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Protein

Junctophilin-1

Gene

JPH1

Organism
Homo sapiens (Human)
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.

GO - Molecular functioni

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

GO - Biological processi

Protein family/group databases

TCDBi8.A.110.1.1 the junctophilin (jp) family

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

EuPathDBiHostDB:ENSG00000104369.4
HGNCiHGNC:14201 JPH1
MIMi605266 gene
neXtProtiNX_Q9HDC5

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 – 639CytoplasmicSequence analysisAdd BLAST639
Transmembranei640 – 660Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi56704
MalaCardsiJPH1
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
ProteomicsDBi81850

PTM databases

CarbonylDBiQ9HDC5
iPTMnetiQ9HDC5
PhosphoSitePlusiQ9HDC5

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000104369 Expressed in 160 organ(s), highest expression level in quadriceps femoris
CleanExiHS_JPH1
ExpressionAtlasiQ9HDC5 baseline and differential
GenevisibleiQ9HDC5 HS

Organism-specific databases

HPAiCAB013461
HPA008996
HPA009413

Interactioni

Protein-protein interaction databases

BioGridi121191, 50 interactors
IntActiQ9HDC5, 36 interactors
MINTiQ9HDC5
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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00730000110639
HOGENOMiHOG000264244
HOVERGENiHBG031648
InParanoidiQ9HDC5
KOiK19530
OMAiPNFYQPG
OrthoDBiEOG091G03WX
PhylomeDBiQ9HDC5
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

Sequence (1+)i

Sequence statusi: Complete.

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

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RHU9E5RHU9_HUMAN
Junctophilin-1
JPH1
79Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053445507T → M. Corresponds to variant dbSNP:rs16938829Ensembl.1
Natural variantiVAR_053446624D → H. Corresponds to variant dbSNP:rs16938828Ensembl.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

Similar proteinsi

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, 50 interactors
IntActiQ9HDC5, 36 interactors
MINTiQ9HDC5
STRINGi9606.ENSP00000344488

Protein family/group databases

TCDBi8.A.110.1.1 the junctophilin (jp) family

PTM databases

CarbonylDBiQ9HDC5
iPTMnetiQ9HDC5
PhosphoSitePlusiQ9HDC5

Polymorphism and mutation databases

BioMutaiJPH1
DMDMi27805492

Proteomic databases

EPDiQ9HDC5
MaxQBiQ9HDC5
PaxDbiQ9HDC5
PeptideAtlasiQ9HDC5
PRIDEiQ9HDC5
ProteomicsDBi81850

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi56704
DisGeNETi56704
EuPathDBiHostDB:ENSG00000104369.4
GeneCardsiJPH1
H-InvDBiHIX0025565
HGNCiHGNC:14201 JPH1
HPAiCAB013461
HPA008996
HPA009413
MalaCardsiJPH1
MIMi605266 gene
neXtProtiNX_Q9HDC5
OpenTargetsiENSG00000104369
PharmGKBiPA29998
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiJPH1 human
GeneWikiiJPH1
GenomeRNAii56704
PROiPR:Q9HDC5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104369 Expressed in 160 organ(s), highest expression level in quadriceps femoris
CleanExiHS_JPH1
ExpressionAtlasiQ9HDC5 baseline and differential
GenevisibleiQ9HDC5 HS

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 nameiJPH1_HUMAN
AccessioniPrimary (citable) accession number: Q9HDC5
Secondary accession number(s): B2RTZ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: November 7, 2018
This is version 136 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 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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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