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Protein

Junctophilin-1

Gene

JPH1

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

GO - Molecular functioni

GO - Biological processi

  • calcium ion transport into cytosol Source: BHF-UCL
  • muscle organ development Source: Ensembl
  • regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104369-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Junctophilin-1
Short name:
JP-1
Alternative name(s):
Junctophilin type 1
Gene namesi
Name:JPH1
Synonyms:JP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:14201. JPH1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 639CytoplasmicSequence analysisAdd BLAST639
Transmembranei640 – 660Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • junctional membrane complex Source: UniProtKB
  • junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  • plasma membrane Source: UniProtKB-SubCell
  • Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi56704.
OpenTargetsiENSG00000104369.
PharmGKBiPA29998.

Polymorphism and mutation databases

BioMutaiJPH1.
DMDMi27805492.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001598441 – 661Junctophilin-1Add BLAST661

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei157PhosphoserineCombined sources1
Modified residuei216PhosphoserineCombined sources1
Modified residuei220PhosphoserineCombined sources1
Modified residuei448PhosphothreonineCombined sources1
Modified residuei452PhosphoserineCombined sources1
Modified residuei461PhosphothreonineCombined sources1
Modified residuei465PhosphoserineCombined sources1
Modified residuei469PhosphoserineCombined sources1
Modified residuei475PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HDC5.
MaxQBiQ9HDC5.
PaxDbiQ9HDC5.
PeptideAtlasiQ9HDC5.
PRIDEiQ9HDC5.

PTM databases

iPTMnetiQ9HDC5.
PhosphoSitePlusiQ9HDC5.

Expressioni

Tissue specificityi

Abundantly expressed in skeletal muscle. Very low levels in heart.1 Publication

Gene expression databases

BgeeiENSG00000104369.
CleanExiHS_JPH1.
ExpressionAtlasiQ9HDC5. baseline and differential.
GenevisibleiQ9HDC5. HS.

Organism-specific databases

HPAiCAB013461.
HPA008996.
HPA009413.

Interactioni

Protein-protein interaction databases

BioGridi121191. 46 interactors.
IntActiQ9HDC5. 21 interactors.
STRINGi9606.ENSP00000344488.

Structurei

3D structure databases

ProteinModelPortaliQ9HDC5.
SMRiQ9HDC5.
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
Contains 7 MORN repeats.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110639.
HOGENOMiHOG000264244.
HOVERGENiHBG031648.
InParanoidiQ9HDC5.
KOiK19530.
OMAiHPPEDME.
OrthoDBiEOG091G03WX.
PhylomeDBiQ9HDC5.
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.

Q9HDC5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTGGRFDFDD GGTYCGGWEE GKAHGHGICT GPKGQGEYSG SWSHGFEVVG
60 70 80 90 100
GYTWPSGNTY QGYWAQGKRH GLGVETKGKW MYRGEWSHGF KGRYGVRQSL
110 120 130 140 150
CTPARYEGTW SNGLQDGYGV ETYGDGGTYQ GQWAGGMRHG YGVRQSVPYG
160 170 180 190 200
MATVIRSPLR TSLASLRSEQ SNGSVLHDAA AAADSPAGTR GGFVLNFHAD
210 220 230 240 250
AELAGKKKGG LFRRGSLLGS MKLRKSESKS SISSKRSSVR SDAAMSRISS
260 270 280 290 300
SDANSTISFG DVDCDFCPVE DHVDATTTET YMGEWKNDKR NGFGVSERSN
310 320 330 340 350
GMKYEGEWAN NKRHGYGCTV FPDGSKEEGK YKNNILVRGI RKQLIPIRHT
360 370 380 390 400
KTREKVDRAI EGAQRAAAMA RTKVEIANSR TAHARAKADA ADQAALAARQ
410 420 430 440 450
ECDIARAVAR ELSPDFYQPG PDYVKQRFQE GVDAKENPEE KVPEKPPTPK
460 470 480 490 500
ESPHFYRKGT TPPRSPEASP KHSHSPASSP KPLKKQNPSS GARLNQDKRS
510 520 530 540 550
VADEQVTAIV NKPLMSKAPT KEAGAVVPQS KYSGRHHIPN PSNGELHSQY
560 570 580 590 600
HGYYVKLNAP QHPPVDVEDG DGSSQSSSAL VHKPSANKWS PSKSVTKPVA
610 620 630 640 650
KESKAEPKAK KSELAIPKNP ASNDSCPALE KEANSGPNSI MIVLVMLLNI
660
GLAILFVHFL T
Length:661
Mass (Da):71,686
Last modified:January 17, 2003 - v2
Checksum:iD54DC069174F25B2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053445507T → M.Corresponds to variant rs16938829dbSNPEnsembl.1
Natural variantiVAR_053446624D → H.Corresponds to variant rs16938828dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF110324 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW87029.1.
BC140875 mRNA. Translation: AAI40876.1.
BC140876 mRNA. Translation: AAI40877.1.
AB042635 Genomic DNA. Translation: BAB11986.1.
CCDSiCCDS6217.1.
RefSeqiNP_001304759.1. NM_001317830.1.
NP_065698.1. NM_020647.3.
XP_005251331.1. XM_005251274.3.
XP_005251332.1. XM_005251275.4.
UniGeneiHs.657367.

Genome annotation databases

EnsembliENST00000342232; ENSP00000344488; ENSG00000104369.
GeneIDi56704.
KEGGihsa:56704.
UCSCiuc003yae.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF110324 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW87029.1.
BC140875 mRNA. Translation: AAI40876.1.
BC140876 mRNA. Translation: AAI40877.1.
AB042635 Genomic DNA. Translation: BAB11986.1.
CCDSiCCDS6217.1.
RefSeqiNP_001304759.1. NM_001317830.1.
NP_065698.1. NM_020647.3.
XP_005251331.1. XM_005251274.3.
XP_005251332.1. XM_005251275.4.
UniGeneiHs.657367.

3D structure databases

ProteinModelPortaliQ9HDC5.
SMRiQ9HDC5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121191. 46 interactors.
IntActiQ9HDC5. 21 interactors.
STRINGi9606.ENSP00000344488.

PTM databases

iPTMnetiQ9HDC5.
PhosphoSitePlusiQ9HDC5.

Polymorphism and mutation databases

BioMutaiJPH1.
DMDMi27805492.

Proteomic databases

EPDiQ9HDC5.
MaxQBiQ9HDC5.
PaxDbiQ9HDC5.
PeptideAtlasiQ9HDC5.
PRIDEiQ9HDC5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342232; ENSP00000344488; ENSG00000104369.
GeneIDi56704.
KEGGihsa:56704.
UCSCiuc003yae.4. human.

Organism-specific databases

CTDi56704.
DisGeNETi56704.
GeneCardsiJPH1.
H-InvDBHIX0025565.
HGNCiHGNC:14201. JPH1.
HPAiCAB013461.
HPA008996.
HPA009413.
MIMi605266. gene.
neXtProtiNX_Q9HDC5.
OpenTargetsiENSG00000104369.
PharmGKBiPA29998.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110639.
HOGENOMiHOG000264244.
HOVERGENiHBG031648.
InParanoidiQ9HDC5.
KOiK19530.
OMAiHPPEDME.
OrthoDBiEOG091G03WX.
PhylomeDBiQ9HDC5.
TreeFamiTF317210.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104369-MONOMER.

Miscellaneous databases

GeneWikiiJPH1.
GenomeRNAii56704.
PROiQ9HDC5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104369.
CleanExiHS_JPH1.
ExpressionAtlasiQ9HDC5. baseline and differential.
GenevisibleiQ9HDC5. 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 nameiJPH1_HUMAN
AccessioniPrimary (citable) accession number: Q9HDC5
Secondary accession number(s): B2RTZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: November 30, 2016
This is version 122 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.