• Gene id: 4854

Gene Summary

• Gene Symbol: NOTCH3   Gene   UCSC   Ensembl
• Aliases: CADASIL, CADASIL1, CASIL, IMF2, LMNS
• Gene name: notch receptor 3
• Alternate names: neurogenic locus notch homolog protein 3, Notch homolog 3, notch 3,
• Gene location: 19p13.12 (15200994: 15159037)     Exons: 33     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 117140

Protein Summary

• Protein general information: Q9UM47  
  • Name: Neurogenic locus notch homolog protein 3 (Notch 3) [Cleaved into: Notch 3 extracellular truncation; Notch 3 intracellular domain]
  • Length: 2321  
  • Mass: 243631
  • Tissue specificity: Ubiquitously expressed in fetal and adult tissues.
• Sequence:

  MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPGWVGER
  CQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDGRFLCSCPPGY
  QGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACL
  PGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSC
  VCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPCHEDAICDTNPVNGRA
  ICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCGRGYTGPRCETDVNECLSGPCRNQATCLDRI
  GQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQ
  PDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDL
  VDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDG
  ENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCS
  SDGMGFHCTCPPGVQGRQCELLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGI
  CTNLAGSFSCTCHGGYTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT
  CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGG
  VCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVR
  LEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDE
  CASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGL
  RCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQCRPSPGPGGGLTFTC
  HCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGSPPGASNASCAAAPCLHGGSC
  RPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPW
  RQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDC
  ASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAP
  EVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAG
  AVLLLVILVLGVMVARRKREHSTLWFPEGFSLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTE
  CPEAKRLKVEEPGMGAEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCG
  GALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRTP
  LHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVN
  NVEATLALLKNGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLD
  QPSGPRSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS
  PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPLDWARL
  PPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHSSPPKARFLRVPSEHPYLTPSPE
  SPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA

• Structural information:
  • Protein Domains: (40..7-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (78..11-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (119..15-)
    (/note="EGF-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR024600  IPR001881   IPR013032  IPR000742  IPR000152  IPR018097  IPR009030  IPR008297  IPR035993  IPR022331  IPR000800  IPR010660  IPR011656  
  • Prosite: PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258
  • PDB: 4ZLP 5CZV 5CZX
  • PDBsum: 4ZLP 5CZV 5CZX
  • DIP: 39827
  • STRING: ENSP00000263388
• Other Databases: GeneCards:  NOTCH3  Malacards:  NOTCH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0050793	regulation of developmental process	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072104	glomerular capillary formation	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0050793	regulation of developmental process	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0045746	negative regulation of Notch signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072104	glomerular capillary formation	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa04371	Apelin signaling pathway
hsa05224	Breast cancer
hsa04919	Thyroid hormone signaling pathway
hsa04658	Th1 and Th2 cell differentiation
hsa01522	Endocrine resistance
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Infantile myofibromatosis	KEGG:H01910
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy	KEGG:H00536
Lateral meningocele syndrome	KEGG:H01893
Infantile myofibromatosis	KEGG:H01910
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy	KEGG:H00536
Lateral meningocele syndrome	KEGG:H01893
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq