NOTCH1

NOTCH1
Наявні структури
PDB	Пошук ортологів: PDBe RCSB
Список кодів PDB
	1PB5, 1TOZ, 1YYH, 2F8X, 2F8Y, 2HE0, 2VJ3, 3ETO, 3I08, 3L95, 3NBN, 3V79, 4CUD, 4CUE, 4CUF, 4D0E, 4D0F, 5FM9, 5FMA
Ідентифікатори
Символи	NOTCH1, Notch1, 9930111A19Rik, Mis6, N1, Tan1, lin-12, AOS5, AOVD1, hN1, notch 1, notch receptor 1
Зовнішні ІД	OMIM: 190198 MGI: 97363 HomoloGene: 32049 GeneCards: NOTCH1
Онтологія гена
Молекулярна функція	• calcium ion binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • Notch binding; • GO:0048551 enzyme inhibitor activity; • зв'язування з іоном металу; • enzyme binding; • chromatin binding; • GO:0001948 protein binding; • sequence-specific DNA binding; • protein heterodimerization activity; • chromatin DNA binding; • transmembrane signaling receptor activity; • signaling receptor activity; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific;
Клітинна компонента	• цитоплазма; • гіалоплазма; • мембрана; • Адгезивні контакти; • extracellular region; • клітинне ядро; • cell surface; • apical plasma membrane; • ендоплазматичний ретикулум; • integral component of membrane; • комплекс Ґольджі; • receptor complex; • клітинна мембрана; • Нуклеоплазма; • MAML1-RBP-Jkappa- ICN1 complex; • cell periphery; • endoplasmic reticulum membrane; • Golgi membrane; • Акросома; • GO:0016023 cytoplasmic vesicle;
Біологічний процес	• cardiac vascular smooth muscle cell development; • endoderm development; • pulmonary valve morphogenesis; • positive regulation of endothelial cell differentiation; • regulation of somitogenesis; • cell differentiation in spinal cord; • negative regulation of neuron differentiation; • regulation of extracellular matrix assembly; • distal tubule development; • negative regulation of glial cell proliferation; • epithelial to mesenchymal transition involved in endocardial cushion formation; • regulation of transcription by RNA polymerase II; • aortic valve morphogenesis; • oligodendrocyte differentiation; • endocardium morphogenesis; • negative regulation of osteoblast differentiation; • negative regulation of stem cell differentiation; • negative regulation of ossification; • heart looping; • negative regulation of photoreceptor cell differentiation; • arterial endothelial cell differentiation; • regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation; • atrioventricular valve morphogenesis; • Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation; • humoral immune response; • foregut morphogenesis; • negative regulation of oligodendrocyte differentiation; • positive regulation of cardiac muscle cell proliferation; • regulation of developmental process; • mesenchymal cell development; • animal organ regeneration; • Ангіогенез; • Сперматогенез; • negative regulation of pro-B cell differentiation; • regulation of cardioblast proliferation; • hair follicle morphogenesis; • vasculogenesis involved in coronary vascular morphogenesis; • negative regulation of canonical Wnt signaling pathway; • regulation of neurogenesis; • negative regulation of cell population proliferation; • collecting duct development; • positive regulation of neuroblast proliferation; • cilium assembly; • heart trabecula morphogenesis; • atrioventricular node development; • negative regulation of myoblast differentiation; • cell fate commitment; • regulation of transcription, DNA-templated; • cellular response to follicle-stimulating hormone stimulus; • lung development; • negative regulation of inner ear auditory receptor cell differentiation; • cardiac septum morphogenesis; • ventricular septum morphogenesis; • negative regulation of cell differentiation; • coronary artery morphogenesis; • response to muramyl dipeptide; • cardiac left ventricle morphogenesis; • in utero embryonic development; • negative regulation of cell death; • endocardial cell differentiation; • transcription, DNA-templated; • positive regulation of transcription, DNA-templated; • heart development; • prostate gland epithelium morphogenesis; • embryonic limb morphogenesis; • growth involved in heart morphogenesis; • neural tube development; • pericardium morphogenesis; • epidermis development; • cardiac atrium morphogenesis; • transcription initiation from RNA polymerase II promoter; • cardiac right atrium morphogenesis; • negative regulation of cell-substrate adhesion; • cell migration involved in endocardial cushion formation; • Диференціація клітин; • venous endothelial cell differentiation; • regulation