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Protein

Junctophilin-4

Gene

JPH4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

  • calcium ion transport into cytosol Source: BHF-UCL
  • learning Source: Ensembl
  • neuromuscular process controlling balance Source: Ensembl
  • regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  • regulation of synaptic plasticity Source: Ensembl
Complete GO annotation...

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

HGNCiHGNC:20156. JPH4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 606CytoplasmicSequence analysisAdd BLAST606
Transmembranei607 – 628Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST22

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiQ96JJ6.
PhosphoSitePlusiQ96JJ6.

Expressioni

Gene expression databases

BgeeiENSG00000092051.
CleanExiHS_JPH4.
ExpressionAtlasiQ96JJ6. baseline and differential.
GenevisibleiQ96JJ6. HS.

Organism-specific databases

HPAiCAB013492.
HPA054232.

Interactioni

Protein-protein interaction databases

BioGridi124103. 57 interactors.
IntActiQ96JJ6. 1 interactor.
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
Contains 8 MORN repeats.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110639.
HOGENOMiHOG000264244.
HOVERGENiHBG031648.
InParanoidiQ96JJ6.
KOiK19530.
PhylomeDBiQ96JJ6.
TreeFamiTF317210.

Family and domain databases

InterProiIPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view]
PfamiPF02493. MORN. 8 hits.
[Graphical view]
PIRSFiPIRSF037387. Junctophilin. 1 hit.
SMARTiSM00698. MORN. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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.

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. 57 interactors.
IntActiQ96JJ6. 1 interactor.
STRINGi9606.ENSP00000348648.

PTM databases

iPTMnetiQ96JJ6.
PhosphoSitePlusiQ96JJ6.

Polymorphism and mutation databases

BioMutaiJPH4.
DMDMi34582362.

Proteomic databases

EPDiQ96JJ6.
PaxDbiQ96JJ6.
PeptideAtlasiQ96JJ6.
PRIDEiQ96JJ6.

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.
GeneCardsiJPH4.
HGNCiHGNC:20156. JPH4.
HPAiCAB013492.
HPA054232.
neXtProtiNX_Q96JJ6.
OpenTargetsiENSG00000092051.
PharmGKBiPA134897649.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110639.
HOGENOMiHOG000264244.
HOVERGENiHBG031648.
InParanoidiQ96JJ6.
KOiK19530.
PhylomeDBiQ96JJ6.
TreeFamiTF317210.

Miscellaneous databases

ChiTaRSiJPH4. human.
GenomeRNAii84502.
PROiQ96JJ6.

Gene expression databases

BgeeiENSG00000092051.
CleanExiHS_JPH4.
ExpressionAtlasiQ96JJ6. baseline and differential.
GenevisibleiQ96JJ6. HS.

Family and domain databases

InterProiIPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view]
PfamiPF02493. MORN. 8 hits.
[Graphical view]
PIRSFiPIRSF037387. Junctophilin. 1 hit.
SMARTiSM00698. MORN. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiJPH4_HUMAN
AccessioniPrimary (citable) accession number: Q96JJ6
Secondary accession number(s): D3DS53, Q8ND44, Q96DQ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: September 9, 2003
Last modified: November 2, 2016
This is version 118 of the entry and version 2 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.