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Aliases for JPH1 Gene

Aliases for JPH1 Gene

  • Junctophilin 1 2 3 5
  • Junctophilin Type 1 3 4
  • JP-1 3 4
  • JP1 3 4
  • Junctophilin-1 3
  • CMT2K 3

External Ids for JPH1 Gene

Previous GeneCards Identifiers for JPH1 Gene

  • GC08M074201
  • GC08M075089
  • GC08M074870
  • GC08M075196
  • GC08M075199
  • GC08M075309
  • GC08M070637

Summaries for JPH1 Gene

Entrez Gene Summary for JPH1 Gene

  • Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]

GeneCards Summary for JPH1 Gene

JPH1 (Junctophilin 1) is a Protein Coding gene. Diseases associated with JPH1 include Charcot-Marie-Tooth Disease, Type 4A and Charcot-Marie-Tooth Disease, Type 2B2. GO annotations related to this gene include structural constituent of muscle. An important paralog of this gene is JPH3.

UniProtKB/Swiss-Prot for JPH1 Gene

  • Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.

Gene Wiki entry for JPH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JPH1 Gene

Genomics for JPH1 Gene

Regulatory Elements for JPH1 Gene

Enhancers for JPH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G074292 0.8 dbSUPER 20.4 +21.7 21704 14.0 CEBPG ZNF366 CBX5 EED ZNF26 NFE2 ETV6 IKZF2 CREM EZH2 JPH1 GDAP1 ENSG00000253596 PIR38324
GH08G074250 1 ENCODE dbSUPER 14.5 +70.8 70766 1.7 JUN INSM2 FEZF1 FOSL1 ZSCAN5C FOSL2 ZNF600 FOS TCF7L2 ZNF501 JPH1 GDAP1 GC08P074237 PIR38324
GH08G074280 0.9 Ensembl ENCODE dbSUPER 15.7 +39.9 39923 1.6 ZFHX2 EGR2 JPH1 GDAP1 PIR38324 GC08P074237
GH08G074235 0.9 ENCODE dbSUPER 14.6 +84.5 84522 3.4 SCRT1 CTCF USF1 ZNF654 BHLHE40 USF2 TRIM22 FEZF1 ATF2 RAD21 JPH1 GDAP1 GC08P074237 PIR60941
GH08G074283 0.7 ENCODE dbSUPER 17.6 +37.1 37103 2.0 ZNF133 EP300 JPH1 GDAP1 PIR38324 GC08P074237
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JPH1 on UCSC Golden Path with GeneCards custom track

Promoters for JPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225966 399 1800 PKNOX1 SIN3A KLF17 RAD21 ZEB1 GLIS2 ZNF366 SCRT2 ZNF391 EGR2

Genomic Location for JPH1 Gene

Chromosome:
8
Start:
74,234,700 bp from pter
End:
74,321,500 bp from pter
Size:
86,801 bases
Orientation:
Minus strand

Genomic View for JPH1 Gene

Genes around JPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JPH1 Gene

Proteins for JPH1 Gene

  • Protein details for JPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HDC5-JPH1_HUMAN
    Recommended name:
    Junctophilin-1
    Protein Accession:
    Q9HDC5
    Secondary Accessions:
    • B2RTZ0

    Protein attributes for JPH1 Gene

    Size:
    661 amino acids
    Molecular mass:
    71686 Da
    Quaternary structure:
    No Data Available

neXtProt entry for JPH1 Gene

Post-translational modifications for JPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JPH1 Gene

No data available for DME Specific Peptides for JPH1 Gene

Domains & Families for JPH1 Gene

Protein Domains for JPH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for JPH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HDC5

UniProtKB/Swiss-Prot:

JPH1_HUMAN :
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.
  • Belongs to the junctophilin family.
Domain:
  • The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.
Family:
  • Belongs to the junctophilin family.
genes like me logo Genes that share domains with JPH1: view

No data available for Gene Families for JPH1 Gene

Function for JPH1 Gene

Molecular function for JPH1 Gene

UniProtKB/Swiss-Prot Function:
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.

