Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4851

Name

NOTCH1

Synonym

TAN1|hN1;notch 1;NOTCH1;notch 1

Definition

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

Position

9q34.3

Gene Type

protein-coding

PAH Type

Description

PAH

Notch3 signaling promotes the development of pulmonary arterial hypertension.
More detail of all Mouse literatures about NOTCH1

Pathways and Diseases

Pathway

Notch signaling pathway;PANTHER;P00045

Pathway

Transport of Notch receptor precursor to golgi;PID Reactome;500111

Pathway

Mature Notch receptor trafficks to plasma membrane;PID Reactome;500113

Pathway

Signaling by Notch;PID Reactome;500110

Pathway

Prion diseases;KEGG PATHWAY;hsa05020

Pathway

Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor;PID Reactome;500115

Pathway

Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells;PID Reactome;500520

Pathway

A third proteolytic cleavage releases NICD;PID Reactome;500116

Pathway

Alzheimer disease-presenilin pathway;PANTHER;P00004

Pathway

Presenilin action in Notch and Wnt signaling;PID Curated;200052

Pathway

Notch signaling pathway;KEGG PATHWAY;hsa04330

Pathway

Notch-mediated HES/HEY network;PID Curated;200196

Pathway

NICD trafficks to nucleus;PID Reactome;500117

Pathway

Gene Expression;Reactome;REACT:71

Pathway

Signaling by Notch;Reactome;REACT:299

Pathway

Angiogenesis;PANTHER;P00005

Pathway

Notch signaling pathway;PID Curated;200013

Pathway

Maturation of Notch precursor via proteolytic cleavage;PID Reactome;500112

Pathway

Dorso-ventral axis formation;KEGG PATHWAY;hsa04320

Pathway

proteolysis and signaling pathway of notch;PID BioCarta;100091

Disease

Cancers;KEGG DISEASE

Disease

leukemia;GAD

Disease

Acute lymphoblastic leukemia (ALL) (Precursor T lymphoblastic leukemia);KEGG DISEASE;H00002

Disease

Leukemia, T-cell acute lymphoblastic;OMIM

Disease

Aortic valve disease;OMIM

Disease

Cancers of haematopoietic and lymphoid tissues;KEGG DISEASE

Disease

CANCER;GAD

External Links

Links to Entrez Gene

4851

Links to all GeneRIF Items

4851

Links to iHOP

4851

Sequence Information

Nucleotide Sequence

>4851 : length: 7668
atgccgccgctcctggcgcccctgctctgcctggcgctgctgcccgcgctcgccgcacga
ggcccgcgatgctcccagcccggtgagacctgcctgaatggcgggaagtgtgaagcggcc
aatggcacggaggcctgcgtctgtggcggggccttcgtgggcccgcgatgccaggacccc
aacccgtgcctcagcaccccctgcaagaacgccgggacatgccacgtggtggaccgcaga
ggcgtggcagactatgcctgcagctgtgccctgggcttctctgggcccctctgcctgaca
cccctggacaatgcctgcctcaccaacccctgccgcaacgggggcacctgcgacctgctc
acgctgacggagtacaagtgccgctgcccgcccggctggtcagggaaatcgtgccagcag
gctgacccgtgcgcctccaacccctgcgccaacggtggccagtgcctgcccttcgaggcc
tcctacatctgccactgcccacccagcttccatggccccacctgccggcaggatgtcaac
gagtgtggccagaagcccgggctttgccgccacggaggcacctgccacaacgaggtcggc
tcctaccgctgcgtctgccgcgccacccacactggccccaactgcgagcggccctacgtg
ccctgcagcccctcgccctgccagaacgggggcacctgccgccccacgggcgacgtcacc
cacgagtgtgcctgcctgccaggcttcaccggccagaactgtgaggaaaatatcgacgat
tgtccaggaaacaactgcaagaacgggggtgcctgtgtggacggcgtgaacacctacaac
tgccgctgcccgccagagtggacaggtcagtactgtaccgaggatgtggacgagtgccag
ctgatgccaaatgcctgccagaacggcgggacctgccacaacacccacggtggctacaac
tgcgtgtgtgtcaacggctggactggtgaggactgcagcgagaacattgatgactgtgcc
agcgccgcctgcttccacggcgccacctgccatgaccgtgtggcctccttctactgcgag
tgtccccatggccgcacaggtctgctgtgccacctcaacgacgcatgcatcagcaacccc
tgtaacgagggctccaactgcgacaccaaccctgtcaatggcaaggccatctgcacctgc
ccctcggggtacacgggcccggcctgcagccaggacgtggatgagtgctcgctgggtgcc
aacccctgcgagcatgcgggcaagtgcatcaacacgctgggctccttcgagtgccagtgt
ctgcagggctacacgggcccccgatgcgagatcgacgtcaacgagtgcgtctcgaacccg
tgccagaacgacgccacctgcctggaccagattggggagttccagtgcatctgcatgccc
ggctacgagggtgtgcactgcgaggtcaacacagacgagtgtgccagcagcccctgcctg
cacaatggccgctgcctggacaagatcaatgagttccagtgcgagtgccccacgggcttc
actgggcatctgtgccagtacgatgtggacgagtgtgccagcaccccctgcaagaatggt
gccaagtgcctggacggacccaacacttacacctgtgtgtgcacggaagggtacacgggg
acgcactgcgaggtggacatcgatgagtgcgaccccgacccctgccactacggctcctgc
aaggacggcgtcgccaccttcacctgcctctgccgcccaggctacacgggccaccactgc
gagaccaacatcaacgagtgctccagccagccctgccgccacgggggcacctgccaggac
cgcgacaacgcctacctctgcttctgcctgaaggggaccacaggacccaactgcgagatc
aacctggatgactgtgccagcagcccctgcgactcgggcacctgtctggacaagatcgat
ggctacgagtgtgcctgtgagccgggctacacagggagcatgtgtaacatcaacatcgat
gagtgtgcgggcaacccctgccacaacgggggcacctgcgaggacggcatcaatggcttc
acctgccgctgccccgagggctaccacgaccccacctgcctgtctgaggtcaatgagtgc
aacagcaacccctgcgtccacggggcctgccgggacagcctcaacgggtacaagtgcgac
tgtgaccctgggtggagtgggaccaactgtgacatcaacaacaatgagtgtgaatccaac
ccttgtgtcaacggcggcacctgcaaagacatgaccagtggctacgtgtgcacctgccgg
gagggcttcagcggtcccaactgccagaccaacatcaacgagtgtgcgtccaacccatgt
ctgaaccagggcacgtgtattgacgacgttgccgggtacaagtgcaactgcctgctgccc
tacacaggtgccacgtgtgaggtggtgctggccccgtgtgcccccagcccctgcagaaac
ggcggggagtgcaggcaatccgaggactatgagagcttctcctgtgtctgccccacgggc
tggcaagggcagacctgtgaggtcgacatcaacgagtgcgttctgagcccgtgccggcac
ggcgcatcctgccagaacacccacggcggctaccgctgccactgccaggccggctacagt
gggcgcaactgcgagaccgacatcgacgactgccggcccaacccgtgtcacaacgggggc
tcctgcacagacggcatcaacacggccttctgcgactgcctgcccggcttccggggcact
ttctgtgaggaggacatcaacgagtgtgccagtgacccctgccgcaacggggccaactgc
acggactgcgtggacagctacacgtgcacctgccccgcaggcttcagcgggatccactgt
gagaacaacacgcctgactgcacagagagctcctgcttcaacggtggcacctgcgtggac
ggcatcaactcgttcacctgcctgtgtccacccggcttcacgggcagctactgccagcac
gatgtcaatgagtgcgactcacagccctgcctgcatggcggcacctgtcaggacggctgc
ggctcctacaggtgcacctgcccccagggctacactggccccaactgccagaaccttgtg
cactggtgtgactcctcgccctgcaagaacggcggcaaatgctggcagacccacacccag
taccgctgcgagtgccccagcggctggaccggcctttactgcgacgtgcccagcgtgtcc
tgtgaggtggctgcgcagcgacaaggtgttgacgttgcccgcctgtgccagcatggaggg
ctctgtgtggacgcgggcaacacgcaccactgccgctgccaggcgggctacacaggcagc
tactgtgaggacctggtggacgagtgctcacccagcccctgccagaacggggccacctgc
acggactacctgggcggctactcctgcaagtgcgtggccggctaccacggggtgaactgc
tctgaggagatcgacgagtgcctctcccacccctgccagaacgggggcacctgcctcgac
ctccccaacacctacaagtgctcctgcccacggggcactcagggtgtgcactgtgagatc
aacgtggacgactgcaatccccccgttgaccccgtgtcccggagccccaagtgctttaac
aacggcacctgcgtggaccaggtgggcggctacagctgcacctgcccgccgggcttcgtg
ggtgagcgctgtgagggggatgtcaacgagtgcctgtccaatccctgcgacgcccgtggc
acccagaactgcgtgcagcgcgtcaatgacttccactgcgagtgccgtgctggtcacacc
gggcgccgctgcgagtccgtcatcaatggctgcaaaggcaagccctgcaagaatgggggc
acctgcgccgtggcctccaacaccgcccgcgggttcatctgcaagtgccctgcgggcttc
gagggcgccacgtgtgagaatgacgctcgtacctgcggcagcctgcgctgcctcaacggc
ggcacatgcatctccggcccgcgcagccccacctgcctgtgcctgggccccttcacgggc
cccgaatgccagttcccggccagcagcccctgcctgggcggcaacccctgctacaaccag
gggacctgtgagcccacatccgagagccccttctaccgttgcctgtgccccgccaaattc
aacgggctcttgtgccacatcctggactacagcttcgggggtggggccgggcgcgacatc
cccccgccgctgatcgaggaggcgtgcgagctgcccgagtgccaggaggacgcgggcaac
aaggtctgcagcctgcagtgcaacaaccacgcgtgcggctgggacggcggtgactgctcc
ctcaacttcaatgacccctggaagaactgcacgcagtctctgcagtgctggaagtacttc
agtgacggccactgtgacagccagtgcaactcagccggctgcctcttcgacggctttgac
tgccagcgtgcggaaggccagtgcaaccccctgtacgaccagtactgcaaggaccacttc
agcgacgggcactgcgaccagggctgcaacagcgcggagtgcgagtgggacgggctggac
tgtgcggagcatgtacccgagaggctggcggccggcacgctggtggtggtggtgctgatg
ccgccggagcagctgcgcaacagctccttccacttcctgcgggagctcagccgcgtgctg
cacaccaacgtggtcttcaagcgtgacgcacacggccagcagatgatcttcccctactac
ggccgcgaggaggagctgcgcaagcaccccatcaagcgtgccgccgagggctgggccgca
cctgacgccctgctgggccaggtgaaggcctcgctgctccctggtggcagcgagggtggg
cggcggcggagggagctggaccccatggacgtccgcggctccatcgtctacctggagatt
gacaaccggcagtgtgtgcaggcctcctcgcagtgcttccagagtgccaccgacgtggcc
gcattcctgggagcgctcgcctcgctgggcagcctcaacatcccctacaagatcgaggcc
gtgcagagtgagaccgtggagccgcccccgccggcgcagctgcacttcatgtacgtggcg
gcggccgcctttgtgcttctgttcttcgtgggctgcggggtgctgctgtcccgcaagcgc
cggcggcagcatggccagctctggttccctgagggcttcaaagtgtctgaggccagcaag
aagaagcggcgggagcccctcggcgaggactccgtgggcctcaagcccctgaagaacgct
tcagacggtgccctcatggacgacaaccagaatgagtggggggacgaggacctggagacc
aagaagttccggttcgaggagcccgtggttctgcctgacctggacgaccagacagaccac
cggcagtggactcagcagcacctggatgccgctgacctgcgcatgtctgccatggccccc
acaccgccccagggtgaggttgacgccgactgcatggacgtcaatgtccgcgggcctgat
ggcttcaccccgctcatgatcgcctcctgcagcgggggcggcctggagacgggcaacagc
gaggaagaggaggacgcgccggccgtcatctccgacttcatctaccagggcgccagcctg
cacaaccagacagaccgcacgggcgagaccgccttgcacctggccgcccgctactcacgc
tctgatgccgccaagcgcctgctggaggccagcgcagatgccaacatccaggacaacatg
ggccgcaccccgctgcatgcggctgtgtctgccgacgcacaaggtgtcttccagatcctg
atccggaaccgagccacagacctggatgcccgcatgcatgatggcacgacgccactgatc
ctggctgcccgcctggccgtggagggcatgctggaggacctcatcaactcacacgccgac
gtcaacgccgtagatgacctgggcaagtccgccctgcactgggccgccgccgtgaacaat
gtggatgccgcagttgtgctcctgaagaacggggctaacaaagatatgcagaacaacagg
gaggagacacccctgtttctggccgcccgggagggcagctacgagaccgccaaggtgctg
ctggaccactttgccaaccgggacatcacggatcatatggaccgcctgccgcgcgacatc
gcacaggagcgcatgcatcacgacatcgtgaggctgctggacgagtacaacctggtgcgc
agcccgcagctgcacggagccccgctggggggcacgcccaccctgtcgcccccgctctgc
tcgcccaacggctacctgggcagcctcaagcccggcgtgcagggcaagaaggtccgcaag
cccagcagcaaaggcctggcctgtggaagcaaggaggccaaggacctcaaggcacggagg
aagaagtcccaggacggcaagggctgcctgctggacagctccggcatgctctcgcccgtg
gactccctggagtcaccccatggctacctgtcagacgtggcctcgccgccactgctgccc
tccccgttccagcagtctccgtccgtgcccctcaaccacctgcctgggatgcccgacacc
cacctgggcatcgggcacctgaacgtggcggccaagcccgagatggcggcgctgggtggg
ggcggccggctggcctttgagactggcccacctcgtctctcccacctgcctgtggcctct
ggcaccagcaccgtcctgggctccagcagcggaggggccctgaatttcactgtgggcggg
tccaccagtttgaatggtcaatgcgagtggctgtcccggctgcagagcggcatggtgccg
aaccaatacaaccctctgcgggggagtgtggcaccaggccccctgagcacacaggccccc
tccctgcagcatggcatggtaggcccgctgcacagtagccttgctgccagcgccctgtcc
cagatgatgagctaccagggcctgcccagcacccggctggccacccagcctcacctggtg
cagacccagcaggtgcagccacaaaacttacagatgcagcagcagaacctgcagccagca
aacatccagcagcagcaaagcctgcagccgccaccaccaccaccacagccgcaccttggc
gtgagctcagcagccagcggccacctgggccggagcttcctgagtggagagccgagccag
gcagacgtgcagccactgggccccagcagcctggcggtgcacactattctgccccaggag
agccccgccctgcccacgtcgctgccatcctcgctggtcccacccgtgaccgcagcccag
ttcctgacgcccccctcgcagcacagctactcctcgcctgtggacaacacccccagccac
cagctacaggtgcctgagcaccccttcctcaccccgtcccctgagtcccctgaccagtgg
tccagctcgtccccgcattccaacgtctccgactggtccgagggcgtctccagccctccc
accagcatgcagtcccagatcgcccgcattccggaggccttcaagtaa

Protein Sequence

>4851 : length: 2555
MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDP
NPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLL
TLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVN
ECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVT
HECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCE
CPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGA
NPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMP
GYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYDVDECASTPCKNG
AKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKID
GYECACEPGYTGSMCNINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNEC
NSNPCVHGACRDSLNGYKCDCDPGWSGTNCDINNNECESNPCVNGGTCKDMTSGYVCTCR
EGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVVLAPCAPSPCRN
GGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANC
TDCVDSYTCTCPAGFSGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQH
DVNECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNLVHWCDSSPCKNGGKCWQTHTQ
YRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGS
YCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFV
GERCEGDVNECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGG
TCAVASNTARGFICKCPAGFEGATCENDARTCGSLRCLNGGTCISGPRSPTCLCLGPFTG
PECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDI
PPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLD
CAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYY
GREEELRKHPIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEI
DNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSETVEPPPPAQLHFMYVA
AAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAP
TPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASL
HNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQIL
IRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNN
VDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRK
PSSKGLACGSKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLP
SPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALGGGGRLAFETGPPRLSHLPVAS
GTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAP
SLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQE
SPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQW
SSSSPHSNVSDWSEGVSSPPTSMQSQIARIPEAFK



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