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Protein

Junctional sarcoplasmic reticulum protein 1

Gene

JSRP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity.1 Publication

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Junctional sarcoplasmic reticulum protein 1
Alternative name(s):
Junctional-face membrane protein of 45 kDa homolog
Short name:
JP-45
Gene namesi
Name:JSRP1
Synonyms:JP45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24963. JSRP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485511.

Polymorphism and mutation databases

BioMutaiJSRP1.
DMDMi74732368.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 331331Junctional sarcoplasmic reticulum protein 1PRO_0000314025Add
BLAST

Proteomic databases

PaxDbiQ96MG2.
PRIDEiQ96MG2.

PTM databases

iPTMnetiQ96MG2.
PhosphoSiteiQ96MG2.

Expressioni

Gene expression databases

BgeeiQ96MG2.
CleanExiHS_JSRP1.
ExpressionAtlasiQ96MG2. baseline and differential.
GenevisibleiQ96MG2. HS.

Organism-specific databases

HPAiHPA044741.

Interactioni

Subunit structurei

Interacts with CACNA1S, CACNB1 and calsequestrin.By similarity

Protein-protein interaction databases

BioGridi125977. 8 interactions.
IntActiQ96MG2. 1 interaction.
STRINGi9606.ENSP00000300961.

Structurei

3D structure databases

ProteinModelPortaliQ96MG2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni3 – 7674Mediates interaction with CACNA1SBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi102 – 202101Pro-richAdd
BLAST
Compositional biasi224 – 330107Arg-richAdd
BLAST

Phylogenomic databases

eggNOGiENOG410J9EZ. Eukaryota.
ENOG4111EBH. LUCA.
GeneTreeiENSGT00390000012911.
HOGENOMiHOG000113137.
HOVERGENiHBG108014.
InParanoidiQ96MG2.
OMAiKFEAQAP.
OrthoDBiEOG7MWGZT.
PhylomeDBiQ96MG2.

Family and domain databases

InterProiIPR026178. JSRP1.
[Graphical view]
PANTHERiPTHR22397. PTHR22397. 1 hit.
PfamiPF15312. JSRP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96MG2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSMTTRAWEE LDGGLGSCQA LEDHSALAET QEDRASATPR LADSGSVPHD
60 70 80 90 100
SQVAEGPSVD TRPKKMEKEP AARGTPGTGK ERLKAGASPR SVPARKKAQT
110 120 130 140 150
APPLQPPPPP PALSEELPWG DLSLNKCLVL ASLVALLGSA FQLCRDAVPG
160 170 180 190 200
EAALQARVPE PWVPPSSAPR EPSSPLPKFE AQAPPSAPPA PRAEAEVRPK
210 220 230 240 250
IPGSREAAEN DEEEPGEATG EAVREDRVTL ADRGPKERPR REGKPRKEKP
260 270 280 290 300
RKEERPKKER PRKEERPRAA REPREALPQR WESREGGHRP WARDSRDAEP
310 320 330
RKKQAWVSPR RPDEEQRPGS RQKLRAGKGR D
Length:331
Mass (Da):36,319
Last modified:December 1, 2001 - v1
Checksum:iBAB121BBB38EFB31
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti92 – 921V → A.
Corresponds to variant rs10426549 [ dbSNP | Ensembl ].
VAR_037838
Natural varianti108 – 1081P → L Polymorphism affecting excitation/contraction coupling in muscle fibers; the sensitivity of CACNA1S voltage sensor is shifted to higher depolarizing voltages in cells carrying this variant. 1 Publication
Corresponds to variant rs74521370 [ dbSNP | Ensembl ].
VAR_069019
Natural varianti150 – 1501G → A Polymorphism affecting excitation/contraction coupling in muscle fibers; the sensitivity of CACNA1S voltage sensor is shifted to higher depolarizing voltages in cells carrying this variant. 1 Publication
Corresponds to variant rs80043033 [ dbSNP | Ensembl ].
VAR_069020
Natural varianti233 – 2331R → Q.
Corresponds to variant rs35356610 [ dbSNP | Ensembl ].
VAR_037839

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056978 mRNA. Translation: BAB71330.1.
BC021201 mRNA. Translation: AAH21201.1.
CCDSiCCDS12086.1.
RefSeqiNP_653217.1. NM_144616.3.
UniGeneiHs.330742.

Genome annotation databases

EnsembliENST00000300961; ENSP00000300961; ENSG00000167476.
GeneIDi126306.
KEGGihsa:126306.
UCSCiuc002lvj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056978 mRNA. Translation: BAB71330.1.
BC021201 mRNA. Translation: AAH21201.1.
CCDSiCCDS12086.1.
RefSeqiNP_653217.1. NM_144616.3.
UniGeneiHs.330742.

3D structure databases

ProteinModelPortaliQ96MG2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125977. 8 interactions.
IntActiQ96MG2. 1 interaction.
STRINGi9606.ENSP00000300961.

PTM databases

iPTMnetiQ96MG2.
PhosphoSiteiQ96MG2.

Polymorphism and mutation databases

BioMutaiJSRP1.
DMDMi74732368.

Proteomic databases

PaxDbiQ96MG2.
PRIDEiQ96MG2.

Protocols and materials databases

DNASUi126306.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300961; ENSP00000300961; ENSG00000167476.
GeneIDi126306.
KEGGihsa:126306.
UCSCiuc002lvj.3. human.

Organism-specific databases

CTDi126306.
GeneCardsiJSRP1.
HGNCiHGNC:24963. JSRP1.
HPAiHPA044741.
MIMi608743. gene.
neXtProtiNX_Q96MG2.
PharmGKBiPA143485511.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J9EZ. Eukaryota.
ENOG4111EBH. LUCA.
GeneTreeiENSGT00390000012911.
HOGENOMiHOG000113137.
HOVERGENiHBG108014.
InParanoidiQ96MG2.
OMAiKFEAQAP.
OrthoDBiEOG7MWGZT.
PhylomeDBiQ96MG2.

Miscellaneous databases

GenomeRNAii126306.
PROiQ96MG2.
SOURCEiSearch...

Gene expression databases

BgeeiQ96MG2.
CleanExiHS_JSRP1.
ExpressionAtlasiQ96MG2. baseline and differential.
GenevisibleiQ96MG2. HS.

Family and domain databases

InterProiIPR026178. JSRP1.
[Graphical view]
PANTHERiPTHR22397. PTHR22397. 1 hit.
PfamiPF15312. JSRP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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: Skeletal muscle.
  2. "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: Muscle.
  3. "JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor."
    Yasuda T., Delbono O., Wang Z.M., Messi M.L., Girard T., Urwyler A., Treves S., Zorzato F.
    Hum. Mutat. 34:184-190(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANTS LEU-108 AND ALA-150, CHARACTERIZATION OF VARIANTS LEU-108 AND ALA-150.

Entry informationi

Entry nameiJSPR1_HUMAN
AccessioniPrimary (citable) accession number: Q96MG2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 106 of the entry and version 1 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

Caution

It is uncertain whether Met-1 or Met-3 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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.