional bias

353 – 396

44

Asp-rich

Amino acid modifications

Modified residue

387

1

Phosphothreonine By similarity

Glycosylation

350

1

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

140

1

Y → F.
Corresponds to variant rs34489853 [ dbSNP | Ensembl ].

VAR_053021

Experimental info

Sequence conflict

356 – 357

2

SV → RL in AAB32063. Ref.2

Secondary structure

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396

Helix Strand Turn

Details...

Beta strand

49 – 51

3

Turn

54 – 56

3

Helix

57 – 63

7

Beta strand

65 – 72

8

Helix

79 – 99

21

Helix

100 – 102

3

Beta strand

104 – 110

7

Turn

111 – 114

4

Helix

115 – 121

7

Beta strand

125 – 133

9

Beta strand

136 – 139

4

Helix

146 – 157

12

Beta strand

160 – 163

4

Helix

167 – 175

9

Beta strand

181 – 185

5

Helix

192 – 204

13

Turn

205 – 207

3

Beta strand

210 – 213

4

Helix

216 – 222

7

Beta strand

229 – 232

4

Beta strand

243 – 246

4

Helix

249 – 258

10

Beta strand

263 – 266

4

Helix

269 – 271

3

Helix

272 – 276

5

Beta strand

280 – 288

9

Helix

294 – 308

15

Beta strand

318 – 321

4

Helix

323 – 325

3

Helix

327 – 329

3

Helix

330 – 337

8

Beta strand

345 – 350

6

Turn

351 – 354

4

Beta strand

355 – 358

4

Helix

370 – 382

13

Sequences

	Sequence		Length	Mass (Da)
	P31415 [UniParc]. Last modified July 27, 2011. Version 3. Checksum: C20388AD8870E12D	FASTA	396	45,160
	10 20 30 40 50 60 MSATDRMGPR AVPGLRLALL LLLVLGTPKS GVQGQEGLDF PEYDGVDRVI NVNAKNYKNV 70 80 90 100 110 120 FKKYEVLALL YHEPPEDDKA SQRQFEMEEL ILELAAQVLE DKGVGFGLVD SEKDAAVAKK 130 140 150 160 170 180 LGLTEVDSMY VFKGDEVIEY DGEFSADTIV EFLLDVLEDP VELIEGEREL QAFENIEDEI 190 200 210 220 230 240 KLIGYFKSKD SEHYKAFEDA AEEFHPYIPF FATFDSKVAK KLTLKLNEID FYEAFMEEPV 250 260 270 280 290 300 TIPDKPNSEE EIVNFVEEHR RSTLRKLKPE SMYETWEDDM DGIHIVAFAE EADPDGFEFL 310 320 330 340 350 360 ETLKAVAQDN TENPDLSIIW IDPDDFPLLV PYWEKTFDID LSAPQIGVVN VTDADSVWME 370 380 390 MDDEEDLPSA EELEDWLEDV LEGEINTEDD DDDDDD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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.
+	Additional computationally mapped references.

Web resources

Wikipedia

Calsequestrin entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00843888.

PIR

A60424.

RefSeq

NP_001222.3. NM_001231.4.

UniGene

Hs.632476.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3UOM	X-ray	2.02	A/B/C/D/E/F	35-396	[»]

ProteinModelPortal

P31415.

SMR

P31415. Positions 37-388.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000357058.

PTM databases

PhosphoSite

P31415.

Polymorphism databases

DMDM

23503047.

Proteomic databases

PaxDb

P31415.

PRIDE

P31415.

Protocols and materials databases

DNASU

844.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000368078; ENSP00000357057; ENSG00000143318.
ENST00000368079; ENSP00000357058; ENSG00000143318.

GeneID

844.

KEGG

hsa:844.

UCSC

uc010pja.2. human.

Organism-specific databases

CTD

844.

GeneCards

GC01P160160.

HGNC

HGNC:1512. CASQ1.

HPA

CAB015170.
HPA007845.
HPA026823.

MIM

114250. gene.

neXtProt

NX_P31415.

PharmGKB

PA26095.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG77804.

HOGENOM

HOG000049047.

HOVERGEN

HBG050805.

InParanoid

P31415.

OMA

DTIVEFL.

OrthoDB

EOG4W0XD8.

Gene expression databases

ArrayExpress

P31415.

Bgee

P31415.

CleanEx

HS_CASQ1.

Genevestigator

P31415.

GermOnline

ENSG00000143318. Homo sapiens.

Family and domain databases

Gene3D

3.40.30.10. 3 hits.

InterPro

IPR001393. Calsequestrin.
IPR018233. Calsequestrin_CS.
IPR012336. Thioredoxin-like_fold.
[Graphical view]

PANTHER

PTHR10033. PTHR10033. 1 hit.

Pfam

PF01216. Calsequestrin. 1 hit.
[Graphical view]

PRINTS

PR00312. CALSEQUESTRN.

SUPFAM

SSF52833. Thiordxn-like_fd. 3 hits.

PROSITE

PS00863. CALSEQUESTRIN_1. 1 hit.
PS00864. CALSEQUESTRIN_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

844.

NextBio

3538.

SOURCE

Search...

Entry information

Entry name

CASQ1_HUMAN

Accession

Primary (citable) accession number: P31415
Secondary accession number(s): B1AKZ2, B2R863, Q8TBW7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 27, 2011
Last modified:	April 3, 2013
This is version 118 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.