Jph1 MGI Mouse Gene Detail - MGI:1891495

Symbol

Jph1
Name

junctophilin 1
Synonyms

ENSMUSG00000054314, JP-1, mitsugumin72

Feature Type

protein coding gene
IDs

MGI:1891495
NCBI Gene: 57339
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr1:17034784-17168113 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 5.17 cM, cytoband A4
Mapping Data

2 experiments

SNPs within 2kb

3747 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1891495	protein coding gene	Chr1:17012328-17168132 (-)
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 (-)

Human Ortholog

JPH1, junctophilin 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

JPH1, junctophilin 1
Synonyms

CMT2K, CMYO25, JP-1, JP1
Links

HGNC:14201

NCBI Gene ID: 56704

neXtProt AC: NX_Q9HDC5

UniProt: Q9HDC5
Chr Location

8q21.11; chr8:74234700-74321540 (-) GRCh38

MGI Vertebrate Homology

Jph1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: JPH1
Protein SuperFamily

Junctophilin
Gene Tree

Jph1

Diseases

1 with human JPH1 associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease axonal type 2K IDs Charcot-Marie-Tooth disease axonal type 2K DOID:0110167 ICD10CM:G60.0 OMIM:607831 ORDO:101097

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
1 images
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Endonuclease-mediated

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

34 strains or lines available

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.

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All GO Annotations

17
GO References

6

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

750
Tissues

20
cDNA Data

17
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA JPH1

Xenbase jph1

ZFIN jph1b

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All Sequences

38
RefSeq

7
UniProt

3
CCDS

CCDS14833.1

Ensembl

ENSMUSG00000042686 (Evidence)
NCBI Gene

57339

			Length	Strain/Species	Flank
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

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UniProt

3 Sequences
Protein Ontology

PR:000009222 junctophilin-1

(term hierarchy)
InterPro Domains

IPR017191 Junctophilin

IPR003409 MORN repeat

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All nucleic 19

cDNA 17

Primer pair 1

Other 1

Microarray probesets 3

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MGI:3708512

Summaries

All 34

Developmental Gene Expression 5

Gene Ontology 6

Phenotypes 6
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:330863 Ashida Y, et al., Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles. Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C885-C895

TSS for Jph1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11061	Chr1:17168063-17168096 (-)	33 bp
Tssr11060	Chr1:17168022-17168030 (-)	87 bp
Tssr15	Chr1:17167973-17167977 (-)	138 bp
Tssr11059	Chr1:17167932-17167937 (-)	178 bp
Tssr11058	Chr1:17152682-17152686 (-)	15,429 bp
Tssr11057	Chr1:17085676-17085680 (-)	82,435 bp
Tssr11056	Chr1:17067161-17067164 (-)	100,950 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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