JPH3_HUMAN
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 03-AUG-2022, entry version 176.
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; Q8TAB7: 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; 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: MYLPF; 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; Q3SX64: ODF3L2; NbExp=3; IntAct=EBI-1055254, EBI-6660184;
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; 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; Q9BQ29: THAP4; NbExp=3; IntAct=EBI-1055254, EBI-22013570;
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; Q9GZS3: WDR61; NbExp=3; IntAct=EBI-1055254, EBI-358545;
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 -!- 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}.
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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; 210.
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; Q8WXH2; -.
DR PeptideAtlas; Q8WXH2; -.
DR PRIDE; Q8WXH2; -.
DR ProteomicsDB; 75053; -. [Q8WXH2-1]
DR ProteomicsDB; 75054; -. [Q8WXH2-2]
DR Antibodypedia; 17225; 186 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 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 PhylomeDB; Q8WXH2; -.
DR TreeFam; TF317210; -.
DR PathwayCommons; Q8WXH2; -.
DR SignaLink; Q8WXH2; -.
DR BioGRID-ORCS; 57338; 11 hits in 1067 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 117 other tissues.
DR Genevisible; Q8WXH2; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
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: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 InterPro; IPR017191; Junctophilin.
DR InterPro; IPR003409; MORN.
DR PANTHER; PTHR23085; PTHR23085; 2.
DR Pfam; PF02493; MORN; 8.
DR PIRSF; PIRSF037387; Junctophilin; 1.
DR SMART; SM00698; MORN; 7.
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
