KEGG   Homo sapiens (human): 64324Help
Entry
64324             CDS       T01001                                 

Gene name
NSD1, ARA267, KMT3B, SOTOS, SOTOS1, STO
Definition
nuclear receptor binding SET domain protein 1 (EC:2.1.1.43)
Orthology
K15588  
histone-lysine N-methyltransferase NSD1 [EC:2.1.1.43]
Organism
hsa  Homo sapiens (human)
Pathway
Lysine degradation
Disease
H00713  
Beckwith-Wiedemann syndrome
H00718  
Sotos syndrome and Weaver syndrome
Class
Metabolism; Amino acid metabolism; Lysine degradation [PATH:hsa00310]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
5q35
AA seq 2696 aa AA seqDB search
MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNA
YGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGG
PTALAMKQEPSCNNSPELQVKVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESI
EEIFEETQTNATCNYETKSENGVKVAMGSEQDSTPESRHGAVKSPFLPLAPQTETQKNKQ
RNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSS
SSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVSNRRP
YRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSK
WEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLA
FDSEHSADEKEKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISG
DISDTQASNELSRIANSLTGSNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALIS
KCSREKNKPQRSLVCGSKVKLCYIGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDN
SVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQKPLISNSHTDHLMGCTKSAE
PGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKGGAANQALLHS
KSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLN
NMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIP
IEPDYKFSTLLMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGG
STHNSEKKGDGTQNSANPSPSGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRN
CGRSKPSSKLRDAFSAQMVKNTVNRKALKTERKRKLNQLPSVTLDAVLQGDRERGGSLRG
GAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSV
MNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVLLPSDPVQEGR
DEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQA
ELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLAR
GRSSAQNKQVDENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPE
VSPRPALESEELLVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGH
LENGITESCATSYSKDFGGGTTKIFDKPRKRKRQRHAAAKMQCKKVKNDDSSKEIPGSEG
ELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAALKENVCQNCEKLGELLLCEA
QCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEECV
QKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSK
ILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPE
GNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFG
SNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQED
RKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYEC
HPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEE
CRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRV
GLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFK
KKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECP
WHQCDICGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIRE
YVPPPVPLPPGPSTHLAEQSTGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPE
RPLERTDSRPQPLDKVRDLAGSGTKSQSLVSSQRPLDRPPAVAGPRPQLSDKPSPVTSPS
SSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSVPTGLRLPPPDRLLITSSPKP
QTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLID
LTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAA
APSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQA
KQMVGGQQLPALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIV
AGQTLAQSCWSAGSTQTLAQTCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK
NT seq 8091 nt NT seq  +upstreamnt  +downstreamnt
atggatcagacctgtgaactacccagaagaaattgtctgctgcccttttccaatccagtg
aatttagatgcccctgaagacaaggacagccctttcggtaatggtcaatccaatttttct
gagccacttaatgggtgtactatgcagttatcgactgtcagtggaacatcccaaaatgct
tatggacaagattctccatcttgttacattccactgcggagactacaggatttggcctcc
atgatcaatgtagagtatttaaatgggtctgctgatggatcagaatcctttcaagaccct
gaaaaaagtgattcaagagctcagacgccaattgtttgcacttccttgagtcctggtggt
cctacagcacttgctatgaaacaggaaccctcttgtaataactcccctgaactccaggta
aaagtaacaaagactatcaagaatggctttctgcactttgagaattttacttgtgtggac
gatgcagatgtagattctgaaatggacccagaacagccagtcacagaggatgagagtata
gaggagatctttgaggaaactcagaccaatgccacctgcaattatgagactaaatcagag
aatggtgtaaaagtggccatgggaagtgaacaagacagcacaccagagagtagacacggt
gcagtcaaatcgccattcttgccattagctcctcagactgaaacacagaaaaataagcaa
agaaatgaagtggacggcagcaatgaaaaagcagcccttctcccagcccccttttcacta
ggagacacaaacattacaatagaagagcaattaaactcaataaatttatcttttcaggat
gatccagattccagtaccagtacattaggaaacatgctagaattacctggaacttcatca
tcatctacttcacaggaattgccattttgtcaacctaagaaaaagtctacgccactgaag
tatgaagttggagatctcatctgggcaaaattcaagagacgcccatggtggccctgcagg
atttgttctgatccgttgattaacacacattcaaaaatgaaagtttccaaccggaggccc
tatcggcagtactacgtggaggcttttggagatccttctgagagagcctgggtggctgga
aaagcaatcgtcatgtttgaaggcagacatcaattcgaagagctacctgtccttaggaga
agagggaaacagaaagaaaaaggatataggcataaggttcctcagaaaattttgagtaaa
tgggaagccagtgttggacttgcagaacagtatgatgttcccaaggggtcaaagaaccga
aaatgtattcctggttcaatcaagttggacagtgaagaagatatgccatttgaagactgc
acaaatgatcctgagtcagaacatgacctgttgcttaatggctgtttgaaatcactggct
tttgattctgaacattctgcagatgagaaggaaaagccttgcgctaaatctcgagccaga
aagagctctgataatccaaaaaggactagtgtgaaaaagggccacatacaatttgaagca
cataaagatgaacggaggggaaagattccagagaaccttggcctaaactttatctctggg
gatatatctgatacgcaggcctctaatgaactttccaggatagcaaatagcctcacaggg
tccaacactgccccaggaagttttctgttttcttcctgtggaaaaaacactgcaaagaaa
gaatttgagacttcaaatggtgactctttattgggcttgcctgagggtgctttgatctca
aagtgttctcgagagaagaataaaccccaacgaagcctggtgtgtggttcaaaagtgaag
ctctgctatattggagcaggtgatgaggaaaagcgaagtgattccattagtatctgtacc
acttctgatgatggaagcagtgacctggatcccatagaacacagctcagagtctgataac
agtgtccttgaaattccagatgctttcgatagaacagagaacatgttatctatgcagaaa
aatgaaaagataaagtattctaggtttgctgccacaaacactagggtaaaagcaaaacag
aagcctctcattagtaactcacatacagaccacttaatgggttgtactaagagtgcagag
cctggaaccgagacgtctcaggttaatctctctgatctgaaggcatctactcttgttcac
aaaccccagtcagattttacaaatgatgctctctctccaaaattcaacctgtcatcaagc
