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Protein

Junctophilin-1

Gene

Jph1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • calcium-release channel activity Source: GO_Central
  • structural constituent of muscle Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Junctophilin-1
Short name:
JP-1
Alternative name(s):
Junctophilin type 1
Gene namesi
Name:Jph1
Synonyms:Jp1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 1

Organism-specific databases

MGIiMGI:1891495 Jph1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 638CytoplasmicSequence analysisAdd BLAST638
Transmembranei639 – 659Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Disruption phenotypei

Mice are unable to suckle probably due to defective E-C coupling in jaw muscles, and die shortly after birth. In skeletal muscles, triad junctions are reduced in number. Mutant mice developed less contractile force and abnormal sensitivities to extracellular Ca2+ were observed. Sarcoplasmic reticulum is often structurally abnormal.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001598451 – 660Junctophilin-1Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei157PhosphoserineBy similarity1
Modified residuei216PhosphoserineBy similarity1
Modified residuei220PhosphoserineBy similarity1
Modified residuei452PhosphoserineBy similarity1
Modified residuei461PhosphothreonineBy similarity1
Modified residuei465PhosphoserineBy similarity1
Modified residuei469PhosphoserineBy similarity1
Modified residuei475PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9ET80
PaxDbiQ9ET80
PeptideAtlasiQ9ET80
PRIDEiQ9ET80

PTM databases

iPTMnetiQ9ET80
PhosphoSitePlusiQ9ET80

Expressioni

Tissue specificityi

Specifically expressed in skeletal muscle. Weakly expressed in embryos and neonates. Abundant in young adult muscles.2 Publications

Gene expression databases

BgeeiENSMUSG00000042686 Expressed in 219 organ(s), highest expression level in quadriceps femoris
CleanExiMM_JPH1
ExpressionAtlasiQ9ET80 baseline and differential
GenevisibleiQ9ET80 MM

Interactioni

Protein-protein interaction databases

IntActiQ9ET80, 1 interactor
STRINGi10090.ENSMUSP00000039072

Structurei

3D structure databases

ProteinModelPortaliQ9ET80
SMRiQ9ET80
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati14 – 36MORN 1Add BLAST23
Repeati38 – 59MORN 2Add BLAST22
Repeati60 – 82MORN 3Add BLAST23
Repeati106 – 128MORN 4Add BLAST23
Repeati129 – 151MORN 5Add BLAST23
Repeati281 – 303MORN 6Add BLAST23
Repeati304 – 326MORN 7Add BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 142Gly-richAdd BLAST140
Compositional biasi226 – 258Ser-richAdd BLAST33
Compositional biasi359 – 409Ala-richAdd BLAST51

Domaini

The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.By similarity

Sequence similaritiesi

Belongs to the junctophilin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ9ET80
KOiK19530
OMAiPNFYQPG
OrthoDBiEOG091G03WX
PhylomeDBiQ9ET80
TreeFamiTF317210

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
PANTHERiPTHR23085 PTHR23085, 1 hit
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PIRSFiPIRSF037387 Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698 MORN, 7 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9ET80-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTGGRFDFDD GGTYCGGWEE GKAHGHGICT GPKGQGEYSG SWSHGFEVVG
60 70 80 90 100
VYTWPSGNTY QGYWAQGKRH GLGVETKGKW MYRGEWSHGF KGRYGVRQSL
110 120 130 140 150
CTPARYEGTW SNGLQDGYGV ETYGDGGTYQ GQWAGGMRHG YGVRQSVPYG
160 170 180 190 200
MATVIRSPLR TSLASLRSEQ SNGSVLHEAA AAAADSPAGT RGGFVLNFHA
210 220 230 240 250
DTELGKKKGG LFRRGSLLGS MKLRKSESKS SISSKRSSVR SDAAMSRISS
260 270 280 290 300
SDANSTISFG DVDCDFCPVE DHVDATTTET YMGEWKNDKR NGFGISERSN
310 320 330 340 350
GMKYEGEWAN NKRHGYGCTV FPDGSKEEGK YKNNILVRGI RKQLIPIRNT
360 370 380 390 400
KTREKVDRAI EGAQRAAAMA RTKVEIANSR TAHARAKADA ADQAALAARQ
410 420 430 440 450
ECDIARAVAR ELSPDFYQPG PDYIKQRCQE GGDIKENPEE KVLEKPPSPK
460 470 480 490 500
ESPHFYRKGT TPPRSPESSP KQSHSPQPSS PEPSKKQNPS PGARLSQDKQ
510 520 530 540 550
SLAEEQVTAF VNKPSMSKAP AKELGASVSK YSGRHHVPNP SNGELHSQYH
560 570 580 590 600
GYYVKLNTPQ HPPEDREDDR GVSQSSSALV PRPSPNKWGP PKSVTKPVAK
610 620 630 640 650
ESKTEPKAKK SELAIPKNPA SNDTCPSLEK EANSGPNSIM IVLVMLLNIG
660
LAILFVHFLT
Length:660
Mass (Da):71,905
Last modified:March 1, 2001 - v1
Checksum:iCC307C68F1250831
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WRN3A0A087WRN3_MOUSE
Junctophilin-1
Jph1
136Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB024445 mRNA Translation: BAB12043.1
AB024446 Genomic DNA Translation: BAB20319.1
BC120839 mRNA Translation: AAI20840.1
BC137669 mRNA Translation: AAI37670.1
CCDSiCCDS14833.1
RefSeqiNP_065629.1, NM_020604.2
XP_011236698.1, XM_011238396.2
XP_011236699.1, XM_011238397.2
XP_011236700.1, XM_011238398.2
XP_011236701.1, XM_011238399.2
UniGeneiMm.143761

Genome annotation databases

EnsembliENSMUST00000038382; ENSMUSP00000039072; ENSMUSG00000042686
GeneIDi57339
KEGGimmu:57339
UCSCiuc007aka.2 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB024445 mRNA Translation: BAB12043.1
AB024446 Genomic DNA Translation: BAB20319.1
BC120839 mRNA Translation: AAI20840.1
BC137669 mRNA Translation: AAI37670.1
CCDSiCCDS14833.1
RefSeqiNP_065629.1, NM_020604.2
XP_011236698.1, XM_011238396.2
XP_011236699.1, XM_011238397.2
XP_011236700.1, XM_011238398.2
XP_011236701.1, XM_011238399.2
UniGeneiMm.143761

3D structure databases

ProteinModelPortaliQ9ET80
SMRiQ9ET80
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9ET80, 1 interactor
STRINGi10090.ENSMUSP00000039072

PTM databases

iPTMnetiQ9ET80
PhosphoSitePlusiQ9ET80

Proteomic databases

MaxQBiQ9ET80
PaxDbiQ9ET80
PeptideAtlasiQ9ET80
PRIDEiQ9ET80

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000038382; ENSMUSP00000039072; ENSMUSG00000042686
GeneIDi57339
KEGGimmu:57339
UCSCiuc007aka.2 mouse

Organism-specific databases

CTDi56704
MGIiMGI:1891495 Jph1

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ9ET80
KOiK19530
OMAiPNFYQPG
OrthoDBiEOG091G03WX
PhylomeDBiQ9ET80
TreeFamiTF317210

Miscellaneous databases

PROiPR:Q9ET80
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000042686 Expressed in 219 organ(s), highest expression level in quadriceps femoris
CleanExiMM_JPH1
ExpressionAtlasiQ9ET80 baseline and differential
GenevisibleiQ9ET80 MM

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
PANTHERiPTHR23085 PTHR23085, 1 hit
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PIRSFiPIRSF037387 Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698 MORN, 7 hits
ProtoNetiSearch...

Entry informationi

Entry nameiJPH1_MOUSE
AccessioniPrimary (citable) accession number: Q9ET80
Secondary accession number(s): Q0VB08, Q9EQZ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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