NOTCH1Gene Detail-Gene Database-Genelibs

NOTCH1 (notch receptor 1)

symbol

NOTCH1

locus group

protein-coding gene

location

9q34.3

gene_family

Ankyrin repeat domain containing

alias symbol

alias name

None

entrez id

4851

ensembl gene id

ENSG00000148400

ucsc gene id

uc004chz.4

refseq accession

NM_017617

hgnc_id

HGNC:7881

approved reserved

1992-02-13

9q34.3

ChineseEnglish

NOTCH1是NOTCH基因家族的重要成员之一，NOTCH家族包括NOTCH1、NOTCH2、NOTCH3和NOTCH4四个基因，它们在进化上高度保守，主要参与细胞间通讯，调控细胞分化、增殖和凋亡等关键生物学过程。NOTCH1编码的是一种跨膜受体蛋白，通过与配体（如Delta或Jagged家族蛋白）结合激活信号通路，影响胚胎发育、血管形成、免疫系统功能和造血过程。NOTCH1信号通路的核心机制是通过蛋白水解切割释放胞内结构域（NICD），后者进入细胞核与转录因子结合调控靶基因表达。NOTCH1的功能异常与多种疾病相关，例如在T细胞急性淋巴细胞白血病（T-ALL）中，NOTCH1的激活突变导致其持续活化，促进细胞过度增殖；而在某些实体瘤中，NOTCH1可能发挥抑癌作用。NOTCH1的突变或表达异常还与心血管疾病（如主动脉瓣疾病）、神经系统疾病和皮肤疾病（如鳞状细胞癌）密切相关。当NOTCH1过表达时，可能过度激活下游靶基因（如HES1、MYC），导致细胞增殖失控或分化障碍；而NOTCH1表达降低可能影响组织稳态和再生能力。NOTCH家族基因的共同特点是均含有多个EGF样重复序列和跨膜结构域，通过相似的配体-受体机制传递信号，但在不同组织和发育阶段具有特异性功能。NOTCH1的功能高度依赖于细胞环境，其调控异常可能破坏细胞命运决定，因此在癌症、发育障碍和退行性疾病中具有重要研究价值。

该基因编码所述Notch家族的一个成员。这种类型1的跨膜蛋白家族的成员共有的结构特征，包括由多个表皮生长因子样（EGF）的胞外域重复，和由多个不同的域类型的细胞内结构域。缺口家族成员通过控制细胞命运决定发挥各种发育过程中的作用。 Notch信号网络是其调节物理相邻细胞间的相互作用的进化上保守的细胞间信号传导途径。在Drosophilia，其细胞结合的配体（三角形，锯齿）缺口交互规定，起着发展的重要作用，细胞间信号通路。缺口配体的同系物也已在人确定，但这些配体与人Notch同源物之间的精确相互作用仍有待确定。这种蛋白质被裂解反式高尔基网络中，并呈现在细胞表面作为异二聚体上。这种蛋白质的功能，作为膜结合的配体的受体，并可能在开发过程中扮演多个角色。 [由RefSeq的，2008年7月提供]

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008]

OMIM entry for NOTCH1 Wikipedia entry for NOTCH1

Nucleotide sequence of NOTCH1:[NCBI]

Loading Gene Browser...

Protein Sequence

1MPPLLAPLLC LALLPALAAR GPRCSQPGET CLNGGKCEAA
41NGTEACVCGG AFVGPRCQDP NPCLSTPCKN AGTCHVVDRR
81
GVADYACSC ALGFSGPLCL TPLDNACLTN PCRNGGTCDL
121LTLTEYKCRC PPGWSGKSCQ QADPCASNPC ANGGQCLPFE
161A
SYICHCPP SFHGPTCRQD VNECGQKPGL CRHGGTCHNE
201VGSYRCVCRA THTGPNCERP YVPCSPSPCQ NGGTCRPTGD
241VT
HECACLP GFTGQNCEEN IDDCPGNNCK NGGACVDGVN
281TYNCRCPPEW TGQYCTEDVD ECQLMPNACQ NGGTCHNTHG
321GYN
CVCVNG WTGEDCSENI DDCASAACFH GATCHDRVAS
361FYCECPHGRT GLLCHLNDAC ISNPCNEGSN CDTNPVNGKA
401ICTC
PSGYT GPACSQDVDE CSLGANPCEH AGKCINTLGS
441FECQCLQGYT GPRCEIDVNE CVSNPCQNDA TCLDQIGEFQ
481CICMP
GYEG VHCEVNTDEC ASSPCLHNGR CLDKINEFQC
521ECPTGFTGHL CQYDVDECAS TPCKNGAKCL DGPNTYTCVC
561TEGYTG
THC EVDIDECDPD PCHYGSCKDG VATFTCLCRP
601GYTGHHCETN INECSSQPCR HGGTCQDRDN AYLCFCLKGT
641TGPNCEI
NL DDCASSPCDS GTCLDKIDGY ECACEPGYTG
681SMCNINIDEC AGNPCHNGGT CEDGINGFTC RCPEGYHDPT
721CLSEVNEC
N SNPCVHGACR DSLNGYKCDC DPGWSGTNCD
761INNNECESNP CVNGGTCKDM TSGYVCTCRE GFSGPNCQTN
801INECASNPC
 LNQGTCIDDV AGYKCNCLLP YTGATCEVVL
841APCAPSPCRN GGECRQSEDY ESFSCVCPTG WQGQTCEVDI
881NECVLSPCRH 
GASCQNTHG GYRCHCQAGY SGRNCETDID
921DCRPNPCHNG GSCTDGINTA FCDCLPGFRG TFCEEDINEC
961ASDPCRNGAN C
TDCVDSYT CTCPAGFSGI HCENNTPDCT
1001ESSCFNGGTC VDGINSFTCL CPPGFTGSYC QHDVNECDSQ
1041PCLHGGTCQD GC
GSYRCTC PQGYTGPNCQ NLVHWCDSSP
1081CKNGGKCWQT HTQYRCECPS GWTGLYCDVP SVSCEVAAQR
1121QGVDVARLCQ HGG
LCVDAG NTHHCRCQAG YTGSYCEDLV
1161DECSPSPCQN GATCTDYLGG YSCKCVAGYH GVNCSEEIDE
1201CLSHPCQNGG TCLD
LPNTY KCSCPRGTQG VHCEINVDDC
1241NPPVDPVSRS PKCFNNGTCV DQVGGYSCTC PPGFVGERCE
1281GDVNECLSNP CDARG
TQNC VQRVNDFHCE CRAGHTGRRC
1321ESVINGCKGK PCKNGGTCAV ASNTARGFIC KCPAGFEGAT
1361CENDARTCGS LRCLNG
GTC ISGPRSPTCL CLGPFTGPEC
1401QFPASSPCLG GNPCYNQGTC EPTSESPFYR CLCPAKFNGL
1441LCHILDYSFG GGAGRDI
PP PLIEEACELP ECQEDAGNKV
1481CSLQCNNHAC GWDGGDCSLN FNDPWKNCTQ SLQCWKYFSD
1521GHCDSQCNSA GCLFDGFD
C QRAEGQCNPL YDQYCKDHFS
1561DGHCDQGCNS AECEWDGLDC AEHVPERLAA GTLVVVVLMP
1601PEQLRNSSFH FLRELSRVL
 HTNVVFKRDA HGQQMIFPYY
1641GREEELRKHP IKRAAEGWAA PDALLGQVKA SLLPGGSEGG
1681RRRRELDPMD VRGSIVYLEI 
DNRQCVQAS SQCFQSATDV
1721AAFLGALASL GSLNIPYKIE AVQSETVEPP PPAQLHFMYV
1761AAAAFVLLFF VGCGVLLSRK R
RRQHGQLW FPEGFKVSEA
1801SKKKRREPLG EDSVGLKPLK NASDGALMDD NQNEWGDEDL
1841ETKKFRFEEP VVLPDLDDQT DH
RQWTQQH LDAADLRMSA
1881MAPTPPQGEV DADCMDVNVR GPDGFTPLMI ASCSGGGLET
1921GNSEEEEDAP AVISDFIYQG ASL
HNQTDR TGETALHLAA
1961RYSRSDAAKR LLEASADANI QDNMGRTPLH AAVSADAQGV
2001FQILIRNRAT DLDARMHDGT TPLI
LAARL AVEGMLEDLI
2041NSHADVNAVD DLGKSALHWA AAVNNVDAAV VLLKNGANKD
2081MQNNREETPL FLAAREGSYE TAKVL
LDHF ANRDITDHMD
2121RLPRDIAQER MHHDIVRLLD EYNLVRSPQL HGAPLGGTPT
2161LSPPLCSPNG YLGSLKPGVQ GKKVRK
PSS KGLACGSKEA
2201KDLKARRKKS QDGKGCLLDS SGMLSPVDSL ESPHGYLSDV
2241ASPPLLPSPF QQSPSVPLNH LPGMPDT
HL GIGHLNVAAK
2281PEMAALGGGG RLAFETGPPR LSHLPVASGT STVLGSSSGG
2321ALNFTVGGST SLNGQCEWLS RLQSGMVP
N QYNPLRGSVA
2361PGPLSTQAPS LQHGMVGPLH SSLAASALSQ MMSYQGLPST
2401RLATQPHLVQ TQQVQPQNLQ MQQQNLQPA
 NIQQQQSLQP
2441PPPPPQPHLG VSSAASGHLG RSFLSGEPSQ ADVQPLGPSS
2481LAVHTILPQE SPALPTSLPS SLVPPVTAAQ 
FLTPPSQHS
2521YSSPVDNTPS HQLQVPEHPF LTPSPESPDQ WSSSSPHSNV
2561SDWSEGVSSP PTSMQSQIAR IPEAFK

Structure predicted by AlphaFold DB(UniProt: P46531). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of NOTCH1: Showing partial SNPs

rs2990583 rs3013306 rs3013307 rs7028061 rs76565670 rs78111260 rs80119016 rs113120950 rs113593023 rs115229656 rs116201188 rs139200306 rs143335655 rs183098625 rs187921301 rs192078477 rs192338845

Tissue expression of NOTCH1: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

ACCTGGAGATTGACAACCG

AACTTCAAATCGCTGCACTC

CAACATCCAGGACAACATGG

CGGATCAGGATCTGGAAGAC

CCTCCTACATCTGCCACTG

CCACACTCGTTGACATCCT

ACATCCAGGACAACATGGG

CGGATCAGGATCTGGAAGAC

TACCTGGAGATTGACAACCG

ACTTCAAATCGCTGCACTC

CCTCCTACATCTGCCACTG

CACACTCGTTGACATCCTG

ACCTGGAGATTGACAACCG

ACTTCAAATCGCTGCACTC

AACATCCAGGACAACATGG

GATCAGGATCTGGAAGACAC

Transcription Factors

Target Gene

Interaction Type

PubMed References

KLF5

NOTCH1

Activation

21868761

SIRT1

NOTCH1

Repression

23028940

Subcellular localization of NOTCH1 (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for NOTCH1:

GO ID

Protein

Source DB

GO:0000122

P46531 (UniProtKB)

ISS

GO:0000122

P46531 (UniProtKB)

ISS

GO:0000139

P46531 (UniProtKB)

TAS

GO:0000139

P46531 (UniProtKB)

TAS

GO:0000139

P46531 (UniProtKB)

TAS

GO:0000139

P46531 (UniProtKB)

TAS

GO:0000139

P46531 (UniProtKB)

TAS

GO:0001047

P46531 (UniProtKB)

ISS

GO:0001190

P46531 (UniProtKB)

ISS

GO:0001669

P46531 (UniProtKB)

IEA

GO:0001701

P46531 (UniProtKB)

IEA

GO:0001708

P46531 (UniProtKB)

IEA

GO:0001837

P46531 (UniProtKB)

ISS

GO:0001889

P46531 (UniProtKB)

IEA

GO:0001947

P46531 (UniProtKB)

ISS

GO:0002040

P46531 (UniProtKB)

IEA

GO:0002052

P46531 (UniProtKB)

IEA

GO:0002193

P46531 (UniProtKB)

IDA

GO:0002437

P46531 (UniProtKB)

IEA

GO:0003157

P46531 (UniProtKB)

ISS

GO:0003160

P46531 (UniProtKB)

ISS

GO:0003162

P46531 (UniProtKB)

IEA

GO:0003169

P46531 (UniProtKB)

ISS

GO:0003180

P46531 (UniProtKB)

IMP

GO:0003180

P46531 (UniProtKB)

IMP

GO:0003181

P46531 (UniProtKB)

ISS

GO:0003184

P46531 (UniProtKB)

IMP

GO:0003192

P46531 (UniProtKB)

IMP

GO:0003198

P46531 (UniProtKB)

ISS

GO:0003203

P46531 (UniProtKB)

ISS

GO:0003207

P46531 (UniProtKB)

ISS

GO:0003208

P46531 (UniProtKB)

ISS

GO:0003209

P46531 (UniProtKB)

ISS

GO:0003213

P46531 (UniProtKB)

ISS

GO:0003214

P46531 (UniProtKB)

ISS

GO:0003219

P46531 (UniProtKB)

IEA

GO:0003222

P46531 (UniProtKB)

ISS

GO:0003241

P46531 (UniProtKB)

ISS

GO:0003256

P46531 (UniProtKB)

ISS

GO:0003270

P46531 (UniProtKB)

IEA

GO:0003273

P46531 (UniProtKB)

ISS

GO:0003344

P46531 (UniProtKB)

ISS

GO:0003700

P46531 (UniProtKB)

IEA

GO:0004857

P46531 (UniProtKB)

ISS

GO:0004872

P46531 (UniProtKB)

IEA

GO:0005112

P46531 (UniProtKB)

IEA

GO:0005509

P46531 (UniProtKB)

IEA

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005515

P46531 (UniProtKB)

IPI

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005576

P46531 (UniProtKB)

TAS

GO:0005634

P46531 (UniProtKB)

ISS

GO:0005634

P46531 (UniProtKB)

ISS

GO:0005634

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005654

P46531 (UniProtKB)

TAS

GO:0005789

P46531 (UniProtKB)

TAS

GO:0005829

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005886

P46531 (UniProtKB)

TAS

GO:0005912

P46531 (UniProtKB)

ISS

GO:0006355

P46531 (UniProtKB)

TAS

GO:0006367

P46531 (UniProtKB)

TAS

GO:0006955

P46531 (UniProtKB)

NAS

GO:0006959

P46531 (UniProtKB)

IEA

GO:0007219

P46531 (UniProtKB)

TAS

GO:0007219

P46531 (UniProtKB)

IMP

GO:0007219

P46531 (UniProtKB)

TAS

GO:0007221

P46531 (UniProtKB)

ISS

GO:0007283

P46531 (UniProtKB)

IEA

GO:0007368

P46531 (UniProtKB)

ISS

GO:0007386

P46531 (UniProtKB)

IEA

GO:0007409

P46531 (UniProtKB)

IEA

GO:0007440

P46531 (UniProtKB)

IEA

GO:0007492

P46531 (UniProtKB)

IEA

GO:0007507

P46531 (UniProtKB)

IMP

GO:0008284

P46531 (UniProtKB)

IDA

GO:0008284

P46531 (UniProtKB)

IMP

GO:0008285

P46531 (UniProtKB)

IDA

GO:0009912

P46531 (UniProtKB)

IEA

GO:0009986

P46531 (UniProtKB)

IEA

GO:0010718

P46531 (UniProtKB)

IMP

GO:0010812

P46531 (UniProtKB)

IDA

GO:0010832

P46531 (UniProtKB)

ISS

GO:0014031

P46531 (UniProtKB)

ISS

GO:0014807

P46531 (UniProtKB)

IEA

GO:0016021

P46531 (UniProtKB)

IEA

GO:0016324

P46531 (UniProtKB)

ISS

GO:0019899

P46531 (UniProtKB)

ISS

GO:0021515

P46531 (UniProtKB)

IEA

GO:0021915

P46531 (UniProtKB)

IEA

GO:0030216

P46531 (UniProtKB)

IEA

GO:0030279

P46531 (UniProtKB)

ISS

GO:0030324

P46531 (UniProtKB)

IEA

GO:0030335

P46531 (UniProtKB)

ISS

GO:0030513

P46531 (UniProtKB)

ISS

GO:0030514

P46531 (UniProtKB)

ISS

GO:0030514

P46531 (UniProtKB)

ISS

GO:0030900

P46531 (UniProtKB)

IEA

GO:0031069

P46531 (UniProtKB)

IEA

GO:0031100

P46531 (UniProtKB)

IEA

GO:0031490

P46531 (UniProtKB)

IEA

GO:0031960

P46531 (UniProtKB)

IEA

GO:0032495

P46531 (UniProtKB)

IEA

GO:0032496

P46531 (UniProtKB)

IEA

GO:0035116

P46531 (UniProtKB)

IEA

GO:0035148

P46531 (UniProtKB)

IMP

GO:0035914

P46531 (UniProtKB)

IEA

GO:0035924

P46531 (UniProtKB)

IDA

GO:0042246

P46531 (UniProtKB)

IEA

GO:0043065

P46531 (UniProtKB)

IEA

GO:0043086

P46531 (UniProtKB)

ISS

GO:0043235

P46531 (UniProtKB)

IDA

GO:0043565

P46531 (UniProtKB)

IEA

GO:0045070

P46531 (UniProtKB)

IEA

GO:0045603

P46531 (UniProtKB)

IEA

GO:0045608

P46531 (UniProtKB)

IEA

GO:0045618

P46531 (UniProtKB)

IEA

GO:0045662

P46531 (UniProtKB)

IMP

GO:0045668

P46531 (UniProtKB)

ISS

GO:0045668

P46531 (UniProtKB)

ISS

GO:0045747

P46531 (UniProtKB)

IEA

GO:0045892

P46531 (UniProtKB)

ISS

GO:0045892

P46531 (UniProtKB)

ISS

GO:0045893

P46531 (UniProtKB)

ISS

GO:0045944

P46531 (UniProtKB)

ISS

GO:0045944

P46531 (UniProtKB)

ISS

GO:0045944

P46531 (UniProtKB)

IDA

GO:0045955

P46531 (UniProtKB)

IEA

GO:0046427

P46531 (UniProtKB)

ISS

GO:0046533

P46531 (UniProtKB)

IEA

GO:0046982

P46531 (UniProtKB)

IEA

GO:0048103

P46531 (UniProtKB)

IEA

GO:0048708

P46531 (UniProtKB)

IEA

GO:0048709

P46531 (UniProtKB)

IEA

GO:0048711

P46531 (UniProtKB)

ISS

GO:0048715

P46531 (UniProtKB)

ISS

GO:0048754

P46531 (UniProtKB)

IEA

GO:0050434

P46531 (UniProtKB)

IEA

GO:0050679

P46531 (UniProtKB)

IEA

GO:0050768

P46531 (UniProtKB)

ISS

GO:0055008

P46531 (UniProtKB)

ISS

GO:0060038

P46531 (UniProtKB)

IEA

GO:0060045

P46531 (UniProtKB)

ISS

GO:0060253

P46531 (UniProtKB)

ISS

GO:0060271

P46531 (UniProtKB)

ISS

GO:0060317

P46531 (UniProtKB)

ISS

GO:0060411

P46531 (UniProtKB)

ISS

GO:0060412

P46531 (UniProtKB)

IMP

GO:0060528

P46531 (UniProtKB)

IEA

GO:0060740

P46531 (UniProtKB)

IEA

GO:0060768

P46531 (UniProtKB)

IEA

GO:0060842

P46531 (UniProtKB)

ISS

GO:0060843

P46531 (UniProtKB)

ISS

GO:0060948

P46531 (UniProtKB)

ISS

GO:0060956

P46531 (UniProtKB)

ISS

GO:0060979

P46531 (UniProtKB)

ISS

GO:0060982

P46531 (UniProtKB)

ISS

GO:0061314

P46531 (UniProtKB)

IMP

GO:0061314

P46531 (UniProtKB)

IMP

GO:0061384

P46531 (UniProtKB)

ISS

GO:0061419

P46531 (UniProtKB)

ISS

GO:0070986

P46531 (UniProtKB)

IEA

GO:0071372

P46531 (UniProtKB)

IDA

GO:0072017

P46531 (UniProtKB)

IEA

GO:0072044

P46531 (UniProtKB)

IEA

GO:0072144

P46531 (UniProtKB)

IEA

GO:0072602

P46531 (UniProtKB)

IEA

GO:0090051

P46531 (UniProtKB)

IDA

GO:0090090

P46531 (UniProtKB)

IEA

GO:0097150

P46531 (UniProtKB)

IEP

GO:1901201

P46531 (UniProtKB)

ISS

GO:1902263

P46531 (UniProtKB)

IEA

GO:2000737

P46531 (UniProtKB)

IMP

GO:2000811

P46531 (UniProtKB)

IMP

GO:2000974

P46531 (UniProtKB)

ISS

GO:2001027

P46531 (UniProtKB)

IDA

microRNAs potentially regulating NOTCH1:

hsa-miR-23b hsa-miR-24 hsa-miR-27b hsa-mir-34 hsa-miR-181b hsa-miR-200b hsa-miR-200b* hsa-miR-23b* hsa-miR-26b hsa-miR-26b*

String

BioGrid

IntAct

mentha

MINT

Reactome

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Interacting Gene	Interaction	Source/Score

KEGG
Reactomepathway

Name
4330 Notch signaling pathway [PATH:hsa04330]
4919 Thyroid hormone signaling pathway [PATH:hsa04919]
4320 Dorso-ventral axis formation [PATH:hsa04320]
5206 MicroRNAs in cancer [PATH:hsa05206]
5020 Prion diseases [PATH:hsa05020]

Name
A third proteolytic cleavage releases NICD
Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Developmental Biology
Disease
Diseases of signal transduction
FBXW7 Mutants and NOTCH1 in Cancer
Gene Expression
Generic Transcription Pathway
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
NICD traffics to nucleus
Notch-HLH transcription pathway
NOTCH1 Intracellular Domain Regulates Transcription
Pre-NOTCH Expression and Processing
Pre-NOTCH Processing in Golgi
Pre-NOTCH Processing in the Endoplasmic Reticulum
Pre-NOTCH Transcription and Translation
Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
Regulation of beta-cell development
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
Signaling by NOTCH
Signaling by NOTCH1
Signaling by NOTCH1 HD Domain Mutants in Cancer
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
Signaling by NOTCH1 in Cancer
Signaling by NOTCH1 PEST Domain Mutants in Cancer
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	0.168499676	120	0	BeFree_CTD_human_GAD_LHGDN
Mammary Neoplasms	0.135250402	12	0	BeFree_CTD_human_LHGDN
Lymphoma	0.133601888	23	0	BeFree_CTD_human_LHGDN
Leukemia, T-Cell	0.130887469	12	0	BeFree_CTD_human_LHGDN
Glioblastoma	0.122714419	11	0	BeFree_CTD_human
Congenital Abnormality	0.121628651	6	1	BeFree_CTD_human
Aortic valve disorder	0.120814326	3	2	BeFree_CLINVAR
Squamous cell carcinoma of esophagus	0.120814326	4	0	BeFree_CTD_human
Adams Oliver syndrome	0.120542884	2	0	BeFree_ORPHANET
Astrocytoma	0.120542884	3	0	BeFree_CTD_human

The role of Notch signalling and its crosstalk with oestrogen receptor signalling in breast cancer.

Azadova A, Isayev O, Marco A, Brooke GN Cancer Metastasis Rev IF: 12.7 2026-03-27

Ginsenoside Rb1 downregulates proinflammatory cytokines expression via the Tlr2/Tlr4 signaling pathway in mice with experimental autoimmune myocarditis.

Li Y, Jia C, Hu J, Tang C, Zheng T, Wang J, Niu C, Liu Z, Bai Z, Wang Y Biochem Biophys Res Commun IF: 2.5 2026-05-28

Renoprotective effects of DAPT against zymosan-induced acute kidney injury and senescence: Unraveling the role of toll like receptor 2 and Notch1 signaling pathways through an integrated in vivo and in silico analysis.

Safwat MH, Abd El-Aleam RH, Rashad E, El-Tanbouly DM, Ibrahim SM, Fathy N Eur J Pharmacol IF: 5.7 2026-04-15

Molecular subtyping-guided precision therapy for ESCC: biomarker-driven strategies and clinical translation pathways.

Lv H, Zhao W, Wang SQ, Chen XB Clin Transl Oncol IF: 2.7 2026-09-00

Targeting notch signaling to restore neural development and behavior in mouse models of ASD.

Hanno Y, Nakanishi M, Takase A, Nomura J, Tanaka M, Iida Y, Tanaka M, Hosokawa H, Ito M, Mikami K, Hozumi K, Miyoshi G, Takumi T, Iijima T Nat Commun IF: 12.124 2026-03-30

Cordycepin alleviates ischaemic brain injury by suppressing microglia-induced neuroinflammation via regulating the Notch1 signalling pathway.

Li X, Zhan GF, Zhang X, Zhao YL, Mao M, Xia Q Br J Pharmacol IF: 7.5 2026-07-00

NOTCH4 as a driver of epithelial-mesenchymal transition, angiogenesis, and stromal remodeling in lung adenocarcinoma: integrated transcriptomic and protein-level validation.

Koh YW, Han JH, Haam S, Lee HW Transl Lung Cancer Res IF: 3.4 2026-03-23

HDAC3 Regulates Transcriptional Networks Governing Decidualization.

Nguyen LTK, Tran DN, Nahar S, Kim TH, Jeong JW, Yoo JY FASEB J IF: 4.3 2026-04-30

Orai1 Facilitates Angiogenesis After Myocardial Infarction Through Notch1 Signaling Pathway.

Galeano-Otero I, Dominguez-Liste B, Asprón C, Fernández-Chacón M, Escacena-Izquierdo L, Del Toro R, Rojas-Torres M, Durán-Ruiz MC, Siegfried G, Ordóñez-Fernández A, Khatib AM, Rosado JA, Smani T Arterioscler Thromb Vasc Biol IF: 8.8 2026-06-00

NOTCH1 acts as a tumor suppressor that induces early differentiation in head and neck cancer.

Huang C, Moorthy S, Li Q, Ahmed KM, Saab K, Deng D, Wang J, Rao X, Zhang J, Xi Y, Wang J, Liu Z, Tanaka N, Wheeler DA, Shinbrot E, Saade R, Pickering CR, Xie TX, El-Naggar AK, Osman AA, Rai K, Zweidler-McKay PA, Heymach JV, Byers LA, Johnson FM, Sandulache VC, Myers JN, Yadollahi P, Frederick MJ JCI Insight 2026-06-08

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NOTCH1 (notch receptor 1)

Gene Basic Information

Gene Basic Information

Chromosome Location

Chromosome Location

Gene Summary

Gene Summary

Gene Sequence

Gene Sequence

Encoded Protein

Encoded Protein

Gene Variants

Gene Variants

Gene Expression

Gene Expression

Gene Primers

Gene Primers

Transcription Factors

Transcription Factors

Gene Ontology

Related microRNA

Related microRNA

Gene Interactions

Gene Interactions

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

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Related Publications

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