Human Gene JPH1 (uc003yag.1) Description and Page Index
  Description: Homo sapiens junctophilin 1 (JPH1), mRNA.
RefSeq Summary (NM_020647): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:75,149,443-75,233,562 Size: 84,120 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr8:75,149,458-75,227,826 Size: 78,369 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:75,149,443-75,233,562)mRNA (may differ from genome)Protein (525 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: JPH1_HUMAN
DESCRIPTION: RecName: Full=Junctophilin-1; Short=JP-1; AltName: Full=Junctophilin type 1;
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.
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 membrane protein (By similarity). 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).
TISSUE SPECIFICITY: Abundantly expressed in skeletal muscle. Very low levels in heart.
DOMAIN: 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 family.
SIMILARITY: Contains 7 MORN repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): JPH1
CDC HuGE Published Literature: JPH1
Positive Disease Associations: Alcohol Drinking , Dehydroepiandrosterone , Echocardiography
Related Studies:
  1. Alcohol Drinking
    , , . [PubMed 0]
  2. Dehydroepiandrosterone
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
  3. Dehydroepiandrosterone
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: JPH1
Diseases sorted by gene-association score: charcot-marie-tooth disease, axonal, type 2k* (402), charcot-marie-tooth disease, type 4a (13), charcot-marie-tooth disease, type 2b2 (12), charcot-marie-tooth disease, type 2b1 (12), entropion (6), polyposis, juvenile intestinal (5), neuropathy, congenital hypomyelinating (4), myoclonic epilepsy associated with ragged-red fibers (4), charcot-marie-tooth disease (2), charcot-marie-tooth disease, type 2e (1), mitochondrial complex i deficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.99 RPKM in Muscle - Skeletal
Total median expression: 177.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.1083-0.459 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017191 - Junctophilin
IPR003409 - MORN

Pfam Domains:
PF02493 - MORN repeat

SCOP Domains:
82185 - Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9HDC5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0008307 structural constituent of muscle

Biological Process:
GO:0007517 muscle organ development
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402 calcium ion transport into cytosol

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030314 junctional membrane complex
GO:0033017 sarcoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  CR627477 - Homo sapiens mRNA; cDNA DKFZp762L0313 (from clone DKFZp762L0313).
BC049372 - Homo sapiens junctophilin 1, mRNA (cDNA clone IMAGE:4830621), partial cds.
BX537756 - Homo sapiens mRNA; cDNA DKFZp779I2251 (from clone DKFZp779I2251).
BC140875 - Homo sapiens junctophilin 1, mRNA (cDNA clone MGC:176552 IMAGE:9021743), complete cds.
BC140876 - Homo sapiens junctophilin 1, mRNA (cDNA clone MGC:176553 IMAGE:9021744), complete cds.
KJ899255 - Synthetic construct Homo sapiens clone ccsbBroadEn_08649 JPH1 gene, encodes complete protein.
BC139832 - Homo sapiens junctophilin 1, mRNA (cDNA clone IMAGE:40025929), partial cds.
BC098299 - Homo sapiens junctophilin 1, mRNA (cDNA clone IMAGE:40025925), partial cds.
BC098314 - Homo sapiens cDNA clone IMAGE:40025923.
BC099736 - Homo sapiens cDNA clone IMAGE:40025926.
BC113856 - Homo sapiens junctophilin 1, mRNA (cDNA clone IMAGE:40025928), partial cds.
BC114464 - Homo sapiens junctophilin 1, mRNA (cDNA clone IMAGE:40025927), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RTZ0, BC099736, JP1, JPH1_HUMAN, NM_020647, NP_065698, Q9HDC5
UCSC ID: uc003yag.1
RefSeq Accession: NM_020647
Protein: Q9HDC5 (aka JPH1_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC099736.1
exon count: 5CDS single in 3' UTR: no RNA size: 1651
ORF size: 1578CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 3334.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.