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Jph1 Gene Detail
Summary
  • Symbol
    Jph1
  • Name
    junctophilin 1
  • Synonyms
    ENSMUSG00000054314, JP-1, mitsugumin72
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891495
    NCBI Gene: 57339
  • Gene Overview
    MyGene.info: JPH1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:16964560-17097889 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 5.17 cM, cytoband A4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    659 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891495
protein coding gene Chr1:16942104-17097904 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015860
protein coding gene Chr1:14474230-14610909 (-)
A/J MGP_AJ_G0015841
protein coding gene Chr1:14291602-14433193 (-)
AKR/J MGP_AKRJ_G0015800
protein coding gene Chr1:14309244-14446949 (-)
BALB/cJ MGP_BALBcJ_G0015797
protein coding gene Chr1:14016093-14149104 (-)
C3H/HeJ MGP_C3HHeJ_G0015631
protein coding gene Chr1:14354827-14497676 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016251
protein coding gene Chr1:15148191-15290298 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013972
protein coding gene Chr1:12866143-12994712 (-)
CAST/EiJ MGP_CASTEiJ_G0015212
protein coding gene Chr1:14405936-14542864 (-)
CBA/J MGP_CBAJ_G0015604
protein coding gene Chr1:15453703-15605780 (-)
DBA/2J MGP_DBA2J_G0015703
protein coding gene Chr1:13920513-14051209 (-)
FVB/NJ MGP_FVBNJ_G0015708
protein coding gene Chr1:13681964-13813900 (-)
LP/J MGP_LPJ_G0015775
protein coding gene Chr1:14685179-14818966 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015727
protein coding gene Chr1:16093901-16254748 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016298
protein coding gene Chr1:14281330-14420086 (-)
PWK/PhJ MGP_PWKPhJ_G0014996
protein coding gene Chr1:13649278-13784404 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014777
protein coding gene Chr1:14443334-14573818 (-)
WSB/EiJ MGP_WSBEiJ_G0015275
protein coding gene Chr1:14222985-14369859 (-)



Homology
more
  • Human Ortholog
    JPH1, junctophilin 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    JPH1, junctophilin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT2K, JP1, JP-1
  • Links
    NCBI Gene ID: 56704
    neXtProt AC: NX_Q9HDC5
    UniProt: Q9HDC5

  • Chr Location
    8q21.11; chr8:74234700-74321545 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human JPH1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    1 images
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000042686 Ensembl Gene Model | MGI Sequence Detail 133330 C57BL/6J ±  kb
transcript ENSMUST00000038382 Ensembl | MGI Sequence Detail 4809 Not Applicable  
polypeptide ENSMUSP00000039072 Ensembl | MGI Sequence Detail 660 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 17
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:3708512
References
more
  • Summaries
    All 33
    Developmental Gene Expression 4
    Gene Ontology 7
    Phenotypes 5
  • Earliest
    J:63879 Takeshima H, et al., Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell. 2000 Jul;6(1):11-22
  • Latest
    J:261479 Nakada T, et al., Physical interaction of junctophilin and the CaV1.1 C terminus is crucial for skeletal muscle contraction. Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4507-4512

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory