JPH1 Gene
protein-coding GIFtS: 51
GCID: GC08M075199
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|
junctophilin 1
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Aliases
for JPH1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Junctophilin 11 2 | | Junctophilin Type12 | | JP-11 2 3 | | Junctophilin-11 | | JP12 3 5 | | Mitsugumin721 | | Junctophilin Type 12 3 | | |
Export aliases for JPH1 gene to outside databasesPrevious GC identifers: GC08M074201 GC08M075089 GC08M074870 GC08M075196 GC08M075309 GC08M070637 |
Summaries
for JPH1 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 JPH1:
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of allexcitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encodedby this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning theendoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for theplasma membrane. This gene is a member of the junctophilin gene family. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: JPH1_HUMAN, Q9HDC5Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasmamembrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation forfunctional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to theconstruction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum)membranes
Gene Wiki entry for JPH1
|
Genomic Views
for JPH1 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_000008.10 NC_018919.1 NT_008183.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the JPH1 gene promoter:
p53 AP-1 MIF-1 AP-4 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) Nkx2-5 E4BP4 POU3F2 AP-2gamma
Other transcription factors
Search SABiosciences Chromatin IP Primers for JPH1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JPH1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q21 Ensembl cytogenetic band: 8q21.11 HGNC cytogenetic band: 8q21JPH1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M075199: view genomic region
(about GC identifiers)
Start:
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75,146,935 bp from pter |
End:
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75,233,563 bp from pter |
Size:
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86,629 bases |
Orientation:
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minus strand |
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Proteins
for JPH1 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: JPH1_HUMAN, Q9HDC5 (See
protein sequence)Recommended Name: Junctophilin-1 Size: 661 amino acids; 71686 Da
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane;Single-pass type IV membrane protein (By similarity). Sarcoplasmic reticulum membrane; Single-pass type IV membraneprotein (By similarity). Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored inendoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. Inskeletal muscle cells, it is predominantly localized at the junction of the A and I bands (By similarity)
Secondary accessions: B2RTZ0Explore the universe of human proteins at neXtProt for JPH1: NX_Q9HDC5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HDC5
JPH1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065698.1
ENSEMBL proteins: ENSP00000344488 ENSP00000429652
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
JPH1 for ontologies About GeneDecksing
JPH1 Antibody Products:
Assay Products for JPH1: |
Protein
Domains /
Families
for JPH1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
JPH1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9HDC5ProtoNet protein and cluster: Q9HDC5 1 Blocks protein family: IPB003409 MORN motif
UniProtKB/Swiss-Prot: JPH1_HUMAN, Q9HDC5Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding,possibly by interacting with phospholipids (By similarity)Similarity: Belongs to the junctophilin familySimilarity: Contains 7 MORN repeats |
Function
for JPH1 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: JPH1_HUMAN, Q9HDC5Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasmamembrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation forfunctional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to theconstruction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum)membranes
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JPH1
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0008307 | structural constituent of muscle |
IEA | -- |
JPH1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for JPH1:
Animal Models:
Mouse knock-out Jph1tm1Hta for JPH1
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Jph1):
JPH1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for JPH1 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 JPH1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/8 Interacting proteins for JPH1 (Q9HDC53 ENSP000003444884) via UniProtKB, MINT, STRING, and/or I2D (see all 8)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
JPH1 for ontologies About GeneDecksing
|
Drugs & Compounds
for JPH1 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 JPH1
Search CenterWatch for drugs/clinical trials and news about JPH1
|
Transcripts
for JPH1 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 JPH1 gene: NM_020647.2 Unigene Cluster for JPH1: Junctophilin 1 Hs.657367 [show with all ESTs]Unigene Representative Sequence: NM_0206473 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000342232(uc003yae.3 uc003yaf.3 uc003yag.1) ENST00000518195
ENST00000519947
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JPH1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JPH1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: JPH1 (NM_020647) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for JPH1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH1 |
Additional cDNA sequence: BC017980.1 BC049372.1 BC098299.1 BC098314.1 BC099736.1 BC113856.1 BC114464.1 BC139832.1 BC140875.1 BC140876.1 BX537756.1 CR627477.1 3 DOTS entries: DT.309953 DT.91696464 DT.121478254 24/35 AceView cDNA sequences (see all 35): AW170029 BU687964 AW769210 BC017980 AA456243 AI332493 BC049372 AI741125 BX488426 CR627477 BM681376 AW674352 BI914643 AI193262 BX537756 AW339949 AI689205 BM728204 Z25205 AW272576 AA715374 AA134132 AA639181 AI499313
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for JPH1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for JPH1
|
Expression
for JPH1 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
| JPH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTTGTTTA
About this image
See JPH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JPH1
SOURCE GeneReport for Unigene cluster: Hs.657367
UniProtKB/Swiss-Prot: JPH1_HUMAN, Q9HDC5Tissue specificity: Abundantly expressed in skeletal muscle. Very low levels in heart
SABiosciences Custom PCR Arrays for JPH1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JPH1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JPH1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JPH1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JPH1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH1 |
Orthologs
for JPH1 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 eukaryotes.
Orthologs for JPH1 gene from 8/26 species (see all 26) About this table
ENSEMBL Gene Tree for JPH1 (if available)
TreeFam Gene Tree for JPH1 (if available) |
Paralogs
for JPH1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for JPH1 gene
- JPH22 RSPH10B2 JPH42 MORN42 ALS2CL2 JPH32 RSPH10B22 MORN12
- ALS22 RSPH12 MORN32
8 SIMAP similar genes for JPH1 using alignment to 4 protein entries: JPH1_HUMAN (see all proteins):DKFZp762L0313 DKFZp779I2251 JPH3 MORN2 JPH2 JPH4
LOC118812 MORN4
JPH1 for paralogs About GeneDecksing
|
Genomic Variants
for JPH1 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 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for JPH1 (75146935 - 75233563 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for JPH1
1 CNV: 52621 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JPH1 |
|
Disorders
/ Diseases
for JPH1 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
|
JPH1 for disorders About GeneDecksing
OMIM gene information: 605266
OMIM disorders: --
3  diseases for JPH1: About MalaCardspneumonia malaria neuronitis
Human Genome Epidemiology (HuGE) Navigator: JPH1 (3 documents)
Export disorders for JPH1 gene to outside databases
|
Publications
for JPH1 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 JPH1 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with JPH1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 9 Nishi M....Takeshima H. (2000)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (2006)
- Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)1, 3 Takeshima H....Kangawa K. (2000)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle. (PubMed id 22020936)1 Golini L....Sorrentino V. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- A genome-scale protein interaction profile of Drosoph ila p53 uncovers additional nodes of the human p53 network. (PubMed id 20308539)1 Lunardi A....Collavin L. (2010)
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External Searches for JPH1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing JPH1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing JPH1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing JPH1 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 JPH1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for JPH1 gene:
Search GeneIP for patents involving JPH1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for JPH1 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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variant library, vector shuttling | | | OriGene Custom Antibody Services for JPH1 | | OriGene Custom Protein Services for JPH1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat JPH1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JPH1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JPH1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JPH1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JPH1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JPH1 |
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 | | | JPH1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JPH1 |
|  |  |  | | | | ThermoFisher Antibodies for JPH1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JPH1 |
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