• Gene id: 4851

Gene Summary

• Gene Symbol: NOTCH1   Gene   UCSC   Ensembl
• Aliases: AOS5, AOVD1, TAN1, hN1
• Gene name: notch receptor 1
• Alternate names: neurogenic locus notch homolog protein 1, Notch homolog 1, translocation-associated, notch 1, translocation-associated notch protein TAN-1,
• Gene location: 9q34.3 (68085369: 68229258)     Exons: 12     NC_000016.10
• Gene summary(Entrez): 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 in
• OMIM: 190198

Protein Summary

• Protein general information: P46531  
  • Name: Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation associated notch protein TAN 1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]
  • Length: 2555  
  • Mass: 272505
  • Tissue specificity: In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.
• Sequence:

  MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDPNPCLSTPCKNAGTCH
  VVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLLTLTEYKCRCPPGWSGKSCQQADPCASNPCA
  NGGQCLPFEASYICHCPPSFHGPTCRQDVNECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPS
  PCQNGGTCRPTGDVTHECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
  LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCECPHGRTGLLCHLNDA
  CISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGANPCEHAGKCINTLGSFECQCLQGYTGPRCE
  IDVNECVSNPCQNDATCLDQIGEFQCICMPGYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLC
  QYDVDECASTPCKNGAKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
  ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKIDGYECACEPGYTGSMC
  NINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNECNSNPCVHGACRDSLNGYKCDCDPGWSGTNC
  DINNNECESNPCVNGGTCKDMTSGYVCTCREGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGAT
  CEVVLAPCAPSPCRNGGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
  GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANCTDCVDSYTCTCPAGF
  SGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQHDVNECDSQPCLHGGTCQDGCGSYRCTCPQG
  YTGPNCQNLVHWCDSSPCKNGGKCWQTHTQYRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDA
  GNTHHCRCQAGYTGSYCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
  LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFVGERCEGDVNECLSNP
  CDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGGTCAVASNTARGFICKCPAGFEGATCENDAR
  TCGSLRCLNGGTCISGPRSPTCLCLGPFTGPECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLC
  HILDYSFGGGAGRDIPPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
  SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLDCAEHVPERLAAGTLV
  VVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYYGREEELRKHPIKRAAEGWAAPDALLGQVKA
  SLLPGGSEGGRRRRELDPMDVRGSIVYLEIDNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSET
  VEPPPPAQLHFMYVAAAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
  SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAPTPPQGEVDADCMDVN
  VRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASLHNQTDRTGETALHLAARYSRSDAAKRLLEA
  SADANIQDNMGRTPLHAAVSADAQGVFQILIRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVD
  DLGKSALHWAAAVNNVDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
  AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRKPSSKGLACGSKEAKD
  LKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLPSPFQQSPSVPLNHLPGMPDTHLGIGHLNVA
  AKPEMAALGGGGRLAFETGPPRLSHLPVASGTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNP
  LRGSVAPGPLSTQAPSLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
  NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQESPALPTSLPSSLVPP
  VTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQWSSSSPHSNVSDWSEGVSSPPTSMQSQIARI
  PEAFK

• Structural information:
  • Protein Domains: (20..5-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (59..9-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (102..13-)
    (/note="EGF-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR024600  IPR001881   IPR013032  IPR000742  IPR000152  IPR018097  IPR009030  IPR008297  IPR035993  IPR022362  IPR000800  IPR010660  IPR011656  
  • Prosite: PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258
  • PDB: 1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA 5KZO 5L0R 5UB5 6IDF 6PY8
  • PDBsum: 1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA 5KZO 5L0R 5UB5 6IDF 6PY8
  • DIP: 29919
  • STRING: ENSP00000277541
• Other Databases: GeneCards:  NOTCH1  Malacards:  NOTCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0060354	negative regulation of cell adhesion molecule production	IMP	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0007507	heart development	IMP	biological process
GO:2001027	negative regulation of endothelial cell chemotaxis	IDA	biological process
GO:0090051	negative regulation of cell migration involved in sprouting angiogenesis	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IDA	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0035148	tube formation	IMP	biological process
GO:0005912	adherens junction	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016324	apical plasma membrane	ISS	cellular component
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:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	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: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: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: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:0000139	Golgi 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: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: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: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: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: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: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: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: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:0006367	transcription initiation from RNA polymerase II promoter	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:0045747	positive 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000974	negative regulation of pro-B cell differentiation	IEA	biological process
GO:1903849	positive regulation of aorta morphogenesis	IEA	biological process
GO:1902263	apoptotic process involved in embryonic digit morphogenesis	IEA	biological process
GO:0072602	interleukin-4 secretion	IEA	biological process
GO:0071944	cell periphery	IEA	cellular component
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IEA	biological process
GO:0060948	cardiac vascular smooth muscle cell development	IEA	biological process
GO:0060842	arterial endothelial cell differentiation	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0048845	venous blood vessel morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA	biological process
GO:0046533	negative regulation of photoreceptor cell differentiation	IEA	biological process
GO:0045955	negative regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0045618	positive regulation of keratinocyte differentiation	IEA	biological process
GO:0045607	regulation of inner ear auditory receptor cell differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0045070	positive regulation of viral genome replication	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0014807	regulation of somitogenesis	IEA	biological process
GO:0010832	negative regulation of myotube differentiation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007440	foregut morphogenesis	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0006959	humoral immune response	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005112	Notch binding	IEA	molecular function
GO:0004857	enzyme inhibitor activity	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003344	pericardium morphogenesis	IEA	biological process
GO:0003273	cell migration involved in endocardial cushion formation	IEA	biological process
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	IEA	biological process
GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis	IEA	biological process
GO:0003241	growth involved in heart morphogenesis	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003213	cardiac right atrium morphogenesis	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003207	cardiac chamber formation	IEA	biological process
GO:0003197	endocardial cushion development	IEA	biological process
GO:0003169	coronary vein morphogenesis	IEA	biological process
GO:0003160	endocardium morphogenesis	IEA	biological process
GO:0003157	endocardium development	IEA	biological process
GO:0002437	inflammatory response to antigenic stimulus	IEA	biological process
GO:0002040	sprouting angiogenesis	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0062043	positive regulation of cardiac epithelial to mesenchymal transition	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0021515	cell differentiation in spinal cord	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:1902339	positive regulation of apoptotic process involved in morphogenesis	IEA	biological process
GO:1901201	regulation of extracellular matrix assembly	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0072144	glomerular mesangial cell development	IEA	biological process
GO:0072044	collecting duct development	IEA	biological process
GO:0072017	distal tubule development	IEA	biological process
GO:0070986	left/right axis specification	IEA	biological process
GO:0070168	negative regulation of biomineral tissue development	IEA	biological process
GO:0061384	heart trabecula morphogenesis	IEA	biological process
GO:0061314	Notch signaling involved in heart development	IEA	biological process
GO:0060982	coronary artery morphogenesis	IEA	biological process
GO:0060979	vasculogenesis involved in coronary vascular morphogenesis	IEA	biological process
GO:0060956	endocardial cell differentiation	IEA	biological process
GO:0060843	venous endothelial cell differentiation	IEA	biological process
GO:0060768	regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0060740	prostate gland epithelium morphogenesis	IEA	biological process
GO:0060528	secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060411	cardiac septum morphogenesis	IEA	biological process
GO:0060253	negative regulation of glial cell proliferation	IEA	biological process
GO:0060038	cardiac muscle cell proliferation	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048711	positive regulation of astrocyte differentiation	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048103	somatic stem cell division	IEA	biological process
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045608	negative regulation of inner ear auditory receptor cell differentiation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0032495	response to muramyl dipeptide	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0014031	mesenchymal cell development	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009912	auditory receptor cell fate commitment	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007386	compartment pattern specification	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003332	negative regulation of extracellular matrix constituent secretion	IEA	biological process
GO:0003270	Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0003219	cardiac right ventricle formation	IEA	biological process
GO:0003214	cardiac left ventricle morphogenesis	IEA	biological process
GO:0003209	cardiac atrium morphogenesis	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0003184	pulmonary valve morphogenesis	IEA	biological process
GO:0003182	coronary sinus valve morphogenesis	IEA	biological process
GO:0003181	atrioventricular valve morphogenesis	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0003162	atrioventricular node development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0048708	astrocyte differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045687	positive regulation of glial cell differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0042246	tissue regeneration	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0031960	response to corticosteroid	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0003264	regulation of cardioblast proliferation	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IDA	biological process
GO:0001947	heart looping	ISS	biological process
GO:0003157	endocardium development	ISS	biological process
GO:0003160	endocardium morphogenesis	ISS	biological process
GO:0003169	coronary vein morphogenesis	ISS	biological process
GO:0003192	mitral valve formation	IMP	biological process
GO:0003207	cardiac chamber formation	ISS	biological process
GO:0003208	cardiac ventricle morphogenesis	ISS	biological process
GO:0003213	cardiac right atrium morphogenesis	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:0003241	growth involved in heart morphogenesis	ISS	biological process
GO:0003256	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	ISS	biological process
GO:0003273	cell migration involved in endocardial cushion formation	ISS	biological process
GO:0003344	pericardium morphogenesis	ISS	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	ISS	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0030279	negative regulation of ossification	ISS	biological process
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0055008	cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0060842	arterial endothelial cell differentiation	ISS	biological process
GO:0060948	cardiac vascular smooth muscle cell development	ISS	biological process
GO:0010812	negative regulation of cell-substrate adhesion	IDA	biological process
GO:0048873	homeostasis of number of cells within a tissue	ISS	biological process
GO:0062043	positive regulation of cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis	ISS	biological process
GO:0003252	negative regulation of cell proliferation involved in heart valve morphogenesis	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003181	atrioventricular valve morphogenesis	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	IMP	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003209	cardiac atrium morphogenesis	ISS	biological process
GO:0003214	cardiac left ventricle morphogenesis	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0001837	epithelial to mesenchymal transition	IMP	biological process
GO:0014031	mesenchymal cell development	ISS	biological process
GO:0030514	negative regulation of BMP signaling pathway	ISS	biological process
GO:0030514	negative regulation of BMP signaling pathway	ISS	biological process
GO:0045668	negative regulation of osteoblast differentiation	ISS	biological process
GO:0045668	negative regulation of osteoblast differentiation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060411	cardiac septum morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	IMP	biological process
GO:0060843	venous endothelial cell differentiation	ISS	biological process
GO:0060956	endocardial cell differentiation	ISS	biological process
GO:0060979	vasculogenesis involved in coronary vascular morphogenesis	ISS	biological process
GO:0060982	coronary artery morphogenesis	ISS	biological process
GO:0061314	Notch signaling involved in heart development	IMP	biological process
GO:0061314	Notch signaling involved in heart development	IMP	biological process
GO:0061384	heart trabecula morphogenesis	ISS	biological process
GO:1901201	regulation of extracellular matrix assembly	ISS	biological process
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003180	aortic valve morphogenesis	TAS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0003151	outflow tract morphogenesis	IMP	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0070168	negative regulation of biomineral tissue development	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	ISS	biological process
GO:0003332	negative regulation of extracellular matrix constituent secretion	ISS	biological process
GO:1902339	positive regulation of apoptotic process involved in morphogenesis	ISS	biological process
GO:1902339	positive regulation of apoptotic process involved in morphogenesis	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0045967	negative regulation of growth rate	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0002193	MAML1-RBP-Jkappa- ICN1 complex	IDA	cellular component
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	ISS	biological process
GO:0043086	negative regulation of catalytic activity	ISS	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0007219	Notch signaling pathway	IMP	biological process
GO:0048711	positive regulation of astrocyte differentiation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000974	negative regulation of pro-B cell differentiation	ISS	biological process
GO:2000737	negative regulation of stem cell differentiation	IMP	biological process
GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045662	negative regulation of myoblast differentiation	IMP	biological process
GO:0010832	negative regulation of myotube differentiation	ISS	biological process
GO:0007219	Notch signaling pathway	TAS	biological process
GO:0004857	enzyme inhibitor activity	ISS	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0097150	neuronal stem cell population maintenance	IEP	biological process
GO:0060253	negative regulation of glial cell proliferation	ISS	biological process
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0019899	enzyme binding	ISS	molecular function
GO:0006955	immune response	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05224	Breast cancer
hsa04919	Thyroid hormone signaling pathway
hsa04658	Th1 and Th2 cell differentiation
hsa01522	Endocrine resistance
hsa04330	Notch signaling pathway
hsa05020	Prion diseases

Diseases

Associated diseases	References
Breast cancer	KEGG:H00031
T-cell acute lymphoblastic leukemia	KEGG:H00002
Adams-Oliver syndrome	KEGG:H01413
Breast cancer	KEGG:H00031
T-cell acute lymphoblastic leukemia	KEGG:H00002
Adams-Oliver syndrome	KEGG:H01413
Bicuspid aortic valve	KEGG:H00554
Adult T-cell leukemia	PMID:16707600
Aortic valve disease 1	PMID:16025100
Endometrial cancer	PMID:11078798
cholangiocarcinoma	PMID:15887117
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq