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Q8WXH2 (JPH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Junctophilin-3

Short name=JP-3
Alternative name(s):
Junctophilin type 3
Trinucleotide repeat-containing gene 22 protein
Gene names
Name:JPH3
Synonyms:JP3, TNRC22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length748 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

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.

Tissue specificity

Specifically expressed in brain. Ref.1

Domain

The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids By similarity.

Polymorphism

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.

Involvement in disease

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. Ref.5 Ref.6

Sequence similarities

Belongs to the junctophilin family.

Contains 8 MORN repeats.

Ontologies

Keywords
   Cellular componentCell membrane
Endoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
Triplet repeat expansion
   DomainRepeat
Transmembrane
Transmembrane helix
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium ion transmembrane transport

Inferred from electronic annotation. Source: GOC

calcium ion transport into cytosol

Traceable author statement PubMed 19095005. Source: BHF-UCL

exploration behavior

Inferred from electronic annotation. Source: Ensembl

learning

Inferred from electronic annotation. Source: Ensembl

locomotion

Inferred from electronic annotation. Source: Ensembl

memory

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

regulation of neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

regulation of ryanodine-sensitive calcium-release channel activity

Traceable author statement PubMed 19095005. Source: BHF-UCL

   Cellular_componentintegral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

junctional membrane complex

Inferred from electronic annotation. Source: Ensembl

junctional sarcoplasmic reticulum membrane

Traceable author statement PubMed 19095005. Source: BHF-UCL

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncalcium-release channel activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

STK24Q9Y6E01EBI-1055254,EBI-740175

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q8WXH2-1)

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.
Isoform 2 (identifier: Q8WXH2-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 748748Junctophilin-3
PRO_0000159850

Regions

Topological domain1 – 727727Cytoplasmic Potential
Transmembrane728 – 74821Helical; Anchor for type IV membrane protein; Potential
Repeat15 – 3723MORN 1
Repeat39 – 6022MORN 2
Repeat61 – 8222MORN 3
Repeat83 – 10523MORN 4
Repeat107 – 12923MORN 5
Repeat130 – 15223MORN 6
Repeat288 – 31023MORN 7
Repeat311 – 33323MORN 8
Compositional bias4 – 143140Gly-rich
Compositional bias366 – 41651Ala-rich

Amino acid modifications

Modified residue5061Phosphoserine By similarity

Natural variations

Alternative sequence128 – 18861GTYQG…AVAGS → DATAFGAEPGPEARELPAAA AAAAAAAAAAAAVRWFLCRE PWPALQLPACLDSPISTPQC T in isoform 2.
VSP_002787
Alternative sequence189 – 748560Missing in isoform 2.
VSP_002788
Natural variant3761I → T. Ref.3
Corresponds to variant rs17857118 [ dbSNP | Ensembl ].
VAR_032494
Natural variant4721P → T. Ref.3
Corresponds to variant rs17853660 [ dbSNP | Ensembl ].
VAR_032495
Natural variant6451P → L. Ref.3
Corresponds to variant rs17853661 [ dbSNP | Ensembl ].
VAR_032496

Experimental info

Sequence conflict1761A → P in BAB11983. Ref.1
Sequence conflict1861A → D in BAB11983. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 17, 2003. Version 2.
Checksum: B88E5065FD7BCD02

FASTA74881,469
        10         20         30         40         50         60 
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT 

        70         80         90        100        110        120 
YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC AGNGAKYEGT WSNGLQDGYG 

       130        140        150        160        170        180 
TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY GMAAVIRSPL RTSINSLRSE HTNGTALHPD 

       190        200        210        220        230        240 
ASPAVAGSPA VSRGGFVLVA HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK 

       250        260        270        280        290        300 
QSSFRSEAGM STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF 

       310        320        330        340        350        360 
GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN LIPLRASKIR 

       370        380        390        400        410        420 
EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT AAQKAQEEAR IARITAKEFS 

       430        440        450        460        470        480 
PSFQHRENGL EYQRPKRQTS CDDIEVLSTG TPLQQESPEL YRKGTTPSDL TPDDSPLQSF 

       490        500        510        520        530        540 
PTSPAATPPP APAARNKVAH FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR 

       550        560        570        580        590        600 
GVRSGALRGG LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL 

       610        620        630        640        650        660 
LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF GVQRLRSKAQ 

       670        680        690        700        710        720 
NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP QKSLPVALES DEENGDELKS 

       730        740 
STGSAPILVV MVILLNIGVA ILFINFFI 

« Hide

Isoform 2 [UniParc].

Checksum: 1B7895E8FDFB4310
Show »

FASTA18819,766

References

« Hide 'large scale' references
[1]"Characterization of human junctophilin subtype genes."
Nishi M., Mizushima A., Nakagawara K., Takeshima H.
Biochem. Biophys. Res. Commun. 273:920-927(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Brain.
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Huntington's disease-like 2 can present as chorea-acanthocytosis."
Walker R.H., Rasmussen A., Rudnicki D., Holmes S.E., Alonso E., Matsuura T., Ashizawa T., Davidoff-Feldman B., Margolis R.L.
Neurology 61:1002-1004(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HDL2.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_065706.2. NM_020655.3.
UniGeneHs.592068.
Hs.733790.

3D structure databases

ProteinModelPortalQ8WXH2.
SMRQ8WXH2. Positions 7-151, 287-344.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121492. 3 interactions.
IntActQ8WXH2. 1 interaction.
MINTMINT-1208946.
STRING9606.ENSP00000284262.

PTM databases

PhosphoSiteQ8WXH2.

Polymorphism databases

DMDM27805485.

Proteomic databases

PaxDbQ8WXH2.
PRIDEQ8WXH2.

Protocols and materials databases

DNASU57338.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284262; ENSP00000284262; ENSG00000154118. [Q8WXH2-1]
GeneID57338.
KEGGhsa:57338.
UCSCuc002fkd.4. human. [Q8WXH2-1]

Organism-specific databases

CTD57338.
GeneCardsGC16P087636.
H-InvDBHIX0013325.
HGNCHGNC:14203. JPH3.
HPAHPA026958.
MIM605268. gene.
606438. phenotype.
neXtProtNX_Q8WXH2.
Orphanet98934. Huntington disease-like 2.
PharmGKBPA30000.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324165.
HOGENOMHOG000264244.
HOVERGENHBG031648.
InParanoidQ8WXH2.
OMAHPQKRRY.
OrthoDBEOG7J4463.
PhylomeDBQ8WXH2.
TreeFamTF317210.

Gene expression databases

ArrayExpressQ8WXH2.
BgeeQ8WXH2.
CleanExHS_JPH3.
GenevestigatorQ8WXH2.

Family and domain databases

InterProIPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view]
PfamPF02493. MORN. 8 hits.
[Graphical view]
PIRSFPIRSF037387. Junctophilin. 1 hit.
SMARTSM00698. MORN. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSJPH3. human.
GeneWikiJPH3.
GenomeRNAi57338.
NextBio63460.
PROQ8WXH2.
SOURCESearch...

Entry information

Entry nameJPH3_HUMAN
AccessionPrimary (citable) accession number: Q8WXH2
Secondary accession number(s): D3DUN2 expand/collapse secondary AC list , Q8N471, Q9HDC3, Q9HDC4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: January 17, 2003
Last modified: March 19, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM