SCN3B_HUMAN
ID SCN3B_HUMAN Reviewed; 215 AA.
AC Q9NY72; A5H1I5; Q17RL3; Q9ULR2;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Sodium channel subunit beta-3;
DE Flags: Precursor;
GN Name=SCN3B; Synonyms=KIAA1158;
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 [MRNA].
RC TISSUE=Brain;
RX PubMed=10688874; DOI=10.1073/pnas.030362197;
RA Morgan K., Stevens E.B., Shaw B., Cox P., Dixon A.K., Lee K., Pinnock R.D.,
RA Highes J., Richardson P.J., Mizuguchi K., Jackson A.P.;
RT "Beta3: an additional auxiliary subunit of the voltage-sensitive sodium
RT channel that modulates channel gating with distinct kinetics.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:2308-2313(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [7]
RP VARIANTS [LARGE SCALE ANALYSIS] LEU-89 AND THR-195.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [8]
RP VARIANT BRGDA7 PRO-10.
RX PubMed=20031595; DOI=10.1161/circgenetics.108.829192;
RA Hu D., Barajas-Martinez H., Burashnikov E., Springer M., Wu Y., Varro A.,
RA Pfeiffer R., Koopmann T.T., Cordeiro J.M., Guerchicoff A., Pollevick G.D.,
RA Antzelevitch C.;
RT "A mutation in the beta-3 subunit of the cardiac sodium channel associated
RT with Brugada ECG phenotype.";
RL Circ. Cardiovasc. Genet. 2:270-278(2009).
RN [9]
RP INVOLVEMENT IN ATFB16, VARIANT ATFB16 VAL-130, AND CHARACTERIZATION OF
RP VARIANT ATFB16 VAL-130.
RX PubMed=20558140; DOI=10.1016/j.bbrc.2010.06.042;
RA Wang P., Yang Q., Wu X., Yang Y., Shi L., Wang C., Wu G., Xia Y., Yang B.,
RA Zhang R., Xu C., Cheng X., Li S., Zhao Y., Fu F., Liao Y., Fang F.,
RA Chen Q., Tu X., Wang Q.K.;
RT "Functional dominant-negative mutation of sodium channel subunit gene SCN3B
RT associated with atrial fibrillation in a Chinese GeneID population.";
RL Biochem. Biophys. Res. Commun. 398:98-104(2010).
RN [10]
RP VARIANT GLY-54.
RX PubMed=20042427; DOI=10.1093/cvr/cvp417;
RA Valdivia C.R., Medeiros-Domingo A., Ye B., Shen W.K., Algiers T.J.,
RA Ackerman M.J., Makielski J.C.;
RT "Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3
RT subunit associated with a case of idiopathic ventricular fibrillation.";
RL Cardiovasc. Res. 86:392-400(2010).
RN [11]
RP VARIANTS ATFB16 LYS-6; PRO-10 AND THR-161, TISSUE SPECIFICITY, AND
RP CHARACTERIZATION OF VARIANTS ATFB16 LYS-6; PRO-10 AND THR-161.
RX PubMed=21051419; DOI=10.1093/cvr/cvq348;
RA Olesen M.S., Jespersen T., Nielsen J.B., Liang B., Moller D.V., Hedley P.,
RA Christiansen M., Varro A., Olesen S.P., Haunso S., Schmitt N.,
RA Svendsen J.H.;
RT "Mutations in sodium channel beta-subunit SCN3B are associated with early-
RT onset lone atrial fibrillation.";
RL Cardiovasc. Res. 89:786-793(2011).
CC -!- FUNCTION: Modulates channel gating kinetics. Causes unique persistent
CC sodium currents. Inactivates the sodium channel opening more slowly
CC than the subunit beta-1. Its association with NFASC may target the
CC sodium channels to the nodes of Ranvier of developing axons and retain
CC these channels at the nodes in mature myelinated axons (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: The voltage-sensitive sodium channel consists of an ion
CC conducting pore forming alpha-subunit regulated by one or more beta-1,
CC beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-
CC covalently associated with alpha, while beta-2 and beta-4 are
CC covalently linked by disulfide bonds (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NY72; Q15848: ADIPOQ; NbExp=3; IntAct=EBI-17247926, EBI-10827839;
CC Q9NY72; Q9NRZ5: AGPAT4; NbExp=3; IntAct=EBI-17247926, EBI-1754287;
CC Q9NY72; Q9NUQ2: AGPAT5; NbExp=3; IntAct=EBI-17247926, EBI-6916385;
CC Q9NY72; Q86W74-2: ANKRD46; NbExp=3; IntAct=EBI-17247926, EBI-12109402;
CC Q9NY72; Q96PS8: AQP10; NbExp=3; IntAct=EBI-17247926, EBI-12820279;
CC Q9NY72; Q9H2C2: ARV1; NbExp=4; IntAct=EBI-17247926, EBI-11724186;
CC Q9NY72; Q9HD20-3: ATP13A1; NbExp=3; IntAct=EBI-17247926, EBI-12069500;
CC Q9NY72; P27449: ATP6V0C; NbExp=3; IntAct=EBI-17247926, EBI-721179;
CC Q9NY72; Q12981: BNIP1; NbExp=3; IntAct=EBI-17247926, EBI-4402847;
CC Q9NY72; Q12983: BNIP3; NbExp=3; IntAct=EBI-17247926, EBI-749464;
CC Q9NY72; Q6PL45-2: BRICD5; NbExp=3; IntAct=EBI-17247926, EBI-12244618;
CC Q9NY72; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-17247926, EBI-12019274;
CC Q9NY72; P78329: CYP4F2; NbExp=3; IntAct=EBI-17247926, EBI-1752413;
CC Q9NY72; P81534: DEFB103B; NbExp=3; IntAct=EBI-17247926, EBI-12074168;
CC Q9NY72; Q9BUN8: DERL1; NbExp=3; IntAct=EBI-17247926, EBI-398977;
CC Q9NY72; Q6ZPD8: DGAT2L6; NbExp=3; IntAct=EBI-17247926, EBI-12831978;
CC Q9NY72; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-17247926, EBI-711490;
CC Q9NY72; Q96D05-2: FAM241B; NbExp=3; IntAct=EBI-17247926, EBI-12118888;
CC Q9NY72; Q92520: FAM3C; NbExp=3; IntAct=EBI-17247926, EBI-2876774;
CC Q9NY72; Q9Y3D6: FIS1; NbExp=3; IntAct=EBI-17247926, EBI-3385283;
CC Q9NY72; Q14318: FKBP8; NbExp=3; IntAct=EBI-17247926, EBI-724839;
CC Q9NY72; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-17247926, EBI-12175685;
CC Q9NY72; Q8WWP7: GIMAP1; NbExp=3; IntAct=EBI-17247926, EBI-11991950;
CC Q9NY72; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-17247926, EBI-6166686;
CC Q9NY72; Q8TDV0: GPR151; NbExp=3; IntAct=EBI-17247926, EBI-11955647;
CC Q9NY72; Q9BZJ8: GPR61; NbExp=3; IntAct=EBI-17247926, EBI-12808020;
CC Q9NY72; Q9Y5U9: IER3IP1; NbExp=3; IntAct=EBI-17247926, EBI-725665;
CC Q9NY72; Q9Y5U4: INSIG2; NbExp=3; IntAct=EBI-17247926, EBI-8503746;
