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NOTCH1 notch 1 [ Homo sapiens (human) ]

Gene ID: 4851, updated on 8-Dec-2018

Summary

Official Symbol
NOTCH1provided by HGNC
Official Full Name
notch 1provided by HGNC
Primary source
HGNC:HGNC:7881
See related
Ensembl:ENSG00000148400 MIM:190198
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hN1; AOS5; TAN1; AOVD1
Summary
This gene encodes a member of the NOTCH family of proteins. Members of this Type I 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 signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in fat (RPKM 9.4), spleen (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See NOTCH1 in Genome Data Viewer
Location:
9q34.3
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (136494433..136545786, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139388896..139440238, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 open reading frame 163 Neighboring gene microRNA 4673 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CD3/CD28-activated primary CD4+ T cells downregulates plasma membrane expression of NOTCH1 PubMed
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of NOTCH1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of notch 1 (NOTCH1) in human B cells PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with NOTCH1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
  • Amplification and Expansion of Oncogenic Pathways as Metastatic Traits, organism-specific biosystem (from WikiPathways)
    Amplification and Expansion of Oncogenic Pathways as Metastatic Traits, organism-specific biosystemThis pathway is based on Figure 4 of "Origins of metastatic traits."(See Bibliography).The majority of cancer cells released from tumors die off, so cancer biologists are trying to figure out exactly...
  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
  • Defective LFNG causes SCDO3, organism-specific biosystem (from REACTOME)
    Defective LFNG causes SCDO3, organism-specific biosystemThe Fringe family (CAZy family GT31) of glycosyltransferases in mammals includes LFNG (lunatic fringe; MIM:602576), MFNG (manic fringe; MIM:602577) and RFNG (radical fringe; MIM:602578). Fringe enzym...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
    Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Dorso-ventral axis formation, organism-specific biosystem (from KEGG)
    Dorso-ventral axis formation, organism-specific biosystem
    Dorso-ventral axis formation
  • Dorso-ventral axis formation, conserved biosystem (from KEGG)
    Dorso-ventral axis formation, conserved biosystem
    Dorso-ventral axis formation
  • Endocrine resistance, organism-specific biosystem (from KEGG)
    Endocrine resistance, organism-specific biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
  • Endocrine resistance, conserved biosystem (from KEGG)
    Endocrine resistance, conserved biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystemFBXW7 (FBW7) is a component of the SCF (SKP1, CUL1, and F-box protein) ubiquitin ligase complex SCF-FBW7 which is involved in the degradation of NOTCH1 (Oberg et al. 2001, Wu et al. 2001, Fryer et al...
  • Gastric Cancer Network 1, organism-specific biosystem (from WikiPathways)
    Gastric Cancer Network 1, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Networks generated by Ingenuity Pathway Analysis.
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Gene regulatory network modelling somitogenesis, organism-specific biosystem (from WikiPathways)
    Gene regulatory network modelling somitogenesis, organism-specific biosystemReaction scheme of the proposed gene regulatory network (GRN). The scheme details the full GRN for one cell and part of a neighboring cell for those reactions that involve ligand-receptor interactio...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
  • Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling, organism-specific biosystem (from REACTOME)
    Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling, organism-specific biosystemLoss of function mutations found in FBXW7 in T-cell acute lymphoblastic leukemia are predominantly dominant negative missense mutations that target one of the three highly conserved arginine residues...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
    NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
  • NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystem (from WikiPathways)
    NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystemModel of NOTCH1 regulation of human endothelial cell calcification.
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • Notch signaling, organism-specific biosystem (from KEGG)
    Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling, conserved biosystem (from KEGG)
    Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
    Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
  • Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystemIn the endoplasmic reticulum, glycosyl transferases modify NOTCH precursors by glycosylating conserved serine and threonine residues in EGF repeats of NOTCH. O-fucosyl transferase POFUT1 fucosylates...
  • Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
  • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
    Presenilin action in Notch and Wnt signaling, organism-specific biosystem
    Presenilin action in Notch and Wnt signaling
  • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
    Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
  • Prion diseases, organism-specific biosystem (from KEGG)
    Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Prion diseases, conserved biosystem (from KEGG)
    Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
  • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
    Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
    Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
Notch binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enzyme inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Notch signaling involved in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
apoptotic process involved in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
arterial endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
atrioventricular node development IEA
Inferred from Electronic Annotation
more info
 
atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
cardiac atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac left ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right ventricle formation IEA
Inferred from Electronic Annotation
more info
 
cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac vascular smooth muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation in spinal cord IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IEA
Inferred from Electronic Annotation
more info
 
cell migration involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to follicle-stimulating hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
collecting duct development IEA
Inferred from Electronic Annotation
more info
 
compartment pattern specification IEA
Inferred from Electronic Annotation
more info
 
coronary artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
coronary sinus valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
coronary vein morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
distal tubule development IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
glomerular mesangial cell development IEA
Inferred from Electronic Annotation
more info
 
growth involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
heart trabecula morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-4 secretion IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
mitral valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of calcium ion-dependent exocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell migration involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation involved in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell-substrate adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of endothelial cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extracellular matrix constituent secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of growth rate IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of myotube differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pericardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process involved in morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription of Notch receptor target ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of viral genome replication IEA
Inferred from Electronic Annotation
more info
 
prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
regulation of extracellular matrix assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of somitogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
response to corticosteroid IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to muramyl dipeptide IEA
Inferred from Electronic Annotation
more info
 
secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis involved in coronary vascular morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
venous endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neurogenic locus notch homolog protein 1
Names
Notch homolog 1, translocation-associated
translocation-associated notch protein TAN-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007458.1 RefSeqGene

    Range
    4739..56354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1122

mRNA and Protein(s)

  1. NM_017617.5NP_060087.3  neurogenic locus notch homolog protein 1 preproprotein

    See identical proteins and their annotated locations for NP_060087.3

    Status: REVIEWED

    Source sequence(s)
    AB209873, AF308602, AL354671, AL592301, CN431067, DA324222, R42303
    Consensus CDS
    CCDS43905.1
    UniProtKB/Swiss-Prot
    P46531
    Related
    ENSP00000277541.6, ENST00000277541.7
    Conserved Domains (11) summary
    smart00004
    Location:14421479
    NL; Domain found in Notch and Lin-12
    cd00054
    Location:869905
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00204
    Location:19222034
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00008
    Location:10631093
    EGF; EGF-like domain
    pfam00066
    Location:14871522
    Notch; LNR domain
    pfam06816
    Location:15671618
    NOD; NOTCH protein
    pfam07684
    Location:16721729
    NODP; NOTCH protein
    pfam11235
    Location:24292514
    Med25_SD1; Mediator complex subunit 25 synapsin 1
    pfam11936
    Location:24792540
    DUF3454; Domain of unknown function (DUF3454)
    pfam12796
    Location:19322025
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:18801925
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    136494433..136545786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518717.2XP_011517019.2  neurogenic locus notch homolog protein 1 isoform X1

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