UniProtKB - Q8WXH2 (JPH3_HUMAN)
Protein
Junctophilin-3
Gene
JPH3
Organism
Homo sapiens (Human)
Status
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 - Biological processi
- calcium ion transport into cytosol Source: BHF-UCL
- exploration behavior Source: Ensembl
- learning Source: Ensembl
- locomotion Source: Ensembl
- memory Source: Ensembl
- neuromuscular process controlling balance Source: Ensembl
- regulation of neuronal synaptic plasticity Source: Ensembl
- regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
- regulation of synaptic plasticity Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q8WXH2 |
Names & Taxonomyi
Protein namesi | Recommended name: Junctophilin-3Short name: JP-3 Alternative name(s): Junctophilin type 3 Trinucleotide repeat-containing gene 22 protein |
Gene namesi | Name:JPH3 Synonyms:JP3, TNRC22 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14203, JPH3 |
MIMi | 605268, gene |
neXtProti | NX_Q8WXH2 |
VEuPathDBi | HostDB:ENSG00000154118.12 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass type IV membrane protein By similarity
Plasma membrane
- Cell membrane By similarity; Peripheral 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
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: GO_Central
- junctional sarcoplasmic reticulum membrane Source: BHF-UCL
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB
- junctional membrane complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 727 | CytoplasmicSequence analysisAdd BLAST | 727 | |
Transmembranei | 728 – 748 | Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Huntington disease-like 2 (HDL2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionHuntington 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 57338 |
GeneReviewsi | JPH3 |
MalaCardsi | JPH3 |
MIMi | 606438, phenotype |
OpenTargetsi | ENSG00000154118 |
Orphaneti | 98934, Huntington disease-like 2 |
PharmGKBi | PA30000 |
Miscellaneous databases
Pharosi | Q8WXH2, Tbio |
Genetic variation databases
BioMutai | JPH3 |
DMDMi | 27805485 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000159850 | 1 – 748 | Junctophilin-3Add BLAST | 748 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 440 | PhosphoserineBy similarity | 1 | |
Modified residuei | 451 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 457 | PhosphoserineBy similarity | 1 | |
Modified residuei | 471 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 475 | PhosphoserineBy similarity | 1 | |
Modified residuei | 506 | PhosphoserineBy similarity | 1 | |
Modified residuei | 703 | PhosphoserineBy similarity | 1 | |
Modified residuei | 710 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q8WXH2 |
PaxDbi | Q8WXH2 |
PeptideAtlasi | Q8WXH2 |
PRIDEi | Q8WXH2 |
ProteomicsDBi | 75053 [Q8WXH2-1] 75054 [Q8WXH2-2] |
PTM databases
iPTMneti | Q8WXH2 |
PhosphoSitePlusi | Q8WXH2 |
Expressioni
Tissue specificityi
Specifically expressed in brain.1 Publication
Gene expression databases
Bgeei | ENSG00000154118, Expressed in dorsolateral prefrontal cortex and 119 other tissues |
Genevisiblei | Q8WXH2, HS |
Organism-specific databases
HPAi | ENSG00000154118, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Q8WXH2
Protein-protein interaction databases
BioGRIDi | 121492, 8 interactors |
IntActi | Q8WXH2, 210 interactors |
MINTi | Q8WXH2 |
STRINGi | 9606.ENSP00000284262 |
Miscellaneous databases
RNActi | Q8WXH2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 15 – 37 | MORN 1Add BLAST | 23 | |
Repeati | 39 – 60 | MORN 2Add BLAST | 22 | |
Repeati | 61 – 82 | MORN 3Add BLAST | 22 | |
Repeati | 83 – 105 | MORN 4Add BLAST | 23 | |
Repeati | 107 – 129 | MORN 5Add BLAST | 23 | |
Repeati | 130 – 152 | MORN 6Add BLAST | 23 | |
Repeati | 288 – 310 | MORN 7Add BLAST | 23 | |
Repeati | 311 – 333 | MORN 8Add BLAST | 23 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 4 – 143 | Gly-richAdd BLAST | 140 | |
Compositional biasi | 366 – 416 | Ala-richAdd BLAST | 51 |
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 helixPhylogenomic databases
eggNOGi | KOG0231, Eukaryota |
GeneTreei | ENSGT00940000158707 |
HOGENOMi | CLU_008078_2_0_1 |
InParanoidi | Q8WXH2 |
OMAi | GRKQPGN |
PhylomeDBi | Q8WXH2 |
TreeFami | TF317210 |
Family and domain databases
InterProi | View protein in InterPro IPR017191, Junctophilin IPR003409, MORN |
PANTHERi | PTHR23085, PTHR23085, 2 hits |
Pfami | View protein in Pfam PF02493, MORN, 8 hits |
PIRSFi | PIRSF037387, Junctophilin, 1 hit |
SMARTi | View protein in SMART SM00698, MORN, 7 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
Isoform 1 (identifier: Q8WXH2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 176 | A → P in BAB11983 (PubMed:10891348).Curated | 1 | |
Sequence conflicti | 186 | A → D in BAB11983 (PubMed:10891348).Curated | 1 |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032494 | 376 | I → T1 PublicationCorresponds to variant dbSNP:rs17857118Ensembl. | 1 | |
Natural variantiVAR_032495 | 472 | P → T1 PublicationCorresponds to variant dbSNP:rs17853660Ensembl. | 1 | |
Natural variantiVAR_032496 | 645 | P → L1 PublicationCorresponds to variant dbSNP:rs17853661Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002787 | 128 – 188 | GTYQG…AVAGS → DATAFGAEPGPEARELPAAA AAAAAAAAAAAAVRWFLCRE PWPALQLPACLDSPISTPQC T in isoform 2. CuratedAdd BLAST | 61 | |
Alternative sequenceiVSP_002788 | 189 – 748 | Missing in isoform 2. CuratedAdd BLAST | 560 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
Genome annotation databases
Ensembli | ENST00000284262; ENSP00000284262; ENSG00000154118 [Q8WXH2-1] |
GeneIDi | 57338 |
KEGGi | hsa:57338 |
UCSCi | uc002fkd.5, human [Q8WXH2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Triplet repeat expansionSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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] |
3D structure databases
SMRi | Q8WXH2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121492, 8 interactors |
IntActi | Q8WXH2, 210 interactors |
MINTi | Q8WXH2 |
STRINGi | 9606.ENSP00000284262 |
PTM databases
iPTMneti | Q8WXH2 |
PhosphoSitePlusi | Q8WXH2 |
Genetic variation databases
BioMutai | JPH3 |
DMDMi | 27805485 |
Proteomic databases
MassIVEi | Q8WXH2 |
PaxDbi | Q8WXH2 |
PeptideAtlasi | Q8WXH2 |
PRIDEi | Q8WXH2 |
ProteomicsDBi | 75053 [Q8WXH2-1] 75054 [Q8WXH2-2] |
Protocols and materials databases
Antibodypediai | 17225, 183 antibodies |
DNASUi | 57338 |
Genome annotation databases
Ensembli | ENST00000284262; ENSP00000284262; ENSG00000154118 [Q8WXH2-1] |
GeneIDi | 57338 |
KEGGi | hsa:57338 |
UCSCi | uc002fkd.5, human [Q8WXH2-1] |
Organism-specific databases
CTDi | 57338 |
DisGeNETi | 57338 |
GeneCardsi | JPH3 |
GeneReviewsi | JPH3 |
HGNCi | HGNC:14203, JPH3 |
HPAi | ENSG00000154118, Tissue enriched (brain) |
MalaCardsi | JPH3 |
MIMi | 605268, gene 606438, phenotype |
neXtProti | NX_Q8WXH2 |
OpenTargetsi | ENSG00000154118 |
Orphaneti | 98934, Huntington disease-like 2 |
PharmGKBi | PA30000 |
VEuPathDBi | HostDB:ENSG00000154118.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0231, Eukaryota |
GeneTreei | ENSGT00940000158707 |
HOGENOMi | CLU_008078_2_0_1 |
InParanoidi | Q8WXH2 |
OMAi | GRKQPGN |
PhylomeDBi | Q8WXH2 |
TreeFami | TF317210 |
Enzyme and pathway databases
PathwayCommonsi | Q8WXH2 |
Miscellaneous databases
BioGRID-ORCSi | 57338, 4 hits in 874 CRISPR screens |
ChiTaRSi | JPH3, human |
GeneWikii | JPH3 |
GenomeRNAii | 57338 |
Pharosi | Q8WXH2, Tbio |
PROi | PR:Q8WXH2 |
RNActi | Q8WXH2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000154118, Expressed in dorsolateral prefrontal cortex and 119 other tissues |
Genevisiblei | Q8WXH2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017191, Junctophilin IPR003409, MORN |
PANTHERi | PTHR23085, PTHR23085, 2 hits |
Pfami | View protein in Pfam PF02493, MORN, 8 hits |
PIRSFi | PIRSF037387, Junctophilin, 1 hit |
SMARTi | View protein in SMART SM00698, MORN, 7 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | JPH3_HUMAN | |
Accessioni | Q8WXH2Primary (citable) accession number: Q8WXH2 Secondary accession number(s): D3DUN2 Q9HDC4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 17, 2003 |
Last sequence update: | January 17, 2003 | |
Last modified: | February 10, 2021 | |
This is version 170 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families