NT2NC_HUMAN
ID NT2NC_HUMAN Reviewed; 293 AA.
AC P0DPK4; A0A494C1K9;
DT 12-SEP-2018, integrated into UniProtKB/Swiss-Prot.
DT 03-AUG-2022, sequence version 2.
DT 03-AUG-2022, entry version 21.
DE RecName: Full=Notch homolog 2 N-terminal-like protein C {ECO:0000303|PubMed:29856954, ECO:0000303|PubMed:29856955};
GN Name=NOTCH2NLC {ECO:0000303|PubMed:29856954, ECO:0000303|PubMed:29856955,
GN ECO:0000312|HGNC:HGNC:53924};
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NOTCH2, TISSUE
RP SPECIFICITY, AND INVOLVEMENT IN CHROMOSOME 1Q21.1 DELETION/DUPLICATION
RP SYNDROME.
RX PubMed=29856954; DOI=10.1016/j.cell.2018.03.051;
RA Fiddes I.T., Lodewijk G.A., Mooring M., Bosworth C.M., Ewing A.D.,
RA Mantalas G.L., Novak A.M., van den Bout A., Bishara A., Rosenkrantz J.L.,
RA Lorig-Roach R., Field A.R., Haeussler M., Russo L., Bhaduri A.,
RA Nowakowski T.J., Pollen A.A., Dougherty M.L., Nuttle X., Addor M.C.,
RA Zwolinski S., Katzman S., Kriegstein A., Eichler E.E., Salama S.R.,
RA Jacobs F.M.J., Haussler D.;
RT "Human-specific NOTCH2NL genes affect Notch signaling and cortical
RT neurogenesis.";
RL Cell 173:1356-1369(2018).
RN [3]
RP FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=29856955; DOI=10.1016/j.cell.2018.03.067;
RA Suzuki I.K., Gacquer D., Van Heurck R., Kumar D., Wojno M., Bilheu A.,
RA Herpoel A., Lambert N., Cheron J., Polleux F., Detours V.,
RA Vanderhaeghen P.;
RT "Human-specific NOTCH2NL genes expand cortical neurogenesis through
RT Delta/Notch regulation.";
RL Cell 173:1370-1384(2018).
RN [4]
RP FUNCTION.
RX PubMed=29561261; DOI=10.7554/elife.32332;
RA Florio M., Heide M., Pinson A., Brandl H., Albert M., Winkler S.,
RA Wimberger P., Huttner W.B., Hiller M.;
RT "Evolution and cell-type specificity of human-specific genes preferentially
RT expressed in progenitors of fetal neocortex.";
RL Elife 7:0-0(2018).
RN [5]
RP INVOLVEMENT IN NIID.
RX PubMed=31178126; DOI=10.1016/j.ajhg.2019.05.013;
RA Tian Y., Wang J.L., Huang W., Zeng S., Jiao B., Liu Z., Chen Z., Li Y.,
RA Wang Y., Min H.X., Wang X.J., You Y., Zhang R.X., Chen X.Y., Yi F.,
RA Zhou Y.F., Long H.Y., Zhou C.J., Hou X., Wang J.P., Xie B., Liang F.,
RA Yang Z.Y., Sun Q.Y., Allen E.G., Shafik A.M., Kong H.E., Guo J.F.,
RA Yan X.X., Hu Z.M., Xia K., Jiang H., Xu H.W., Duan R.H., Jin P., Tang B.S.,
RA Shen L.;
RT "Expansion of human-specific GGC repeat in neuronal intranuclear inclusion
RT disease-related disorders.";
RL Am. J. Hum. Genet. 105:166-176(2019).
RN [6]
RP INVOLVEMENT IN NIID.
RX PubMed=31332381; DOI=10.1038/s41588-019-0459-y;
RA Sone J., Mitsuhashi S., Fujita A., Mizuguchi T., Hamanaka K., Mori K.,
RA Koike H., Hashiguchi A., Takashima H., Sugiyama H., Kohno Y., Takiyama Y.,
RA Maeda K., Doi H., Koyano S., Takeuchi H., Kawamoto M., Kohara N., Ando T.,
RA Ieda T., Kita Y., Kokubun N., Tsuboi Y., Katoh K., Kino Y., Katsuno M.,
RA Iwasaki Y., Yoshida M., Tanaka F., Suzuki I.K., Frith M.C., Matsumoto N.,
RA Sobue G.;
RT "Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC
RT associated with neuronal intranuclear inclusion disease.";
RL Nat. Genet. 51:1215-1221(2019).
RN [7]
RP INVOLVEMENT IN NIID.
RX PubMed=31332380; DOI=10.1038/s41588-019-0458-z;
RA Ishiura H., Shibata S., Yoshimura J., Suzuki Y., Qu W., Doi K.,
RA Almansour M.A., Kikuchi J.K., Taira M., Mitsui J., Takahashi Y.,
RA Ichikawa Y., Mano T., Iwata A., Harigaya Y., Matsukawa M.K., Matsukawa T.,
RA Tanaka M., Shirota Y., Ohtomo R., Kowa H., Date H., Mitsue A., Hatsuta H.,
RA Morimoto S., Murayama S., Shiio Y., Saito Y., Mitsutake A., Kawai M.,
RA Sasaki T., Sugiyama Y., Hamada M., Ohtomo G., Terao Y., Nakazato Y.,
RA Takeda A., Sakiyama Y., Umeda-Kameyama Y., Shinmi J., Ogata K., Kohno Y.,
RA Lim S.Y., Tan A.H., Shimizu J., Goto J., Nishino I., Toda T., Morishita S.,
RA Tsuji S.;
RT "Noncoding CGG repeat expansions in neuronal intranuclear inclusion
RT disease, oculopharyngodistal myopathy and an overlapping disease.";
RL Nat. Genet. 51:1222-1232(2019).
