ID JPH3_HUMAN Reviewed; 748 AA. AC Q8WXH2; D3DUN2; Q8N471; Q9HDC3; Q9HDC4; DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot. DT 17-JAN-2003, sequence version 2. DT 24-JAN-2024, entry version 183. DE RecName: Full=Junctophilin-3; DE Short=JP-3; DE AltName: Full=Junctophilin type 3; DE AltName: Full=Trinucleotide repeat-containing gene 22 protein; GN Name=JPH3; Synonyms=JP3, TNRC22; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE RP SPECIFICITY. RC TISSUE=Brain; RX PubMed=10891348; DOI=10.1006/bbrc.2000.3011; RA Nishi M., Mizushima A., Nakagawara K., Takeshima H.; RT "Characterization of human junctophilin subtype genes."; RL Biochem. Biophys. Res. Commun. 273:920-927(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-376; RP THR-472 AND LEU-645. RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-127, IDENTIFICATION (ISOFORM 2), AND RP POLYMORPHISM OF POLY-ALA REGION (ISOFORM 2). RX PubMed=11694876; DOI=10.1038/ng760; RA Holmes S.E., O'Hearn E., Rosenblatt A., Callahan C., Hwang H.S., RA Ingersoll-Ashworth R.G., Fleisher A., Stevanin G., Brice A., Potter N.T., RA Ross C.A., Margolis R.L.; RT "A repeat expansion in the gene encoding junctophilin-3 is associated with RT Huntington disease-like 2."; RL Nat. Genet. 29:377-378(2001). RN [5] RP INVOLVEMENT IN HDL2. RX PubMed=11914418; DOI=10.1212/wnl.58.6.965; RA Stevanin G., Camuzat A., Holmes S.E., Julien C., Sahloul R., Dode C., RA Hahn-Barma V., Ross C.A., Margolis R.L., Durr A., Brice A.; RT "CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are RT rare in Huntington's disease patients."; RL Neurology 58:965-967(2002). RN [6] RP INVOLVEMENT IN HDL2. RX PubMed=14557581; DOI=10.1212/01.wnl.0000085866.68470.6d; RA Walker R.H., Rasmussen A., Rudnicki D., Holmes S.E., Alonso E., RA Matsuura T., Ashizawa T., Davidoff-Feldman B., Margolis R.L.; RT "Huntington's disease-like 2 can present as chorea-acanthocytosis."; RL Neurology 61:1002-1004(2003). CC -!- FUNCTION: Junctophilins contribute to the formation of junctional CC membrane complexes (JMCs) which link the plasma membrane with the CC endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a CC structural foundation for functional cross-talk between the cell CC surface and intracellular calcium release channels. JPH3 is brain- CC specific and appears to have an active role in certain neurons involved CC in motor coordination and memory. CC -!- INTERACTION: CC Q8WXH2; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-1055254, EBI-11096309; CC Q8WXH2; Q6H8Q1-8: ABLIM2; NbExp=3; IntAct=EBI-1055254, EBI-16436655; CC Q8WXH2; Q9UIJ7: AK3; NbExp=3; IntAct=EBI-1055254, EBI-3916527; CC Q8WXH2; P00352: ALDH1A1; NbExp=3; IntAct=EBI-1055254, EBI-752170; CC Q8WXH2; Q6PG48: ANKRD12; NbExp=3; IntAct=EBI-1055254, EBI-12304341; CC Q8WXH2; Q6ZTN6-2: ANKRD13D; NbExp=3; IntAct=EBI-1055254, EBI-25840993; CC Q8WXH2; P63010-2: AP2B1; NbExp=3; IntAct=EBI-1055254, EBI-11529439; CC Q8WXH2; Q9Y575-3: ASB3; NbExp=3; IntAct=EBI-1055254, EBI-14199987; CC Q8WXH2; Q96DX5: ASB9; NbExp=3; IntAct=EBI-1055254, EBI-745641; CC Q8WXH2; Q96DX5-3: ASB9; NbExp=3; IntAct=EBI-1055254, EBI-25843552; CC