CC Q9NY72; Q6H9L7: ISM2; NbExp=3; IntAct=EBI-17247926, EBI-17249161;
CC Q9NY72; P11215: ITGAM; NbExp=3; IntAct=EBI-17247926, EBI-2568251;
CC Q9NY72; Q68G75: LEMD1; NbExp=3; IntAct=EBI-17247926, EBI-12268900;
CC Q9NY72; O95214: LEPROTL1; NbExp=3; IntAct=EBI-17247926, EBI-750776;
CC Q9NY72; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-17247926, EBI-12033434;
CC Q9NY72; Q969L2: MAL2; NbExp=3; IntAct=EBI-17247926, EBI-944295;
CC Q9NY72; Q9P0N8: MARCHF2; NbExp=3; IntAct=EBI-17247926, EBI-10317612;
CC Q9NY72; Q6N075: MFSD5; NbExp=3; IntAct=EBI-17247926, EBI-3920969;
CC Q9NY72; O14880: MGST3; NbExp=3; IntAct=EBI-17247926, EBI-724754;
CC Q9NY72; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-17247926, EBI-12070086;
CC Q9NY72; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-17247926, EBI-10317425;
CC Q9NY72; Q9P0S3: ORMDL1; NbExp=3; IntAct=EBI-17247926, EBI-1054848;
CC Q9NY72; Q53FV1: ORMDL2; NbExp=3; IntAct=EBI-17247926, EBI-11075081;
CC Q9NY72; Q8NHP8: PLBD2; NbExp=3; IntAct=EBI-17247926, EBI-10968883;
CC Q9NY72; Q04941: PLP2; NbExp=3; IntAct=EBI-17247926, EBI-608347;
CC Q9NY72; Q96GM1: PLPPR2; NbExp=3; IntAct=EBI-17247926, EBI-12955265;
CC Q9NY72; Q01453: PMP22; NbExp=3; IntAct=EBI-17247926, EBI-2845982;
CC Q9NY72; Q02161-2: RHD; NbExp=3; IntAct=EBI-17247926, EBI-17249212;
CC Q9NY72; O76064: RNF8; NbExp=3; IntAct=EBI-17247926, EBI-373337;
CC Q9NY72; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-17247926, EBI-8636004;
CC Q9NY72; Q9NTJ5: SACM1L; NbExp=3; IntAct=EBI-17247926, EBI-3917235;
CC Q9NY72; O00767: SCD; NbExp=3; IntAct=EBI-17247926, EBI-2684237;
CC Q9NY72; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-17247926, EBI-8652744;
CC Q9NY72; Q8N6R1: SERP2; NbExp=3; IntAct=EBI-17247926, EBI-749270;
CC Q9NY72; Q8WV19: SFT2D1; NbExp=3; IntAct=EBI-17247926, EBI-2854842;
CC Q9NY72; Q9H9B4: SFXN1; NbExp=3; IntAct=EBI-17247926, EBI-355861;
CC Q9NY72; A0A1P0AYU5: SFXN3; NbExp=3; IntAct=EBI-17247926, EBI-14193895;
CC Q9NY72; P22732: SLC2A5; NbExp=3; IntAct=EBI-17247926, EBI-2825135;
CC Q9NY72; Q99726: SLC30A3; NbExp=3; IntAct=EBI-17247926, EBI-10294651;
CC Q9NY72; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-17247926, EBI-10262251;
CC Q9NY72; Q96G79: SLC35A4; NbExp=3; IntAct=EBI-17247926, EBI-12363689;
CC Q9NY72; Q6ICL7: SLC35E4; NbExp=3; IntAct=EBI-17247926, EBI-12867720;
CC Q9NY72; Q9H2H9: SLC38A1; NbExp=3; IntAct=EBI-17247926, EBI-9978441;
CC Q9NY72; Q9NVC3: SLC38A7; NbExp=3; IntAct=EBI-17247926, EBI-10314552;
CC Q9NY72; P30825: SLC7A1; NbExp=3; IntAct=EBI-17247926, EBI-4289564;
CC Q9NY72; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-17247926, EBI-8640191;
CC Q9NY72; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-17247926, EBI-12188413;
CC Q9NY72; P0DN84: STRIT1; NbExp=3; IntAct=EBI-17247926, EBI-12200293;