RN [8]
RP INVOLVEMENT IN OPDM3 (ISOFORM 2).
RX PubMed=33239111; DOI=10.1186/s40478-020-01084-4;
RA Ogasawara M., Iida A., Kumutpongpanich T., Ozaki A., Oya Y., Konishi H.,
RA Nakamura A., Abe R., Takai H., Hanajima R., Doi H., Tanaka F., Nakamura H.,
RA Nonaka I., Wang Z., Hayashi S., Noguchi S., Nishino I.;
RT "CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy
RT with neurological manifestations.";
RL Acta Neuropathol. Commun. 8:204-204(2020).
RN [9]
RP ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), INVOLVEMENT IN OPDM3, AND
RP SUBCELLULAR LOCATION.
RX PubMed=33693509; DOI=10.1093/brain/awab077;
RA Yu J., Deng J., Guo X., Shan J., Luan X., Cao L., Zhao J., Yu M., Zhang W.,
RA Lv H., Xie Z., Meng L., Zheng Y., Zhao Y., Gang Q., Wang Q., Liu J.,
RA Zhu M., Zhou B., Li P., Liu Y., Wang Y., Yan C., Hong D., Yuan Y., Wang Z.;
RT "The GGC repeat expansion in NOTCH2NLC is associated with
RT oculopharyngodistal myopathy type 3.";
RL Brain 144:1819-1832(2021).
RN [10]
RP ERRATUM OF PUBMED:33693509.
RX PubMed=34435201; DOI=10.1093/brain/awab266;
RA Yu J., Deng J., Guo X., Shan J., Luan X., Cao L., Zhao J., Yu M., Zhang W.,
RA Lv H., Xie Z., Meng L., Zheng Y., Zhao Y., Gang Q., Wang Q., Liu J.,
RA Zhu M., Zhou B., Li P., Liu Y., Wang Y., Yan C., Hong D., Yuan Y., Wang Z.;
RL Brain 144:e81-e81(2021).
RN [11]
RP INVOLVEMENT IN ETM6.
RX PubMed=31819945; DOI=10.1093/brain/awz372;
RA Sun Q.Y., Xu Q., Tian Y., Hu Z.M., Qin L.X., Yang J.X., Huang W., Xue J.,
RA Li J.C., Zeng S., Wang Y., Min H.X., Chen X.Y., Wang J.P., Xie B.,
RA Liang F., Zhang H.N., Wang C.Y., Lei L.F., Yan X.X., Xu H.W., Duan R.H.,
RA Xia K., Liu J.Y., Jiang H., Shen L., Guo J.F., Tang B.S.;
RT "Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated
RT with essential tremor.";
RL Brain 143:222-233(2020).
RN [12]
RP ERRATUM OF PUBMED:31819945.
RX PubMed=32333675; DOI=10.1093/brain/awaa007;
RA Sun Q.Y., Xu Q., Tian Y., Hu Z.M., Qin L.X., Yang J.X., Huang W., Xue J.,
RA Li J.C., Zeng S., Wang Y., Min H.X., Chen X.Y., Wang J.P., Xie B.,
RA Liang F., Zhang H.N., Wang C.Y., Lei L.F., Yan X.X., Xu H.W., Duan R.H.,
RA Xia K., Liu J.Y., Jiang H., Shen L., Guo J.F., Tang B.S.;
RT "Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated
RT with essential tremor.";
RL Brain 143:e24-e24(2020).
CC -!- FUNCTION: Human-specific protein that promotes neural progenitor
CC proliferation and evolutionary expansion of the brain neocortex by
CC regulating the Notch signaling pathway (PubMed:29856954,
CC PubMed:29856955, PubMed:29561261). Able to promote neural progenitor
CC self-renewal, possibly by down-regulating neuronal differentiation
CC genes, thereby delaying the differentiation of neuronal progenitors and
CC leading to an overall final increase in neuronal production
CC (PubMed:29856954). Acts by enhancing the Notch signaling pathway via
CC two different mechanisms that probably work in parallel to reach the
CC same effect (PubMed:29856954). Enhances Notch signaling pathway in a
CC non-cell-autonomous manner via direct interaction with NOTCH2
CC (PubMed:29856954). Also promotes Notch signaling pathway in a cell-
CC autonomous manner through inhibition of cis DLL1-NOTCH2 interactions,
CC which promotes neuronal differentiation (By similarity).
CC {ECO:0000250|UniProtKB:P0DPK3, ECO:0000269|PubMed:29561261,
CC ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.
CC -!- SUBUNIT: Interacts with NOTCH2 (PubMed:29856954). Interacts with DLL1;
CC the interaction is direct (By similarity).
CC {ECO:0000250|UniProtKB:P0DPK3, ECO:0000269|PubMed:29856954}.
CC -!- INTERACTION:
CC P0DPK4; O43184-4: ADAM12; NbExp=3; IntAct=EBI-22310682, EBI-12006944;
CC P0DPK4; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-22310682, EBI-10173507;
CC P0DPK4; P21549: AGXT; NbExp=3; IntAct=EBI-22310682, EBI-727098;
CC P0DPK4; Q8IZ83: ALDH16A1; NbExp=3; IntAct=EBI-22310682, EBI-1044483;
CC P0DPK4; P05187: ALPP; NbExp=3; IntAct=EBI-22310682, EBI-1211484;
CC P0DPK4; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-22310682, EBI-11954519;
CC P0DPK4; P29972: AQP1; NbExp=3; IntAct=EBI-22310682, EBI-745213;
CC P0DPK4; Q7Z3C6-3: ATG9A; NbExp=3; IntAct=EBI-22310682, EBI-12006308;
CC P0DPK4; P30049: ATP5F1D; NbExp=3; IntAct=EBI-22310682, EBI-1049505;
CC P0DPK4; P50895: BCAM; NbExp=3; IntAct=EBI-22310682, EBI-10212133;
CC P0DPK4; P18075: BMP7; NbExp=3; IntAct=EBI-22310682, EBI-1035195;
CC P0DPK4; Q0VDD7-2: BRME1; NbExp=3; IntAct=EBI-22310682, EBI-12040255;
CC P0DPK4; Q9Y2V2: CARHSP1; NbExp=3; IntAct=EBI-22310682, EBI-718719;
CC P0DPK4; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-22310682, EBI-744545;
CC P0DPK4; Q8TC90: CCER1; NbExp=3; IntAct=EBI-22310682, EBI-746041;
CC P0DPK4; Q04900: CD164; NbExp=3; IntAct=EBI-22310682, EBI-2115896;
CC P0DPK4; Q8N6W0: CELF5; NbExp=3; IntAct=EBI-22310682, EBI-12139335;
CC P0DPK4; Q8TCT0: CERK; NbExp=3; IntAct=EBI-22310682, EBI-10274247;
CC P0DPK4; Q9NX63: CHCHD3; NbExp=3; IntAct=EBI-22310682, EBI-743375;
CC P0DPK4; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-22310682, EBI-741528;
CC P0DPK4; Q9H2X0: CHRD; NbExp=3; IntAct=EBI-22310682, EBI-947551;
CC P0DPK4; P07510-2: CHRNG; NbExp=3; IntAct=EBI-22310682, EBI-11979451;
CC P0DPK4; Q8NE01: CNNM3; NbExp=3; IntAct=EBI-22310682, EBI-741032;
CC P0DPK4; P27658: COL8A1; NbExp=5; IntAct=EBI-22310682, EBI-747133;
CC P0DPK4; Q02930-3: CREB5; NbExp=3; IntAct=EBI-22310682, EBI-10192698;
CC P0DPK4; P06850: CRH; NbExp=3; IntAct=EBI-22310682, EBI-3870390;
CC P0DPK4; Q49AN0: CRY2; NbExp=3; IntAct=EBI-22310682, EBI-2212355;
CC P0DPK4; P09228: CST2; NbExp=3; IntAct=EBI-22310682, EBI-8832659;
CC P0DPK4; Q9H4G1: CST9L; NbExp=3; IntAct=EBI-22310682, EBI-3923092;
CC P0DPK4; Q9NSA3: CTNNBIP1; NbExp=3; IntAct=EBI-22310682, EBI-747082;
CC P0DPK4; Q9UBR2: CTSZ; NbExp=3; IntAct=EBI-22310682, EBI-8636823;
CC P0DPK4; Q6ZMK1-3: CYHR1; NbExp=3; IntAct=EBI-22310682, EBI-11997340;
CC P0DPK4; Q08AG9: CYP21A2; NbExp=3; IntAct=EBI-22310682, EBI-14156412;
CC P0DPK4; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-22310682, EBI-3867333;
CC P0DPK4; Q8NCG7: DAGLB; NbExp=3; IntAct=EBI-22310682, EBI-721948;
CC P0DPK4; Q5D0E6-2: DALRD3; NbExp=3; IntAct=EBI-22310682, EBI-9090939;
CC P0DPK4; P09172: DBH; NbExp=3; IntAct=EBI-22310682, EBI-8589586;
CC P0DPK4; P52824: DGKQ; NbExp=3; IntAct=EBI-22310682, EBI-4401238;
CC P0DPK4; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-22310682, EBI-746300;
CC P0DPK4; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-22310682, EBI-9679045;
CC P0DPK4; Q92608: DOCK2; NbExp=3; IntAct=EBI-22310682, EBI-448771;
CC P0DPK4; P21918: DRD5; NbExp=3; IntAct=EBI-22310682, EBI-12139313;
CC P0DPK4; Q9NPA0: EMC7; NbExp=3; IntAct=EBI-22310682, EBI-6309137;
CC P0DPK4; P00742: F10; NbExp=3; IntAct=EBI-22310682, EBI-719750;
CC P0DPK4; O95864-3: FADS2; NbExp=3; IntAct=EBI-22310682, EBI-12057609;
CC P0DPK4; A4D161: FAM221A; NbExp=3; IntAct=EBI-22310682, EBI-11960181;
CC P0DPK4; Q8NEG0: FAM71C; NbExp=3; IntAct=EBI-22310682, EBI-752049;
CC P0DPK4; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-22310682, EBI-6658203;
CC P0DPK4; Q969U6: FBXW5; NbExp=3; IntAct=EBI-22310682, EBI-741068;
CC P0DPK4; O43559: FRS3; NbExp=3; IntAct=EBI-22310682, EBI-725515;
CC P0DPK4; Q9BXU8: FTHL17; NbExp=3; IntAct=EBI-22310682, EBI-12156897;
CC P0DPK4; Q9ULW2: FZD10; NbExp=3; IntAct=EBI-22310682, EBI-8803802;
CC P0DPK4; P43220: GLP1R; NbExp=3; IntAct=EBI-22310682, EBI-7466542;
CC P0DPK4; Q6IB77-2: GLYAT; NbExp=3; IntAct=EBI-22310682, EBI-12142423;
CC P0DPK4; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-22310682, EBI-11975289;
CC P0DPK4; P09211: GSTP1; NbExp=3; IntAct=EBI-22310682, EBI-353467;
CC P0DPK4; Q9GZV7: HAPLN2; NbExp=3; IntAct=EBI-22310682, EBI-11956675;
CC P0DPK4; P69905: HBA2; NbExp=3; IntAct=EBI-22310682, EBI-714680;
CC P0DPK4; P02008: HBZ; NbExp=3; IntAct=EBI-22310682, EBI-719843;
CC P0DPK4; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-22310682, EBI-14103818;
CC P0DPK4; P08631-2: HCK; NbExp=3; IntAct=EBI-22310682, EBI-9834454;
CC P0DPK4; Q03014: HHEX; NbExp=3; IntAct=EBI-22310682, EBI-747421;
CC P0DPK4; P49639: HOXA1; NbExp=3; IntAct=EBI-22310682, EBI-740785;
CC P0DPK4; P17482: HOXB9; NbExp=3; IntAct=EBI-22310682, EBI-745290;
CC P0DPK4; P31273: HOXC8; NbExp=3; IntAct=EBI-22310682, EBI-1752118;
CC P0DPK4; P37235: HPCAL1; NbExp=3; IntAct=EBI-22310682, EBI-749311;
CC P0DPK4; Q96MM6: HSPA12B; NbExp=3; IntAct=EBI-22310682, EBI-10291310;
CC P0DPK4; Q14773-3: ICAM4; NbExp=3; IntAct=EBI-22310682, EBI-10233928;
CC P0DPK4; P22301: IL10; NbExp=3; IntAct=EBI-22310682, EBI-1031632;
CC P0DPK4; Q9C086: INO80B; NbExp=3; IntAct=EBI-22310682, EBI-715611;
CC P0DPK4; P01308: INS; NbExp=3; IntAct=EBI-22310682, EBI-7090529;
CC P0DPK4; P05107: ITGB2; NbExp=3; IntAct=EBI-22310682, EBI-300173;
CC P0DPK4; P16144-2: ITGB4; NbExp=3; IntAct=EBI-22310682, EBI-11051601;
CC P0DPK4; P18084: ITGB5; NbExp=3; IntAct=EBI-22310682, EBI-1223434;
CC P0DPK4; Q15040: JOSD1; NbExp=3; IntAct=EBI-22310682, EBI-2510602;
CC P0DPK4; Q9ULS6: KCNS2; NbExp=3; IntAct=EBI-22310682, EBI-10323864;
CC P0DPK4; Q96SI1-2: KCTD15; NbExp=3; IntAct=EBI-22310682, EBI-12382297;
CC P0DPK4; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-22310682, EBI-6426443;
CC P0DPK4; O60259: KLK8; NbExp=3; IntAct=EBI-22310682, EBI-3915857;
CC P0DPK4; Q5T749: KPRP; NbExp=3; IntAct=EBI-22310682, EBI-10981970;
CC P0DPK4; P78385: KRT83; NbExp=3; IntAct=EBI-22310682, EBI-10221390;
CC P0DPK4; P60014: KRTAP10-10; NbExp=3; IntAct=EBI-22310682, EBI-11955579;
CC P0DPK4; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-22310682, EBI-10172150;
CC P0DPK4; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-22310682, EBI-10171774;
CC P0DPK4; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-22310682, EBI-10172052;
CC P0DPK4; P59990: KRTAP12-1; NbExp=3; IntAct=EBI-22310682, EBI-10210845;
CC P0DPK4; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-22310682, EBI-10176379;
CC P0DPK4; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-22310682, EBI-11953334;
CC P0DPK4; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-22310682, EBI-10176396;
CC P0DPK4; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-22310682, EBI-11953846;
CC P0DPK4; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-22310682, EBI-10241252;
CC P0DPK4; Q3LI77: KRTAP13-4; NbExp=3; IntAct=EBI-22310682, EBI-11953996;
CC P0DPK4; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-22310682, EBI-14065470;
CC P0DPK4; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-22310682, EBI-3957672;
CC P0DPK4; Q9BYQ6: KRTAP4-11; NbExp=3; IntAct=EBI-22310682, EBI-10302392;
CC P0DPK4; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-22310682, EBI-10172511;
CC P0DPK4; Q9BYR3: KRTAP4-4; NbExp=4; IntAct=EBI-22310682, EBI-11958132;
CC P0DPK4; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-22310682, EBI-11993254;
CC P0DPK4; Q6L8G4: KRTAP5-11; NbExp=3; IntAct=EBI-22310682, EBI-11993296;
CC P0DPK4; Q6L8H2: KRTAP5-3; NbExp=3; IntAct=EBI-22310682, EBI-11974251;
CC P0DPK4; Q6L8H1: KRTAP5-4; NbExp=3; IntAct=EBI-22310682, EBI-11963072;
CC P0DPK4; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-22310682, EBI-10250562;
CC P0DPK4; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-22310682, EBI-3958099;
CC P0DPK4; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-22310682, EBI-1044640;
CC P0DPK4; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-22310682, EBI-1043191;