of inner ear auditory receptor cell differentiation; • GO:0048553 negative regulation of catalytic activity; • inflammatory response to antigenic stimulus; • positive regulation of astrocyte differentiation; • positive regulation of epithelial cell proliferation; • cardiac right ventricle formation; • endocardial cushion development; • cell fate specification; • positive regulation of keratinocyte differentiation; • positive regulation of glial cell differentiation; • negative regulation of neurogenesis; • glomerular mesangial cell development; • sprouting angiogenesis; • glial cell differentiation; • negative regulation of transcription by RNA polymerase II; • cardiac muscle cell proliferation; • secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; • positive regulation of epithelial to mesenchymal transition; • ventricular trabecula myocardium morphogenesis; • neuronal stem cell population maintenance; • negative regulation of cell migration involved in sprouting angiogenesis; • response to lipopolysaccharide; • compartment pattern specification; • Імунна відповідь; • neuron differentiation; • Епітеліально-мезенхімальний перехід; • positive regulation of BMP signaling pathway; • skeletal muscle cell differentiation; • Регуляція експресії генів; • positive regulation of viral genome replication; • regulation of epithelial cell proliferation involved in prostate gland development; • negative regulation of transcription, DNA-templated; • cardiac ventricle morphogenesis; • branching morphogenesis of an epithelial tube; • positive regulation of receptor signaling pathway via JAK-STAT; • negative regulation of anoikis; • Notch signaling involved in heart development; • coronary vein morphogenesis; • apoptotic process involved in embryonic digit morphogenesis; • regulation of cell migration; • axonogenesis; • tissue regeneration; • positive regulation of cell migration; • somatic stem cell division; • cardiac muscle tissue morphogenesis; • negative regulation of endothelial cell chemotaxis; • keratinocyte differentiation; • negative regulation of BMP signaling pathway; • endocardial cushion morphogenesis; • endocardium development; • multicellular organism development; • auditory receptor cell fate commitment; • response to corticosteroid; • tube formation; • determination of left/right symmetry; • astrocyte differentiation; • negative regulation of calcium ion-dependent exocytosis; • brain development; • regulation of cell population proliferation; • positive regulation of cell population proliferation; • negative regulation of myotube differentiation; • positive regulation of apoptotic process; • positive regulation of transcription from RNA polymerase II promoter in response to hypoxia; • mitral valve formation; • liver development; • cardiac chamber formation; • forebrain development; • cellular response to vascular endothelial growth factor stimulus; • neuron fate commitment; • regulation of epithelial cell proliferation; • regulation of Notch signaling pathway; • left/right axis specification; • positive regulation of transcription by RNA polymerase II; • cardiac epithelial to mesenchymal transition; • embryonic hindlimb morphogenesis; • positive regulation of aorta morphogenesis; • venous blood vessel morphogenesis; • Notch signaling pathway; • negative regulation of gene expression; • negative regulation of growth rate; • positive regulation of Ras protein signal transduction; • positive regulation of ERK1 and ERK2 cascade; • positive regulation of transcription of Notch receptor target; • positive regulation of Notch signaling pathway; • outflow tract morphogenesis; • coronary sinus valve morphogenesis; • negative regulation of cell proliferation involved in heart valve morphogenesis; • negative regulation of extracellular matrix constituent secretion; • negative regulation of cardiac muscle hypertrophy; • positive regulation of gene expression; • homeostasis of number of cells within a tissue; • negative regulation of biomineral tissue development; • positive regulation of apoptotic process involved in morphogenesis; • positive regulation of cardiac epithelial to mesenchymal transition; • negative regulation of cold-induced thermogenesis;
	Джерела:Amigo / QuickGO
Шаблон експресії
	Більше даних
Ортологи
	4851
	18128
	ENSG00000148400
	ENSMUSG00000026923
	P46531
	Q01705
	NM_017617
	NM_008714
	NP_060087
	NP_032740
	Вікідані
Див./Ред. для людей	Див./Ред. для мишей

NOTCH1 (англ. Notch 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 9-ї хромосоми.[3] Довжина поліпептидного ланцюга білка становить 2 555 амінокислот, а молекулярна маса — 272 505[4].

Послідовність амінокислот

10	20	30	40	50
MPPLLAPLLC	LALLPALAAR	GPRCSQPGET	CLNGGKCEAA	NGTEACVCGG
AFVGPRCQDP	NPCLSTPCKN	AGTCHVVDRR	GVADYACSCA	LGFSGPLCLT
PLDNACLTNP	CRNGGTCDLL	TLTEYKCRCP	PGWSGKSCQQ	ADPCASNPCA
NGGQCLPFEA	SYICHCPPSF	HGPTCRQDVN	ECGQKPGLCR	HGGTCHNEVG
SYRCVCRATH	TGPNCERPYV	PCSPSPCQNG	GTCRPTGDVT	HECACLPGFT
GQNCEENIDD	CPGNNCKNGG	ACVDGVNTYN	CRCPPEWTGQ	YCTEDVDECQ
LMPNACQNGG	TCHNTHGGYN	CVCVNGWTGE	DCSENIDDCA	SAACFHGATC
HDRVASFYCE	CPHGRTGLLC	HLNDACISNP	CNEGSNCDTN	PVNGKAICTC
PSGYTGPACS	QDVDECSLGA	NPCEHAGKCI	NTLGSFECQC	LQGYTGPRCE
IDVNECVSNP	CQNDATCLDQ	IGEFQCICMP	GYEGVHCEVN	TDECASSPCL
HNGRCLDKIN	EFQCECPTGF	TGHLCQYDVD	ECASTPCKNG	AKCLDGPNTY
TCVCTEGYTG	THCEVDIDEC	DPDPCHYGSC	KDGVATFTCL	CRPGYTGHHC
ETNINECSSQ	PCRHGGTCQD	RDNAYLCFCL	KGTTGPNCEI	NLDDCASSPC
DSGTCLDKID	GYECACEPGY	TGSMCNINID	ECAGNPCHNG	GTCEDGINGF
TCRCPEGYHD	PTCLSEVNEC	NSNPCVHGAC	RDSLNGYKCD	CDPGWSGTNC
DINNNECESN	PCVNGGTCKD	MTSGYVCTCR	EGFSGPNCQT	NINECASNPC
LNQGTCIDDV	AGYKCNCLLP	YTGATCEVVL	APCAPSPCRN	GGECRQSEDY
ESFSCVCPTG	WQGQTCEVDI	NECVLSPCRH	GASCQNTHGG	YRCHCQAGYS
GRNCETDIDD	CRPNPCHNGG	SCTDGINTAF	CDCLPGFRGT	FCEEDINECA
SDPCRNGANC	TDCVDSYTCT	CPAGFSGIHC	ENNTPDCTES	SCFNGGTCVD
GINSFTCLCP	PGFTGSYCQH	DVNECDSQPC	LHGGTCQDGC	GSYRCTCPQG
YTGPNCQNLV	HWCDSSPCKN	GGKCWQTHTQ	YRCECPSGWT	GLYCDVPSVS
CEVAAQRQGV	DVARLCQHGG	LCVDAGNTHH	CRCQAGYTGS	YCEDLVDECS
PSPCQNGATC	TDYLGGYSCK	CVAGYHGVNC	SEEIDECLSH	PCQNGGTCLD
LPNTYKCSCP	RGTQGVHCEI	NVDDCNPPVD	PVSRSPKCFN	NGTCVDQVGG
YSCTCPPGFV	GERCEGDVNE	CLSNPCDARG	TQNCVQRVND	FHCECRAGHT
GRRCESVING	CKGKPCKNGG	TCAVASNTAR	GFICKCPAGF	EGATCENDAR
TCGSLRCLNG	GTCISGPRSP	TCLCLGPFTG	PECQFPASSP	CLGGNPCYNQ
GTCEPTSESP	FYRCLCPAKF	NGLLCHILDY	SFGGGAGRDI	PPPLIEEACE
LPECQEDAGN	KVCSLQCNNH	ACGWDGGDCS	LNFNDPWKNC	TQSLQCWKYF
SDGHCDSQCN	SAGCLFDGFD	CQRAEGQCNP	LYDQYCKDHF	SDGHCDQGCN
SAECEWDGLD	CAEHVPERLA	AGTLVVVVLM	PPEQLRNSSF	HFLRELSRVL
HTNVVFKRDA	HGQQMIFPYY	GREEELRKHP	IKRAAEGWAA	PDALLGQVKA
SLLPGGSEGG	RRRRELDPMD	VRGSIVYLEI	DNRQCVQASS	QCFQSATDVA
AFLGALASLG	SLNIPYKIEA	VQSETVEPPP	PAQLHFMYVA	AAAFVLLFFV
GCGVLLSRKR	RRQHGQLWFP	EGFKVSEASK	KKRREPLGED	SVGLKPLKNA
SDGALMDDNQ	NEWGDEDLET	KKFRFEEPVV	LPDLDDQTDH	RQWTQQHLDA
ADLRMSAMAP	TPPQGEVDAD	CMDVNVRGPD	GFTPLMIASC	SGGGLETGNS
EEEEDAPAVI	SDFIYQGASL	HNQTDRTGET	ALHLAARYSR	SDAAKRLLEA
SADANIQDNM	GRTPLHAAVS	ADAQGVFQIL	IRNRATDLDA	RMHDGTTPLI
LAARLAVEGM	LEDLINSHAD	VNAVDDLGKS	ALHWAAAVNN	VDAAVVLLKN
GANKDMQNNR	EETPLFLAAR	EGSYETAKVL	LDHFANRDIT	DHMDRLPRDI
AQERMHHDIV	RLLDEYNLVR	SPQLHGAPLG	GTPTLSPPLC	SPNGYLGSLK
PGVQGKKVRK	PSSKGLACGS	KEAKDLKARR	KKSQDGKGCL	LDSSGMLSPV
DSLESPHGYL	SDVASPPLLP	SPFQQSPSVP	LNHLPGMPDT	HLGIGHLNVA
AKPEMAALGG	GGRLAFETGP	PRLSHLPVAS	GTSTVLGSSS	GGALNFTVGG
STSLNGQCEW	LSRLQSGMVP	NQYNPLRGSV	APGPLSTQAP	SLQHGMVGPL
HSSLAASALS	QMMSYQGLPS	TRLATQPHLV	QTQQVQPQNL	QMQQQNLQPA
NIQQQQSLQP	PPPPPQPHLG	VSSAASGHLG	RSFLSGEPSQ	ADVQPLGPSS
LAVHTILPQE	SPALPTSLPS	SLVPPVTAAQ	FLTPPSQHSY	SSPVDNTPSH
QLQVPEHPFL	TPSPESPDQW	SSSSPHSNVS	DWSEGVSSPP	TSMQSQIARI
PEAFK

