KEGG   Homo sapiens (human): 64324
Entry
64324             CDS       T01001                                 
Symbol
NSD1, ARA267, KMT3B, SOTOS, SOTOS1, STO
Name
(RefSeq) nuclear receptor binding SET domain protein 1
  KO
K15588  [histone H3]-lysine36 N-dimethyltransferase NSD1 [EC:2.1.1.357]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H00718  Sotos syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    64324 (NSD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    64324 (NSD1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.357  [histone H3]-lysine36 N-dimethyltransferase
     64324 (NSD1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     64324 (NSD1)
SSDB
Motif
Pfam: PWWP SET C5HCH AWS PHD PHD_2 MUM1-like_PWWP
Other DBs
NCBI-GeneID: 64324
NCBI-ProteinID: NP_071900
OMIM: 606681
HGNC: 14234
Ensembl: ENSG00000165671
UniProt: Q96L73
Structure
Position
5:177131798..177300213
AA seq 2696 aa
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   +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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (31)   
   KEGG ORTHOLOGY (1)   
   RefGene (23)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (56)   
   RefSeq(nuc) (12)   
   GenBank (22)   
   EMBL (22)   
3D Structure (3)   
   PDB (3)   
Protein domain (7)   
   Pfam (7)   
All databases (130)   

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