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Notch homolog 2 N-terminal-like protein A (Notch homolog 2 N-terminal-like protein)

 NT2NA_HUMAN             Reviewed;         236 AA.
Q7Z3S9; Q5BKT8; Q5VTG9; Q5XG84; Q6P192; Q8NC23; Q8WUQ9; Q96FY1;
20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
01-OCT-2003, sequence version 1.
17-JUN-2020, entry version 168.
RecName: Full=Notch homolog 2 N-terminal-like protein A {ECO:0000303|PubMed:29856954, ECO:0000303|PubMed:29856955};
AltName: Full=Notch homolog 2 N-terminal-like protein {ECO:0000303|PubMed:14673143};
Name=NOTCH2NLA {ECO:0000303|PubMed:29856954, ECO:0000303|PubMed:29856955,
ECO:0000312|HGNC:HGNC:31862};
Synonyms=N2N {ECO:0000303|PubMed:14673143},
NOTCH2NL {ECO:0000312|HGNC:HGNC:31862};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Retina;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
ILE-158.
TISSUE=Brain, Eye, Liver, Ovary, and Pancreas;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
INTERACTION WITH ELANE, SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING BY
ELANE, AND TISSUE SPECIFICITY.
PubMed=14673143; DOI=10.1128/mcb.24.1.58-70.2004;
Duan Z., Li F.-Q., Wechsler J., Meade-White K., Williams K., Benson K.F.,
Horwitz M.;
"A novel notch protein, N2N, targeted by neutrophil elastase and implicated
in hereditary neutropenia.";
Mol. Cell. Biol. 24:58-70(2004).
[6]
FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NOTCH2, TISSUE
SPECIFICITY, AND INVOLVEMENT IN CHROMOSOME 1Q21.1 DELETION/DUPLICATION
SYNDROME.
PubMed=29856954; DOI=10.1016/j.cell.2018.03.051;
Fiddes I.T., Lodewijk G.A., Mooring M., Bosworth C.M., Ewing A.D.,
Mantalas G.L., Novak A.M., van den Bout A., Bishara A., Rosenkrantz J.L.,
Lorig-Roach R., Field A.R., Haeussler M., Russo L., Bhaduri A.,
Nowakowski T.J., Pollen A.A., Dougherty M.L., Nuttle X., Addor M.C.,
Zwolinski S., Katzman S., Kriegstein A., Eichler E.E., Salama S.R.,
Jacobs F.M.J., Haussler D.;
"Human-specific NOTCH2NL genes affect Notch signaling and cortical
neurogenesis.";
Cell 173:1356-1369(2018).
[7]
FUNCTION, AND DEVELOPMENTAL STAGE.
PubMed=29856955; DOI=10.1016/j.cell.2018.03.067;
Suzuki I.K., Gacquer D., Van Heurck R., Kumar D., Wojno M., Bilheu A.,
Herpoel A., Lambert N., Cheron J., Polleux F., Detours V.,
Vanderhaeghen P.;
"Human-specific NOTCH2NL genes expand cortical neurogenesis through
Delta/Notch regulation.";
Cell 173:1370-1384(2018).
[8]
FUNCTION.
PubMed=29561261; DOI=10.7554/elife.32332;
Florio M., Heide M., Pinson A., Brandl H., Albert M., Winkler S.,
Wimberger P., Huttner W.B., Hiller M.;
"Evolution and cell-type specificity of human-specific genes preferentially
expressed in progenitors of fetal neocortex.";
Elife 7:0-0(2018).
-!- FUNCTION: Human-specific protein that promotes neural progenitor
proliferation and evolutionary expansion of the brain neocortex by
regulating the Notch signaling pathway (PubMed:29856954,
PubMed:29856955, PubMed:29561261). Able to promote neural progenitor
self-renewal, possibly by down-regulating neuronal differentiation
genes, thereby delaying the differentiation of neuronal progenitors and
leading to an overall final increase in neuronal production
(PubMed:29856954). Acts by enhancing the Notch signaling pathway via
two different mechanisms that probably work in parallel to reach the
same effect (PubMed:29856954). Enhances Notch signaling pathway in a
non-cell-autonomous manner via direct interaction with NOTCH2
(PubMed:29856954). Also promotes Notch signaling pathway in a cell-
autonomous manner through inhibition of cis DLL1-NOTCH2 interactions,
which promotes neuronal differentiation (By similarity).
{ECO:0000250|UniProtKB:P0DPK3, ECO:0000269|PubMed:29561261,
ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.
-!- SUBUNIT: Interacts with ELANE (PubMed:14673143). Interacts with NOTCH2
(PubMed:29856954). Interacts with DLL1; the interaction is direct (By
similarity). {ECO:0000250|UniProtKB:P0DPK3,
ECO:0000269|PubMed:14673143, ECO:0000269|PubMed:29856954}.
-!- INTERACTION:
Q7Z3S9; Q96HD9: ACY3; NbExp=3; IntAct=EBI-945833, EBI-3916242;
Q7Z3S9; P82987: ADAMTSL3; NbExp=3; IntAct=EBI-945833, EBI-10221726;
Q7Z3S9; Q6ZMM2-2: ADAMTSL5; NbExp=3; IntAct=EBI-945833, EBI-10254938;
Q7Z3S9; Q3MIX3: ADCK5; NbExp=4; IntAct=EBI-945833, EBI-3923548;
Q7Z3S9; P43353: ALDH3B1; NbExp=3; IntAct=EBI-945833, EBI-2558314;
Q7Z3S9; P09923: ALPI; NbExp=4; IntAct=EBI-945833, EBI-1052631;
Q7Z3S9; P29972: AQP1; NbExp=3; IntAct=EBI-945833, EBI-745213;
Q7Z3S9; P55064: AQP5; NbExp=3; IntAct=EBI-945833, EBI-746103;
Q7Z3S9; Q99856: ARID3A; NbExp=3; IntAct=EBI-945833, EBI-5458244;
Q7Z3S9; Q9BZE9: ASPSCR1; NbExp=3; IntAct=EBI-945833, EBI-1993677;
Q7Z3S9; Q7Z3C6: ATG9A; NbExp=3; IntAct=EBI-945833, EBI-727146;
Q7Z3S9; A8KA13: BCL6B; NbExp=3; IntAct=EBI-945833, EBI-10174813;
Q7Z3S9; P62952: BLCAP; NbExp=4; IntAct=EBI-945833, EBI-3895726;
Q7Z3S9; A8K571: BMP7; NbExp=3; IntAct=EBI-945833, EBI-10174327;
Q7Z3S9; Q6NUJ2: C11orf87; NbExp=3; IntAct=EBI-945833, EBI-6660291;
Q7Z3S9; A6NFR6-4: C5orf60; NbExp=3; IntAct=EBI-945833, EBI-10173955;
Q7Z3S9; Q8N4G4: CA6; NbExp=4; IntAct=EBI-945833, EBI-10265475;
Q7Z3S9; Q9Y2V2: CARHSP1; NbExp=3; IntAct=EBI-945833, EBI-718719;
Q7Z3S9; Q8NEC5: CATSPER1; NbExp=4; IntAct=EBI-945833, EBI-744545;
Q7Z3S9; Q8TAB7: CCDC26; NbExp=3; IntAct=EBI-945833, EBI-10271580;
Q7Z3S9; Q8TC90: CCER1; NbExp=4; IntAct=EBI-945833, EBI-746041;
Q7Z3S9; Q04900: CD164; NbExp=3; IntAct=EBI-945833, EBI-2115896;
Q7Z3S9; Q8N619: CDK5R1; NbExp=3; IntAct=EBI-945833, EBI-10266998;
Q7Z3S9; Q8TAM4: CDK5R1; NbExp=3; IntAct=EBI-945833, EBI-10271838;
Q7Z3S9; Q8TCT0: CERK; NbExp=3; IntAct=EBI-945833, EBI-10274247;
Q7Z3S9; Q9NX63: CHCHD3; NbExp=3; IntAct=EBI-945833, EBI-743375;
Q7Z3S9; Q8NE62: CHDH; NbExp=3; IntAct=EBI-945833, EBI-7127986;
Q7Z3S9; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-945833, EBI-741528;
Q7Z3S9; Q9H2X0: CHRD; NbExp=3; IntAct=EBI-945833, EBI-947551;
Q7Z3S9; P07510: CHRNG; NbExp=5; IntAct=EBI-945833, EBI-9008836;
Q7Z3S9; P07510-2: CHRNG; NbExp=3; IntAct=EBI-945833, EBI-11979451;
Q7Z3S9; P57739: CLDN2; NbExp=3; IntAct=EBI-945833, EBI-751440;
Q7Z3S9; A5D8T8: CLEC18A; NbExp=3; IntAct=EBI-945833, EBI-10173491;
Q7Z3S9; P27658: COL8A1; NbExp=3; IntAct=EBI-945833, EBI-747133;
Q7Z3S9; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-945833, EBI-739773;
Q7Z3S9; Q9UGL9: CRCT1; NbExp=5; IntAct=EBI-945833, EBI-713677;
Q7Z3S9; Q02930-3: CREB5; NbExp=3; IntAct=EBI-945833, EBI-10192698;
Q7Z3S9; P09603: CSF1; NbExp=3; IntAct=EBI-945833, EBI-2872294;
Q7Z3S9; P09228: CST2; NbExp=3; IntAct=EBI-945833, EBI-8832659;
Q7Z3S9; Q9H4G1: CST9L; NbExp=3; IntAct=EBI-945833, EBI-3923092;
Q7Z3S9; P08311: CTSG; NbExp=3; IntAct=EBI-945833, EBI-5462635;
Q7Z3S9; Q9UBR2: CTSZ; NbExp=4; IntAct=EBI-945833, EBI-8636823;
Q7Z3S9; Q6I9S7: CXCL5; NbExp=3; IntAct=EBI-945833, EBI-10249885;
Q7Z3S9; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-945833, EBI-746300;
Q7Z3S9; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-945833, EBI-9679045;
Q7Z3S9; O96015: DNAL4; NbExp=3; IntAct=EBI-945833, EBI-742362;
Q7Z3S9; Q92608: DOCK2; NbExp=3; IntAct=EBI-945833, EBI-448771;
Q7Z3S9; P52797: EFNA3; NbExp=3; IntAct=EBI-945833, EBI-722730;
Q7Z3S9; O60573: EIF4E2; NbExp=3; IntAct=EBI-945833, EBI-398610;
Q7Z3S9; O15197-2: EPHB6; NbExp=3; IntAct=EBI-945833, EBI-10182490;
Q7Z3S9; O00519: FAAH; NbExp=3; IntAct=EBI-945833, EBI-1389829;
Q7Z3S9; Q9H5Z6: FAM124B; NbExp=3; IntAct=EBI-945833, EBI-741626;
Q7Z3S9; Q8NEG0: FAM71C; NbExp=3; IntAct=EBI-945833, EBI-752049;
Q7Z3S9; Q5TZK3: FAM74A6; NbExp=3; IntAct=EBI-945833, EBI-10247271;
