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Q8WXH2

- JPH3_HUMAN

UniProt

Q8WXH2 - JPH3_HUMAN

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Protein
Junctophilin-3
Gene
JPH3, JP3, TNRC22
Organism
Homo sapiens (Human)
Status
Reviewed - 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. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.

GO - Molecular functioni

  1. calcium-release channel activity Source: Ensembl

GO - Biological processi

  1. calcium ion transport into cytosol Source: BHF-UCL
  2. exploration behavior Source: Ensembl
  3. learning Source: Ensembl
  4. locomotion Source: Ensembl
  5. memory Source: Ensembl
  6. neuromuscular process controlling balance Source: Ensembl
  7. regulation of neuronal synaptic plasticity Source: Ensembl
  8. regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Junctophilin-3
Short name:
JP-3
Alternative name(s):
Junctophilin type 3
Trinucleotide repeat-containing gene 22 protein
Gene namesi
Name:JPH3
Synonyms:JP3, TNRC22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:14203. JPH3.

Subcellular locationi

Cell membrane; Peripheral membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass type IV membrane protein By similarity
Note: Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 727727Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei728 – 74821Helical; Anchor for type IV membrane protein; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. junctional membrane complex Source: Ensembl
  3. junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  4. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Huntington disease-like 2 (HDL2) [MIM:606438]: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Organism-specific databases

MIMi606438. phenotype.
Orphaneti98934. Huntington disease-like 2.
PharmGKBiPA30000.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 748748Junctophilin-3
PRO_0000159850Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei506 – 5061Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8WXH2.
PRIDEiQ8WXH2.

PTM databases

PhosphoSiteiQ8WXH2.

Expressioni

Tissue specificityi

Specifically expressed in brain.1 Publication

Gene expression databases

ArrayExpressiQ8WXH2.
BgeeiQ8WXH2.
CleanExiHS_JPH3.
GenevestigatoriQ8WXH2.

Organism-specific databases

HPAiHPA026958.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
STK24Q9Y6E01EBI-1055254,EBI-740175

Protein-protein interaction databases

BioGridi121492. 3 interactions.
IntActiQ8WXH2. 1 interaction.
MINTiMINT-1208946.
STRINGi9606.ENSP00000284262.

Structurei

3D structure databases

ProteinModelPortaliQ8WXH2.
SMRiQ8WXH2. Positions 7-151, 287-344.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati15 – 3723MORN 1
Add
BLAST
Repeati39 – 6022MORN 2
Add
BLAST
Repeati61 – 8222MORN 3
Add
BLAST
Repeati83 – 10523MORN 4
Add
BLAST
Repeati107 – 12923MORN 5
Add
BLAST
Repeati130 – 15223MORN 6
Add
BLAST
Repeati288 – 31023MORN 7
Add
BLAST
Repeati311 – 33323MORN 8
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4 – 143140Gly-rich
Add
BLAST
Compositional biasi366 – 41651Ala-rich
Add
BLAST

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.
Contains 8 MORN repeats.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG324165.
HOGENOMiHOG000264244.
HOVERGENiHBG031648.
InParanoidiQ8WXH2.
OMAiHPQKRRY.
OrthoDBiEOG7J4463.
PhylomeDBiQ8WXH2.
TreeFamiTF317210.

Family and domain databases

InterProiIPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view]
PfamiPF02493. MORN. 8 hits.
[Graphical view]
PIRSFiPIRSF037387. Junctophilin. 1 hit.
SMARTiSM00698. MORN. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q8WXH2-1) [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

MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL    50
GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC 100
AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY 150
GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA 200
HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM 250
STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF 300
GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN 350
LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT 400
AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG 450
TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH 500
FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG 550
LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL 600
LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF 650
GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP 700
QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI 748
Length:748
Mass (Da):81,469
Last modified:January 17, 2003 - v2
Checksum:iB88E5065FD7BCD02
GO
Isoform 2 (identifier: Q8WXH2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-188: GTYQGQWVGG...PDASPAVAGS → DATAFGAEPG...DSPISTPQCT
     189-748: Missing.

Show »
Length:188
Mass (Da):19,766
Checksum:i1B7895E8FDFB4310
GO

Polymorphismi

Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti376 – 3761I → T.1 Publication
Corresponds to variant rs17857118 [ dbSNP | Ensembl ].
VAR_032494
Natural varianti472 – 4721P → T.1 Publication
Corresponds to variant rs17853660 [ dbSNP | Ensembl ].
VAR_032495
Natural varianti645 – 6451P → L.1 Publication
Corresponds to variant rs17853661 [ dbSNP | Ensembl ].
VAR_032496