atatccagtgagaactcgttaataaagggtggggcagcaaatcaagctctattacattcg
aaaagcaaacagcccaagttccgaagtataaagtgcaaacacaaagaaaatccagttatg
gcagaacccccagttataaatgaggagtgcagtttgaaatgctgctcttctgataccaaa
ggctctcctttggccagcatttctaaaagtgggaaagtggatggtctaaaactactgaac
aatatgcatgagaaaaccagggattcaagtgacatagaaacagcagtggtgaaacatgtt
ttatccgagttgaaggaactctcttacagatccttaggtgaggatgtcagtgactctgga
acatcaaagccatcaaaaccattacttttctcttctgcttctagtcagaatcacatacct
attgaaccagactacaaattcagtacattgctaatgatgttgaaagatatgcatgatagt
aagacgaaggagcagcggttgatgactgctcaaaacctggtctcttaccggagtcctggt
cgtggggactgttctactaatagtcctgtaggagtctctaaggttttggtttcaggaggc
tccacacacaattcagagaaaaagggagatggcactcagaactccgccaatcctagccct
agtgggggtgactctgcattatctggcgagttgtctgcttccctacctggcttactgtcc
gacaagagagacctccctgcttctggtaaaagtcgttcagactgtgttactaggcgcaac
tgtggacgatcaaagccttcatccaaattgcgagatgctttttcagcccaaatggtaaag
aacacagtgaaccgtaaagccttaaagaccgagcgcaaaagaaaactgaatcagcttcca
agtgtgactcttgatgctgtactgcagggagaccgagaacgtggaggttcattgagaggt
ggggcagaagatcctagtaaagaggatccccttcagataatgggccacttaacaagtgaa
gatggtgaccatttttctgatgtgcatttcgatagcaaggttaagcaatctgatcctggt
aaaatttctgaaaaaggactctcttttgaaaacggaaaaggcccagagctggactctgta
atgaacagtgagaatgatgaactcaatggtgtaaatcaagtggtgcctaaaaagcggtgg
cagcgtttaaaccaaaggcgcactaaacctcgtaagcgcatgaacagatttaaagagaaa
gaaaactctgagtgtgcctttagggtcttacttcctagtgaccctgtgcaggaggggcgg
gatgagtttccagagcatagaactccttcagcaagcatacttgaggaaccactgacagag
caaaatcatgctgactgcttagattcagctgggccacggttaaatgtttgtgataaatcc
agtgccagcattggtgacatggaaaaggagccaggaattcccagtttgacaccacaggct
gagctccctgaaccagctgtgcggtcagagaagaaacgccttaggaagccaagcaagtgg
cttttggaatatacagaagaatatgatcagatatttgctcctaagaaaaaacaaaagaag
gtacaggagcaggtgcacaaggtaagttcccgctgtgaagaggaaagccttctagcccga
ggtcgatctagtgctcagaacaagcaggtggacgagaattctttgatttcaaccaaagaa
gagcctccagttcttgaaagggaggctccgtttttggagggccccttggctcagtcagaa
cttggaggtggacatgctgagttgccgcagctgaccttgtctgtgcctgtggctccggaa
gtctctccacggcctgcccttgagtctgaggaattgctagttaaaacgccaggaaattat
gaaagtaaacgtcaaagaaaaccaactaagaaacttcttgaatccaatgatttagaccct
ggatttatgcccaagaagggggaccttggcctttctaaaaagtgctatgaagctggtcac
ctggagaatggcataactgaatcttgtgccacatcttattcaaaagattttggtggaggc
actaccaagatatttgacaagccaaggaagcgaaaacgacagaggcatgctgcagccaag
atgcagtgtaaaaaagtgaaaaatgatgactcgtcaaaagagattccaggctcagaggga
gaactaatgcctcacaggacggccacaagccccaaggagactgttgaggaaggtgtagaa
cacgatcccgggatgcctgcctctaaaaaaatgcagggtgaacgcggtggaggagctgca
ctcaaggagaatgtctgtcagaattgtgaaaaattgggtgagctgctgttatgtgaggct
cagtgctgtggggctttccacctggagtgccttggattgactgagatgccaagaggaaaa
tttatctgcaatgaatgtcgcacaggaatccatacctgttttgtatgtaagcagagtggg
gaagatgttaaaaggtgccttctacccttgtgtggaaagttttaccatgaagagtgtgtc
cagaagtacccacccactgttatgcagaacaagggcttccggtgctccctccacatctgt
ataacctgtcatgctgctaatccagccaatgtttctgcatctaaaggtcggttgatgcgc
tgtgtccgctgtcctgtggcataccacgccaatgacttttgcctggctgctgggtcaaag
atccttgcatctaatagtatcatctgccctaatcactttacccctaggcggggctgccga
aatcatgagcatgttaatgttagctggtgctttgtgtgctcagaaggaggcagccttctg
tgctgtgattcttgccctgctgcttttcatcgtgaatgcctgaacattgatatccctgaa
ggaaactggtattgcaatgactgtaaagcaggcaaaaagccacactacagggagattgtc
tgggtaaaagttggacgatacaggtggtggccagctgagatctgccatcctcgagctgtt
ccttccaacattgataagatgagacatgatgtgggagagttcccagtcctcttttttgga
tctaatgactatttgtggactcaccaggcccgagtcttcccttacatggagggtgacgtg
agcagcaaggataagatgggcaaaggagtggatgggacatataaaaaagctcttcaggaa
gctgcagcaaggtttgaggaattaaaggcccaaaaagagctaagacagctgcaggaagac
cgaaagaatgacaagaagccaccaccttataaacatataaaggtaaaccgtcctattggc
agggtacagatcttcactgcagacttatctgaaataccccgttgcaactgtaaagctact
gatgagaacccctgtgggatagactctgaatgcatcaaccgcatgctgctctatgagtgc
caccccacagtgtgtcctgccggagggcgctgtcaaaaccagtgcttttccaagcgccaa
tatccagaggttgaaattttccgcacattacagcggggttggggtctacggacaaaaaca
gatattaaaaagggtgaatttgtgaatgagtatgtgggtgagcttatagatgaagaagaa
tgcagagctcgaattcgctatgctcaagaacatgatatcactaatttctatatgctcacc
ctagacaaagaccgaatcattgatgctggtcccaaaggaaactatgctcggttcatgaat
cattgctgccagcccaactgtgaaacacagaagtggtctgtgaatggagatacccgtgta
ggcctttttgcactaagtgacattaaagcaggcactgaacttaccttcaactacaaccta
gaatgtcttgggaatggaaagactgtttgcaaatgtggagccccgaactgcagtggcttc
ttgggtgtaaggccaaagaatcaacccattgccacggaagaaaagtcaaagaaattcaag
aagaagcaacagggaaagcgcaggacccagggtgaaatcacaaaggagcgagaagatgag
tgttttagttgtggggatgctggccagctcgtctcctgcaagaaaccaggctgcccaaaa
gtttaccacgcagactgtctcaatctgaccaagcgaccagcagggaaatgggaatgtccg
tggcatcagtgtgacatctgcgggaaggaagcagcctccttctgtgagatgtgccccagc
tccttttgtaagcagcatcgagaagggatgcttttcatttccaaactggatgggcgtctg
tcttgtactgagcatgacccctgtgggcccaatcctctggaacctggggagatccgtgag
tatgtgcctcccccagtaccgctgcctccagggccaagcactcacctggcagagcaatca
acaggaatggctgctcaggcacccaaaatgtcagataaacctcctgctgacaccaaccag
atgctgtcgctctccaaaaaagctctggcagggacttgtcagaggccattgctacctgaa
agacctcttgagagaactgactccaggccccagcctttagataaggtcagagacctcgct
gggtcagggaccaaatcccaatccttggtttccagccagaggccactggacaggccacca
gcagtggcaggaccaagaccccagctaagcgacaaaccctctccagtgaccagcccaagc
tcctcaccctcagtcaggtcccaaccactggaaagacctctggggacggctgacccaagg
ctggataaatccataggtgctgccagcccaaggccccagtcactggagaaaacctcagtt
cccactggcctgagacttccgccgccagacagactgctcattactagcagtcccaaaccc
cagacttcagacaggcctactgacaaaccccatgcctctttgtcccagagactcccacct
cctgagaaagtactatcagctgtggtccagacccttgtagctaaagaaaaagcactgagg
cctgtggaccagaatactcagtcaaaaaatagagctgctttggtgatggatctcatagac
ctaactcctcgccagaaggagcgggcagcttcacctcatcaggtcacaccacaggctgat
gagaagatgccagtgttggagtcaagttcatggcctgccagcaaaggtctggggcatatg
ccgagagctgttgagaaaggctgtgtgtcagatcctcttcagacatctgggaaagcagca
gccccttcagaggacccctggcaagctgttaaatcactcacccaggccagacttctttct
cagcctcctgccaaggcctttttatatgagccaacaactcaggcctcaggaagagcttct
gcaggggctgagcagaccccagggcctcttagccaatccccgggcctggtgaagcaggcg
aagcagatggtcggaggccagcaactacctgcacttgccgccaagagtgggcaatctttt
aggtctctcgggaaggccccagcctccctccccactgaagaaaagaagttggtaaccaca
gagcaaagtccctgggccctgggaaaagcctcatcacgggcagggctctggcccatagtg
gctggacagacactggcacagtcttgctggtctgctgggagcacacagacattggcacag
acttgctggtctcttggaagagggcaagaccccaaaccagagcaaaatacacttccagct
cttaaccaggctccttccagtcacaagtgtgcagaatcagaacagaagtag

DBGET integrated database retrieval system