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Q8WXH2

- JPH3_HUMAN

UniProt

Q8WXH2 - JPH3_HUMAN

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Protein

Junctophilin-3

Gene

JPH3

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 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-KW
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.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

BgeeiQ8WXH2.
CleanExiHS_JPH3.
ExpressionAtlasiQ8WXH2. baseline and differential.
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.
GeneTreeiENSGT00730000110639.
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

        10         20         30         40         50
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL
60 70 80 90 100
GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC
110 120 130 140 150
AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY
160 170 180 190 200
GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA
210 220 230 240 250
HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM
260 270 280 290 300
STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF
310 320 330 340 350
GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN
360 370 380 390 400
LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT
410 420 430 440 450
AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG
460 470 480 490 500
TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH
510 520 530 540 550
FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG
560 570 580 590 600
LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL
610 620 630 640 650
LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF
660 670 680 690 700
GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP
710 720 730 740
QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI
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.
GeneTreei ENSGT00730000110639.
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

Bgeei Q8WXH2.
CleanExi HS_JPH3.
ExpressionAtlasi Q8WXH2. baseline and differential.
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: October 29, 2014
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 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