CC Q9NY72; Q13277: STX3; NbExp=3; IntAct=EBI-17247926, EBI-1394295;
CC Q9NY72; O43752: STX6; NbExp=3; IntAct=EBI-17247926, EBI-2695795;
CC Q9NY72; Q9UNK0: STX8; NbExp=3; IntAct=EBI-17247926, EBI-727240;
CC Q9NY72; Q9UPZ6: THSD7A; NbExp=3; IntAct=EBI-17247926, EBI-310962;
CC Q9NY72; O14925: TIMM23; NbExp=3; IntAct=EBI-17247926, EBI-1047996;
CC Q9NY72; Q9BZW4: TM6SF2; NbExp=3; IntAct=EBI-17247926, EBI-13082040;
CC Q9NY72; P55061: TMBIM6; NbExp=3; IntAct=EBI-17247926, EBI-1045825;
CC Q9NY72; Q9BXJ8: TMEM120A; NbExp=3; IntAct=EBI-17247926, EBI-727322;
CC Q9NY72; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-17247926, EBI-10171534;
CC Q9NY72; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-17247926, EBI-10694905;
CC Q9NY72; Q9NV12: TMEM140; NbExp=3; IntAct=EBI-17247926, EBI-2844246;
CC Q9NY72; Q9Y6G1: TMEM14A; NbExp=3; IntAct=EBI-17247926, EBI-2800360;
CC Q9NY72; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-17247926, EBI-8638294;
CC Q9NY72; Q9BTX3: TMEM208; NbExp=3; IntAct=EBI-17247926, EBI-12876824;
CC Q9NY72; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-17247926, EBI-11528917;
CC Q9NY72; Q9BU79: TMEM243; NbExp=3; IntAct=EBI-17247926, EBI-12887458;
CC Q9NY72; Q69YG0: TMEM42; NbExp=3; IntAct=EBI-17247926, EBI-12038591;
CC Q9NY72; P56557: TMEM50B; NbExp=3; IntAct=EBI-17247926, EBI-12366453;
CC Q9NY72; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-17247926, EBI-2852148;
CC Q9NY72; Q6PI78: TMEM65; NbExp=3; IntAct=EBI-17247926, EBI-6656213;
CC Q9NY72; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-17247926, EBI-12015604;
CC Q9NY72; Q6ZT21: TMPPE; NbExp=3; IntAct=EBI-17247926, EBI-11724433;
CC Q9NY72; Q6ZUI0: TPRG1; NbExp=3; IntAct=EBI-17247926, EBI-17249488;
CC Q9NY72; O60636: TSPAN2; NbExp=3; IntAct=EBI-17247926, EBI-3914288;
CC Q9NY72; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-17247926, EBI-11988865;
CC Q9NY72; Q9NYZ1: TVP23B; NbExp=3; IntAct=EBI-17247926, EBI-11343401;
CC Q9NY72; Q9Y5Z9: UBIAD1; NbExp=3; IntAct=EBI-17247926, EBI-2819725;
CC Q9NY72; Q9NZ43: USE1; NbExp=3; IntAct=EBI-17247926, EBI-742842;
CC Q9NY72; P23763-3: VAMP1; NbExp=3; IntAct=EBI-17247926, EBI-12097582;
CC Q9NY72; P63027: VAMP2; NbExp=3; IntAct=EBI-17247926, EBI-520113;
CC Q9NY72; Q15836: VAMP3; NbExp=3; IntAct=EBI-17247926, EBI-722343;
CC Q9NY72; Q9P0L0: VAPA; NbExp=3; IntAct=EBI-17247926, EBI-1059156;
CC Q9NY72; O95292: VAPB; NbExp=3; IntAct=EBI-17247926, EBI-1188298;
CC Q9NY72; O95070: YIF1A; NbExp=3; IntAct=EBI-17247926, EBI-2799703;
CC Q9NY72; Q9BSR8: YIPF4; NbExp=3; IntAct=EBI-17247926, EBI-751253;
CC Q9NY72; O95159: ZFPL1; NbExp=3; IntAct=EBI-17247926, EBI-718439;
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
CC -!- TISSUE SPECIFICITY: Expressed in the atrium.
CC {ECO:0000269|PubMed:21051419}.