CC P0DPK4; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-22310682, EBI-11958364;
CC P0DPK4; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-22310682, EBI-11962058;
CC P0DPK4; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-22310682, EBI-10245913;
CC P0DPK4; Q5T752: LCE1D; NbExp=3; IntAct=EBI-22310682, EBI-11741311;
CC P0DPK4; Q5T753: LCE1E; NbExp=3; IntAct=EBI-22310682, EBI-11955335;
CC P0DPK4; Q5T754: LCE1F; NbExp=3; IntAct=EBI-22310682, EBI-11958008;
CC P0DPK4; O14633: LCE2B; NbExp=4; IntAct=EBI-22310682, EBI-11478468;
CC P0DPK4; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-22310682, EBI-11973993;
CC P0DPK4; Q5TA82: LCE2D; NbExp=3; IntAct=EBI-22310682, EBI-10246750;
CC P0DPK4; Q5TA76: LCE3A; NbExp=3; IntAct=EBI-22310682, EBI-9394625;
CC P0DPK4; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-22310682, EBI-10245291;
CC P0DPK4; Q9BYE3: LCE3D; NbExp=3; IntAct=EBI-22310682, EBI-6658837;
CC P0DPK4; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-22310682, EBI-10245456;
CC P0DPK4; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-22310682, EBI-10246358;
CC P0DPK4; Q5TCM9: LCE5A; NbExp=3; IntAct=EBI-22310682, EBI-11955689;
CC P0DPK4; Q8IXW0: LMNTD2; NbExp=3; IntAct=EBI-22310682, EBI-12028858;
CC P0DPK4; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-22310682, EBI-739832;
CC P0DPK4; Q6PJG9: LRFN4; NbExp=3; IntAct=EBI-22310682, EBI-7910762;
CC P0DPK4; Q9Y5Y7: LYVE1; NbExp=3; IntAct=EBI-22310682, EBI-10329546;
CC P0DPK4; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-22310682, EBI-2683507;
CC P0DPK4; O60336: MAPKBP1; NbExp=3; IntAct=EBI-22310682, EBI-947402;
CC P0DPK4; P08582-2: MELTF; NbExp=3; IntAct=EBI-22310682, EBI-10195914;
CC P0DPK4; Q14CX5: MFSD13A; NbExp=3; IntAct=EBI-22310682, EBI-12120958;
CC P0DPK4; P00540: MOS; NbExp=3; IntAct=EBI-22310682, EBI-1757866;
CC P0DPK4; Q9NV56: MRGBP; NbExp=3; IntAct=EBI-22310682, EBI-399076;
CC P0DPK4; Q9NQ50: MRPL40; NbExp=3; IntAct=EBI-22310682, EBI-1053902;
CC P0DPK4; Q13330: MTA1; NbExp=3; IntAct=EBI-22310682, EBI-714236;
CC P0DPK4; Q9BW11: MXD3; NbExp=3; IntAct=EBI-22310682, EBI-741574;
CC P0DPK4; P50539-3: MXI1; NbExp=3; IntAct=EBI-22310682, EBI-10211940;
CC P0DPK4; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-22310682, EBI-2858213;
CC P0DPK4; Q92692-2: NECTIN2; NbExp=3; IntAct=EBI-22310682, EBI-6979889;
CC P0DPK4; Q9NQS3-2: NECTIN3; NbExp=3; IntAct=EBI-22310682, EBI-12106440;
CC P0DPK4; Q14511-2: NEDD9; NbExp=3; IntAct=EBI-22310682, EBI-11746523;
CC P0DPK4; P48645: NMU; NbExp=3; IntAct=EBI-22310682, EBI-10210351;
CC P0DPK4; Q9NQX5: NPDC1; NbExp=3; IntAct=EBI-22310682, EBI-748927;
CC P0DPK4; Q6NSM0: NR1D2; NbExp=3; IntAct=EBI-22310682, EBI-10250949;
CC P0DPK4; Q9P121-3: NTM; NbExp=3; IntAct=EBI-22310682, EBI-12027160;
CC P0DPK4; Q9HB63: NTN4; NbExp=3; IntAct=EBI-22310682, EBI-743459;
CC P0DPK4; O95897: OLFM2; NbExp=3; IntAct=EBI-22310682, EBI-721741;
CC P0DPK4; P32242: OTX1; NbExp=3; IntAct=EBI-22310682, EBI-740446;
CC P0DPK4; Q99571: P2RX4; NbExp=3; IntAct=EBI-22310682, EBI-2828248;
CC P0DPK4; Q99572: P2RX7; NbExp=3; IntAct=EBI-22310682, EBI-1753251;
CC P0DPK4; Q15077: P2RY6; NbExp=3; IntAct=EBI-22310682, EBI-10235794;
CC P0DPK4; Q92824-2: PCSK5; NbExp=3; IntAct=EBI-22310682, EBI-11956269;
CC P0DPK4; Q9HCN3: PGAP6; NbExp=3; IntAct=EBI-22310682, EBI-10310808;
CC P0DPK4; A2BDE7: PHLDA1; NbExp=3; IntAct=EBI-22310682, EBI-14084211;
CC P0DPK4; Q96S52: PIGS; NbExp=3; IntAct=EBI-22310682, EBI-2908273;
CC P0DPK4; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-22310682, EBI-12014286;
CC P0DPK4; P14222: PRF1; NbExp=3; IntAct=EBI-22310682, EBI-724466;
CC P0DPK4; P0CG20: PRR35; NbExp=3; IntAct=EBI-22310682, EBI-11986293;
CC P0DPK4; P25786: PSMA1; NbExp=3; IntAct=EBI-22310682, EBI-359352;
CC P0DPK4; Q13308: PTK7; NbExp=3; IntAct=EBI-22310682, EBI-2803245;
CC P0DPK4; Q8WUK0: PTPMT1; NbExp=3; IntAct=EBI-22310682, EBI-7199479;
CC P0DPK4; P15151: PVR; NbExp=3; IntAct=EBI-22310682, EBI-3919694;
CC P0DPK4; Q9Y2K5: R3HDM2; NbExp=3; IntAct=EBI-22310682, EBI-948428;
CC P0DPK4; Q8TBN0: RAB3IL1; NbExp=3; IntAct=EBI-22310682, EBI-743796;
CC P0DPK4; O60896: RAMP3; NbExp=3; IntAct=EBI-22310682, EBI-720447;
CC P0DPK4; Q9Y272: RASD1; NbExp=3; IntAct=EBI-22310682, EBI-740818;
CC P0DPK4; Q6P9E2: RECK; NbExp=3; IntAct=EBI-22310682, EBI-10253121;
CC P0DPK4; Q86WX3: RPS19BP1; NbExp=3; IntAct=EBI-22310682, EBI-4479407;
CC P0DPK4; Q86UN2: RTN4RL1; NbExp=3; IntAct=EBI-22310682, EBI-10258951;
CC P0DPK4; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-22310682, EBI-748391;
CC P0DPK4; Q13214-2: SEMA3B; NbExp=3; IntAct=EBI-22310682, EBI-11017428;
CC P0DPK4; Q9C0C4: SEMA4C; NbExp=3; IntAct=EBI-22310682, EBI-10303490;
CC P0DPK4; Q9NUL5-4: SHFL; NbExp=3; IntAct=EBI-22310682, EBI-11955083;
CC P0DPK4; O76082: SLC22A5; NbExp=3; IntAct=EBI-22310682, EBI-9846338;
CC P0DPK4; Q9UHI7-3: SLC23A1; NbExp=3; IntAct=EBI-22310682, EBI-11998660;
CC P0DPK4; Q8N370: SLC43A2; NbExp=3; IntAct=EBI-22310682, EBI-10265149;
CC P0DPK4; Q92911: SLC5A5; NbExp=3; IntAct=EBI-22310682, EBI-12313867;
CC P0DPK4; Q9NP91: SLC6A20; NbExp=3; IntAct=EBI-22310682, EBI-10311198;
CC P0DPK4; P49901: SMCP; NbExp=3; IntAct=EBI-22310682, EBI-750494;
CC P0DPK4; Q86W54-2: SPATA24; NbExp=3; IntAct=EBI-22310682, EBI-12041693;
CC P0DPK4; Q6RVD6: SPATA8; NbExp=3; IntAct=EBI-22310682, EBI-8635958;
CC P0DPK4; Q9UQ90: SPG7; NbExp=3; IntAct=EBI-22310682, EBI-717201;
CC P0DPK4; Q8IUH8: SPPL2C; NbExp=3; IntAct=EBI-22310682, EBI-14064968;
CC P0DPK4; O43609: SPRY1; NbExp=3; IntAct=EBI-22310682, EBI-3866665;
CC P0DPK4; Q99469: STAC; NbExp=3; IntAct=EBI-22310682, EBI-2652799;
CC P0DPK4; O75716: STK16; NbExp=3; IntAct=EBI-22310682, EBI-749295;
CC P0DPK4; Q9BX59: TAPBPL; NbExp=3; IntAct=EBI-22310682, EBI-12017416;
CC P0DPK4; Q9Y4C2-2: TCAF1; NbExp=3; IntAct=EBI-22310682, EBI-11974855;
CC P0DPK4; Q9BT49: THAP7; NbExp=3; IntAct=EBI-22310682, EBI-741350;
CC P0DPK4; Q08117-2: TLE5; NbExp=3; IntAct=EBI-22310682, EBI-11741437;
CC P0DPK4; Q9UIK5: TMEFF2; NbExp=3; IntAct=EBI-22310682, EBI-11423693;
CC P0DPK4; Q86TG1: TMEM150A; NbExp=3; IntAct=EBI-22310682, EBI-2799342;
CC P0DPK4; Q96KP6: TNIP3; NbExp=3; IntAct=EBI-22310682, EBI-2509913;
CC P0DPK4; Q63HR2: TNS2; NbExp=3; IntAct=EBI-22310682, EBI-949753;
CC P0DPK4; Q8WVR3: TRAPPC14; NbExp=3; IntAct=EBI-22310682, EBI-719893;
CC P0DPK4; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-22310682, EBI-5235829;
CC P0DPK4; Q12815: TROAP; NbExp=3; IntAct=EBI-22310682, EBI-2349743;
CC P0DPK4; O14817: TSPAN4; NbExp=3; IntAct=EBI-22310682, EBI-8652667;
CC P0DPK4; P49638: TTPA; NbExp=3; IntAct=EBI-22310682, EBI-10210710;
CC P0DPK4; Q9BRU9: UTP23; NbExp=3; IntAct=EBI-22310682, EBI-5457544;
CC P0DPK4; Q9UBK9: UXT; NbExp=3; IntAct=EBI-22310682, EBI-357355;
CC P0DPK4; Q6EMK4: VASN; NbExp=3; IntAct=EBI-22310682, EBI-10249550;
CC P0DPK4; Q64LD2-2: WDR25; NbExp=3; IntAct=EBI-22310682, EBI-12032042;
CC P0DPK4; Q8WTX9: ZDHHC1; NbExp=3; IntAct=EBI-22310682, EBI-2818796;
CC P0DPK4; Q15973: ZNF124; NbExp=3; IntAct=EBI-22310682, EBI-2555767;
CC P0DPK4; Q9P2F9: ZNF319; NbExp=3; IntAct=EBI-22310682, EBI-11993110;
CC P0DPK4; Q9Y3S2: ZNF330; NbExp=3; IntAct=EBI-22310682, EBI-373456;
CC P0DPK4; Q9H9D4: ZNF408; NbExp=3; IntAct=EBI-22310682, EBI-347633;
CC P0DPK4; Q96IQ9: ZNF414; NbExp=3; IntAct=EBI-22310682, EBI-744257;
CC P0DPK4; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-22310682, EBI-740727;
CC P0DPK4; Q8IYI8: ZNF440; NbExp=3; IntAct=EBI-22310682, EBI-726439;
CC P0DPK4; Q9NWS9-2: ZNF446; NbExp=3; IntAct=EBI-22310682, EBI-740232;
CC P0DPK4; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-22310682, EBI-10486136;
CC P0DPK4; Q9UK33: ZNF580; NbExp=3; IntAct=EBI-22310682, EBI-746277;
CC P0DPK4; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-22310682, EBI-745520;
CC P0DPK4; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-22310682, EBI-6427977;
CC P0DPK4; Q5T619: ZNF648; NbExp=3; IntAct=EBI-22310682, EBI-11985915;
CC P0DPK4; Q499Z4: ZNF672; NbExp=3; IntAct=EBI-22310682, EBI-12146251;
CC P0DPK4; Q8N393: ZNF786; NbExp=3; IntAct=EBI-22310682, EBI-10265203;
CC P0DPK4; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-22310682, EBI-11962574;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:29856954,
CC ECO:0000269|PubMed:33693509}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P0DPK4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P0DPK4-2; Sequence=VSP_061522;
CC -!- TISSUE SPECIFICITY: Expressed in radial glia neural stem cells during
CC cortical development. {ECO:0000269|PubMed:29856954}.
CC -!- DEVELOPMENTAL STAGE: Expressed at very low level during corticogenesis.
CC {ECO:0000269|PubMed:29856955}.
CC -!- DISEASE: Neuronal intranuclear inclusion disease (NIID) [MIM:603472]:
CC An autosomal dominant, slowly progressive, neurodegenerative disease
CC characterized by eosinophilic hyaline intranuclear inclusions in the
CC central and peripheral nervous system, and also in the visceral organs.
CC Clinical manifestations are variable and include pyramidal and
CC extrapyramidal symptoms, cerebellar ataxia, cognitive decline and
CC dementia, peripheral neuropathy, and autonomic dysfunction.
CC {ECO:0000269|PubMed:31178126, ECO:0000269|PubMed:31332380,
CC ECO:0000269|PubMed:31332381}. Note=The disease is caused by variants
CC affecting the gene represented in this entry. The molecular defect in
CC NOTCH2NLC is a CGG repeat expansion in the 5-prime untranslated region
CC of the gene. The expansion can be greater than one hundred repeat units
CC in patients, while healthy individuals have 5 to 43 repeats.
CC {ECO:0000269|PubMed:31178126, ECO:0000269|PubMed:31332380,
CC ECO:0000269|PubMed:31332381}.
CC -!- DISEASE: Note=Defects in NOTCH2NLC may be a cause of chromosome 1q21.1
CC deletion/duplication syndrome (PubMed:29856954). Deletions of NOTCH2NL
CC (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients
CC affected by microcephaly, whereas macrocephaly is observed in patients
CC with NOTCH2NL duplications (PubMed:29856954).
CC {ECO:0000269|PubMed:29856954}.
CC -!- DISEASE: Tremor, hereditary essential 6 (ETM6) [MIM:618866]: A form of
CC essential tremor, a common movement disorder mainly characterized by
CC postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial
CC muscles also may be involved. The condition can be aggravated by
CC emotions, hunger, fatigue and temperature extremes, and may cause a
CC functional disability or even incapacitation. ETM6 inheritance is
CC autosomal dominant. {ECO:0000269|PubMed:32333675}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Oculopharyngodistal myopathy 3 (OPDM3) [MIM:619473]: A form of
CC oculopharyngodistal myopathy, a rare hereditary muscle disease
CC characterized by progressive distal limb weakness, ptosis,
CC ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle
CC biopsy. In addition to muscular features, OPDM3 patients may develop
CC pigmentary retinopathy, peripheral neuropathy, or hearing loss.
CC Cognition is usually not affected, but there may be deficits or
CC psychiatric manifestations. Brain imaging tends to show a
CC leukoencephalopathy, often with a characteristic linear signal along
CC the corticomedullary junction on brain imaging. OPDM3 is a slowly
CC progressive form with an autosomal dominant transmission pattern, and
CC variable age at onset ranging from childhood to late adulthood.
CC {ECO:0000269|PubMed:33239111, ECO:0000269|PubMed:33693509}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry. The causative mutation is a heterozygous trinucleotide repeat
CC expansion (CGG) that results in expanded polyglycine (polyG) tract in
CC isoform 1. Mutant proteins may form aggregates that contribute to
CC toxicity and induce cell death. {ECO:0000269|PubMed:33693509}.
