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JSRP1 Gene

protein-coding   GIFtS: 47
GCID: GC19M002252

Junctional Sarcoplasmic Reticulum Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Junctional Sarcoplasmic Reticulum Protein 11 2     JP-452 3
JP452 3 5     2310032K21Rik2
Homolog Of Mouse Skeletal Muscle Sarcoplasmic Reticulum Protein JP-451 2     Skeletal Muscle Sarcoplasmic Reticulum Protein JP-452
Junctional-Face Membrane Protein Of 45 KDa Homolog2 3     

External Ids:    HGNC: 249631   Entrez Gene: 1263062   Ensembl: ENSG000001674767   OMIM: 6087435   UniProtKB: Q96MG23   

Export aliases for JSRP1 gene to outside databases

Previous GC identifers: GC19M002204 GC19M002205 GC19M002025


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JSRP1 Gene:
The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The
encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux
in skeletal muscle. (provided by RefSeq, Jul 2012)

GeneCards Summary for JSRP1 Gene:
JSRP1 (junctional sarcoplasmic reticulum protein 1) is a protein-coding gene. Diseases associated with JSRP1 include malignant hyperthermia, and graves' disease.

UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2
Function: 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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the JSRP1 gene promoter:
         Spz1   SREBP-1a   p53   SREBP-1c   MyoD   STAT5A   Zic3   SREBP-1b   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJSRP1 promoter sequence
   Search Chromatin IP Primers for JSRP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JSRP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

JSRP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JSRP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M002252:  view genomic region     (about GC identifiers)

Start:
2,252,250 bp from pter      End:
2,269,758 bp from pter
Size:
17,509 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2 (See protein sequence)
Recommended Name: Junctional sarcoplasmic reticulum protein 1  
Size: 331 amino acids; 36319 Da
Subunit: Interacts with CACNA1S, CACNB1 and calsequestrin (By similarity)
Caution: It is uncertain whether Met-1 or Met-3 is the initiator

Explore the universe of human proteins at neXtProt for JSRP1: NX_Q96MG2

Explore proteomics data for JSRP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JSRP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_653217.1  
    ENSEMBL proteins: 
     ENSP00000300961   ENSP00000468418   ENSP00000465604  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026178 JSRP1

    Graphical View of Domain Structure for InterPro Entry Q96MG2

    ProtoNet protein and cluster: Q96MG2


    JSRP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JSPR1_HUMAN, Q96MG2
    Function: 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    JSRP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jsrp1):
     behavior/neurological  homeostasis/metabolism  muscle 

    JSRP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Jsrp1tm1Zor for JSRP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JSRP1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JSPR1_HUMAN, Q96MG2: Sarcoplasmic reticulum membrane (By similarity). Endoplasmic reticulum membrane (By
    similarity). Note=Colocalizes with ryanodine receptors at the sarcoplasmic reticulum triad membranes (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    endoplasmic reticulum2
    peroxisome2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016529sarcoplasmic reticulum ----
    GO:0033017sarcoplasmic reticulum membrane IEA--

    JSRP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JSRP1
    Interactions:

        Search GeneGlobe Interaction Network for JSRP1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for JSRP1 (ENSP000003009614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1ENSP000002766034STRING: ENSP00000276603
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IDA--
    GO:0060314regulation of ryanodine-sensitive calcium-release channel activity IEA--
    GO:0072657protein localization to membrane IEA--

    JSRP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JSRP1 (JSPR1)

    1 HMDB Compound for JSRP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for JSRP1 gene: 
    NM_144616.3  

    Unigene Cluster for JSRP1:

    Junctional sarcoplasmic reticulum protein 1
    Hs.330742  [show with all ESTs]
    Unigene Representative Sequence: BM464867
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300961(uc002lvj.2) ENST00000586471 ENST00000593238 ENST00000590976

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      QuantiTect SYBR Green Assays in human, mouse, rat JSRP1
      QuantiFast Probe-based Assays in human, mouse, rat JSRP1

    Additional mRNA sequence: 

    AK056978.1 BC021201.2 

    21 DOTS entries:

    DT.91753476  DT.97774110  DT.100881247  DT.100881250  DT.101958942  DT.121414371  DT.100039595  DT.454368 
    DT.91999328  DT.91999868  DT.95338347  DT.97793139  DT.100881245  DT.101985580  DT.121414420  DT.121414664 
    DT.100881253  DT.100881254  DT.121414845  DT.95338331  DT.95338340 

    Selected AceView cDNA sequences (see all 25):

    BC021201 AK056978 AW137573 BQ685035 BE746917 AA688087 BI827484 AI825241 
    BE743731 F27540 BM474204 NM_144616 BE503611 AW000792 BF204446 F34204 
    AI805145 BG827814 AA628755 BG827699 F35910 BF306204 AA523549 AI298723 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JSRP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAACCAGAG
    JSRP1 Expression
    About this image

    JSRP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JSRP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.330742
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for JSRP1 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jsrp11 , 5 junctional sarcoplasmic reticulum protein 11, 5 69.76(n)1
    56.73(a)1
      10 (39.72 cM)5
    719121  NM_028001.31  NP_082277.21 
     808084985 


    ENSEMBL Gene Tree for JSRP1 (if available)
    TreeFam Gene Tree for JSRP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JSRP1 (see all 181)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104176281,2
    C,F,H--2178800(+) GCAGGC/TCCGTG 1 -- ds500111Minor allele frequency- T:0.02NA CSA WA EA EU 3924
    rs1445134241,2
    C--2178808(+) GTGGGG/ACCGCC 1 -- ds50011Minor allele frequency- A:0.00NA 2548
    rs2000311511,2
    C--2178812(+) GGCCGC/TCCTGG 1 -- ds50010--------
    rs1497023091,2
    C--2178819(+) CTGGCG/TCGCCC 1 -- ds50010--------
    rs1454427471,2
    --2179033(+) CCCCAA/GTAAAG 1 -- ds50010--------
    rs2001633731,2
    --2179297(+) ACTCCC/GGCGCG 1 -- ut310--------
    rs778178181,2
    C--2179443(+) GGCCGA/GTGGCC 2 H syn10--------
    rs2014097981,2
    --2179482(+) AGGGCC/TTCCCG 2 E syn10--------
    rs1505778171,2
    C,F--2179508(+) CCGTGG/ACCTCT 2 /P /S mis11Minor allele frequency- A:0.00NA 4184
    rs2004868291,2
    --2179514(+) CCTCTA/CCTCTT 2 E * stg10--------

    HapMap Linkage Disequilibrium report for JSRP1 (2252250 - 2269758 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for JSRP1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3634n71CNV Loss21882294
    dgv3631n71CNV Loss21882294
    dgv3630n71CNV Loss21882294
    dgv3614n71CNV Loss21882294
    dgv3629n71CNV Loss21882294
    nsv910499CNV Loss21882294
    dgv3632n71CNV Loss21882294
    dgv3626n71CNV Loss21882294
    dgv3622n71CNV Loss21882294
    nsv910643CNV Loss21882294

    Human Gene Mutation Database (HGMD): JSRP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JSRP1
    DNA2.0 Custom Variant and Variant Library Synthesis for JSRP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608743    OMIM disorders: --

    2 diseases for JSRP1:    
    About MalaCards
    malignant hyperthermia    graves' disease

    1 disease from the University of Copenhagen DISEASES database for JSRP1:
    Malignant hyperthermia

    JSRP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): JSRP1
    Human Genome Epidemiology (HuGE) Navigator: JSRP1 (1 document)

    Export disorders for JSRP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JSRP1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with JSRP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel. (PubMed id 12871958)1, 3, 9 Anderson A.A....Zorzato F. (J. Biol. Chem. 2003)
    2. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. (PubMed id 22927026)1, 2 Yasuda T.... Zorzato F. (Hum. Mutat. 2013)
    3. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PubMed id 20442750)1, 4 Newby P.R....Gough S.C. (Eur. J. Hum. Genet. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. (PubMed id 16423849)1, 9 Gouadon E....Melzer W. (J. Physiol. (Lond.) 2006)
    6. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (amp 2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. (PubMed id 18077436)9 Delbono O....Zorzato F. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 126306 HGNC: 24963 AceView: FLJ32416 Ensembl:ENSG00000167476 euGenes: HUgn126306
    ECgene: JSRP1 H-InvDB: JSRP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JSRP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JSRP1 gene:
    Search GeneIP for patents involving JSRP1

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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