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] See more...

Aliases for JSRP1 Gene

Aliases for JSRP1 Gene

  • Junctional Sarcoplasmic Reticulum Protein 1 2 3 4 5
  • JP-45 2 3 4
  • Homolog Of Mouse Skeletal Muscle Sarcoplasmic Reticulum Protein JP-45 2 3
  • Junctional-Face Membrane Protein Of 45 KDa Homolog 3 4
  • JP45 3 4
  • Skeletal Muscle Sarcoplasmic Reticulum Protein JP-45 3
  • 2310032K21Rik 3
  • FLJ32416 2
  • JSRP1 5

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. Diseases associated with JSRP1 include Atrophic Muscular Disease and Myopathy, Tubular Aggregate, 1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JSRP1 Gene

Genomics for JSRP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for JSRP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JSRP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JSRP1

Top Transcription factor binding sites by QIAGEN in the JSRP1 gene promoter:
  • GATA-1
  • MyoD
  • p53
  • Spz1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5A
  • Zic3

Genomic Locations for JSRP1 Gene

Genomic Locations for JSRP1 Gene
chr19:2,252,252-2,269,759
(GRCh38/hg38)
Size:
17,508 bases
Orientation:
Minus strand
chr19:2,252,250-2,269,758
(GRCh37/hg19)
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

Post-translational modifications for JSRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JSRP1 Gene

No data available for DME Specific Peptides for JSRP1 Gene

Domains & Families for JSRP1 Gene

Gene Families for JSRP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for JSRP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JSRP1 Gene

GenScript: Design optimal peptide antigens:
  • Junctional-face membrane protein of 45 kDa homolog (JSPR1_HUMAN)
genes like me logo Genes that share domains with JSRP1: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for JSRP1 Gene

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

Animal Models for JSRP1 Gene

MGI Knock Outs for JSRP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JSRP1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JSRP1 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JSRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016529 sarcoplasmic reticulum IBA 21873635
GO:0033017 sarcoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with JSRP1: view

Pathways & Interactions for JSRP1 Gene

PathCards logo

SuperPathways for JSRP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JSRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IBA,IDA 22927026
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity IBA 21873635
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 6556
genes like me logo Genes that share compounds with JSRP1: view

Transcripts for JSRP1 Gene

mRNA/cDNA for JSRP1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JSRP1

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

No ASD Table

Relevant External Links for JSRP1 Gene

GeneLoc Exon Structure for
JSRP1

Expression for JSRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JSRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for JSRP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JSRP1

SOURCE GeneReport for Unigene cluster for JSRP1 Gene:

Hs.330742

Evidence on tissue expression from TISSUES for JSRP1 Gene

  • Muscle(4.7)
genes like me logo Genes that share expression patterns with JSRP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia JSRP1 30 31
  • 77.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Jsrp1 30 17 31
  • 69.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Jsrp1 30
  • 68.14 (n)
Species where no ortholog for JSRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for JSRP1: view image

Paralogs for JSRP1 Gene

No data available for Paralogs for JSRP1 Gene

Variants for JSRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JSRP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs10426549 - p.Val92Ala
rs35356610 - p.Arg233Gln
rs74521370 - p.Pro108Leu
rs80043033 - p.Gly150Ala

Additional dbSNP identifiers (rs#s) for JSRP1 Gene

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

Variant ID Type Subtype PubMed ID
dgv6218n54 CNV loss 21841781
nsv578382 CNV loss 21841781
nsv578383 CNV loss 21841781
nsv833707 CNV loss 17160897

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)

Additional Variant Information for JSRP1 Gene

Human Gene Mutation Database (HGMD)
JSRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JSRP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for JSRP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for JSRP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrophic muscular disease
  • muscular disorders, atrophic
myopathy, tubular aggregate, 1
  • tam
cerebral amyloid angiopathy, itm2b-related, 1
  • dementia, familial british; fbd
brody myopathy
  • brody disease
malignant hyperthermia
  • mhs
- elite association - COSMIC cancer census association via MalaCards
Search JSRP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for JSRP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with JSRP1: view

No data available for 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 AA … Zorzato F (The Journal of biological chemistry 2003) 2 3 23
  2. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. (PMID: 22927026) Yasuda T … Zorzato F (Human mutation 2013) 3 4
  3. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PMID: 20442750) Newby PR … Gough SC (European journal of human genetics : EJHG 2010) 3 41
  4. A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. (PMID: 16423849) Gouadon E … Melzer W (The Journal of physiology 2006) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for JSRP1 Gene

Sources for JSRP1 Gene