Format

Send to:

Choose Destination

NOTCH3 notch receptor 3 [ Homo sapiens (human) ]

Gene ID: 4854, updated on 5-Apr-2020

Summary

Official Symbol
NOTCH3provided by HGNC
Official Full Name
notch receptor 3provided by HGNC
Primary source
HGNC:HGNC:7883
See related
Ensembl:ENSG00000074181 MIM:600276
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
IMF2; LMNS; CASIL; CADASIL; CADASIL1
Summary
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 35.4), placenta (RPKM 33.8) and 22 other tissues See more
Orthologs

Genomic context

See NOTCH3 in Genome Data Viewer
Location:
19p13.12
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (15159038..15200995, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15270444..15311792, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 782, pseudogene Neighboring gene olfactory receptor family 10 subfamily B member 1 pseudogene Neighboring gene microRNA 6795 Neighboring gene epoxide hydrolase 3 Neighboring gene bromodomain containing 4

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
glomerular capillary formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neurogenic locus notch homolog protein 3
Names
Notch homolog 3
notch 3

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_009819.1 RefSeqGene

    Range
    4987..46944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000435.3NP_000426.2  neurogenic locus notch homolog protein 3 precursor

    See identical proteins and their annotated locations for NP_000426.2

    Status: REVIEWED

    Source sequence(s)
    AC004257, AC004663, U97669
    Consensus CDS
    CCDS12326.1
    UniProtKB/Swiss-Prot
    Q9UM47
    Related
    ENSP00000263388.1, ENST00000263388.7
    Conserved Domains (11) summary
    smart00179
    Location:657686
    EGF_CA; Calcium-binding EGF-like domain
    COG0666
    Location:17771893
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00054
    Location:158195
    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:18661992
    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 ...
    pfam00066
    Location:14251459
    Notch; LNR domain
    pfam06816
    Location:15081557
    NOD; NOTCH protein
    pfam07684
    Location:15781637
    NODP; NOTCH protein
    pfam11936
    Location:22122273
    DUF3454; Domain of unknown function (DUF3454)
    pfam12796
    Location:19102002
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:18581913
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:19051936
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    15159038..15200995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259924.4XP_005259981.1  neurogenic locus notch homolog protein 3 isoform X1

    Conserved Domains (10) summary
    COG0666
    Location:17251841
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00054
    Location:158195
    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:18141940
    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 ...
    pfam00066
    Location:13731407
    Notch; LNR domain
    pfam06816
    Location:14561505
    NOD; NOTCH protein
    pfam07684
    Location:15261585
    NODP; NOTCH protein
    pfam11936
    Location:21602221
    DUF3454; Domain of unknown function (DUF3454)
    pfam12796
    Location:18581950
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:18061861
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:18531884
    ANK; ANK repeat [structural motif]
Support Center