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JSRP1 (junctional sarcoplasmic reticulum protein 1)

Identity

Alias_symbol (synonym)JP-45
FLJ32416
Other aliasJP45
HGNC (Hugo) JSRP1
LocusID (NCBI) 126306
Atlas_Id 64731
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2252251 and ends at 2256423 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)JSRP1   24963
Cards
Entrez_Gene (NCBI)JSRP1  126306  junctional sarcoplasmic reticulum protein 1
AliasesJP-45; JP45
GeneCards (Weizmann)JSRP1
Ensembl hg19 (Hinxton)ENSG00000167476 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167476 [Gene_View]  chr19:2252251-2256423 [Contig_View]  JSRP1 [Vega]
ICGC DataPortalENSG00000167476
TCGA cBioPortalJSRP1
AceView (NCBI)JSRP1
Genatlas (Paris)JSRP1
WikiGenes126306
SOURCE (Princeton)JSRP1
Genetics Home Reference (NIH)JSRP1
Genomic and cartography
GoldenPath hg38 (UCSC)JSRP1  -     chr19:2252251-2256423 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JSRP1  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblJSRP1 - 19p13.3 [CytoView hg19]  JSRP1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIJSRP1 [Mapview hg19]  JSRP1 [Mapview hg38]
OMIM608743   
Gene and transcription
Genbank (Entrez)AK056978 AW137573 BC021201 DA897543 DA898560
RefSeq transcript (Entrez)NM_144616
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JSRP1
Cluster EST : UnigeneHs.330742 [ NCBI ]
CGAP (NCI)Hs.330742
Alternative Splicing GalleryENSG00000167476
Gene ExpressionJSRP1 [ NCBI-GEO ]   JSRP1 [ EBI - ARRAY_EXPRESS ]   JSRP1 [ SEEK ]   JSRP1 [ MEM ]
Gene Expression Viewer (FireBrowse)JSRP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126306
GTEX Portal (Tissue expression)JSRP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MG2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MG2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MG2
Splice isoforms : SwissVarQ96MG2
PhosPhoSitePlusQ96MG2
Domains : Interpro (EBI)JSRP1   
Domain families : Pfam (Sanger)JSRP (PF15312)   
Domain families : Pfam (NCBI)pfam15312   
Conserved Domain (NCBI)JSRP1
DMDM Disease mutations126306
Blocks (Seattle)JSRP1
SuperfamilyQ96MG2
Human Protein AtlasENSG00000167476
Peptide AtlasQ96MG2
HPRD08724
IPIIPI00065501   
Protein Interaction databases
DIP (DOE-UCLA)Q96MG2
IntAct (EBI)Q96MG2
FunCoupENSG00000167476
BioGRIDJSRP1
STRING (EMBL)JSRP1
ZODIACJSRP1
Ontologies - Pathways
QuickGOQ96MG2
Ontology : AmiGOskeletal muscle contraction  sarcoplasmic reticulum  sarcoplasmic reticulum membrane  regulation of ryanodine-sensitive calcium-release channel activity  
Ontology : EGO-EBIskeletal muscle contraction  sarcoplasmic reticulum  sarcoplasmic reticulum membrane  regulation of ryanodine-sensitive calcium-release channel activity  
NDEx NetworkJSRP1
Atlas of Cancer Signalling NetworkJSRP1
Wikipedia pathwaysJSRP1
Orthology - Evolution
OrthoDB126306
GeneTree (enSembl)ENSG00000167476
Phylogenetic Trees/Animal Genes : TreeFamJSRP1
HOVERGENQ96MG2
HOGENOMQ96MG2
Homologs : HomoloGeneJSRP1
Homology/Alignments : Family Browser (UCSC)JSRP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJSRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JSRP1
dbVarJSRP1
ClinVarJSRP1
1000_GenomesJSRP1 
Exome Variant ServerJSRP1
ExAC (Exome Aggregation Consortium)JSRP1 (select the gene name)
Genetic variants : HAPMAP126306
Genomic Variants (DGV)JSRP1 [DGVbeta]
DECIPHERJSRP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJSRP1 
Mutations
ICGC Data PortalJSRP1 
TCGA Data PortalJSRP1 
Broad Tumor PortalJSRP1
OASIS PortalJSRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJSRP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJSRP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JSRP1
DgiDB (Drug Gene Interaction Database)JSRP1
DoCM (Curated mutations)JSRP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JSRP1 (select a term)
intoGenJSRP1
Cancer3DJSRP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608743   
Orphanet
MedgenJSRP1
Genetic Testing Registry JSRP1
NextProtQ96MG2 [Medical]
TSGene126306
GENETestsJSRP1
Target ValidationJSRP1
Huge Navigator JSRP1 [HugePedia]
snp3D : Map Gene to Disease126306
BioCentury BCIQJSRP1
ClinGenJSRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126306
Chemical/Pharm GKB GenePA143485511
Clinical trialJSRP1
Miscellaneous
canSAR (ICR)JSRP1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJSRP1
EVEXJSRP1
GoPubMedJSRP1
iHOPJSRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:53:55 CEST 2017

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