Sequence in raw or FASTA format:
Homo sapiens notch 3 (NOTCH3), mRNA.
| RefSeq Version | NM_000435.2, 134244284 |
| Length | 8089 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens notch 3 (NOTCH3), mRNA. |
| Product | neurogenic locus notch homolog protein 3 precursor |
| Comment | Summary: This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. |
| RefSeq | NP_000426.2 |
| CDS | 77..7042 | Exon (1) | 1..194 | Exon (2) | 1..194 | Exon (3) | 195..273 | Exon (4) | 274..416 | Exon (5) | 417..755 | Exon (6) | 756..878 | Exon (7) | 879..1112 | Exon (8) | 1113..1268 | Exon (9) | 1269..1454 | Exon (10) | 1455..1568 | Exon (11) | 1569..1682 | Exon (12) | 1683..1916 | Exon (13) | 1917..2027 | Exon (14) | 2028..2220 | Exon (15) | 2221..2372 | Exon (16) | 2373..2486 | Exon (17) | 2487..2642 | Exon (18) | 2643..2868 | Exon (19) | 2869..3070 | Exon (20) | 3071..3218 | Exon (21) | 3219..3403 | Exon (22) | 3404..3536 | Exon (23) | 3537..3794 | Exon (24) | 3795..3913 | Exon (25) | 3914..4479 | Exon (26) | 4480..4812 | Exon (27) | 4813..4967 | Exon (28) | 4968..5190 | Exon (29) | 5191..5275 | Exon (30) | 5276..5438 | Exon (31) | 5439..5743 | Exon (32) | 5744..5891 | Exon (33) | 5892..5989 | Exon (34) | 5990..8071 |
| Translation | MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPS
REAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLP
DPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGS
FRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDC
PGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSC
VCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPC
HEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG
RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVN
GGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGT
LCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDL
VDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINE
CASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVC
EPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPC
EHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG
YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT
CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQ
HEADPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGA
YCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSH
CEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDL
VARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGL
RCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLS
GPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPE
VSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNS
RCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDC
ASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHR
PSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERL
DFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF
SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMG
AEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCG
GALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLD
AGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEG
MVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAA
REGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLG
PLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS
PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSL
GLLNPVAVPLDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEE
YPAAGAHSSPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAM
ATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA
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| Position | Chain | Variation | Link |
| 289 | + | g, t | dbSNP:28937321 |
| complement(379) | - | g, a | dbSNP:3815188 |
| 473 | + | c, t | dbSNP:137852642 |
| complement(499) | - | g, a | dbSNP:116044239 |
| 581 | + | c, t | dbSNP:28933696 |
| 620 | + | c, t | dbSNP:28933697 |
| 682 | + | a, g | dbSNP:1043994 |
| complement(706) | - | g, c | dbSNP:61336539 |
| complement(736) | - | g, a | dbSNP:114457076 |
| complement(785) | - | t, c | dbSNP:2285981 |
| complement(830) | - | t, c | dbSNP:115836330 |
| complement(852) | - | t, g | dbSNP:75556687 |
| 1000 | + | c, t | dbSNP:1043995 |
| complement(1021) | - | g, a | dbSNP:116239440 |
| complement(1040) | - | t, c | dbSNP:115029695 |
| 1070 | + | c, t | dbSNP:137852641 |
| complement(1216) | - | t, g, c, a | dbSNP:61749020 |
| 1439 | + | c, t | dbSNP:28933698 |
| complement(1563) | - | g, a | dbSNP:11670799 |
| complement(1566) | - | g, a | dbSNP:114207045 |
| complement(1696) | - | c, a | dbSNP:75617410 |
| 1748 | + | a, g | dbSNP:75068032 |
| complement(1753) | - | g, a | dbSNP:113216024 |
| 1801 | + | c, t | dbSNP:79926127 |
| complement(1858) | - | g, a | dbSNP:35793356 |
| complement(2115) | - | t, c | dbSNP:10406745 |
| complement(2271) | - | g, c | dbSNP:114499400 |
| complement(2302) | - | t, c | dbSNP:79471197 |
| complement(2376) | - | t, c | dbSNP:75291244 |
| complement(2478..2479) | - | , t | dbSNP:35308509 |
| complement(2583) | - | g, a | dbSNP:34338511 |
| 2614 | + | c, t | dbSNP:1043996 |
| complement(2642) | - | t, c | dbSNP:113142241 |
| complement(2800) | - | g, a | dbSNP:61731967 |
| 2818 | + | a, g | dbSNP:1043997 |
| 3134 | + | c, g | dbSNP:35769976 |
| complement(3475) | - | t, g, c | dbSNP:112197217 |
| complement(3503) | - | g, a | dbSNP:60373464 |
| complement(3539) | - | , c | dbSNP:34314808 |
| complement(3623) | - | t, c | dbSNP:10408676 |
| complement(3705) | - | t, c | dbSNP:35031555 |
| complement(3718) | - | g, a | dbSNP:78985996 |
| complement(3734) | - | g, a | dbSNP:115872852 |
| complement(3780) | - | t, a | dbSNP:55882518 |
| complement(4003) | - | g, c | dbSNP:61750057 |
| 4120 | + | a, g | dbSNP:78926093 |
| 4393 | + | a, g | dbSNP:76555145 |
| 4639 | + | a, g | dbSNP:1044006 |
| complement(4703) | - | g, a | dbSNP:111838442 |
| complement(4720) | - | g, a | dbSNP:112269053 |
| complement(4755) | - | g, c | dbSNP:78501403 |
| complement(5011) | - | t, a | dbSNP:111706798 |
| complement(5026) | - | g, c | dbSNP:117630731 |
| complement(5035) | - | c, a | dbSNP:74954563 |
| complement(5155) | - | c, a | dbSNP:112441254 |
| complement(5395) | - | g, a | dbSNP:115262182 |
| complement(5446) | - | g, a | dbSNP:35887416 |
| complement(5476) | - | c, a | dbSNP:34480308 |
| complement(5536) | - | t, g | dbSNP:114661066 |
| complement(5602) | - | g, a | dbSNP:16980398 |
| complement(5717) | - | t, g | dbSNP:76166518 |
| complement(5840) | - | c, a | dbSNP:114813086 |
| complement(5930) | - | t, c | dbSNP:115582213 |
| complement(6178) | - | g, a | dbSNP:114887570 |
| complement(6297) | - | g, a | dbSNP:114447350 |
| complement(6314) | - | g, c | dbSNP:113178142 |
| 6514 | + | a, g | dbSNP:1044008 |
| 6744 | + | c, t | dbSNP:1044009 |
| complement(6772) | - | t, c | dbSNP:12976268 |
| complement(6829) | - | g, c, a | dbSNP:61731975 |
| complement(6889) | - | g, a | dbSNP:61731974 |
| complement(6940) | - | g, a | dbSNP:79560156 |
| complement(6941) | - | g, c | dbSNP:79447691 |
| complement(7065) | - | t, a | dbSNP:73504084 |
| complement(7138) | - | g, a | dbSNP:117165744 |
| complement(7380) | - | t, g | dbSNP:7247906 |
| complement(7386..7387) | - | , aa | dbSNP:59869411 |
| complement(7605) | - | t, a | dbSNP:77669983 |
| complement(7627) | - | c, a | dbSNP:79794352 |
| 7651 | + | g, t | dbSNP:1804976 |
| 7710 | + | g, t | dbSNP:1044055 |
| complement(7759) | - | g, a | dbSNP:3087938 |
| complement(7815..7816) | - | , c | dbSNP:34134952 |
| 7850 | + | a, g | dbSNP:1044116 |
| 7879 | + | a, g | dbSNP:12082 |
| 7932 | + | c, t | dbSNP:1044123 |
| complement(7978) | - | g, a | dbSNP:117460441 |
| complement(7979) | - | g, a | dbSNP:16980378 |
| complement(7987) | - | , t | dbSNP:34925770 |
| Gene Symbol | NOTCH3 |
| Gene Synonym | CADASIL; CASIL |
| Chromosome | 19 |
| Locus Map | 19p13.2-p13.1 |
| All Transcripts | NM_000435 |
| Title | Association of a Notch 3 gene polymorphism with migraine susceptibility . |
| Author | Menon,S., Cox,H.C., Kuwahata,M., Quinlan,S., MacMillan,J.C., Haupt,L.M., Lea,R.A. and Griffiths,L.R. |
| Journal | Cephalalgia 31 (3), 264-270 (2011) |
| Title | Aldehyde dehydrogenase activity selects for lung adenocarcinoma stem cells dependent on notch signaling . |
| Author | Sullivan,J.P., Spinola,M., Dodge,M., Raso,M.G., Behrens,C., Gao,B., Schuster,K., Shao,C., Larsen,J.E., Sullivan,L.A., Honorio,S., Xie,Y., Scaglioni,P.P., DiMaio,J.M., Gazdar,A.F., Shay,J.W., Wistuba,I.I. and Minna,J.D. |
| Journal | Cancer Res. 70 (23), 9937-9948 (2010) |
| Title | Genetically confirmed CADASIL in a pediatric patient . |
| Author | Cleves,C., Friedman,N.R., Rothner,A.D. and Hussain,M.S. |
| Journal | Pediatrics 126 (6), E1603-E1607 (2010) |
| Title | NOTCH1 and NOTCH3 coordinate esophageal squamous differentiation through a CSL-dependent transcriptional network . |
| Author | Ohashi,S., Natsuizaka,M., Yashiro-Ohtani,Y., Kalman,R.A., Nakagawa,M., Wu,L., Klein-Szanto,A.J., Herlyn,M., Diehl,J.A., Katz,J.P., Pear,W.S., Seykora,J.T. and Nakagawa,H. |
| Journal | Gastroenterology 139 (6), 2113-2123 (2010) |
| Title | Notch and MAML-1 complexation do not detectably alter the DNA binding specificity of the transcription factor CSL . |
| Author | Del Bianco,C., Vedenko,A., Choi,S.H., Berger,M.F., Shokri,L., Bulyk,M.L. and Blacklow,S.C. |
| Journal | PLoS ONE 5 (11), E15034 (2010) |
| Title | Neurogenic genes and vertebrate neurogenesis . |
| Author | Lewis,J. |
| Journal | Curr. Opin. Neurobiol. 6 (1), 3-10 (1996) |
| Title | The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation . |
| Author | Larsson,C., Lardelli,M., White,I. and Lendahl,U. |
| Journal | Genomics 24 (2), 253-258 (1994) |
| Title | Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3 . |
| Author | Sugaya,K., Fukagawa,T., Matsumoto,K., Mita,K., Takahashi,E., Ando,A., Inoko,H. and Ikemura,T. |
| Journal | Genomics 23 (2), 408-419 (1994) |
| Title | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 . |
| Author | Tournier-Lasserve,E., Joutel,A., Melki,J., Weissenbach,J., Lathrop,G.M., Chabriat,H., Mas,J.L., Cabanis,E.A., Baudrimont,M., Maciazek,J. et al. |
| Journal | Nat. Genet. 3 (3), 256-259 (1993) |
| Title | Comparison of male and female kidney transplant survival rates . |
| Author | Beleil,O.M., Mickey,M.R. and Terasaki,P.I. |
| Journal | Transplantation 13 (5), 493-500 (1972) |
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