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Aliases for JSRP1 Gene

Aliases for JSRP1 Gene

  • Junctional Sarcoplasmic Reticulum Protein 1 2 3 5
  • Homolog Of Mouse Skeletal Muscle Sarcoplasmic Reticulum Protein JP-45 2 3
  • Junctional-Face Membrane Protein Of 45 KDa Homolog 3 4
  • JP-45 3 4
  • JP45 3 4
  • Skeletal Muscle Sarcoplasmic Reticulum Protein JP-45 3
  • 2310032K21Rik 3

External Ids for JSRP1 Gene

Previous GeneCards Identifiers for JSRP1 Gene

  • GC19M002204
  • GC19M002205
  • GC19M002025

Summaries for JSRP1 Gene

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.

UniProtKB/Swiss-Prot for JSRP1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JSRP1 Gene

Genomics for JSRP1 Gene

Regulatory Elements for JSRP1 Gene

Promoters for JSRP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JSRP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for JSRP1 Gene

Chromosome:
19
Start:
2,252,251 bp from pter
End:
2,269,759 bp from pter
Size:
17,509 bases
Orientation:
Minus strand

Genomic View for JSRP1 Gene

Genes around JSRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JSRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JSRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JSRP1 Gene

Proteins for JSRP1 Gene

  • Protein details for JSRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MG2-JSPR1_HUMAN
    Recommended name:
    Junctional sarcoplasmic reticulum protein 1
    Protein Accession:
    Q96MG2

    Protein attributes for JSRP1 Gene

    Size:
    331 amino acids
    Molecular mass:
    36319 Da
    Quaternary structure:
    • Interacts with CACNA1S, CACNB1 and calsequestrin.

neXtProt entry for JSRP1 Gene

Proteomics data for JSRP1 Gene at MOPED

Post-translational modifications for JSRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JSRP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for JSRP1 Gene

Domains & Families for JSRP1 Gene

Protein Domains for JSRP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JSRP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with JSRP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for JSRP1 Gene

Function for JSRP1 Gene

Molecular function for JSRP1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with JSRP1: view

Animal Models for JSRP1 Gene

MGI Knock Outs for JSRP1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for JSRP1 Gene

Localization for JSRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JSRP1 Gene

Sarcoplasmic reticulum membrane. Endoplasmic reticulum membrane. Note=Colocalizes with ryanodine receptors at the sarcoplasmic reticulum triad membranes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JSRP1 Gene COMPARTMENTS Subcellular localization image for JSRP1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
cytosol 2
peroxisome 2
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for JSRP1 Gene

Pathways & Interactions for JSRP1 Gene

SuperPathways for JSRP1 Gene

No Data Available

Interacting Proteins for JSRP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000300961%0d%0a9606.ENSP00000276603%0d%0a
Selected Interacting proteins: ENSP00000300961 for JSRP1 Gene via STRING

Symbol External ID(s) Details
TERF1

Gene Ontology (GO) - Biological Process for JSRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 22927026
genes like me logo Genes that share ontologies with JSRP1: view

No data available for Pathways by source and SIGNOR curated interactions for JSRP1 Gene

Drugs & Compounds for JSRP1 Gene

(1) Drugs for JSRP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with JSRP1: view

Transcripts for JSRP1 Gene

mRNA/cDNA for JSRP1 Gene

Unigene Clusters for JSRP1 Gene

Junctional sarcoplasmic reticulum protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for JSRP1 Gene

No ASD Table

Relevant External Links for JSRP1 Gene

GeneLoc Exon Structure for
JSRP1
ECgene alternative splicing isoforms for
JSRP1

Expression for JSRP1 Gene

mRNA expression in normal human tissues for JSRP1 Gene

mRNA differential expression in normal tissues according to GTEx for JSRP1 Gene

This gene is overexpressed in Muscle - Skeletal (x45.5).

Protein differential expression in normal tissues from HIPED for JSRP1 Gene

This gene is overexpressed in Ovary (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for JSRP1 Gene



SOURCE GeneReport for Unigene cluster for JSRP1 Gene Hs.330742

genes like me logo Genes that share expression patterns with JSRP1: view

Protein tissue co-expression partners for JSRP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for JSRP1 Gene

Orthologs for JSRP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for JSRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JSRP1 35
  • 99.23 (n)
  • 98.84 (a)
JSRP1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JSRP1 36
  • 66 (a)
OneToOne
JSRP1 35
  • 77.5 (n)
  • 68.73 (a)
mouse
(Mus musculus)
Mammalia Jsrp1 35
  • 69.76 (n)
  • 56.73 (a)
Jsrp1 36
  • 52 (a)
OneToOne
Jsrp1 16
rat
(Rattus norvegicus)
Mammalia Jsrp1 35
  • 68.14 (n)
  • 56.15 (a)
Species with no ortholog for JSRP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for JSRP1 Gene

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

Paralogs for JSRP1 Gene

No data available for Paralogs for JSRP1 Gene

Variants for JSRP1 Gene

Sequence variations from dbSNP and Humsavar for JSRP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10426549 - 2,253,781(+) CGGGG(A/G)CGCTC reference, missense
rs35356610 - 2,252,627(-) AGACC(A/G)GGGAC reference, missense
rs74521370 - 2,253,733(+) GCGGC(A/G)GCGGC reference, missense
rs80043033 - 2,252,991(+) CCTCC(C/G)CAGGG reference, missense
rs3746158 -- 2,253,591(-) GGGGC(A/G)AGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JSRP1 Gene

Variant ID Type Subtype PubMed ID
nsv910499 CNV Loss 21882294
dgv3614n71 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
dgv3626n71 CNV Loss 21882294
nsv910623 CNV Loss 21882294
dgv3629n71 CNV Loss 21882294
dgv3630n71 CNV Loss 21882294
dgv3631n71 CNV Loss 21882294
nsv833707 CNV Loss 17160897
nsv910636 CNV Loss 21882294
dgv3632n71 CNV Loss 21882294
dgv3633n71 CNV Loss 21882294
dgv3634n71 CNV Loss 21882294
nsv910643 CNV Loss 21882294

Variation tolerance for JSRP1 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.56; 91.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JSRP1 Gene

HapMap Linkage Disequilibrium report
JSRP1
Human Gene Mutation Database (HGMD)
JSRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JSRP1 Gene

Disorders for JSRP1 Gene

Relevant External Links for JSRP1

Genetic Association Database (GAD)
JSRP1
Human Genome Epidemiology (HuGE) Navigator
JSRP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JSRP1

No disorders were found for JSRP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JSRP1 Gene

Publications for JSRP1 Gene

  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. (PMID: 12871958) Anderson A.A. … Zorzato F. (J. Biol. Chem. 2003) 2 3 23 67
  2. A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. (PMID: 16423849) Gouadon E. … Melzer W. (J. Physiol. (Lond.) 2006) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. (PMID: 22927026) Yasuda T. … Zorzato F. (Hum. Mutat. 2013) 3
  5. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PMID: 21044950) Lee O.H. … Songyang Z. (Mol. Cell Proteomics 2011) 3

Products for JSRP1 Gene

Sources for JSRP1 Gene

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