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Protein

Junctophilin-4

Gene

Jph4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at transcript 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. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.1 Publication

GO - Molecular functioni

  • calcium-release channel activity Source: GO_Central

GO - Biological processi

  • learning Source: MGI
  • neuromuscular process controlling balance Source: MGI
  • regulation of cytokine production Source: MGI
  • regulation of store-operated calcium entry Source: MGI
  • regulation of synaptic plasticity Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
Junctophilin-4
Short name:
JP-4
Alternative name(s):
Junctophilin-like 1 protein
Gene namesi
Name:Jph4
Synonyms:Jphl1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 14

Organism-specific databases

MGIiMGI:2443113 Jph4

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 – 606CytoplasmicSequence analysisAdd BLAST606
Transmembranei607 – 628Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST22

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Disruption phenotypei

Jph3 and Jph4 double null mutants exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001598531 – 628Junctophilin-4Add BLAST628

Proteomic databases

PaxDbiQ80WT0
PRIDEiQ80WT0

PTM databases

iPTMnetiQ80WT0
PhosphoSitePlusiQ80WT0

Expressioni

Tissue specificityi

Specifically expressed in brain. Highest levels in the olfactory tubercle, caudate putamen, nucleus accumbens, hippocampal formation, piriform cortex and cerebellar cortex. Expressed in disctete neurons sites. In hippocampal formation, expressed in dendrites of hippocampal pyramidal and denate granule cells. In cerebellum, it is highly expressed in Purkinje cells, while it is weakly expressed in granular cells.2 Publications

Gene expression databases

BgeeiENSMUSG00000022208 Expressed in 134 organ(s), highest expression level in brain
CleanExiMM_JPH4
GenevisibleiQ80WT0 MM

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000022819

Structurei

3D structure databases

ProteinModelPortaliQ80WT0
SMRiQ80WT0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati15 – 37MORN 1Add BLAST23
Repeati39 – 60MORN 2Add BLAST22
Repeati61 – 82MORN 3Add BLAST22
Repeati83 – 105MORN 4Add BLAST23
Repeati106 – 128MORN 5Add BLAST23
Repeati129 – 151MORN 6Add BLAST23
Repeati282 – 304MORN 7Add BLAST23
Repeati305 – 327MORN 8Add BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi170 – 180Poly-ProAdd BLAST11

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
InParanoidiQ80WT0
KOiK19530
OMAiPEAGCLM
OrthoDBiEOG091G03WX
PhylomeDBiQ80WT0
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, 6 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q80WT0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSPGGKFDFD DGGCYVGGWE AGRAHGYGVC TGPGAQGEYS GCWAHGFESL
60 70 80 90 100
GVFTGPGGHS YQGHWQQGKR EGLGVERKSR WTYRGEWLGG LKGRSGVWES
110 120 130 140 150
VSGLRYAGLW KDGFQDGYGT ETYSDGGTYQ GQWQAGKRHG YGVRQSVPYH
160 170 180 190 200
QAALLRSPRR TSLDSGHSDP PTPPPPLPLP GDEGGSPASG SRGGFVLAGP
210 220 230 240 250
GDADGASSRK RTPAAGGFFR RSLLLSGLRA GGRRSSLGSK RGSLRSEVSS
260 270 280 290 300
EVGSTGPPGS EASGPPIPAP PALIEGSATE VYAGEWRADR RSGYGVSQRS
310 320 330 340 350
NGLRYEGEWL GNRRHGYGRT TRPDGSREEG KYKRNRLVHG GRVRSLLPLA
360 370 380 390 400
LRRGKVKEKV DRAVEGARRA VSAARQRQEI AAARAADALL KAVAASSVAE
410 420 430 440 450
KAVEAARMAK LIAQDLQPML EAPGRRPRQD SGGSDTEPLD EDSPGVYENG
460 470 480 490 500
LTPSEGSPEL PSSPASSHQP WRAPACRSPL PPGGNWGPFS SPKAWPEEWG
510 520 530 540 550
GPGEQAEELA GYEAEDEAGV QGPGPRDGSP LLGGCSDSSG SLREEEGEDE
560 570 580 590 600
ESLPQLRAPG GSESEPVTTP VLRGLSSRGP DAGCLTEEVE EPAPTERPAQ
610 620
PGAANPLVVG AVALLDLSLA FLFSQLLT
Length:628
Mass (Da):66,000
Last modified:June 1, 2003 - v1
Checksum:i97B6BEA4A02C6143
GO
Isoform 2 (identifier: Q80WT0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-406: AADALLKAVAASSVAEKAVEAA → WASGAQIQLGLRGEVPLGTNHT
     407-628: Missing.

