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Protein

Junctophilin-4

Gene

JPH4

Organism
Homo sapiens (Human)
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 (By similarity).By similarity

GO - Biological processi

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, KIAA1831
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000092051.16
HGNCiHGNC:20156 JPH4
neXtProtiNX_Q96JJ6

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

Organism-specific databases

DisGeNETi84502
OpenTargetsiENSG00000092051
PharmGKBiPA134897649

Polymorphism and mutation databases

BioMutaiJPH4
DMDMi34582362

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001598521 – 628Junctophilin-4Add BLAST628

Proteomic databases

EPDiQ96JJ6
PaxDbiQ96JJ6
PeptideAtlasiQ96JJ6
PRIDEiQ96JJ6
ProteomicsDBi76971

PTM databases

iPTMnetiQ96JJ6
PhosphoSitePlusiQ96JJ6

Expressioni

Gene expression databases

BgeeiENSG00000092051 Expressed in 88 organ(s), highest expression level in prefrontal cortex
CleanExiHS_JPH4
ExpressionAtlasiQ96JJ6 baseline and differential
GenevisibleiQ96JJ6 HS

Organism-specific databases

HPAiCAB013492

Interactioni

Protein-protein interaction databases

BioGridi124103, 60 interactors
IntActiQ96JJ6, 3 interactors
STRINGi9606.ENSP00000348648

Structurei

3D structure databases

ProteinModelPortaliQ96JJ6
SMRiQ96JJ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati50 – 72MORN 1Add BLAST23
Repeati74 – 95MORN 2Add BLAST22
Repeati96 – 117MORN 3Add BLAST22
Repeati118 – 140MORN 4Add BLAST23
Repeati141 – 163MORN 5Add BLAST23
Repeati164 – 186MORN 6Add BLAST23
Repeati317 – 339MORN 7Add BLAST23
Repeati340 – 362MORN 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
InParanoidiQ96JJ6
KOiK19530
PhylomeDBiQ96JJ6
TreeFamiTF317210

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PIRSFiPIRSF037387 Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698 MORN, 6 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q96JJ6-1 [UniParc]FASTAAdd to basket
« 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 EASGPPAAAP PALIEGSATE VYAGEWRADR RSGFGVSQRS
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 SEGSDTEPLD EDSPGVYENG
460 470 480 490 500
LTPSEGSPEL PSSPASSRQP WRPPACRSPL PPGGDQGPFS SPKAWPEEWG
510 520 530 540 550
GAGAQAEELA GYEAEDEAGM QGPGPRDGSP LLGGCSDSSG SLREEEGEDE
560 570 580 590 600
EPLPPLRAPA GTEPEPIAML VLRGSSSRGP DAGCLTEELG EPAATERPAQ
610 620
PGAANPLVVG AVALLDLSLA FLFSQLLT
Length:628
Mass (Da):65,861
Last modified:September 9, 2003 - v2
Checksum:i60E7CF537FAF5D37
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWT0A0A087WWT0_HUMAN
Junctophilin-4
JPH4
629Annotation score:
F5H1L9F5H1L9_HUMAN
Junctophilin-4
JPH4
293Annotation score:

Sequence cautioni

The sequence BAB47460 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB70905 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti313R → Q in AAH55429 (PubMed:15489334).Curated1
Sequence conflicti580P → H in AAH55429 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058734 mRNA Translation: BAB47460.1 Different initiation.
CH471078 Genomic DNA Translation: EAW66135.1
CH471078 Genomic DNA Translation: EAW66139.1
BC055429 mRNA Translation: AAH55429.1
AL834411 mRNA Translation: CAD39073.1
AK055345 mRNA Translation: BAB70905.1 Different initiation.
CCDSiCCDS9603.1
RefSeqiNP_001139500.1, NM_001146028.1
NP_115828.2, NM_032452.2
UniGeneiHs.597841

Genome annotation databases

EnsembliENST00000356300; ENSP00000348648; ENSG00000092051
ENST00000397118; ENSP00000380307; ENSG00000092051
GeneIDi84502
KEGGihsa:84502
UCSCiuc001wkq.3 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB058734 mRNA Translation: BAB47460.1 Different initiation.
CH471078 Genomic DNA Translation: EAW66135.1
CH471078 Genomic DNA Translation: EAW66139.1
BC055429 mRNA Translation: AAH55429.1
AL834411 mRNA Translation: CAD39073.1
AK055345 mRNA Translation: BAB70905.1 Different initiation.
CCDSiCCDS9603.1
RefSeqiNP_001139500.1, NM_001146028.1
NP_115828.2, NM_032452.2
UniGeneiHs.597841

3D structure databases

ProteinModelPortaliQ96JJ6
SMRiQ96JJ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124103, 60 interactors
IntActiQ96JJ6, 3 interactors
STRINGi9606.ENSP00000348648

PTM databases

iPTMnetiQ96JJ6
PhosphoSitePlusiQ96JJ6

Polymorphism and mutation databases

BioMutaiJPH4
DMDMi34582362

Proteomic databases

EPDiQ96JJ6
PaxDbiQ96JJ6
PeptideAtlasiQ96JJ6
PRIDEiQ96JJ6
ProteomicsDBi76971

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356300; ENSP00000348648; ENSG00000092051
ENST00000397118; ENSP00000380307; ENSG00000092051
GeneIDi84502
KEGGihsa:84502
UCSCiuc001wkq.3 human

Organism-specific databases

CTDi84502
DisGeNETi84502
EuPathDBiHostDB:ENSG00000092051.16
GeneCardsiJPH4
HGNCiHGNC:20156 JPH4
HPAiCAB013492
neXtProtiNX_Q96JJ6
OpenTargetsiENSG00000092051
PharmGKBiPA134897649
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ96JJ6
KOiK19530
PhylomeDBiQ96JJ6
TreeFamiTF317210

Miscellaneous databases

ChiTaRSiJPH4 human
GenomeRNAii84502
PROiPR:Q96JJ6

Gene expression databases

BgeeiENSG00000092051 Expressed in 88 organ(s), highest expression level in prefrontal cortex
CleanExiHS_JPH4
ExpressionAtlasiQ96JJ6 baseline and differential
GenevisibleiQ96JJ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR017191 Junctophilin
IPR003409 MORN
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_HUMAN
AccessioniPrimary (citable) accession number: Q96JJ6
Secondary accession number(s): D3DS53, Q8ND44, Q96DQ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: September 9, 2003
Last modified: September 12, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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