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Q8WXH2

- JPH3_HUMAN

UniProt

Q8WXH2 - JPH3_HUMAN

Protein

Junctophilin-3

Gene

JPH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (17 Jan 2003)
      Previous versions | rss
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    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

    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 By similarity; Peripheral membrane protein By similarity. Endoplasmic reticulum membrane By similarity; 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.By similarity

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

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

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei506 – 5061PhosphoserineBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 727727CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei728 – 74821Helical; Anchor for type IV membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 143140Gly-richAdd
    BLAST
    Compositional biasi366 – 41651Ala-richAdd
    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.Curated
    Contains 8 MORN repeats.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti176 – 1761A → P in BAB11983. (PubMed:10891348)Curated
    Sequence conflicti186 – 1861A → D in BAB11983. (PubMed:10891348)Curated

    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. CuratedVSP_002787Add
    BLAST
    Alternative sequencei189 – 748560Missing in isoform 2. CuratedVSP_002788Add
    BLAST

    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

    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: October 1, 2014
    This is version 121 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