Q8WXH2; Q8WXF7: ATL1; NbExp=3; IntAct=EBI-1055254, EBI-2410266; CC Q8WXH2; P21281: ATP6V1B2; NbExp=3; IntAct=EBI-1055254, EBI-4290814; CC Q8WXH2; Q9UQB8-6: BAIAP2; NbExp=3; IntAct=EBI-1055254, EBI-9092016; CC Q8WXH2; Q16611: BAK1; NbExp=3; IntAct=EBI-1055254, EBI-519866; CC Q8WXH2; O75934: BCAS2; NbExp=3; IntAct=EBI-1055254, EBI-1050106; CC Q8WXH2; P21810: BGN; NbExp=3; IntAct=EBI-1055254, EBI-762076; CC Q8WXH2; Q13490: BIRC2; NbExp=3; IntAct=EBI-1055254, EBI-514538; CC Q8WXH2; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-1055254, EBI-2837444; CC Q8WXH2; Q9Y297: BTRC; NbExp=3; IntAct=EBI-1055254, EBI-307461; CC Q8WXH2; Q9NUB4: C20orf141; NbExp=3; IntAct=EBI-1055254, EBI-9088162; CC Q8WXH2; Q5SZD1: C6orf141; NbExp=3; IntAct=EBI-1055254, EBI-10697767; CC Q8WXH2; P62158: CALM3; NbExp=3; IntAct=EBI-1055254, EBI-397435; CC Q8WXH2; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-1055254, EBI-10181422; CC Q8WXH2; A0A024R9H7: CCDC26; NbExp=3; IntAct=EBI-1055254, EBI-10271580; CC Q8WXH2; O00585: CCL21; NbExp=3; IntAct=EBI-1055254, EBI-953695; CC Q8WXH2; P29017: CD1C; NbExp=3; IntAct=EBI-1055254, EBI-2836704; CC Q8WXH2; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-1055254, EBI-396137; CC Q8WXH2; Q7Z7K6: CENPV; NbExp=3; IntAct=EBI-1055254, EBI-1210604; CC Q8WXH2; Q3SX64: CIMAP1D; NbExp=3; IntAct=EBI-1055254, EBI-6660184; CC Q8WXH2; P12532: CKMT1B; NbExp=3; IntAct=EBI-1055254, EBI-1050662; CC Q8WXH2; Q16740: CLPP; NbExp=3; IntAct=EBI-1055254, EBI-1056029; CC Q8WXH2; Q96HD1-2: CRELD1; NbExp=3; IntAct=EBI-1055254, EBI-21536433; CC Q8WXH2; Q8IUI8: CRLF3; NbExp=3; IntAct=EBI-1055254, EBI-2872414; CC Q8WXH2; P35222: CTNNB1; NbExp=3; IntAct=EBI-1055254, EBI-491549; CC Q8WXH2; Q2TBE0: CWF19L2; NbExp=3; IntAct=EBI-1055254, EBI-5453285; CC Q8WXH2; Q9NR63: CYP26B1; NbExp=3; IntAct=EBI-1055254, EBI-25928065; CC Q8WXH2; Q5TAQ9-2: DCAF8; NbExp=3; IntAct=EBI-1055254, EBI-25842815; CC Q8WXH2; P35638: DDIT3; NbExp=3; IntAct=EBI-1055254, EBI-742651; CC Q8WXH2; P17661: DES; NbExp=3; IntAct=EBI-1055254, EBI-1055572; CC Q8WXH2; Q6I9W9: DKFZP586N0721; NbExp=3; IntAct=EBI-1055254, EBI-25927172; CC Q8WXH2; Q96EY1-3: DNAJA3; NbExp=3; IntAct=EBI-1055254, EBI-11526226; CC Q8WXH2; P55039: DRG2; NbExp=3; IntAct=EBI-1055254, EBI-750565; CC Q8WXH2; Q8NEJ0: DUSP18; NbExp=3; IntAct=EBI-1055254, EBI-10698945; CC Q8WXH2; Q92997: DVL3; NbExp=3; IntAct=EBI-1055254, EBI-739789; CC Q8WXH2; O75530-2: EED; NbExp=3; IntAct=EBI-1055254, EBI-11132357; CC Q8WXH2; Q99944: EGFL8; NbExp=3; IntAct=EBI-1055254, EBI-3924130; CC Q8WXH2; O00303: EIF3F; NbExp=3; IntAct=EBI-1055254, EBI-711990; CC Q8WXH2; Q6UXG2-3: ELAPOR1; NbExp=3; IntAct=EBI-1055254, EBI-12920100; CC Q8WXH2; P29323-3: EPHB2; NbExp=3; IntAct=EBI-1055254, EBI-25838727; CC Q8WXH2; Q13216-2: ERCC8; NbExp=3; IntAct=EBI-1055254, EBI-16466949; CC Q8WXH2; Q96DF8: ESS2; NbExp=3; IntAct=EBI-1055254, EBI-3928124; CC Q8WXH2; Q6IPR1: ETFRF1; NbExp=3; IntAct=EBI-1055254, EBI-12292149; CC Q8WXH2; Q9UBQ6: EXTL2; NbExp=3; IntAct=EBI-1055254, EBI-21506125; CC Q8WXH2; O15287: FANCG; NbExp=3; IntAct=EBI-1055254, EBI-81610; CC Q8WXH2; Q53R41: FASTKD1; NbExp=3; IntAct=EBI-1055254, EBI-3957005; CC Q8WXH2; Q8NCQ5: FBXO15; NbExp=3; IntAct=EBI-1055254, EBI-6660598; CC Q8WXH2; P06241-3: FYN; NbExp=3; IntAct=EBI-1055254, EBI-10691738; CC Q8WXH2; P14136: GFAP; NbExp=3; IntAct=EBI-1055254, EBI-744302; CC Q8WXH2; Q9UJY5-4: GGA1; NbExp=3; IntAct=EBI-1055254, EBI-12108696; CC Q8WXH2; P36382: GJA5; NbExp=3; IntAct=EBI-1055254, EBI-750433; CC Q8WXH2; Q8NEA9: GMCL2; NbExp=3; IntAct=EBI-1055254, EBI-745707; CC Q8WXH2; Q13322-4: GRB10; NbExp=3; IntAct=EBI-1055254, EBI-12353035; CC Q8WXH2; Q71DI3: H3C15; NbExp=3; IntAct=EBI-1055254, EBI-750650; CC Q8WXH2; Q8N7T0: hCG_1820408; NbExp=3; IntAct=EBI-1055254, EBI-25858908; CC Q8WXH2; P61978: HNRNPK; NbExp=3; IntAct=EBI-1055254, EBI-304185; CC Q8WXH2; Q00839-2: HNRNPU; NbExp=3; IntAct=EBI-1055254, EBI-351143; CC Q8WXH2; Q96LI6: HSFY2; NbExp=3; IntAct=EBI-1055254, EBI-3957665; CC Q8WXH2; Q8NDH6-2: ICA1L; NbExp=3; IntAct=EBI-1055254, EBI-12141931; CC Q8WXH2; O14920-3: IKBKB; NbExp=3; IntAct=EBI-1055254, EBI-25847993; CC Q8WXH2; Q8N6P7: IL22RA1; NbExp=3; IntAct=EBI-1055254, EBI-3940749; CC Q8WXH2; Q8NA54: IQUB; NbExp=3; IntAct=EBI-1055254, EBI-10220600; CC Q8WXH2; Q96J02-2: ITCH; NbExp=3; IntAct=EBI-1055254, EBI-6672198; CC Q8WXH2; Q6ZU52: KIAA0408; NbExp=3; IntAct=EBI-1055254, EBI-739493; CC Q8WXH2; Q5T5P2-6: KIAA1217; NbExp=3; IntAct=EBI-1055254, EBI-10188326; CC Q8WXH2; P08727: KRT19; NbExp=3; IntAct=EBI-1055254, EBI-742756; CC Q8WXH2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-1055254, EBI-10171774; CC Q8WXH2; Q96PV6: LENG8; NbExp=3; IntAct=EBI-1055254, EBI-739546; CC Q8WXH2; Q6DKI2: LGALS9C; NbExp=3; IntAct=EBI-1055254, EBI-9088829; CC Q8WXH2; Q8N485: LIX1; NbExp=3; IntAct=EBI-1055254, EBI-10694501; CC Q8WXH2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-1055254, EBI-739832; CC Q8WXH2; Q1L5Z9: LONRF2; NbExp=3; IntAct=EBI-1055254, EBI-2510853; CC Q8WXH2; Q14693: LPIN1; NbExp=3; IntAct=EBI-1055254, EBI-5278370; CC Q8WXH2; Q9BX40-2: LSM14B; NbExp=3; IntAct=EBI-1055254, EBI-19133880; CC Q8WXH2; Q8WZA0: LZIC; NbExp=3; IntAct=EBI-1055254, EBI-5774346; CC Q8WXH2; O15480: MAGEB3; NbExp=3; IntAct=EBI-1055254, EBI-21634885; CC Q8WXH2; Q8NA82: MARCHF10; NbExp=3; IntAct=EBI-1055254, EBI-2341554; CC Q8WXH2; O94851: MICAL2; NbExp=3; IntAct=EBI-1055254, EBI-2804835; CC Q8WXH2; A4FUJ8: MKL1; NbExp=3; IntAct=EBI-1055254, EBI-21250407; CC Q8WXH2; Q15049: MLC1; NbExp=3; IntAct=EBI-1055254, EBI-8475277; CC Q8WXH2; Q8N594: MPND; NbExp=3; IntAct=EBI-1055254, EBI-2512452; CC Q8WXH2; Q13405: MRPL49; NbExp=3; IntAct=EBI-1055254, EBI-5325200; CC Q8WXH2; Q9Y3D2: MSRB2; NbExp=3; IntAct=EBI-1055254, EBI-9092052; CC Q8WXH2; Q9Y483-4: MTF2; NbExp=3; IntAct=EBI-1055254, EBI-10698053; CC Q8WXH2; A2RUH7: MYBPHL; NbExp=3; IntAct=EBI-1055254, EBI-9088235; CC Q8WXH2; Q96A32: MYL11; NbExp=3; IntAct=EBI-1055254, EBI-1390771; CC Q8WXH2; Q9NPC7: MYNN; NbExp=3; IntAct=EBI-1055254, EBI-3446748; CC Q8WXH2; Q99457: NAP1L3; NbExp=3; IntAct=EBI-1055254, EBI-8645631; CC Q8WXH2; Q13772-3: NCOA4; NbExp=3; IntAct=EBI-1055254, EBI-12054609; CC Q8WXH2; O75251: NDUFS7; NbExp=3; IntAct=EBI-1055254, EBI-719652; CC