JSRP1 Gene
protein-coding GIFtS: 45
GCID: GC19M002252
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junctional sarcoplasmic reticulum protein 1
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Aliases
for JSRP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Junctional Sarcoplasmic Reticulum Protein 11 2 | | FLJ324161 | | JP-451 2 3 | | 2310032K21Rik2 | | Junctional-Face Membrane Protein Of 45 KDa Homolog2 3 | | Homolog Of Mouse Skeletal Muscle Sarcoplasmic Reticulum Protein JP-452 | | JP452 3 | | Skeletal Muscle Sarcoplasmic Reticulum Protein JP-452 |
Export aliases for JSRP1 gene to outside databasesPrevious GC identifers: GC19M002204 GC19M002205 GC19M002025 |
Summaries
for JSRP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for JSRP1:
The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. Theencoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux inskeletal muscle. (provided by RefSeq, Jul 2012)
UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2Function: Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of thevoltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarizationof the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptorcalcium release channels. May regulate CACNA1S membrane targeting and activity
|
Genomic Views
for JSRP1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011255.14
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for JSRP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 19p13.3JSRP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M002252: view genomic region
(about GC identifiers)
Start:
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2,252,250 bp from pter |
End:
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2,269,758 bp from pter |
Size:
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17,509 bases |
Orientation:
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minus strand |
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Proteins
for JSRP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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)
Subcellular location: Sarcoplasmic reticulum membrane (By similarity). Endoplasmic reticulum membrane (By similarity).Note=Colocalizes with ryanodine receptors at the sarcoplasmic reticulum triad membranes (By similarity)
Caution: It is uncertain whether Met-1 or Met-3 is the initiatorExplore the universe of human proteins at neXtProt for JSRP1: NX_Q96MG2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96MG2
JSRP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_653217.1
ENSEMBL proteins: ENSP00000468418 ENSP00000300961 ENSP00000465604
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016529 | sarcoplasmic reticulum |
-- | -- | | GO:0033017 | sarcoplasmic reticulum membrane |
IEA | -- |
JSRP1 for ontologies About GeneDecksing
JSRP1 Antibody Products:
Assay Products for JSRP1: |
Protein
Domains /
Families
for JSRP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
JSRP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96MG2ProtoNet protein and cluster: Q96MG2 |
Function
for JSRP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2Function: Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of thevoltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarizationof the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptorcalcium release channels. May regulate CACNA1S membrane targeting and activity
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JSRP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JSRP1
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Synthesis Service for JSRP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JSRP1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
JSRP1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Jsrp1tm1Zor for JSRP1
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jsrp1):
JSRP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for JSRP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003009 | skeletal muscle contraction |
IDA | -- | | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity |
-- | -- | | GO:0072657 | protein localization to membrane |
-- | -- |
JSRP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for JSRP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for JSRP1
1 HMDB Compound for JSRP1 About this table
Search CenterWatch for drugs/clinical trials and news about JSRP1 / JSPR1
|
Transcripts
for JSRP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: BM4648674 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000586471 ENST00000300961(uc002lvj.2) ENST00000593238 ENST00000590976
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JSRP1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JSRP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: JSRP1 (NM_144616) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for JSRP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JSRP1 |
Additional cDNA 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 24/25 AceView cDNA sequences (see all 25): AK056978 AW137573 BC021201 BE503611 BE743731 NM_144616 BE746917 F27540 BM474204 BI827484 AA688087 BQ685035 AI825241 AW000792 BF204446 AA628755 BG827814 AI805145 F34204 BG827699 F35910 AI298723 AA523549 BF306204
GeneLoc Exon Structure
|
Expression
for JSRP1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| JSRP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAACCAGAG
About this image
See JSRP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JSRP1
SOURCE GeneReport for Unigene cluster: Hs.330742
SABiosciences Custom PCR Arrays for JSRP1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JSRP1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JSRP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JSRP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JSRP1 |
Orthologs
for JSRP1 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for JSRP1 gene from 2/5 species (see all 5) About this table
ENSEMBL Gene Tree for JSRP1 (if available)
TreeFam Gene Tree for JSRP1 (if available) |
Paralogs
for JSRP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for JSRP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for JSRP1 (2252250 - 2269758 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for JSRP1
1 CNV: 5068 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JSRP1 |
|
Disorders
/ Diseases
for JSRP1 gene
(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.)
About This Section
|
JSRP1 for disorders About GeneDecksing
OMIM gene information: 608743
OMIM disorders: --
1  disease for JSRP1: About MalaCardsgraves' disease
1 disease from the University of Copenhagen DISEASES database for JSRP1:Malignant hyperthermia Human Genome Epidemiology (HuGE) Navigator: JSRP1 (1 document)
Export disorders for JSRP1 gene to outside databases
|
Publications
for JSRP1 gene (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)
About This Section
|
PubMed articles for JSRP1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with JSRP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2003)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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. (2006)
- JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. (PubMed id 22927026)2 Yasuda T.... Zorzato F. (2013)
- Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
- Follow-up of potential novel Graves' disease suscepti bility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PubMed id 20442750)1 Newby P.R....Gough S.C. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- 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. (2004)
- 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. (2002)
- Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. (PubMed id 18077436)9 Delbono O....Zorzato F. (2007)
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External Searches for JSRP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing JSRP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing JSRP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing JSRP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for JSRP1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for JSRP1 gene:
Search GeneIP for patents involving JSRP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for JSRP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat JSRP1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JSRP1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JSRP1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JSRP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JSRP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JSRP1 |
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 | | | JSRP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for JSRP1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JSRP1 |
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