Q7Z3S9; O95363: FARS2; NbExp=3; IntAct=EBI-945833, EBI-2513774;
Q7Z3S9; P48023: FASLG; NbExp=3; IntAct=EBI-945833, EBI-495538;
Q7Z3S9; Q96D16: FBXL18; NbExp=3; IntAct=EBI-945833, EBI-744419;
Q7Z3S9; Q969U6: FBXW5; NbExp=3; IntAct=EBI-945833, EBI-741068;
Q7Z3S9; Q99853: FOXB1; NbExp=3; IntAct=EBI-945833, EBI-3916225;
Q7Z3S9; O43559: FRS3; NbExp=3; IntAct=EBI-945833, EBI-725515;
Q7Z3S9; O14764: GABRD; NbExp=3; IntAct=EBI-945833, EBI-744352;
Q7Z3S9; P23769: GATA2; NbExp=4; IntAct=EBI-945833, EBI-2806671;
Q7Z3S9; P55040: GEM; NbExp=3; IntAct=EBI-945833, EBI-744104;
Q7Z3S9; Q9NXC2: GFOD1; NbExp=3; IntAct=EBI-945833, EBI-8799578;
Q7Z3S9; P09681: GIP; NbExp=3; IntAct=EBI-945833, EBI-8588553;
Q7Z3S9; P43220: GLP1R; NbExp=3; IntAct=EBI-945833, EBI-7466542;
Q7Z3S9; O76003: GLRX3; NbExp=3; IntAct=EBI-945833, EBI-374781;
Q7Z3S9; Q6IB77: GLYAT; NbExp=3; IntAct=EBI-945833, EBI-715463;
Q7Z3S9; P04899: GNAI2; NbExp=3; IntAct=EBI-945833, EBI-353997;
Q7Z3S9; Q9Y223: GNE; NbExp=4; IntAct=EBI-945833, EBI-4291090;
Q7Z3S9; P09211: GSTP1; NbExp=3; IntAct=EBI-945833, EBI-353467;
Q7Z3S9; Q9Y5Q8: GTF3C5; NbExp=3; IntAct=EBI-945833, EBI-1045409;
Q7Z3S9; P02008: HBZ; NbExp=4; IntAct=EBI-945833, EBI-719843;
Q7Z3S9; P08631: HCK; NbExp=3; IntAct=EBI-945833, EBI-346340;
Q7Z3S9; V9HW60: HEL-S-182mP; NbExp=3; IntAct=EBI-945833, EBI-10180762;
Q7Z3S9; V9HWJ5: HEL-S-90n; NbExp=3; IntAct=EBI-945833, EBI-10330335;
Q7Z3S9; A4FTV9: HIST1H2AK; NbExp=3; IntAct=EBI-945833, EBI-10173457;
Q7Z3S9; P49639: HOXA1; NbExp=3; IntAct=EBI-945833, EBI-740785;
Q7Z3S9; P37235: HPCAL1; NbExp=3; IntAct=EBI-945833, EBI-749311;
Q7Z3S9; O75506: HSBP1; NbExp=4; IntAct=EBI-945833, EBI-748664;
Q7Z3S9; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-945833, EBI-3918847;
Q7Z3S9; Q96MM6: HSPA12B; NbExp=3; IntAct=EBI-945833, EBI-10291310;
Q7Z3S9; Q9NZL4: HSPBP1; NbExp=4; IntAct=EBI-945833, EBI-356763;
Q7Z3S9; P10809: HSPD1; NbExp=3; IntAct=EBI-945833, EBI-352528;
Q7Z3S9; Q14773-3: ICAM4; NbExp=3; IntAct=EBI-945833, EBI-10233928;
Q7Z3S9; P13284: IFI30; NbExp=3; IntAct=EBI-945833, EBI-2868897;
Q7Z3S9; P31785: IL2RG; NbExp=4; IntAct=EBI-945833, EBI-80475;
Q7Z3S9; Q92835: INPP5D; NbExp=3; IntAct=EBI-945833, EBI-1380477;
Q7Z3S9; P05107: ITGB2; NbExp=7; IntAct=EBI-945833, EBI-300173;
Q7Z3S9; L7RT22: ITGB5; NbExp=3; IntAct=EBI-945833, EBI-10178729;
Q7Z3S9; Q15040: JOSD1; NbExp=3; IntAct=EBI-945833, EBI-2510602;
Q7Z3S9; Q96SI1: KCTD15; NbExp=3; IntAct=EBI-945833, EBI-715783;
Q7Z3S9; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-945833, EBI-6426443;
Q7Z3S9; O60259: KLK8; NbExp=3; IntAct=EBI-945833, EBI-3915857;
Q7Z3S9; P35900: KRT20; NbExp=3; IntAct=EBI-945833, EBI-742094;
Q7Z3S9; P78385: KRT83; NbExp=3; IntAct=EBI-945833, EBI-10221390;
Q7Z3S9; P60412: KRTAP10-11; NbExp=3; IntAct=EBI-945833, EBI-10217483;
Q7Z3S9; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-945833, EBI-10172150;
Q7Z3S9; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-945833, EBI-10172290;
Q7Z3S9; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-945833, EBI-10171774;
Q7Z3S9; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-945833, EBI-10172052;
Q7Z3S9; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-945833, EBI-10176379;
Q7Z3S9; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-945833, EBI-10176396;
Q7Z3S9; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-945833, EBI-10241252;
Q7Z3S9; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-945833, EBI-3957672;
Q7Z3S9; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-945833, EBI-9996449;
Q7Z3S9; Q9BYQ6: KRTAP4-11; NbExp=3; IntAct=EBI-945833, EBI-10302392;
Q7Z3S9; Q9BQ66: KRTAP4-12; NbExp=3; IntAct=EBI-945833, EBI-739863;
Q7Z3S9; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-945833, EBI-10172511;
Q7Z3S9; Q9BYR0: KRTAP4-7; NbExp=3; IntAct=EBI-945833, EBI-10302547;
Q7Z3S9; Q6L8G9: KRTAP5-6; NbExp=4; IntAct=EBI-945833, EBI-10250562;
Q7Z3S9; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-945833, EBI-3958099;
Q7Z3S9; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-945833, EBI-1044640;
Q7Z3S9; Q9BYQ2: KRTAP9-4; NbExp=3; IntAct=EBI-945833, EBI-10185730;
Q7Z3S9; Q5T7P3: LCE1B; NbExp=6; IntAct=EBI-945833, EBI-10245913;
Q7Z3S9; Q5TA82: LCE2D; NbExp=3; IntAct=EBI-945833, EBI-10246750;
Q7Z3S9; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-945833, EBI-10245291;
Q7Z3S9; Q5T5B0: LCE3E; NbExp=4; IntAct=EBI-945833, EBI-10245456;
Q7Z3S9; Q7Z4I7-5: LIMS2; NbExp=3; IntAct=EBI-945833, EBI-10257651;
Q7Z3S9; O14910: LIN7A; NbExp=3; IntAct=EBI-945833, EBI-2513988;
Q7Z3S9; Q96FQ7: LINC00526; NbExp=3; IntAct=EBI-945833, EBI-10286106;
Q7Z3S9; P25791: LMO2; NbExp=3; IntAct=EBI-945833, EBI-739696;
Q7Z3S9; Q8TBB1: LNX1; NbExp=4; IntAct=EBI-945833, EBI-739832;
Q7Z3S9; Q17RD9: LOC200261; NbExp=3; IntAct=EBI-945833, EBI-10239007;
Q7Z3S9; Q496Y0: LONRF3; NbExp=3; IntAct=EBI-945833, EBI-2690768;
Q7Z3S9; O75427: LRCH4; NbExp=3; IntAct=EBI-945833, EBI-718707;
Q7Z3S9; Q6PJG9: LRFN4; NbExp=3; IntAct=EBI-945833, EBI-7910762;
Q7Z3S9; O60336: MAPKBP1; NbExp=3; IntAct=EBI-945833, EBI-947402;
Q7Z3S9; Q6IPE9: MARK4; NbExp=3; IntAct=EBI-945833, EBI-10250211;
Q7Z3S9; O15232: MATN3; NbExp=3; IntAct=EBI-945833, EBI-6262458;
Q7Z3S9; P08582-2: MELTF; NbExp=3; IntAct=EBI-945833, EBI-10195914;
Q7Z3S9; Q4ZG74: MGC13033; NbExp=3; IntAct=EBI-945833, EBI-10241963;
Q7Z3S9; Q9NV56: MRGBP; NbExp=3; IntAct=EBI-945833, EBI-399076;
Q7Z3S9; Q9NQ50: MRPL40; NbExp=3; IntAct=EBI-945833, EBI-1053902;
Q7Z3S9; Q13330: MTA1; NbExp=3; IntAct=EBI-945833, EBI-714236;
Q7Z3S9; Q9BW11: MXD3; NbExp=4; IntAct=EBI-945833, EBI-741574;
Q7Z3S9; P50539-3: MXI1; NbExp=3; IntAct=EBI-945833, EBI-10211940;
Q7Z3S9; Q15742: NAB2; NbExp=3; IntAct=EBI-945833, EBI-8641936;
Q7Z3S9; Q8IW45: NAXD; NbExp=3; IntAct=EBI-945833, EBI-8650724;
Q7Z3S9; Q92692: NECTIN2; NbExp=3; IntAct=EBI-945833, EBI-718419;
Q7Z3S9; Q9NQS3: NECTIN3; NbExp=4; IntAct=EBI-945833, EBI-2826725;
Q7Z3S9; Q9Y3R4: NEU2; NbExp=6; IntAct=EBI-945833, EBI-10327976;
Q7Z3S9; P48645: NMU; NbExp=3; IntAct=EBI-945833, EBI-10210351;
Q7Z3S9; P48146: NPBWR2; NbExp=3; IntAct=EBI-945833, EBI-10210114;
Q7Z3S9; Q9NQX5: NPDC1; NbExp=3; IntAct=EBI-945833, EBI-748927;
Q7Z3S9; P16860: NPPB; NbExp=4; IntAct=EBI-945833, EBI-747044;
Q7Z3S9; Q6NSM0: NR1D2; NbExp=4; IntAct=EBI-945833, EBI-10250949;
Q7Z3S9; Q9Y5Y2: NUBP2; NbExp=3; IntAct=EBI-945833, EBI-1048886;
Q7Z3S9; Q99571: P2RX4; NbExp=3; IntAct=EBI-945833, EBI-2828248;
Q7Z3S9; Q9H1Q7: PCED1A; NbExp=3; IntAct=EBI-945833, EBI-748452;
Q7Z3S9; Q96HM7: PCED1B; NbExp=3; IntAct=EBI-945833, EBI-1222622;
Q7Z3S9; Q92824: PCSK5; NbExp=3; IntAct=EBI-945833, EBI-751290;
Q7Z3S9; O76083: PDE9A; NbExp=4; IntAct=EBI-945833, EBI-742764;
Q7Z3S9; Q7Z2X4: PID1; NbExp=3; IntAct=EBI-945833, EBI-10256685;
Q7Z3S9; Q96S52: PIGS; NbExp=3; IntAct=EBI-945833, EBI-2908273;
Q7Z3S9; O43688: PLPP2; NbExp=3; IntAct=EBI-945833, EBI-722017;
Q7Z3S9; Q9NRQ2: PLSCR4; NbExp=5; IntAct=EBI-945833, EBI-769257;
Q7Z3S9; Q8NAT1: POMGNT2; NbExp=3; IntAct=EBI-945833, EBI-10269044;
Q7Z3S9; P54646: PRKAA2; NbExp=3; IntAct=EBI-945833, EBI-1383852;
Q7Z3S9; Q8WWY3: PRPF31; NbExp=6; IntAct=EBI-945833, EBI-1567797;
Q7Z3S9; P11908: PRPS2; NbExp=3; IntAct=EBI-945833, EBI-4290895;
Q7Z3S9; P25786: PSMA1; NbExp=3; IntAct=EBI-945833, EBI-359352;
Q7Z3S9; Q969U7: PSMG2; NbExp=3; IntAct=EBI-945833, EBI-723276;
Q7Z3S9; P43115-12: PTGER3; NbExp=3; IntAct=EBI-945833, EBI-10234038;
Q7Z3S9; Q8WUK0: PTPMT1; NbExp=3; IntAct=EBI-945833, EBI-7199479;
Q7Z3S9; Q9H3S7: PTPN23; NbExp=4; IntAct=EBI-945833, EBI-724478;
Q7Z3S9; P15151: PVR; NbExp=4; IntAct=EBI-945833, EBI-3919694;
Q7Z3S9; Q9Y2K5-2: R3HDM2; NbExp=3; IntAct=EBI-945833, EBI-10326419;
Q7Z3S9; Q8TBN0: RAB3IL1; NbExp=4; IntAct=EBI-945833, EBI-743796;
Q7Z3S9; O60896: RAMP3; NbExp=3; IntAct=EBI-945833, EBI-720447;
Q7Z3S9; Q96PM5: RCHY1; NbExp=4; IntAct=EBI-945833, EBI-947779;
Q7Z3S9; Q6P9E2: RECK; NbExp=3; IntAct=EBI-945833, EBI-10253121;
Q7Z3S9; P07949: RET; NbExp=3; IntAct=EBI-945833, EBI-2480756;
Q7Z3S9; P07949-2: RET; NbExp=3; IntAct=EBI-945833, EBI-4423689;
Q7Z3S9; O15211: RGL2; NbExp=3; IntAct=EBI-945833, EBI-712355;
Q7Z3S9; P62857: RPS28; NbExp=3; IntAct=EBI-945833, EBI-353027;
Q7Z3S9; Q86UN2: RTN4RL1; NbExp=3; IntAct=EBI-945833, EBI-10258951;
Q7Z3S9; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-945833, EBI-748391;
Q7Z3S9; O00560: SDCBP; NbExp=3; IntAct=EBI-945833, EBI-727004;
Q7Z3S9; Q8WWX9: SELENOM; NbExp=3; IntAct=EBI-945833, EBI-10277687;
Q7Z3S9; Q9C0C4: SEMA4C; NbExp=3; IntAct=EBI-945833, EBI-10303490;
Q7Z3S9; Q9NUL5: SHFL; NbExp=3; IntAct=EBI-945833, EBI-10313866;
Q7Z3S9; A1A5C7: SLC22A23; NbExp=4; IntAct=EBI-945833, EBI-10171756;
Q7Z3S9; Q9UHI7: SLC23A1; NbExp=3; IntAct=EBI-945833, EBI-1759386;
Q7Z3S9; Q9UBX3: SLC25A10; NbExp=4; IntAct=EBI-945833, EBI-750394;
Q7Z3S9; P12236: SLC25A6; NbExp=3; IntAct=EBI-945833, EBI-356254;
Q7Z3S9; Q9NP91: SLC6A20; NbExp=3; IntAct=EBI-945833, EBI-10311198;
Q7Z3S9; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-945833, EBI-455078;
Q7Z3S9; P49901: SMCP; NbExp=4; IntAct=EBI-945833, EBI-750494;
Q7Z3S9; Q9H4F8: SMOC1; NbExp=4; IntAct=EBI-945833, EBI-2801103;
Q7Z3S9; O95863: SNAI1; NbExp=4; IntAct=EBI-945833, EBI-1045459;
Q7Z3S9; Q6RVD6: SPATA8; NbExp=3; IntAct=EBI-945833, EBI-8635958;
Q7Z3S9; Q9UQ90: SPG7; NbExp=3; IntAct=EBI-945833, EBI-717201;
Q7Z3S9; P20155: SPINK2; NbExp=3; IntAct=EBI-945833, EBI-10200479;
Q7Z3S9; O43609: SPRY1; NbExp=5; IntAct=EBI-945833, EBI-3866665;
Q7Z3S9; O75716: STK16; NbExp=3; IntAct=EBI-945833, EBI-749295;
Q7Z3S9; Q8IV04: TBC1D10C; NbExp=3; IntAct=EBI-945833, EBI-10261452;
Q7Z3S9; Q7L2K0: TEDC2; NbExp=3; IntAct=EBI-945833, EBI-8465456;
Q7Z3S9; Q9BT49: THAP7; NbExp=4; IntAct=EBI-945833, EBI-741350;
Q7Z3S9; Q5TEJ8: THEMIS2; NbExp=4; IntAct=EBI-945833, EBI-2806032;
Q7Z3S9; Q9GZM7-3: TINAGL1; NbExp=3; IntAct=EBI-945833, EBI-10303636;
Q7Z3S9; Q08117: TLE5; NbExp=3; IntAct=EBI-945833, EBI-717810;
Q7Z3S9; Q86TG1: TMEM150A; NbExp=3; IntAct=EBI-945833, EBI-2799342;
Q7Z3S9; Q9H6L2: TMEM231; NbExp=3; IntAct=EBI-945833, EBI-10307654;
Q7Z3S9; Q96HV5: TMEM41A; NbExp=3; IntAct=EBI-945833, EBI-10288884;
Q7Z3S9; Q96KP6: TNIP3; NbExp=3; IntAct=EBI-945833, EBI-2509913;
Q7Z3S9; Q07912: TNK2; NbExp=3; IntAct=EBI-945833, EBI-603457;
Q7Z3S9; Q4VB56: TNP2; NbExp=3; IntAct=EBI-945833, EBI-10241829;
Q7Z3S9; P14373: TRIM27; NbExp=3; IntAct=EBI-945833, EBI-719493;
Q7Z3S9; Q8IWZ5: TRIM42; NbExp=6; IntAct=EBI-945833, EBI-5235829;
Q7Z3S9; Q9Y260: TRPV6; NbExp=3; IntAct=EBI-945833, EBI-750052;
Q7Z3S9; O14817: TSPAN4; NbExp=4; IntAct=EBI-945833, EBI-8652667;
Q7Z3S9; Q86UY0: TXNDC5; NbExp=3; IntAct=EBI-945833, EBI-2825190;
Q7Z3S9; Q9BRU9: UTP23; NbExp=3; IntAct=EBI-945833, EBI-5457544;
Q7Z3S9; Q9UBK9: UXT; NbExp=4; IntAct=EBI-945833, EBI-357355;
Q7Z3S9; Q64LD2: WDR25; NbExp=3; IntAct=EBI-945833, EBI-744560;
Q7Z3S9; Q06250: WT1-AS; NbExp=3; IntAct=EBI-945833, EBI-10223946;
Q7Z3S9; Q9UBD3: XCL2; NbExp=3; IntAct=EBI-945833, EBI-10319095;
Q7Z3S9; Q9GZM5: YIPF3; NbExp=4; IntAct=EBI-945833, EBI-743787;
Q7Z3S9; Q9BQ24: ZFYVE21; NbExp=3; IntAct=EBI-945833, EBI-2849569;
Q7Z3S9; P17041: ZNF32; NbExp=3; IntAct=EBI-945833, EBI-1965483;
Q7Z3S9; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-945833, EBI-740727;
Q7Z3S9; Q8NDP4: ZNF439; NbExp=3; IntAct=EBI-945833, EBI-747580;
Q7Z3S9; Q8IYI8: ZNF440; NbExp=3; IntAct=EBI-945833, EBI-726439;
Q7Z3S9; Q9NWS9-2: ZNF446; NbExp=3; IntAct=EBI-945833, EBI-740232;
Q7Z3S9; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-945833, EBI-745520;
Q7Z3S9; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-945833, EBI-6427977;
Q7Z3S9; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-945833, EBI-16429014;
Q7Z3S9; Q5BKY6; NbExp=3; IntAct=EBI-945833, EBI-10243533;
Q7Z3S9; Q9NWL9; NbExp=3; IntAct=EBI-945833, EBI-10315054;
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14673143,
ECO:0000269|PubMed:29856954}. Cytoplasm {ECO:0000269|PubMed:14673143}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q7Z3S9-1; Sequence=Displayed;
Name=2;
IsoId=Q7Z3S9-2; Sequence=VSP_033896;
Name=3;
IsoId=Q7Z3S9-3; Sequence=VSP_033895;
-!- TISSUE SPECIFICITY: Widely expressed with higher levels in leukocytes
and lymph nodes (PubMed:14673143). Expressed in radial glia neural stem
cells during cortical development (PubMed:29856954).
{ECO:0000269|PubMed:14673143, ECO:0000269|PubMed:29856954}.
-!- DEVELOPMENTAL STAGE: Expressed at low levels at 7-9 gestational weeks
and then increases at later stages, including in the non-cortical plate
region at gestational week 21, containing the outer-subventricular zone
(PubMed:29856955). Expressed at lower level than NOTCH2NLB
(PubMed:29856955). {ECO:0000269|PubMed:29856955}.
-!- PTM: Cleaved by ELANE. {ECO:0000269|PubMed:14673143}.
-!- DISEASE: Note=Defects in NOTCH2NLA may be a cause of chromosome 1q21.1
deletion/duplication syndrome (PubMed:29856954). Deletions of NOTCH2NL
(NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients
affected by microcephaly, whereas macrocephaly is observed in patients
with NOTCH2NL duplications (PubMed:29856954).
{ECO:0000269|PubMed:29856954}.
-!- SIMILARITY: Belongs to the NOTCH family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH84572.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAC11381.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AK075065; BAC11381.1; ALT_INIT; mRNA.
EMBL; BX537434; CAD97676.1; -; mRNA.
EMBL; AL592307; CAH73993.1; -; Genomic_DNA.
EMBL; AL592307; CAH73994.1; -; Genomic_DNA.
EMBL; BC010154; AAH10154.3; -; mRNA.
EMBL; BC019835; AAH19835.1; -; mRNA.
EMBL; BC065219; AAH65219.2; -; mRNA.
EMBL; BC084572; AAH84572.1; ALT_INIT; mRNA.
EMBL; BC090943; AAH90943.1; -; mRNA.
CCDS; CCDS72880.1; -. [Q7Z3S9-1]
RefSeq; NP_982283.2; NM_203458.4. [Q7Z3S9-1]
RefSeq; XP_006711766.1; XM_006711703.3.
RefSeq; XP_006726418.1; XM_006726355.3.
RefSeq; XP_016855384.1; XM_016999895.1.
RefSeq; XP_016855385.1; XM_016999896.1.
RefSeq; XP_016855386.1; XM_016999897.1.
RefSeq; XP_016855387.1; XM_016999898.1.
RefSeq; XP_016858537.1; XM_017003048.1.
RefSeq; XP_016858538.1; XM_017003049.1.
RefSeq; XP_016858539.1; XM_017003050.1.
RefSeq; XP_016858540.1; XM_017003051.1.
SMR; Q7Z3S9; -.
BioGRID; 132802; 247.
DIP; DIP-47315N; -.
IntAct; Q7Z3S9; 248.
STRING; 9606.ENSP00000464060; -.
BioMuta; NOTCH2NL; -.
DMDM; 74750065; -.
EPD; Q7Z3S9; -.
jPOST; Q7Z3S9; -.
MassIVE; Q7Z3S9; -.
MaxQB; Q7Z3S9; -.
PaxDb; Q7Z3S9; -.
PeptideAtlas; Q7Z3S9; -.
PRIDE; Q7Z3S9; -.
ProteomicsDB; 69079; -. [Q7Z3S9-1]
ProteomicsDB; 69080; -. [Q7Z3S9-2]
ProteomicsDB; 69081; -. [Q7Z3S9-3]
TopDownProteomics; Q7Z3S9-3; -. [Q7Z3S9-3]
Antibodypedia; 72493; 61 antibodies.
DNASU; 388677; -.
Ensembl; ENST00000362074; ENSP00000354929; ENSG00000264343. [Q7Z3S9-1]
Ensembl; ENST00000579793; ENSP00000476330; ENSG00000264343. [Q7Z3S9-2]
GeneID; 388677; -.
KEGG; hsa:388677; -.
UCSC; uc031utx.2; human. [Q7Z3S9-1]
CTD; 388677; -.
DisGeNET; 100996717; -.
DisGeNET; 100996763; -.
DisGeNET; 388677; -.
EuPathDB; HostDB:ENSG00000264343.5; -.
GeneCards; NOTCH2NLA; -.
HGNC; HGNC:31862; NOTCH2NLA.
HPA; ENSG00000264343; Tissue enhanced (blood).
MIM; 618023; gene.
neXtProt; NX_Q7Z3S9; -.
OpenTargets; ENSG00000264343; -.
PharmGKB; PA134983899; -.
eggNOG; KOG1217; Eukaryota.
eggNOG; ENOG410XP6K; LUCA.
GeneTree; ENSGT00940000167308; -.
HOGENOM; CLU_004826_3_0_1; -.
InParanoid; Q7Z3S9; -.
OMA; RAGPCHQ; -.
OrthoDB; 1033311at2759; -.
PhylomeDB; Q7Z3S9; -.
BioGRID-ORCS; 388677; 502 hits in 778 CRISPR screens.
ChiTaRS; NOTCH2NLB; human.
Pharos; Q7Z3S9; Tdark.
PRO; PR:Q7Z3S9; -.
Proteomes; UP000005640; Chromosome 1.
RNAct; Q7Z3S9; protein.
Bgee; ENSG00000264343; Expressed in testis and 90 other tissues.
ExpressionAtlas; Q7Z3S9; baseline and differential.
Genevisible; Q7Z3S9; HS.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0005112; F:Notch binding; IPI:UniProtKB.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0021987; P:cerebral cortex development; IDA:UniProtKB.
GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
GO; GO:0045747; P:positive regulation of Notch signaling pathway; IDA:UniProtKB.
InterPro; IPR001881; EGF-like_Ca-bd_dom.
InterPro; IPR013032; EGF-like_CS.
InterPro; IPR000742; EGF-like_dom.
InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
InterPro; IPR018097; EGF_Ca-bd_CS.
Pfam; PF00008; EGF; 3.
Pfam; PF07645; EGF_CA; 1.
SMART; SM00181; EGF; 5.
SMART; SM00179; EGF_CA; 4.
PROSITE; PS00010; ASX_HYDROXYL; 1.
PROSITE; PS00022; EGF_1; 5.
PROSITE; PS01186; EGF_2; 5.
PROSITE; PS50026; EGF_3; 6.
PROSITE; PS01187; EGF_CA; 1.
1: Evidence at protein level;
Alternative splicing; Calcium; Cytoplasm; Developmental protein;
Differentiation; Disulfide bond; EGF-like domain; Glycoprotein;
Notch signaling pathway; Polymorphism; Reference proteome; Repeat;
Secreted.
CHAIN 1..236
/note="Notch homolog 2 N-terminal-like protein A"
/id="PRO_0000337103"
DOMAIN 1..24
/note="EGF-like 1"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DOMAIN 25..63
/note="EGF-like 2"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DOMAIN 66..104
/note="EGF-like 3"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DOMAIN 105..141
/note="EGF-like 4"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DOMAIN 143..180
/note="EGF-like 5; calcium-binding"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DOMAIN 182..219
/note="EGF-like 6"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
CARBOHYD 7
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
DISULFID 14..23
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 29..40
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 34..51
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 53..62
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 70..82
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 76..92
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 94..103
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 109..120
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 114..129
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 131..140
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 147..159
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 153..168
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 170..179
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 186..197
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
DISULFID 191..207
/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
VAR_SEQ 1
/note="M -> MCRDGYEPCVNEGM (in isoform 3)"
/evidence="ECO:0000303|PubMed:15489334"
/id="VSP_033895"
VAR_SEQ 212..236
/note="ETVRRGTELWERDREVWNGKEHDEN -> ATWPIFPKLLSLQEKESYC (in
isoform 2)"
/evidence="ECO:0000303|PubMed:14702039"
/id="VSP_033896"
VARIANT 67
/note="S -> P (in dbSNP:rs10910779)"
/id="VAR_043601"
VARIANT 158
/note="T -> I (in dbSNP:rs8002)"
/evidence="ECO:0000269|PubMed:15489334"
/id="VAR_043602"
VARIANT 196
/note="T -> S (in dbSNP:rs4649852)"
/id="VAR_043603"
VARIANT 226
/note="E -> Q (in dbSNP:rs1053710)"
/id="VAR_043604"
CONFLICT 19
/note="L -> S (in Ref. 1; BAC11381)"
/evidence="ECO:0000305"
SEQUENCE 236 AA; 25835 MW; 2DF01880A22814C9 CRC64;
MCVTYHNGTG YCKCPEGFLG EYCQHRDPCE KNRCQNGGTC VAQAMLGKAT CRCASGFTGE
DCQYSTSHPC FVSRPCLNGG TCHMLSRDTY ECTCQVGFTG KECQWTDACL SHPCANGSTC
TTVANQFSCK CLTGFTGQKC ETDVNECDIP GHCQHGGTCL NLPGSYQCQC LQGFTGQYCD
SLYVPCAPSP CVNGGTCRQT GDFTFECNCL PETVRRGTEL WERDREVWNG KEHDEN


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Pathways :
WP199: Delta-Notch Signaling Pathway
WP931: G Protein Signaling Pathways
WP1029: Notch Signaling Pathway
WP1678: Nucleotide excision repair
WP2371: Parkinsons Disease Pathway
WP1613: 1,4-Dichlorobenzene degradation
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WP1625: Base excision repair
WP210: Cytoplasmic Ribosomal Proteins
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WP1690: Propanoate metabolism
WP1214: Notch Signaling Pathway
WP1694: Pyrimidine metabolism
WP35: G Protein Signaling Pathways
WP1654: gamma-Hexachlorocyclohexane degradation
WP2203: TSLP Signaling Pathway
WP1661: Glyoxylate and dicarboxylate metabolism
WP2223: LIN-12/Notch Lateral Signaling
WP1371: G Protein Signaling Pathways
WP1714: Tyrosine metabolism
WP61: Notch Signaling Pathway
WP1493: Carbon assimilation C4 pathway
WP1892: Protein folding
WP798: Notch Signaling Pathway
WP1672: Mismatch repair

Related Genes :
[NOTCH2NLA N2N NOTCH2NL] Notch homolog 2 N-terminal-like protein A (Notch homolog 2 N-terminal-like protein)
[NOTCH2NLC] Notch homolog 2 N-terminal-like protein C
[NOTCH2NLB] Notch homolog 2 N-terminal-like protein B
[NOTCH2] Neurogenic locus notch homolog protein 2 (Notch 2) (hN2) [Cleaved into: Notch 2 extracellular truncation (N2ECD); Notch 2 intracellular domain (N2ICD)]
[myrf-2 F21A10.2] Myelin regulatory factor homolog 2 (EC 3.4.-.-) [Cleaved into: Myelin regulatory factor homolog 2, N-terminal; Myelin regulatory factor homolog 2, C-terminal]
[Notch2] Neurogenic locus notch homolog protein 2 (Notch 2) (Motch B) [Cleaved into: Notch 2 extracellular truncation; Notch 2 intracellular domain]
[Notch1 Motch] Neurogenic locus notch homolog protein 1 (Notch 1) (Motch A) (mT14) (p300) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[Notch2] Neurogenic locus notch homolog protein 2 (Notch 2) [Cleaved into: Notch 2 extracellular truncation; Notch 2 intracellular domain]
[notch1a notch] Neurogenic locus notch homolog protein 1 (Notch 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[NOTCH1 TAN1] Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation-associated notch protein TAN-1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[let-765 let-745 nsh-1 F20H11.2] Protein strawberry notch homolog (Lethal protein 765) (Notch signaling pathway homolog 1)
[NOTCH3] Neurogenic locus notch homolog protein 3 (Notch 3) [Cleaved into: Notch 3 extracellular truncation; Notch 3 intracellular domain]
[Notch1] Neurogenic locus notch homolog protein 1 (Notch 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[NOTCH4 INT3] Neurogenic locus notch homolog protein 4 (Notch 4) (hNotch4) [Cleaved into: Notch 4 extracellular truncation; Notch 4 intracellular domain]
[App] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) (Amyloidogenic glycoprotein) (AG) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (APP-C99) (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (APP-C59) (Amyloid intracellular domain 59) (AID(59)) (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (APP-C57) (Amyloid intracellular domain 57) (AID(57)) (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AID(50)) (Gamma-CTF(50)); C31]
[myrf-1 pqn-47 F59B10.1] Myelin regulatory factor homolog 1 (EC 3.4.-.-) (Polyglutamine-repeat protein 47) [Cleaved into: Myelin regulatory factor homolog 1, N-terminal; Myelin regulatory factor homolog 1, C-terminal]
[NOTCH1] Neurogenic locus notch homolog protein 1 (Notch 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[Sbno2 Sno Stno] Protein strawberry notch homolog 2
[notch1 xotch] Neurogenic locus notch homolog protein 1 (Notch 1) (xOTCH) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[nth-1 R10E4.5] Endonuclease III homolog (CeNTH) (EC 3.2.2.-) (EC 4.2.99.18) (Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase) (DNA glycosylase/AP lyase)
[notch1] Neurogenic locus notch homolog protein 1 (Notch 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
[App] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) (Amyloidogenic glycoprotein) (AG) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)); C31]
[APP] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF) (CTF-beta); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF) (CTF-alpha); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AICD-50) (AID(50)) (Gamma-CTF(50)); C31]
[APP QccE-15949] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)); C31]
[APP] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)); C31]
[APP] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)); C31]
[APP] Amyloid-beta A4 protein (ABPP) (APP) (Alzheimer disease amyloid A4 protein homolog) (Amyloid precursor protein) (Amyloid-beta precursor protein) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)); C31]
[KMT2A ALL1 CXXC7 HRX HTRX MLL MLL1 TRX1] Histone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.354) (ALL-1) (CXXC-type zinc finger protein 7) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage leukemia protein 1) (Trithorax-like protein) (Zinc finger protein HRX) [Cleaved into: MLL cleavage product N320 (N-terminal cleavage product of 320 kDa) (p320); MLL cleavage product C180 (C-terminal cleavage product of 180 kDa) (p180)]
[NAA10 ARD1 ARD1A TE2] N-alpha-acetyltransferase 10 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog A) (hARD1) (NatA catalytic subunit Naa10)
[Kmt2e Mll5] Inactive histone-lysine N-methyltransferase 2E (Inactive lysine N-methyltransferase 2E) (Myeloid/lymphoid or mixed-lineage leukemia protein 5 homolog)

Bibliography :