Q8WXH2; P56597: NME5; NbExp=3; IntAct=EBI-1055254, EBI-740667; CC Q8WXH2; Q9H6R4: NOL6; NbExp=3; IntAct=EBI-1055254, EBI-2514288; CC Q8WXH2; Q6X4W1-6: NSMF; NbExp=3; IntAct=EBI-1055254, EBI-25842707; CC Q8WXH2; Q9GZU5: NYX; NbExp=3; IntAct=EBI-1055254, EBI-12744849; CC Q8WXH2; Q96FW1: OTUB1; NbExp=3; IntAct=EBI-1055254, EBI-1058491; CC Q8WXH2; Q6GQQ9-2: OTUD7B; NbExp=3; IntAct=EBI-1055254, EBI-25830200; CC Q8WXH2; P32242: OTX1; NbExp=3; IntAct=EBI-1055254, EBI-740446; CC Q8WXH2; Q9H361: PABPC3; NbExp=3; IntAct=EBI-1055254, EBI-1055272; CC Q8WXH2; Q8N7B6-2: PACRGL; NbExp=3; IntAct=EBI-1055254, EBI-10694433; CC Q8WXH2; Q9NR21-5: PARP11; NbExp=3; IntAct=EBI-1055254, EBI-17159452; CC Q8WXH2; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-1055254, EBI-11022007; CC Q8WXH2; Q96AL5: PBX3; NbExp=3; IntAct=EBI-1055254, EBI-741171; CC Q8WXH2; Q9NV79: PCMTD2; NbExp=3; IntAct=EBI-1055254, EBI-6309018; CC Q8WXH2; Q16549: PCSK7; NbExp=3; IntAct=EBI-1055254, EBI-8059854; CC Q8WXH2; Q96HC4: PDLIM5; NbExp=3; IntAct=EBI-1055254, EBI-751267; CC Q8WXH2; O15530-4: PDPK1; NbExp=3; IntAct=EBI-1055254, EBI-9087775; CC Q8WXH2; O15534: PER1; NbExp=3; IntAct=EBI-1055254, EBI-2557276; CC Q8WXH2; Q96FX8: PERP; NbExp=3; IntAct=EBI-1055254, EBI-17183069; CC Q8WXH2; Q8TCD6: PHOSPHO2; NbExp=3; IntAct=EBI-1055254, EBI-2861380; CC Q8WXH2; Q96J94: PIWIL1; NbExp=3; IntAct=EBI-1055254, EBI-527417; CC Q8WXH2; Q6P1J6-2: PLB1; NbExp=3; IntAct=EBI-1055254, EBI-10694821; CC Q8WXH2; Q01453: PMP22; NbExp=3; IntAct=EBI-1055254, EBI-2845982; CC Q8WXH2; Q9NRX1: PNO1; NbExp=3; IntAct=EBI-1055254, EBI-712787; CC Q8WXH2; Q07869: PPARA; NbExp=3; IntAct=EBI-1055254, EBI-78615; CC Q8WXH2; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-1055254, EBI-710402; CC Q8WXH2; Q6ZMI0-5: PPP1R21; NbExp=3; IntAct=EBI-1055254, EBI-25835994; CC Q8WXH2; Q06323: PSME1; NbExp=3; IntAct=EBI-1055254, EBI-712149; CC Q8WXH2; Q14914: PTGR1; NbExp=3; IntAct=EBI-1055254, EBI-2876800; CC Q8WXH2; Q15286: RAB35; NbExp=3; IntAct=EBI-1055254, EBI-722275; CC Q8WXH2; P57729: RAB38; NbExp=3; IntAct=EBI-1055254, EBI-6552718; CC Q8WXH2; Q96QF0-7: RAB3IP; NbExp=3; IntAct=EBI-1055254, EBI-11984839; CC Q8WXH2; Q9NS23-4: RASSF1; NbExp=6; IntAct=EBI-1055254, EBI-438710; CC Q8WXH2; P50749: RASSF2; NbExp=3; IntAct=EBI-1055254, EBI-960081; CC Q8WXH2; Q8WWW0-2: RASSF5; NbExp=3; IntAct=EBI-1055254, EBI-960502; CC Q8WXH2; Q8NHQ8-2: RASSF8; NbExp=3; IntAct=EBI-1055254, EBI-10976415; CC Q8WXH2; P57052: RBM11; NbExp=3; IntAct=EBI-1055254, EBI-741332; CC Q8WXH2; Q8IUH3-3: RBM45; NbExp=3; IntAct=EBI-1055254, EBI-10964453; CC Q8WXH2; Q96PM5-4: RCHY1; NbExp=3; IntAct=EBI-1055254, EBI-21252376; CC Q8WXH2; O94955: RHOBTB3; NbExp=3; IntAct=EBI-1055254, EBI-2367123; CC Q8WXH2; Q8WVD3: RNF138; NbExp=3; IntAct=EBI-1055254, EBI-749039; CC Q8WXH2; P46782: RPS5; NbExp=3; IntAct=EBI-1055254, EBI-350569; CC Q8WXH2; Q8N6K7-2: SAMD3; NbExp=3; IntAct=EBI-1055254, EBI-11528848; CC Q8WXH2; Q8IZE3-2: SCYL3; NbExp=3; IntAct=EBI-1055254, EBI-11959369; CC Q8WXH2; P60896: SEM1; NbExp=3; IntAct=EBI-1055254, EBI-79819; CC Q8WXH2; Q12874: SF3A3; NbExp=3; IntAct=EBI-1055254, EBI-1051880; CC