Jph1 (junctophilin 1) - Rat Genome Database

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Gene: Jph1 (junctophilin 1) Mus musculus
Analyze
Symbol: Jph1
Name: junctophilin 1
RGD ID: 1318764
MGI Page MGI
Description: A structural constituent of muscle. Acts upstream of or within muscle organ development. Located in Z disc; junctional sarcoplasmic reticulum membrane; and plasma membrane. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ENSMUSG00000054314; JP-; JP-1; Jp1; junctophilin type 1; junctophilin-1; mitsugumin72
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39117,012,328 - 17,168,132 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl117,034,784 - 17,168,113 (-)EnsemblGRCm39 Ensembl
GRCm38116,942,104 - 17,097,922 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,964,560 - 17,097,889 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,987,545 - 17,087,879 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,982,678 - 17,083,012 (-)NCBIMGSCv36mm8
Celera116,921,250 - 17,021,597 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map15.17NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. MGDs mouse GO annotations MGD data from the GO Consortium
2. MGD IEA MGD IEA
3. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mouse MP Annotation Import Pipeline RGD automated import pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10349636   PMID:10949023   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11535622   PMID:12135771   PMID:12477932   PMID:12729900   PMID:14559359   PMID:16141072   PMID:16141073  
PMID:16452087   PMID:17347645   PMID:19940065   PMID:20937810   PMID:21267068   PMID:21518849   PMID:21677750   PMID:21873635   PMID:22020936   PMID:22927069   PMID:23148318   PMID:23715556  
PMID:25168384   PMID:29632175   PMID:31315980   PMID:35912995  


Genomics

Comparative Map Data
Jph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39117,012,328 - 17,168,132 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl117,034,784 - 17,168,113 (-)EnsemblGRCm39 Ensembl
GRCm38116,942,104 - 17,097,922 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,964,560 - 17,097,889 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,987,545 - 17,087,879 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,982,678 - 17,083,012 (-)NCBIMGSCv36mm8
Celera116,921,250 - 17,021,597 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map15.17NCBI
JPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38874,234,700 - 74,321,540 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl874,234,700 - 74,321,540 (-)EnsemblGRCh38hg38GRCh38
GRCh37875,146,935 - 75,233,775 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36875,309,493 - 75,396,117 (-)NCBINCBI36Build 36hg18NCBI36
Build 34875,311,996 - 75,396,117NCBI
Celera871,144,786 - 71,231,414 (-)NCBICelera
Cytogenetic Map8q21.11NCBI
HuRef870,637,846 - 70,724,493 (-)NCBIHuRef
CHM1_1875,198,909 - 75,285,541 (-)NCBICHM1_1
T2T-CHM13v2.0874,663,960 - 74,750,834 (-)NCBIT2T-CHM13v2.0
Jph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr856,813,553 - 6,920,488 (+)NCBIGRCr8
mRatBN7.252,030,227 - 2,137,171 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl52,030,281 - 2,125,284 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx54,146,657 - 4,241,653 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.055,785,523 - 5,880,520 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.055,473,359 - 5,568,364 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.051,417,414 - 1,511,754 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl51,417,478 - 1,511,416 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.051,413,646 - 1,507,659 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.451,110,289 - 1,207,092 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.151,110,442 - 1,204,716 (+)NCBI
Celera51,665,186 - 1,760,181 (+)NCBICelera
Cytogenetic Map5q11NCBI
Jph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554446,108,312 - 6,176,814 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554446,108,312 - 6,176,430 (+)NCBIChiLan1.0ChiLan1.0
JPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2789,977,880 - 90,064,163 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1865,605,684 - 65,691,948 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0870,768,560 - 70,855,068 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1872,413,794 - 72,500,252 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl872,413,794 - 72,505,309 (-)Ensemblpanpan1.1panPan2
JPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12922,701,531 - 22,785,712 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2922,703,647 - 22,785,415 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2922,966,671 - 23,050,394 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02922,813,226 - 22,897,018 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2922,815,346 - 22,897,353 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12922,872,083 - 22,956,225 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02922,907,073 - 22,990,897 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02923,190,302 - 23,274,157 (-)NCBIUU_Cfam_GSD_1.0
Jph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530356,492,214 - 56,580,189 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366482,868,419 - 2,956,370 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl461,628,299 - 61,716,544 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1461,628,304 - 61,716,550 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2467,369,034 - 67,423,314 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1869,839,696 - 69,919,915 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl869,839,460 - 69,919,950 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603971,452,965 - 71,533,094 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474416,937,092 - 17,013,862 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474416,937,138 - 17,013,765 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Jph1
5320 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:733
Count of miRNA genes:490
Interacting mature miRNAs:576
Transcripts:ENSMUST00000038382
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10412226Alpq4_malcohol preference QTL 4 (mouse)Not determined1122976684Mouse
1301891Alcp25_malcohol preference locus 25 (mouse)Not determined1125203185Mouse
1300834Cia20_mcollagen induced arthritis 20 (mouse)Not determined1125203185Mouse
1301482Morph1_mmorphine antinociception 1 (mouse)Not determined1130367747Mouse
1301275Sle10_msystematic lupus erythematosus susceptibility 10 (mouse)Not determined1288219436882352Mouse
1301370Adip1_madiposity 1 (mouse)Not determined1288219436882352Mouse
13824984Twq5_mtestis weight QTL 5 (mouse)13069992184732197Mouse
15092044Wtgrme1_mweek ten growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092046Wngrme1_mweek nine growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092048Wsigrme1_mweek six growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092050Wsegrme1_mweek seven growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092051Wegrme1_mweek eight growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092055Lgrme1_mlate growth rate, maternal effect 1 (mouse)1328014237782236Mouse
11039528Ccc3_mcolitis susceptibility in the Collaborative Cross 3 (mouse)13680142195051546Mouse
1301471Obq2_mobesity QTL 2 (mouse)Not determined1394162037941887Mouse
10043970Obq23_mobesity QTL 23 (mouse)Not determined1501266539012665Mouse
1301011Cplaq4_mcircadian period of locomotor activity 4 (mouse)Not determined1967344243673601Mouse
14700685Civq2_mcerebral infarct volume QTL 2 (mouse)11134048245340482Mouse
4141646Fecq3_mfecundity QTL 3 (mouse)Not determined11291692026517685Mouse