CC -!- DISEASE: Brugada syndrome 7 (BRGDA7) [MIM:613120]: A tachyarrhythmia
CC characterized by right bundle branch block and ST segment elevation on
CC an electrocardiogram (ECG). It can cause the ventricles to beat so fast
CC that the blood is prevented from circulating efficiently in the body.
CC When this situation occurs, the individual will faint and may die in a
CC few minutes if the heart is not reset. {ECO:0000269|PubMed:20031595}.
CC Note=The gene represented in this entry may be involved in disease
CC pathogenesis.
CC -!- DISEASE: Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]: A
CC familial form of atrial fibrillation, a common sustained cardiac rhythm
CC disturbance. Atrial fibrillation is characterized by disorganized
CC atrial electrical activity and ineffective atrial contraction promoting
CC blood stasis in the atria and reduces ventricular filling. It can
CC result in palpitations, syncope, thromboembolic stroke, and congestive
CC heart failure. {ECO:0000269|PubMed:20558140,
CC ECO:0000269|PubMed:21051419}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the sodium channel auxiliary subunit SCN3B (TC
CC 8.A.17) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86472.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ243396; CAB76825.1; -; mRNA.
DR EMBL; AL136589; CAB66524.1; -; mRNA.
DR EMBL; AB032984; BAA86472.1; ALT_INIT; mRNA.
DR EMBL; AK314513; BAG37113.1; -; mRNA.
DR EMBL; DQ677666; ABQ01237.1; -; Genomic_DNA.
DR EMBL; BC117282; AAI17283.1; -; mRNA.
DR EMBL; BC126265; AAI26266.1; -; mRNA.
DR CCDS; CCDS8442.1; -.
DR RefSeq; NP_001035241.1; NM_001040151.1.
DR RefSeq; NP_060870.1; NM_018400.3.
DR RefSeq; XP_011541199.1; XM_011542897.1.
DR PDB; 4L1D; X-ray; 2.50 A; A/B/C=25-145.
DR PDB; 7TJ8; EM; 3.20 A; B=1-215.
DR PDB; 7TJ9; EM; 2.90 A; B=1-215.
DR PDBsum; 4L1D; -.
DR PDBsum; 7TJ8; -.
DR PDBsum; 7TJ9; -.
DR AlphaFoldDB; Q9NY72; -.
DR SMR; Q9NY72; -.
DR BioGRID; 120912; 206.
DR IntAct; Q9NY72; 169.
DR MINT; Q9NY72; -.
DR STRING; 9606.ENSP00000376523; -.
DR DrugBank; DB05541; Brivaracetam.
DR DrugBank; DB00907; Cocaine.
DR DrugBank; DB13269; Dichlorobenzyl alcohol.
DR DrugBank; DB13961; Fish oil.
DR DrugBank; DB00776; Oxcarbazepine.
DR DrugBank; DB00243; Ranolazine.
DR DrugBank; DB00313; Valproic acid.
DR DrugBank; DB00909; Zonisamide.
DR DrugCentral; Q9NY72; -.
DR GlyGen; Q9NY72; 4 sites.
DR PhosphoSitePlus; Q9NY72; -.
DR BioMuta; SCN3B; -.
DR DMDM; 12229762; -.
DR MassIVE; Q9NY72; -.
DR PaxDb; Q9NY72; -.
DR PeptideAtlas; Q9NY72; -.
DR PRIDE; Q9NY72; -.
DR ProteomicsDB; 83185; -.
DR Antibodypedia; 18943; 144 antibodies from 23 providers.
DR DNASU; 55800; -.
DR Ensembl; ENST00000299333.8; ENSP00000299333.3; ENSG00000166257.10.
DR Ensembl; ENST00000392770.6; ENSP00000376523.2; ENSG00000166257.10.
DR Ensembl; ENST00000530277.5; ENSP00000432785.1; ENSG00000166257.10.
DR Ensembl; ENST00000657123.1; ENSP00000499439.1; ENSG00000166257.10.
