| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 4851 |
Name | NOTCH1 |
Synonymous | TAN1|hN1;notch 1;NOTCH1;notch 1 |
Definition | Notch homolog 1, translocation-associated|neurogenic locus notch homolog protein 1|translocation-associated notch protein TAN-1 |
Position | 9q34.3 |
Gene Type | protein-coding |
Gene Regulation: | ENCODE RegulomeDB Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database |
ENCODE RegulomeDB [Top] | |||
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Link to UCSC genome |
Matched SNP location |
dbSNP ID |
Regulatory information |
chr9:139388896-139440314 | chr9:139389184-139389184 | rs6563 | Single_Nucleotides|eQTL|ANAPC2, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap | chr9:139388896-139440314 | chr9:139395473-139395473 | rs3124999 | Single_Nucleotides|eQTL|INPP5E, Motifs|Footprinting|NRSF, Motifs|PWM|NRSF, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmmt, Protein_Binding|ChIP-seq|TAF1 | chr9:139388896-139440314 | chr9:139396113-139396113 | rs11574906 | Single_Nucleotides|eQTL|CARD9, Single_Nucleotides|eQTL|INPP5E, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hepatocytes | chr9:139388896-139440314 | chr9:139396408-139396408 | rs3124594 | Single_Nucleotides|eQTL|DNLZ, Single_Nucleotides|eQTL|INPP5E, Single_Nucleotides|eQTL|INPP5E, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|PWM|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|MYF, Motifs|Footprinting|Myf, Motifs|Footprinting|Myf, Motifs|Footprinting|MYF, Motifs|Footprinting|MyoD, Motifs|PWM|MyoD, Motifs|Footprinting|MyoD, Motifs|Footprinting|MyoD, Motifs|PWM|E12, Motifs|Footprinting|E12, Motifs|Footprinting|E12, Motifs|PWM|HIC1, Motifs|PWM|MYF, Motifs|PWM|Myf, Motifs|PWM|Myf6, Motifs|Footprinting|E2A, Motifs|Footprinting|Myf, Motifs|Footprinting|MyoD, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Progfib | chr9:139388896-139440314 | chr9:139399070-139399070 | rs11574903 | Single_Nucleotides|eQTL|INPP5E, Single_Nucleotides|eQTL|INPP5E, Single_Nucleotides|eQTL|INPP5E, Motifs|PWM|PLAG1, Motifs|PWM|SP4, Motifs|PWM|CKROX, Motifs|PWM|MAZ, Motifs|Footprinting|PLAG1, Motifs|Footprinting|PLAG1, Motifs|Footprinting|PLAG1, Motifs|Footprinting|PLAG1, Motifs|Footprinting|PLAG1, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Fibrobl | chr9:139388896-139440314 | chr9:139401504-139401504 | rs3124596 | Single_Nucleotides|eQTL|CARD9, Single_Nucleotides|eQTL|INPP5E, Single_Nucleotides|eQTL|INPP5E, Single_Nucleotides|eQTL|INPP5E, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Progfib |
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Transcription Factors [Top] |
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Regulation From TransFac database |
Notch1(h) --/ E47(h) (decrease of abundance) | Notch1(h) --> ERK1(m){p} (increase of phosphorylation) | Notch1(h) --> ERK2(m){p} (increase of phosphorylation) | Notch1(h) --> E47(h){ub(n)} (increase of ubiquitination) | Notch1(h) --> E47(h){p}:Skp2(h) (increase of binding) | Notch1(h) --> ERK1(h){p} (increase of phosphorylation) | Notch1(h) --> ERK2(h){p} (increase of phosphorylation) | Notch1(h) --/ E2A(m) (decrease of abundance) | Notch1(h) --/ E2A(h) (decrease of abundance) | Notch1(h) --> Notch1-p82(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p77(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p70(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p48(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p45(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p40(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p32(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p28(h) + protein remnants (cleavage) | Notch1(h) --> Notch1-p22(h) + protein remnants (cleavage) | Notch1(h) --> KRT1(h) (transactivation) | NOTCH1(h) --> Notch1(h) (expression). | Jagged1(h) --/ Notch1(h) (decrease of abundance) | EGF(m.s.) --/ Notch1(h) (decrease of abundance) | ErbB1(h) --/ Notch1(h) (decrease of abundance) | c-Jun(h) --/ Notch1(h) (decrease of abundance) | Notch1(h) --> NICD1(h) + protein remnants (cleavage) | Notch1(h) --> Notch1TM(h) + Notch1EC(h) (cleavage) | Notch1(h) --> PTEN(h) (DNA binding; transactivation). | NOTCH1(h) --> Notch1(h) (expression). | NOTCH1(h) --> NOTCH1(h) (expression). | hsa-miR-134 --/ NOTCH1(h) (predicted) | hsa-miR-34a --/ NOTCH1(h) (predicted) | hsa-miR-34c --/ NOTCH1(h) (predicted) |
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Post Transcriptional Modification [Top] | |||
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Location (AA) |
PTM type |
Literature |
Database |
41 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 960 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 1180 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 1242 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 1490 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 | 1588 | N-linked (GlcNAc...) (Potential). | Swiss-Prot 53.0 |
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Methylation Profile [Top] | ||
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Chromosome |
Location |
Source |
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chr9 |
Promoter: 138559559 - 138561559 | Agilent_014791 |
chr9 |
Promoter: 138559559 - 138561559 | GoldenGate_Methylation_Cancer_Panel_I |
chr9 |
Promoter: 138559559 - 138561559 | GSE27584 |
chr9 |
Promoter: 138559559 - 138561559 | Agilent_014791_44K |