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000038382   ⟹   ENSMUSP00000039072
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl117,065,162 - 17,168,113 (-)Ensembl
GRCm38.p6 Ensembl116,994,938 - 17,097,889 (-)Ensembl
RefSeq Acc Id: ENSMUST00000186024   ⟹   ENSMUSP00000140705
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl117,034,784 - 17,074,443 (-)Ensembl
GRCm38.p6 Ensembl116,964,560 - 17,004,219 (-)Ensembl
RefSeq Acc Id: NM_020604   ⟹   NP_065629
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39117,065,162 - 17,168,113 (-)NCBI
GRCm38116,994,938 - 17,097,889 (-)NCBI
MGSCv37116,987,545 - 17,087,879 (-)RGD
Celera116,918,723 - 17,021,688 (-)ENTREZGENE
cM Map1 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011238396   ⟹   XP_011236698
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39117,067,165 - 17,168,132 (-)NCBI
GRCm38116,996,582 - 17,097,921 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011238398   ⟹   XP_011236700
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39117,066,806 - 17,168,132 (-)NCBI
GRCm38116,996,582 - 17,097,921 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001785237
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39117,012,328 - 17,168,132 (-)NCBI
GRCm38116,942,104 - 17,097,922 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_065629   ⟸   NM_020604
- UniProtKB: Q0VB08 (UniProtKB/Swiss-Prot),   Q9EQZ3 (UniProtKB/Swiss-Prot),   Q9ET80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011236700   ⟸   XM_011238398
- Peptide Label: isoform X1
- UniProtKB: Q0VB08 (UniProtKB/Swiss-Prot),   Q9EQZ3 (UniProtKB/Swiss-Prot),   Q9ET80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011236698   ⟸   XM_011238396
- Peptide Label: isoform X1
- UniProtKB: Q0VB08 (UniProtKB/Swiss-Prot),   Q9EQZ3 (UniProtKB/Swiss-Prot),   Q9ET80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000140705   ⟸   ENSMUST00000186024
RefSeq Acc Id: ENSMUSP00000039072   ⟸   ENSMUST00000038382

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ET80-F1-model_v2 AlphaFold Q9ET80 1-660 view protein structure

Promoters
RGD ID:6846611
Promoter ID:MM_ACW:235
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain
Transcripts:JPH1.CSEP07-UNSPLICED
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36117,081,696 - 17,082,196 (-)MPROMDB
RGD ID:6817964
Promoter ID:MM_KWN:197
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Kidney,   Lung
Transcripts:ENSMUST00000038382
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36117,087,539 - 17,088,039 (-)MPROMDB
RGD ID:6873238
Promoter ID:EPDNEW_M70
Type:multiple initiation site
Name:Jph1_1
Description:Mus musculus junctophilin 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38117,097,847 - 17,097,907EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1891495 AgrOrtholog
Ensembl Genes ENSMUSG00000042686 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000038382 ENTREZGENE
  ENSMUST00000038382.5 UniProtKB/Swiss-Prot
  ENSMUST00000186024.2 UniProtKB/TrEMBL
Gene3D-CATH Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain UniProtKB/Swiss-Prot
InterPro Junctophilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MORN UniProtKB/Swiss-Prot
KEGG Report mmu:57339 UniProtKB/Swiss-Prot
MGD MGI:1891495 ENTREZGENE
NCBI Gene 57339 ENTREZGENE
PANTHER JUNCTOPHILIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23085 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MORN UniProtKB/Swiss-Prot
PhenoGen Jph1 PhenoGen
PIRSF Junctophilin UniProtKB/Swiss-Prot
SMART MORN UniProtKB/Swiss-Prot
Superfamily-SCOP Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain UniProtKB/Swiss-Prot
UniProt A0A087WRN3_MOUSE UniProtKB/TrEMBL
  JPH1_MOUSE UniProtKB/Swiss-Prot
  Q0VB08 ENTREZGENE
  Q8C4L7_MOUSE UniProtKB/TrEMBL
  Q9EQZ3 ENTREZGENE
  Q9ET80 ENTREZGENE
UniProt Secondary Q0VB08 UniProtKB/Swiss-Prot
  Q9EQZ3 UniProtKB/Swiss-Prot