Note: Due to intron retention. No experimental confirmation available.
Show »
Length:406
Mass (Da):43,200
Checksum:i8ADB9737EEE2C2A5
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008197385 – 406AADAL…AVEAA → WASGAQIQLGLRGEVPLGTN HT in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_008198407 – 628Missing in isoform 2. 1 PublicationAdd BLAST222

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB099712 mRNA Translation: BAD01498.1
AY341261 mRNA Translation: AAR08903.1
AK148135 mRNA Translation: BAE28365.1
AK031092 mRNA Translation: BAC27249.1
CH466535 Genomic DNA Translation: EDL36304.1
BC052049 mRNA Translation: AAH52049.1
BC052376 mRNA Translation: AAH52376.1
BC052722 mRNA Translation: AAH52722.1
CCDSiCCDS27109.1 [Q80WT0-1]
RefSeqiNP_796023.2, NM_177049.5 [Q80WT0-1]
UniGeneiMm.19047

Genome annotation databases

EnsembliENSMUST00000022819; ENSMUSP00000022819; ENSMUSG00000022208 [Q80WT0-1]
ENSMUST00000124493; ENSMUSP00000121893; ENSMUSG00000022208 [Q80WT0-1]
GeneIDi319984
KEGGimmu:319984
UCSCiuc007tyg.1 mouse [Q80WT0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB099712 mRNA Translation: BAD01498.1
AY341261 mRNA Translation: AAR08903.1
AK148135 mRNA Translation: BAE28365.1
AK031092 mRNA Translation: BAC27249.1
CH466535 Genomic DNA Translation: EDL36304.1
BC052049 mRNA Translation: AAH52049.1
BC052376 mRNA Translation: AAH52376.1
BC052722 mRNA Translation: AAH52722.1
CCDSiCCDS27109.1 [Q80WT0-1]
RefSeqiNP_796023.2, NM_177049.5 [Q80WT0-1]
UniGeneiMm.19047

3D structure databases

ProteinModelPortaliQ80WT0
SMRiQ80WT0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000022819

PTM databases

iPTMnetiQ80WT0
PhosphoSitePlusiQ80WT0

Proteomic databases

PaxDbiQ80WT0
PRIDEiQ80WT0

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000022819; ENSMUSP00000022819; ENSMUSG00000022208 [Q80WT0-1]
ENSMUST00000124493; ENSMUSP00000121893; ENSMUSG00000022208 [Q80WT0-1]
GeneIDi319984
KEGGimmu:319984
UCSCiuc007tyg.1 mouse [Q80WT0-1]

Organism-specific databases

CTDi84502
MGIiMGI:2443113 Jph4

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ80WT0
KOiK19530
OMAiPEAGCLM
OrthoDBiEOG091G03WX
PhylomeDBiQ80WT0
TreeFamiTF317210

Miscellaneous databases

PROiPR:Q80WT0
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000022208 Expressed in 134 organ(s), highest expression level in brain
CleanExiMM_JPH4
GenevisibleiQ80WT0 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, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiJPH4_MOUSE
AccessioniPrimary (citable) accession number: Q80WT0
Secondary accession number(s): Q69FB2, Q8BMI1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 117 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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