Q8WXH2; Q6FHJ7: SFRP4; NbExp=3; IntAct=EBI-1055254, EBI-2854879; CC Q8WXH2; Q9GZS3: SKIC8; NbExp=3; IntAct=EBI-1055254, EBI-358545; CC Q8WXH2; Q8NCS7: SLC44A5; NbExp=3; IntAct=EBI-1055254, EBI-21504521; CC Q8WXH2; O95391: SLU7; NbExp=3; IntAct=EBI-1055254, EBI-750559; CC Q8WXH2; P84022: SMAD3; NbExp=3; IntAct=EBI-1055254, EBI-347161; CC Q8WXH2; Q12824: SMARCB1; NbExp=3; IntAct=EBI-1055254, EBI-358419; CC Q8WXH2; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-1055254, EBI-358489; CC Q8WXH2; Q13573: SNW1; NbExp=3; IntAct=EBI-1055254, EBI-632715; CC Q8WXH2; Q8WXH5: SOCS4; NbExp=3; IntAct=EBI-1055254, EBI-3942425; CC Q8WXH2; Q8NHS9: SPATA22; NbExp=3; IntAct=EBI-1055254, EBI-7067260; CC Q8WXH2; Q8IUW3: SPATA2L; NbExp=3; IntAct=EBI-1055254, EBI-2510414; CC Q8WXH2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-1055254, EBI-5235340; CC Q8WXH2; Q08170: SRSF4; NbExp=3; IntAct=EBI-1055254, EBI-722621; CC Q8WXH2; O75177-5: SS18L1; NbExp=3; IntAct=EBI-1055254, EBI-12035119; CC Q8WXH2; O95630: STAMBP; NbExp=3; IntAct=EBI-1055254, EBI-396676; CC Q8WXH2; Q13188: STK3; NbExp=3; IntAct=EBI-1055254, EBI-992580; CC Q8WXH2; Q9BR01-2: SULT4A1; NbExp=3; IntAct=EBI-1055254, EBI-25831443; CC Q8WXH2; Q9UHF0: TAC3; NbExp=3; IntAct=EBI-1055254, EBI-717325; CC Q8WXH2; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-1055254, EBI-745958; CC Q8WXH2; O15273: TCAP; NbExp=3; IntAct=EBI-1055254, EBI-954089; CC Q8WXH2; P20061: TCN1; NbExp=3; IntAct=EBI-1055254, EBI-2557232; CC Q8WXH2; Q7Z403: TMC6; NbExp=3; IntAct=EBI-1055254, EBI-9088037; CC Q8WXH2; P49755: TMED10; NbExp=3; IntAct=EBI-1055254, EBI-998422; CC Q8WXH2; Q8N605: TMEM135; NbExp=3; IntAct=EBI-1055254, EBI-25928249; CC Q8WXH2; Q96I45: TMEM141; NbExp=3; IntAct=EBI-1055254, EBI-17681263; CC Q8WXH2; Q96B77: TMEM186; NbExp=3; IntAct=EBI-1055254, EBI-9089409; CC Q8WXH2; Q9BVT8: TMUB1; NbExp=3; IntAct=EBI-1055254, EBI-11425701; CC Q8WXH2; Q71RG4-4: TMUB2; NbExp=3; IntAct=EBI-1055254, EBI-25831574; CC Q8WXH2; Q13829: TNFAIP1; NbExp=3; IntAct=EBI-1055254, EBI-2505861; CC Q8WXH2; Q9BWF2: TRAIP; NbExp=3; IntAct=EBI-1055254, EBI-1756205; CC Q8WXH2; Q9NSU2-1: TREX1; NbExp=3; IntAct=EBI-1055254, EBI-16746122; CC Q8WXH2; Q6DKK2: TTC19; NbExp=3; IntAct=EBI-1055254, EBI-948354; CC Q8WXH2; Q5VYS8-5: TUT7; NbExp=3; IntAct=EBI-1055254, EBI-9088812; CC Q8WXH2; P10599: TXN; NbExp=3; IntAct=EBI-1055254, EBI-594644; CC Q8WXH2; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-1055254, EBI-10180829; CC Q8WXH2; Q8IYU4: UBQLNL; NbExp=3; IntAct=EBI-1055254, EBI-12295223; CC Q8WXH2; Q14694: USP10; NbExp=3; IntAct=EBI-1055254, EBI-2510389; CC Q8WXH2; Q9Y5T5-2: USP16; NbExp=3; IntAct=EBI-1055254, EBI-16813369; CC Q8WXH2; O75604-3: USP2; NbExp=3; IntAct=EBI-1055254, EBI-10696113; CC Q8WXH2; Q9BVJ6: UTP14A; NbExp=3; IntAct=EBI-1055254, EBI-473284; CC Q8WXH2; P40337-2: VHL; NbExp=3; IntAct=EBI-1055254, EBI-12157263; CC Q8WXH2; Q8NEZ2: VPS37A; NbExp=3; IntAct=EBI-1055254, EBI-2850578; CC Q8WXH2; P58304: VSX2; NbExp=3; IntAct=EBI-1055254, EBI-6427899; CC Q8WXH2; Q9BRX9: WDR83; NbExp=3; IntAct=EBI-1055254, EBI-7705033; CC Q8WXH2; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-1055254, EBI-12040603; CC Q8WXH2; O00308: WWP2; NbExp=3; IntAct=EBI-1055254, EBI-743923; CC Q8WXH2; Q9Y548: YIPF1; NbExp=3; IntAct=EBI-1055254, EBI-7850136; CC Q8WXH2; P24278: ZBTB25; NbExp=3; IntAct=EBI-1055254, EBI-739899; CC Q8WXH2; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-1055254, EBI-14104088; CC Q8WXH2; P26651: ZFP36; NbExp=3; IntAct=EBI-1055254, EBI-374248; CC Q8WXH2; Q9BRR0: ZKSCAN3; NbExp=3; IntAct=EBI-1055254, EBI-1965777; CC Q8WXH2; P17023: ZNF19; NbExp=3; IntAct=EBI-1055254, EBI-12884200; CC Q8WXH2; P17024: ZNF20; NbExp=3; IntAct=EBI-1055254, EBI-717634; CC Q8WXH2; Q9UNY5: ZNF232; NbExp=3; IntAct=EBI-1055254, EBI-749023; CC Q8WXH2; Q9NR11-2: ZNF302; NbExp=3; IntAct=EBI-1055254, EBI-12988373; CC Q8WXH2; Q9C0F3: ZNF436; NbExp=3; IntAct=EBI-1055254, EBI-8489702; CC Q8WXH2; O60304: ZNF500; NbExp=3; IntAct=EBI-1055254, EBI-18234077; CC Q8WXH2; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-1055254, EBI-745520; CC Q8WXH2; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-1055254, EBI-10251462; CC Q8WXH2; O15535: ZSCAN9; NbExp=3; IntAct=EBI-1055254, EBI-751531; CC Q8WXH2; Q86V28; NbExp=3; IntAct=EBI-1055254, EBI-10259496; CC Q8WXH2; Q96E88; NbExp=3; IntAct=EBI-1055254, EBI-10976904; CC Q8WXH2; Q9BQ29; NbExp=3; IntAct=EBI-1055254, EBI-22013570; CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane CC protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; CC Single-pass type IV membrane protein {ECO:0000250}. Note=Localized CC predominantly on the plasma membrane. The transmembrane domain is CC anchored in endoplasmic reticulum membrane, while the N-terminal part CC associates with the plasma membrane (By similarity). {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Comment=Additional isoforms seem to exist.; CC Name=1; CC IsoId=Q8WXH2-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8WXH2-2; Sequence=VSP_002787, VSP_002788; CC -!- TISSUE SPECIFICITY: Specifically expressed in brain. CC {ECO:0000269|PubMed:10891348}. CC -!- DOMAIN: The MORN (membrane occupation and recognition nexus) repeats CC contribute to the plasma membrane binding, possibly by interacting with CC phospholipids. {ECO:0000250}. CC -!- POLYMORPHISM: Isoform 2 length of the poly-Ala region is variable (6 to CC 27 CTG/CAG triplets) in the normal population and may be expanded (41 CC to 58 CTG/CAG triplets) in patients suffering from Huntington disease- CC like type 2. CC -!- DISEASE: Huntington disease-like 2 (HDL2) [MIM:606438]: Huntington CC disease (HD) is a neurodegenerative disorder resulting primarily from CC the loss of medium spiny projection neurons in the striatum, especially CC in the caudate nucleus, and, to a lesser extent, atrophy of CC mesencephalic and cortical structures. The typical clinical picture of CC HD combines familial adult onset chorea and subcortical dementia that CC usually begin during the fourth decade of life. CC {ECO:0000269|PubMed:11914418, ECO:0000269|PubMed:14557581}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- SIMILARITY: Belongs to the junctophilin family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB042636; BAB11983.1; -; mRNA. DR EMBL; AB042640; BAB11987.1; -; Genomic_DNA. DR EMBL; CH471114; EAW95386.1; -; Genomic_DNA. DR EMBL; CH471114; EAW95387.1; -; Genomic_DNA. DR EMBL; BC036533; AAH36533.1; -; mRNA. DR EMBL; AF429315; AAL40941.1; -; Genomic_DNA. DR EMBL; BE042890; -; NOT_ANNOTATED_CDS; mRNA. DR CCDS; CCDS10962.1; -. [Q8WXH2-1] DR RefSeq; NP_065706.2; NM_020655.3. [Q8WXH2-1] DR AlphaFoldDB; Q8WXH2; -. DR SMR; Q8WXH2; -. DR BioGRID; 121492; 52. DR IntAct; Q8WXH2; 211. DR MINT; Q8WXH2; -. DR STRING; 9606.ENSP00000284262; -. DR TCDB; 8.A.110.1.5; the junctophilin (jp) family. DR iPTMnet; Q8WXH2; -. DR PhosphoSitePlus; Q8WXH2; -. DR BioMuta; JPH3; -. DR DMDM; 27805485; -. DR MassIVE; Q8WXH2; -. DR PaxDb; 9606-ENSP00000284262; -. DR PeptideAtlas; Q8WXH2; -. DR ProteomicsDB; 75053; -. [Q8WXH2-1] DR ProteomicsDB; 75054; -. [Q8WXH2-2] DR Antibodypedia; 17225; 198 antibodies from 25 providers. DR DNASU; 57338; -. DR Ensembl; ENST00000284262.3; ENSP00000284262.2; ENSG00000154118.13. [Q8WXH2-1] DR GeneID; 57338; -. DR KEGG; hsa:57338; -. DR MANE-Select; ENST00000284262.3; ENSP00000284262.2; NM_020655.4; NP_065706.2. DR UCSC; uc002fkd.5; human. [Q8WXH2-1] DR AGR; HGNC:14203; -. DR CTD; 57338; -. DR DisGeNET; 57338; -. DR GeneCards; JPH3; -. DR GeneReviews; JPH3; -. DR HGNC; HGNC:14203; JPH3. DR HPA; ENSG00000154118; Tissue enriched (brain). DR MalaCards; JPH3; -. DR MIM; 605268; gene. DR MIM; 606438; phenotype. DR neXtProt; NX_Q8WXH2; -. DR OpenTargets; ENSG00000154118; -. DR Orphanet; 98934; Huntington disease-like 2. DR PharmGKB; PA30000; -. DR VEuPathDB; HostDB:ENSG00000154118; -. DR eggNOG; KOG0231; Eukaryota. DR GeneTree; ENSGT00940000158707; -. DR HOGENOM; CLU_008078_2_0_1; -. DR InParanoid; Q8WXH2; -. DR OMA; RHYSKAG; -. DR OrthoDB; 5393283at2759; -. DR PhylomeDB; Q8WXH2; -. DR TreeFam; TF317210; -. DR PathwayCommons; Q8WXH2; -. DR SignaLink; Q8WXH2; -. DR BioGRID-ORCS; 57338; 11 hits in 1145 CRISPR screens. DR ChiTaRS; JPH3; human. DR GeneWiki; JPH3; -. DR GenomeRNAi; 57338; -. DR Pharos; Q8WXH2; Tbio. DR PRO; PR:Q8WXH2; -. DR Proteomes; UP000005640; Chromosome 16. DR RNAct; Q8WXH2; Protein. DR Bgee; ENSG00000154118; Expressed in right frontal lobe and 119 other cell types or tissues. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central. DR GO; GO:0030314; C:junctional membrane complex; IBA:GO_Central. DR GO; GO:0014701; C:junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL. DR GO; GO:0016020; C:membrane; NAS:UniProtKB. DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central. DR GO; GO:0060402; P:calcium ion transport into cytosol; TAS:BHF-UCL. DR GO; GO:0035640; P:exploration behavior; IEA:Ensembl. DR GO; GO:0007612; P:learning; IEA:Ensembl. DR GO; GO:0040011; P:locomotion; IEA:Ensembl. DR GO; GO:0007613; P:memory; IEA:Ensembl. DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl. DR GO; GO:0048168; P:regulation of neuronal synaptic plasticity; IEA:Ensembl. DR GO; GO:0060314; P:regulation of ryanodine-sensitive calcium-release channel activity; TAS:BHF-UCL. DR GO; GO:0048167; P:regulation of synaptic