DR Ensembl; ENST00000657191.1; ENSP00000499755.1; ENSG00000166257.10.
DR GeneID; 55800; -.
DR KEGG; hsa:55800; -.
DR MANE-Select; ENST00000299333.8; ENSP00000299333.3; NM_001040151.2; NP_001035241.1.
DR UCSC; uc001pza.2; human.
DR CTD; 55800; -.
DR DisGeNET; 55800; -.
DR GeneCards; SCN3B; -.
DR GeneReviews; SCN3B; -.
DR HGNC; HGNC:20665; SCN3B.
DR HPA; ENSG00000166257; Tissue enhanced (brain, pituitary gland).
DR MalaCards; SCN3B; -.
DR MIM; 608214; gene.
DR MIM; 613120; phenotype.
DR neXtProt; NX_Q9NY72; -.
DR OpenTargets; ENSG00000166257; -.
DR Orphanet; 130; Brugada syndrome.
DR Orphanet; 334; Familial atrial fibrillation.
DR PharmGKB; PA130546912; -.
DR VEuPathDB; HostDB:ENSG00000166257; -.
DR eggNOG; ENOG502QWH0; Eukaryota.
DR GeneTree; ENSGT00390000018560; -.
DR HOGENOM; CLU_096296_1_0_1; -.
DR InParanoid; Q9NY72; -.
DR OMA; LIFEYRN; -.
DR OrthoDB; 1198549at2759; -.
DR PhylomeDB; Q9NY72; -.
DR TreeFam; TF332097; -.
DR PathwayCommons; Q9NY72; -.
DR Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
DR Reactome; R-HSA-5576892; Phase 0 - rapid depolarisation.
DR SignaLink; Q9NY72; -.
DR BioGRID-ORCS; 55800; 13 hits in 1071 CRISPR screens.
DR GeneWiki; SCN3B; -.
DR GenomeRNAi; 55800; -.
DR Pharos; Q9NY72; Tbio.
DR PRO; PR:Q9NY72; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NY72; protein.
DR Bgee; ENSG00000166257; Expressed in middle temporal gyrus and 125 other tissues.
DR ExpressionAtlas; Q9NY72; baseline and differential.
DR Genevisible; Q9NY72; HS.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:LIFEdb.
DR GO; GO:0001518; C:voltage-gated sodium channel complex; IDA:BHF-UCL.
DR GO; GO:0030018; C:Z disc; ISS:BHF-UCL.
DR GO; GO:0019871; F:sodium channel inhibitor activity; IBA:GO_Central.
DR GO; GO:0017080; F:sodium channel regulator activity; IDA:BHF-UCL.
DR GO; GO:0044325; F:transmembrane transporter binding; IPI:BHF-UCL.
DR GO; GO:0005244; F:voltage-gated ion channel activity; IEA:UniProtKB-KW.
DR GO; GO:0086006; F:voltage-gated sodium channel activity involved in cardiac muscle cell action potential; IDA:BHF-UCL.
DR GO; GO:0086014; P:atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0086002; P:cardiac muscle cell action potential involved in contraction; IMP:BHF-UCL.
DR GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0051899; P:membrane depolarization; IDA:BHF-UCL.
DR GO; GO:0086010; P:membrane depolarization during action potential; IDA:BHF-UCL.
DR GO; GO:0086012; P:membrane depolarization during cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0007399; P:nervous system development; IEA:Ensembl.
DR GO; GO:0010460; P:positive regulation of heart rate; ISS:BHF-UCL.
DR GO; GO:0010765; P:positive regulation of sodium ion transport; IDA:BHF-UCL.
DR GO; GO:0072659; P:protein localization to plasma membrane; IMP:BHF-UCL.
DR GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
DR GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
DR GO; GO:2000649; P:regulation of sodium ion transmembrane transporter activity; IMP:BHF-UCL.
DR GO; GO:0060373; P:regulation of ventricular cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
DR GO; GO:0086015; P:SA node cell action potential; ISS:BHF-UCL.
DR GO; GO:0019233; P:sensory perception of pain; IEA:Ensembl.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IDA:BHF-UCL.
DR GO; GO:0006814; P:sodium ion transport; NAS:UniProtKB.
DR GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR027098; Na_channel_b1/b3.
DR InterPro; IPR027096; Na_channel_b3.
DR PANTHER; PTHR10546; PTHR10546; 1.
DR PANTHER; PTHR10546:SF1; PTHR10546:SF1; 1.
DR Pfam; PF07686; V-set; 1.
DR SMART; SM00409; IG; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Atrial fibrillation; Brugada syndrome; Disease variant;
KW Disulfide bond; Glycoprotein; Immunoglobulin domain; Ion channel;
KW Ion transport; Membrane; Reference proteome; Signal; Sodium;
KW Sodium channel; Sodium transport; Transmembrane; Transmembrane helix;
KW Transport; Voltage-gated channel.
FT SIGNAL 1..22
FT /evidence="ECO:0000250"
FT CHAIN 23..215
FT /note="Sodium channel subunit beta-3"
FT /id="PRO_0000014933"
FT TOPO_DOM 23..159
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 160..180
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 181..215
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 32..154
FT /note="Ig-like C2-type"
FT CARBOHYD 95
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 109
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 113
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 121
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 26..48
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 45..120
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 6
FT /note="R -> K (in ATFB16; affects steady-state channel
FT inactivation; dbSNP:rs587777558)"
FT /evidence="ECO:0000269|PubMed:21051419"
FT /id="VAR_071314"
FT VARIANT 10
FT /note="L -> P (in BRGDA7 AND ATFB16; unknown pathological
FT significance; results in a decrease in peak sodium current
FT density; dbSNP:rs121918282)"
FT /evidence="ECO:0000269|PubMed:20031595,
FT ECO:0000269|PubMed:21051419"
FT /id="VAR_062529"
FT VARIANT 54
FT /note="V -> G (found in a case of idiopathic ventricular
FT fibrillation; unknown pathological significance;
FT dbSNP:rs587777555)"
FT /evidence="ECO:0000269|PubMed:20042427"
FT /id="VAR_065232"
FT VARIANT 89
FT /note="Q -> L (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035521"
FT VARIANT 97
FT /note="S -> N (in dbSNP:rs35174956)"
FT /id="VAR_049928"
FT VARIANT 130
FT /note="A -> V (in ATFB16; results in decreased sodium
FT current density; dbSNP:rs587777556)"
FT /evidence="ECO:0000269|PubMed:20558140"
FT /id="VAR_071315"
FT VARIANT 161
FT /note="M -> T (in ATFB16; results in a decrease in peak
FT sodium current density; dbSNP:rs587777557)"
FT /evidence="ECO:0000269|PubMed:21051419"
FT /id="VAR_071316"
FT VARIANT 195
FT /note="A -> T (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs375755770)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035522"
FT STRAND 34..36
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 41..43
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 57..65
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 72..82
FT /evidence="ECO:0007829|PDB:4L1D"
FT TURN 87..90
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 91..94
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 100..102
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 105..107
FT /evidence="ECO:0007829|PDB:4L1D"
FT HELIX 112..114
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 116..125
FT /evidence="ECO:0007829|PDB:4L1D"
FT STRAND 135..145
FT /evidence="ECO:0007829|PDB:4L1D"
SQ SEQUENCE 215 AA; 24702 MW; 70F6C604E9E26662 CRC64;
MPAFNRLFPL ASLVLIYWVS VCFPVCVEVP SETEAVQGNP MKLRCISCMK REEVEATTVV
EWFYRPEGGK DFLIYEYRNG HQEVESPFQG RLQWNGSKDL QDVSITVLNV TLNDSGLYTC
NVSREFEFEA HRPFVKTTRL IPLRVTEEAG EDFTSVVSEI MMYILLVFLT LWLLIEMIYC
YRKVSKAEEA AQENASDYLA IPSENKENSA VPVEE