CC -!- MISCELLANEOUS: NOTCH2NLA, NOTCH2NLB and NOTCH2NLC paralogs arose
CC between 4 and 3 million years ago, after the separation of hominids
CC from the chimpanzee and during the early stages of the expansion of the
CC human cortex. {ECO:0000269|PubMed:29856954}.
CC -!- SIMILARITY: Belongs to the NOTCH family. {ECO:0000305}.
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DR EMBL; AC242842; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC242843; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS86015.1; -.
DR RefSeq; NP_982283.2; NM_203458.4.
DR RefSeq; XP_016855384.1; XM_016999895.1.
DR RefSeq; XP_016855385.1; XM_016999896.1.
DR RefSeq; XP_016855386.1; XM_016999897.1.
DR RefSeq; XP_016855387.1; XM_016999898.1.
DR RefSeq; XP_016858537.1; XM_017003048.1.
DR RefSeq; XP_016858538.1; XM_017003049.1.
DR RefSeq; XP_016858539.1; XM_017003050.1.
DR RefSeq; XP_016858540.1; XM_017003051.1.
DR AlphaFoldDB; P0DPK4; -.
DR SMR; P0DPK4; -.
DR IntAct; P0DPK4; 217.
DR GlyGen; P0DPK4; 2 sites.
DR jPOST; P0DPK4; -.
DR MassIVE; P0DPK4; -.
DR PeptideAtlas; P0DPK4; -.
DR DNASU; 388677; -.
DR Ensembl; ENST00000578189.1; ENSP00000462298.1; ENSG00000286219.2.
DR Ensembl; ENST00000652191.1; ENSP00000498514.1; ENSG00000286219.2.
DR GeneID; 388677; -.
DR KEGG; hsa:388677; -.
DR MANE-Select; ENST00000362074.8; ENSP00000354929.6; NM_203458.6; NP_982283.2.
DR CTD; 388677; -.
DR DisGeNET; 388677; -.
DR GeneCards; NOTCH2NLC; -.
DR HGNC; HGNC:53924; NOTCH2NLC.
DR HPA; ENSG00000286219; Low tissue specificity.
DR MalaCards; NOTCH2NLC; -.
DR MIM; 603472; phenotype.
DR MIM; 618025; gene.
DR MIM; 618866; phenotype.
DR MIM; 619473; phenotype.
DR neXtProt; NX_P0DPK4; -.
DR OpenTargets; ENSG00000264343; -.
DR Orphanet; 2289; Neuronal intranuclear inclusion disease.
DR Orphanet; 98897; Oculopharyngodistal myopathy.
DR VEuPathDB; HostDB:ENSG00000286219; -.
DR GeneTree; ENSGT00940000167308; -.
DR PathwayCommons; P0DPK4; -.
DR Pharos; P0DPK4; Tbio.
DR PRO; PR:P0DPK4; -.
DR Proteomes; UP000005640; Chromosome 1.
DR Bgee; ENSG00000286219; Expressed in lower esophagus mucosa and 101 other tissues.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0021987; P:cerebral cortex development; IDA:UniProtKB.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
DR GO; GO:0045747; P:positive regulation of Notch signaling pathway; IDA:UniProtKB.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR Pfam; PF00008; EGF; 3.
DR Pfam; PF07645; EGF_CA; 1.
DR SMART; SM00181; EGF; 5.
DR SMART; SM00179; EGF_CA; 4.
DR PROSITE; PS00010; ASX_HYDROXYL; 1.
DR PROSITE; PS00022; EGF_1; 5.
DR PROSITE; PS01186; EGF_2; 5.
DR PROSITE; PS50026; EGF_3; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Disulfide bond; EGF-like domain;
KW Glycoprotein; Neurodegeneration; Notch signaling pathway;
KW Reference proteome; Repeat; Secreted; Triplet repeat expansion.
FT CHAIN 1..293
FT /note="Notch homolog 2 N-terminal-like protein C"
FT /id="PRO_0000445071"
FT DOMAIN 42..81
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 82..120
FT /note="EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 123..161
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 162..198
FT /note="EGF-like 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 200..237
FT /note="EGF-like 5; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 239..276
FT /note="EGF-like 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT CARBOHYD 64
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 173
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 46..59
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 53..69
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 71..80
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 86..97
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 91..108
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 110..119
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 127..139
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 133..149
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 151..160
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 166..177
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 171..186
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 188..197
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 204..216
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 210..225
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 227..236
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 243..254
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 248..264
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT VAR_SEQ 1..57
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:33693509"
FT /id="VSP_061522"
SQ SEQUENCE 293 AA; 31544 MW; 54362DAF31455867 CRC64;
MWICPGGGGG GGGGGGGGDR EDARPAPLCC GRCWRSGCAA RPPRMCRDGY EPCVNEGMCV
TYHNGTGYCK CPEGFLGEYC QHRDPCEKNR CQNGGTCVAQ AMLGKATCRC ASGFTGEDCQ
YSTSHPCFVS RPCLNGGTCH MLSRDTYECT CQVGFTGKEC QWTDACLSHP CANGSTCTTV
ANQFSCKCLT GFTGQKCETD VNECDIPGHC QHGGTCLNLP GSYQCQCLQG FTGQYCDSLY
VPCAPSPCVN GGTCRQTGDF TFECNCLPET VRRGTELWER DREVWNGKEH DEN
