ENSMUSG00000042686


Mus musculus

Features
Gene ID: ENSMUSG00000042686
  
Biological name :Jph1
  
Synonyms : Jph1 / Junctophilin-1 / Q9ET80
  
Possible biological names infered from orthology : Q9HDC5
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: A3
Gene start: 16964560
Gene end: 17097889
  
Corresponding Affymetrix probe sets: 10353309 (MoGene1.0st)   10353311 (MoGene1.0st)   1421520_at (Mouse Genome 430 2.0 Array)   1438428_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000039072
Ensembl peptide - ENSMUSP00000140705
NCBI entrez gene - 57339     See in Manteia.
MGI - MGI:1891495
RefSeq - XM_011238399
RefSeq - NM_020604
RefSeq - XM_011238396
RefSeq - XM_011238397
RefSeq - XM_011238398
RefSeq Peptide - NP_065629
swissprot - Q9ET80
swissprot - A0A087WRN3
Ensembl - ENSMUSG00000042686
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jph1aENSDARG00000058603Danio rerio
 jph1bENSDARG00000038826Danio rerio
 JPH1ENSGALG00000035845Gallus gallus
 JPH1ENSG00000104369Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Jph3 / Q9ET77 / Junctophilin-3 / Q8WXH2*ENSMUSG0000002531850
Jph2 / Q9ET78 / Junctophilin-2 / Q9BR39*ENSMUSG0000001781749
Jph4 / Q80WT0 / Junctophilin-4 / Q96JJ6*ENSMUSG0000002220836


Protein motifs (from Interpro)
Interpro ID Name
 IPR003409  MORN motif
 IPR017191  Junctophilin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007517 muscle organ development IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014701 junctional sarcoplasmic reticulum membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum TAS
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030314 junctional membrane complex IDA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 molecular_functionGO:0008307 structural constituent of muscle IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Smad2tm1.2Mwst/Smad2+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0004088 abnormal sarcoplasmic reticulum morphology "any structural abnormality in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Smad2tm1.2Mwst/Smad2+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0009411 abnormal skeletal muscle fiber triad morphology "any structural anomaly of the skeletal muscle fiber structure comprised of the transverse tubule and the two associated terminal cisternae; each fiber normally has thousands of triads" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad2tm1.2Mwst/Smad2+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smad2tm1.2Mwst/Smad2+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Smad2tm1.2Mwst/Smad2+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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