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JPH1 (junctophilin 1)

Identity

Alias_symbol (synonym)JP-1
Other aliasCMT2K
JP1
HGNC (Hugo) JPH1
LocusID (NCBI) 56704
Atlas_Id 64724
Location 8q21.11  [Link to chromosome band 8q21]
Location_base_pair Starts at 74234700 and ends at 74321361 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)JPH1   14201
Cards
Entrez_Gene (NCBI)JPH1  56704  junctophilin 1
AliasesCMT2K; JP-1; JP1
GeneCards (Weizmann)JPH1
Ensembl hg19 (Hinxton)ENSG00000104369 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104369 [Gene_View]  chr8:74234700-74321361 [Contig_View]  JPH1 [Vega]
ICGC DataPortalENSG00000104369
TCGA cBioPortalJPH1
AceView (NCBI)JPH1
Genatlas (Paris)JPH1
WikiGenes56704
SOURCE (Princeton)JPH1
Genetics Home Reference (NIH)JPH1
Genomic and cartography
GoldenPath hg38 (UCSC)JPH1  -     chr8:74234700-74321361 -  8q21.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JPH1  -     8q21.11   [Description]    (hg19-Feb_2009)
EnsemblJPH1 - 8q21.11 [CytoView hg19]  JPH1 - 8q21.11 [CytoView hg38]
Mapping of homologs : NCBIJPH1 [Mapview hg19]  JPH1 [Mapview hg38]
OMIM605266   607831   
Gene and transcription
Genbank (Entrez)BC017980 BC049372 BC098299 BC098314 BC099736
RefSeq transcript (Entrez)NM_001317830 NM_020647
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JPH1
Cluster EST : UnigeneHs.657367 [ NCBI ]
CGAP (NCI)Hs.657367
Alternative Splicing GalleryENSG00000104369
Gene ExpressionJPH1 [ NCBI-GEO ]   JPH1 [ EBI - ARRAY_EXPRESS ]   JPH1 [ SEEK ]   JPH1 [ MEM ]
Gene Expression Viewer (FireBrowse)JPH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56704
GTEX Portal (Tissue expression)JPH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HDC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HDC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HDC5
Splice isoforms : SwissVarQ9HDC5
PhosPhoSitePlusQ9HDC5
Domains : Interpro (EBI)Junctophilin    MORN   
Domain families : Pfam (Sanger)MORN (PF02493)   
Domain families : Pfam (NCBI)pfam02493   
Domain families : Smart (EMBL)MORN (SM00698)  
Conserved Domain (NCBI)JPH1
DMDM Disease mutations56704
Blocks (Seattle)JPH1
SuperfamilyQ9HDC5
Human Protein AtlasENSG00000104369
Peptide AtlasQ9HDC5
HPRD07286
IPIIPI00173461   IPI00974045   
Protein Interaction databases
DIP (DOE-UCLA)Q9HDC5
IntAct (EBI)Q9HDC5
FunCoupENSG00000104369
BioGRIDJPH1
STRING (EMBL)JPH1
ZODIACJPH1
Ontologies - Pathways
QuickGOQ9HDC5
Ontology : AmiGOmolecular_function  plasma membrane  muscle organ development  structural constituent of muscle  junctional sarcoplasmic reticulum membrane  integral component of membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  
Ontology : EGO-EBImolecular_function  plasma membrane  muscle organ development  structural constituent of muscle  junctional sarcoplasmic reticulum membrane  integral component of membrane  sarcoplasmic reticulum  Z disc  junctional membrane complex  regulation of ryanodine-sensitive calcium-release channel activity  calcium ion transport into cytosol  
NDEx NetworkJPH1
Atlas of Cancer Signalling NetworkJPH1
Wikipedia pathwaysJPH1
Orthology - Evolution
OrthoDB56704
GeneTree (enSembl)ENSG00000104369
Phylogenetic Trees/Animal Genes : TreeFamJPH1
HOVERGENQ9HDC5
HOGENOMQ9HDC5
Homologs : HomoloGeneJPH1
Homology/Alignments : Family Browser (UCSC)JPH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJPH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JPH1
dbVarJPH1
ClinVarJPH1
1000_GenomesJPH1 
Exome Variant ServerJPH1
ExAC (Exome Aggregation Consortium)JPH1 (select the gene name)
Genetic variants : HAPMAP56704
Genomic Variants (DGV)JPH1 [DGVbeta]
DECIPHERJPH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJPH1 
Mutations
ICGC Data PortalJPH1 
TCGA Data PortalJPH1 
Broad Tumor PortalJPH1
OASIS PortalJPH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJPH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJPH1
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 JPH1
DgiDB (Drug Gene Interaction Database)JPH1
DoCM (Curated mutations)JPH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JPH1 (select a term)
intoGenJPH1
Cancer3DJPH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605266    607831   
Orphanet
MedgenJPH1
Genetic Testing Registry JPH1
NextProtQ9HDC5 [Medical]
TSGene56704
GENETestsJPH1
Target ValidationJPH1
Huge Navigator JPH1 [HugePedia]
snp3D : Map Gene to Disease56704
BioCentury BCIQJPH1
ClinGenJPH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56704
Chemical/Pharm GKB GenePA29998
Clinical trialJPH1
Miscellaneous
canSAR (ICR)JPH1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJPH1
EVEXJPH1
GoPubMedJPH1
iHOPJPH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:11:28 CEST 2017

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