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei128 – 18861GTYQG…AVAGS → DATAFGAEPGPEARELPAAA AAAAAAAAAAAAVRWFLCRE PWPALQLPACLDSPISTPQC T in isoform 2.
VSP_002787Add
BLAST
Alternative sequencei189 – 748560Missing in isoform 2.
VSP_002788Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti176 – 1761A → P in BAB11983. 1 Publication
Sequence conflicti186 – 1861A → D in BAB11983. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB042636 mRNA. Translation: BAB11983.1.
AB042640 Genomic DNA. Translation: BAB11987.1.
CH471114 Genomic DNA. Translation: EAW95386.1.
CH471114 Genomic DNA. Translation: EAW95387.1.
BC036533 mRNA. Translation: AAH36533.1.
AF429315 Genomic DNA. Translation: AAL40941.1.
BE042890 mRNA. No translation available.
CCDSiCCDS10962.1. [Q8WXH2-1]
RefSeqiNP_065706.2. NM_020655.3. [Q8WXH2-1]
UniGeneiHs.592068.
Hs.733790.

Genome annotation databases

EnsembliENST00000284262; ENSP00000284262; ENSG00000154118. [Q8WXH2-1]
GeneIDi57338.
KEGGihsa:57338.
UCSCiuc002fkd.4. human. [Q8WXH2-1]

Polymorphism databases

DMDMi27805485.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB042636 mRNA. Translation: BAB11983.1 .
AB042640 Genomic DNA. Translation: BAB11987.1 .
CH471114 Genomic DNA. Translation: EAW95386.1 .
CH471114 Genomic DNA. Translation: EAW95387.1 .
BC036533 mRNA. Translation: AAH36533.1 .
AF429315 Genomic DNA. Translation: AAL40941.1 .
BE042890 mRNA. No translation available.
CCDSi CCDS10962.1. [Q8WXH2-1 ]
RefSeqi NP_065706.2. NM_020655.3. [Q8WXH2-1 ]
UniGenei Hs.592068.
Hs.733790.

3D structure databases

ProteinModelPortali Q8WXH2.
SMRi Q8WXH2. Positions 7-151, 287-344.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121492. 3 interactions.
IntActi Q8WXH2. 1 interaction.
MINTi MINT-1208946.
STRINGi 9606.ENSP00000284262.

PTM databases

PhosphoSitei Q8WXH2.

Polymorphism databases

DMDMi 27805485.

Proteomic databases

PaxDbi Q8WXH2.
PRIDEi Q8WXH2.

Protocols and materials databases

DNASUi 57338.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284262 ; ENSP00000284262 ; ENSG00000154118 . [Q8WXH2-1 ]
GeneIDi 57338.
KEGGi hsa:57338.
UCSCi uc002fkd.4. human. [Q8WXH2-1 ]

Organism-specific databases

CTDi 57338.
GeneCardsi GC16P087636.
GeneReviewsi JPH3.
H-InvDB HIX0013325.
HGNCi HGNC:14203. JPH3.
HPAi HPA026958.
MIMi 605268. gene.
606438. phenotype.
neXtProti NX_Q8WXH2.
Orphaneti 98934. Huntington disease-like 2.
PharmGKBi PA30000.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324165.
HOGENOMi HOG000264244.
HOVERGENi HBG031648.
InParanoidi Q8WXH2.
OMAi HPQKRRY.
OrthoDBi EOG7J4463.
PhylomeDBi Q8WXH2.
TreeFami TF317210.

Miscellaneous databases

ChiTaRSi JPH3. human.
GeneWikii JPH3.
GenomeRNAii 57338.
NextBioi 63460.
PROi Q8WXH2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8WXH2.
Bgeei Q8WXH2.
CleanExi HS_JPH3.
Genevestigatori Q8WXH2.

Family and domain databases

InterProi IPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view ]
Pfami PF02493. MORN. 8 hits.
[Graphical view ]
PIRSFi PIRSF037387. Junctophilin. 1 hit.
SMARTi SM00698. MORN. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-376; THR-472 AND LEU-645.
    Tissue: Brain.
  4. "A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2."
    Holmes S.E., O'Hearn E., Rosenblatt A., Callahan C., Hwang H.S., Ingersoll-Ashworth R.G., Fleisher A., Stevanin G., Brice A., Potter N.T., Ross C.A., Margolis R.L.
    Nat. Genet. 29:377-378(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-127, IDENTIFICATION (ISOFORM 2), POLYMORPHISM OF POLY-ALA REGION (ISOFORM 2).
  5. "CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients."
    Stevanin G., Camuzat A., Holmes S.E., Julien C., Sahloul R., Dode C., Hahn-Barma V., Ross C.A., Margolis R.L., Durr A., Brice A.
    Neurology 58:965-967(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HDL2.
  6. Cited for: INVOLVEMENT IN HDL2.

Entry informationi

Entry nameiJPH3_HUMAN
AccessioniPrimary (citable) accession number: Q8WXH2
Secondary accession number(s): D3DUN2
, Q8N471, Q9HDC3, Q9HDC4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: July 9, 2014
This is version 120 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 16
    Human chromosome 16: 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

External Data

Dasty 3

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