KEGG T01001: 4851

Homo sapiens (human): 4851

Entry

4851 CDS T01001

Gene name

NOTCH1, TAN1, hN1

Definition

notch 1

Orthology

K02599

Notch

Organism

hsa Homo sapiens (human)

Pathway

hsa04320	Dorso-ventral axis formation
hsa04330	Notch signaling pathway
hsa05020	Prion diseases

Disease

H00002	Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
H00554	Bicuspid aortic valve

Class

Environmental Information Processing; Signal transduction; Notch signaling pathway [PATH:hsa04330]
Organismal Systems; Development; Dorso-ventral axis formation [PATH:hsa04320]
Human Diseases; Neurodegenerative diseases; Prion diseases [PATH:hsa05020]

SSDB

Motif

Pfam:

EGF Ank_2 EGF_CA Ank hEGF EGF_2 NOD DUF3454 Ank_5 NODP Ank_3 Ank_4 EGF_3

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2F8Y 2HE0 1YYH 3ETO 3L95 2VJ3 3I08 2F8X 3NBN 3V79 1TOZ 1PB5

Position

9q34.3

AA seq 2555 aa
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

NT seq 7668 nt +upstreamnt +downstreamnt
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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (25)   
   RefSeq(nuc) (1)   
   GenBank (12)   
   EMBL (12)   
3D Structure (12)   
   PDB (12)   
Protein domain (13)   
   Pfam (13)   
All databases (75)   

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