Gene Ontology (GO) - Molecular Function for JPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008307 structural constituent of muscle IEA --
genes like me logo Genes that share ontologies with JPH1: view
genes like me logo Genes that share phenotypes with JPH1: view

Human Phenotype Ontology for JPH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JPH1 Gene

MGI Knock Outs for JPH1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JPH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for JPH1 Gene

Localization for JPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JPH1 Gene

Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands (By similarity). {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 JPH1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 3
mitochondrion 2
extracellular 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for JPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 19095005
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with JPH1: view

Pathways & Interactions for JPH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development IEA --
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS 19095005
GO:0060402 calcium ion transport into cytosol TAS 19095005
genes like me logo Genes that share ontologies with JPH1: view

No data available for Pathways by source and SIGNOR curated interactions for JPH1 Gene

Drugs & Compounds for JPH1 Gene

No Compound Related Data Available

Transcripts for JPH1 Gene

Unigene Clusters for JPH1 Gene

Junctophilin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for JPH1

Alternative Splicing Database (ASD) splice patterns (SP) for JPH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1:
SP2: -

Relevant External Links for JPH1 Gene

GeneLoc Exon Structure for
JPH1
ECgene alternative splicing isoforms for
JPH1

Expression for JPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for JPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for JPH1 Gene

This gene is overexpressed in Muscle - Skeletal (x28.6).

Protein differential expression in normal tissues from HIPED for JPH1 Gene

This gene is overexpressed in Heart (18.7), Gallbladder (17.6), Pancreas (10.0), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JPH1 Gene



NURSA nuclear receptor signaling pathways regulating expression of JPH1 Gene:

JPH1

SOURCE GeneReport for Unigene cluster for JPH1 Gene:

Hs.657367

mRNA Expression by UniProt/SwissProt for JPH1 Gene:

Q9HDC5-JPH1_HUMAN
Tissue specificity: Abundantly expressed in skeletal muscle. Very low levels in heart.

Evidence on tissue expression from TISSUES for JPH1 Gene

  • Muscle(2.7)
genes like me logo Genes that share expression patterns with JPH1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for JPH1 Gene

Orthologs for JPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JPH1 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia JPH1 34 35
  • 93.24 (n)
cow
(Bos Taurus)
Mammalia JPH1 34 35
  • 91.03 (n)
mouse
(Mus musculus)
Mammalia Jph1 34 16 35
  • 90.02 (n)
rat
(Rattus norvegicus)
Mammalia Jph1 34
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia JPH1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JPH1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves JPH1 34 35
  • 76.55 (n)
lizard
(Anolis carolinensis)
Reptilia JPH1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jph1 34
  • 72.24 (n)
Str.18904 34
zebrafish
(Danio rerio)
Actinopterygii jph1b 34 35
  • 69.12 (n)
jph1a 35
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta jp 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jph-1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for JPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for JPH1 Gene

ENSEMBL:
Gene Tree for JPH1 (if available)
TreeFam:
Gene Tree for JPH1 (if available)

Paralogs for JPH1 Gene

Paralogs for JPH1 Gene

(8) SIMAP similar genes for JPH1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with JPH1: view

Variants for JPH1 Gene

Sequence variations from dbSNP and Humsavar for JPH1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs201314759 other 74,315,362(+) CCCTC(C/G/T)GGAAG reference, missense
rs1000007194 -- 74,268,815(+) AATGG(A/G)CAAAA intron-variant
rs1000010107 -- 74,317,329(+) TCTGG(A/G)TAGAT intron-variant
rs1000030510 -- 74,275,435(+) AGAGC(A/G)AATTC intron-variant
rs1000089823 -- 74,285,506(+) TCTGC(A/G)ACTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JPH1 Gene

Variant ID Type Subtype PubMed ID
esv2672906 CNV deletion 23128226
esv2761436 CNV gain 21179565
esv3617653 CNV loss 21293372
esv3617655 CNV loss 21293372
nsv1016431 CNV gain 25217958
nsv1032322 CNV gain 25217958
nsv515910 CNV loss 19592680

Variation tolerance for JPH1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JPH1 Gene

Human Gene Mutation Database (HGMD)
JPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JPH1 Gene

Disorders for JPH1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for JPH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4a
  • charcot-marie-tooth disease type 4a
charcot-marie-tooth disease, type 2b2
  • charcot-marie-tooth disease, axonal, type 2b2
charcot-marie-tooth disease, type 2b1
  • charcot-marie-tooth disease, axonal, type 2b1
cowden syndrome 1
  • lhermitte-duclos syndrome
charcot-marie-tooth disease, axonal, type 2k
  • charcot-marie-tooth disease, axonal, with vocal cord paresis
- elite association - COSMIC cancer census association via MalaCards
Search JPH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for JPH1

Genetic Association Database (GAD)
JPH1
Human Genome Epidemiology (HuGE) Navigator
JPH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JPH1
genes like me logo Genes that share disorders with JPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JPH1 Gene

Publications for JPH1 Gene

  1. Characterization of human junctophilin subtype genes. (PMID: 10891348) Nishi M. … Takeshima H. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Junctophilins: a novel family of junctional membrane complex proteins. (PMID: 10949023) Takeshima H. … Kangawa K. (Mol. Cell 2000) 2 3 64

Products for JPH1 Gene

Sources for JPH1 Gene

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