A: Аланін

C: Цистеїн

D: Аспарагінова кислота

E: Глутамінова кислота

F: Фенілаланін

G: Гліцин

H: Гістидин

I: Ізолейцин

K: Лізин

L: Лейцин

M: Метіонін

N: Аспарагін

P: Пролін

Q: Глутамін

R: Аргінін

S: Серин

T: Треонін

V: Валін

W: Триптофан

Y: Тирозин

Кодований геном білок за функціями належить до рецепторів, активаторів, білків розвитку, фосфопротеїнів. Задіяний у таких біологічних процесах, як транскрипція, регуляція транскрипції, ангіогенез, диференціація клітин. Білок має сайт для зв'язування з іонами металів, іоном кальцію. Локалізований у клітинній мембрані, ядрі, мембрані.

Література

Wu L., Sun T., Kobayashi K., Gao P., Griffin J.D. (2002). Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors.. Mol. Cell. Biol. 22: 7688 — 7700. PubMed DOI:10.1128/MCB.22.21.7688-7700.2002
Chastagner P., Israel A., Brou C. (2008). AIP4/Itch regulates Notch receptor degradation in the absence of ligand.. PLoS ONE 3: E2735 — E2735. PubMed DOI:10.1371/journal.pone.0002735
Chakrabarty B., Parekh N. (2014). Identifying tandem Ankyrin repeats in protein structures.. BMC Bioinformatics 15: 6599 — 6599. PubMed DOI:10.1186/s12859-014-0440-9
Vardar D., North C.L., Sanchez-Irizarry C., Aster J.C., Blacklow S.C. (2003). Nuclear magnetic resonance structure of a prototype Lin12-Notch repeat module from human Notch1.. Biochemistry 42: 7061 — 7067. PubMed DOI:10.1021/bi034156y
Ehebauer M.T., Chirgadze D.Y., Hayward P., Martinez Arias A., Blundell T.L. (2005). High-resolution crystal structure of the human Notch 1 ankyrin domain.. Biochem. J. 392: 13 — 20. PubMed DOI:10.1042/BJ20050515
Nam Y., Sliz P., Song L., Aster J.C., Blacklow S.C. (2006). Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes.. Cell 124: 973 — 983. PubMed DOI:10.1016/j.cell.2005.12.037

Примітки

Human PubMed Reference:.
Mouse PubMed Reference:.
HUGO Gene Nomenclature Commitee, HGNC:7881 (англ.). Процитовано 7 вересня 2017.
UniProt, P46531 (англ.). Процитовано 7 вересня 2017.

Див. також

Хромосома 9

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[1] Human PubMed Reference:.

[2] Mouse PubMed Reference:.

[HGNC-3] HUGO Gene Nomenclature Commitee, HGNC:7881 (англ.). Процитовано 7 вересня 2017.

[UniProt-4] UniProt, P46531 (англ.). Процитовано 7 вересня 2017.