plasticity; IBA:GO_Central. DR Gene3D; 2.20.110.10; Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain; 3. DR InterPro; IPR017191; Junctophilin. DR InterPro; IPR003409; MORN. DR PANTHER; PTHR23085; GH28348P; 1. DR PANTHER; PTHR23085:SF7; JUNCTOPHILIN-3; 1. DR Pfam; PF02493; MORN; 8. DR PIRSF; PIRSF037387; Junctophilin; 1. DR SMART; SM00698; MORN; 7. DR SUPFAM; SSF82185; Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain; 2. DR Genevisible; Q8WXH2; HS. PE 1: Evidence at protein level; KW Alternative splicing; Cell membrane; Endoplasmic reticulum; Membrane; KW Phosphoprotein; Reference proteome; Repeat; Transmembrane; KW Transmembrane helix; Triplet repeat expansion. FT CHAIN 1..748 FT /note="Junctophilin-3" FT /id="PRO_0000159850" FT TOPO_DOM 1..727 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 728..748 FT /note="Helical; Anchor for type IV membrane protein" FT /evidence="ECO:0000255" FT REPEAT 15..37 FT /note="MORN 1" FT REPEAT 39..60 FT /note="MORN 2" FT REPEAT 61..82 FT /note="MORN 3" FT REPEAT 83..105 FT /note="MORN 4" FT REPEAT 107..129 FT /note="MORN 5" FT REPEAT 130..152 FT /note="MORN 6" FT REPEAT 288..310 FT /note="MORN 7" FT REPEAT 311..333 FT /note="MORN 8" FT REGION 230..259 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 416..496 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 526..597 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 624..649 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 442..481 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 557..577 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 579..593 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 440 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 451 FT /note="Phosphothreonine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 457 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 471 FT /note="Phosphothreonine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 475 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 506 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 703 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT MOD_RES 710 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q9ET77" FT VAR_SEQ 128..188 FT /note="GTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHP FT DASPAVAGS -> DATAFGAEPGPEARELPAAAAAAAAAAAAAAAVRWFLCREPWPALQ FT LPACLDSPISTPQCT (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_002787" FT VAR_SEQ 189..748 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_002788" FT VARIANT 376 FT /note="I -> T (in dbSNP:rs17857118)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_032494" FT VARIANT 472 FT /note="P -> T (in dbSNP:rs17853660)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_032495" FT VARIANT 645 FT /note="P -> L (in dbSNP:rs17853661)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_032496" FT CONFLICT 176 FT /note="A -> P (in Ref. 1; BAB11983)" FT /evidence="ECO:0000305" FT CONFLICT 186 FT /note="A -> D (in Ref. 1; BAB11983)" FT /evidence="ECO:0000305" SQ SEQUENCE 748 AA; 81469 MW; B88E5065FD7BCD02 CRC64; MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI //