Hmdb loader
Identification
HMDB Protein ID HMDBP00410
Secondary Accession Numbers
  • 5647
Name Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
Synonyms
  1. Androgen receptor coactivator 267 kDa protein
  2. Androgen receptor-associated protein of 267 kDa
  3. H3-K36-HMTase
  4. H4-K20-HMTase
  5. Lysine N-methyltransferase 3B
  6. NR-binding SET domain-containing protein
  7. Nuclear receptor-binding SET domain-containing protein 1
Gene Name NSD1
Protein Type Unknown
Biological Properties
General Function Involved in histone-lysine N-methyltransferase activity
Specific Function Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
Pathways
  • Lysine degradation
Reactions
S-Adenosylmethionine + L-lysine-[histone] → S-Adenosylhomocysteine + N(6)-methyl-L-lysine-[histone] details
Protein lysine + S-Adenosylmethionine → Protein N6-methyl-L-lysine + S-Adenosylhomocysteine details
S-Adenosylmethionine + Protein N6-methyl-L-lysine → S-Adenosylhomocysteine + Protein N6,N6-dimethyl-L-lysine details
S-Adenosylmethionine + Protein N6,N6-dimethyl-L-lysine → S-Adenosylhomocysteine + Protein N6,N6,N6-trimethyl-L-lysine details
GO Classification
Biological Process
gastrulation with mouth forming second
positive regulation of transcription, DNA-dependent
negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-dependent
Cellular Component
chromosome
nucleus
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
zinc ion binding
transferase activity
protein binding
protein methyltransferase activity
protein-lysine n-methyltransferase activity
histone-lysine n-methyltransferase activity
transferase activity, transferring one-carbon groups
methyltransferase activity
Molecular Function
metal ion binding
thyroid hormone receptor binding
estrogen receptor binding
zinc ion binding
androgen receptor binding
chromatin binding
transcription corepressor activity
histone methyltransferase activity (H3-K36 specific)
histone methyltransferase activity (H4-K20 specific)
ligand-dependent nuclear receptor binding
retinoid X receptor binding
Cellular Location
  1. Nucleus
  2. Chromosome (Probable)
Gene Properties
Chromosome Location 5
Locus 5q35
SNPs NSD1
Gene Sequence
>8091 bp
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
Protein Properties
Number of Residues 2696
Molecular Weight 296649.335
Theoretical pI 8.036
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
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
GenBank ID Protein 19923586
UniProtKB/Swiss-Prot ID Q96L73
UniProtKB/Swiss-Prot Entry Name NSD1_HUMAN
PDB IDs
GenBank Gene ID NM_022455.4
GeneCard ID NSD1
GenAtlas ID NSD1
HGNC ID HGNC:14234
References
General References
  1. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  2. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. doi: 10.1074/mcp.M800588-MCP200. Epub 2009 Apr 15. [PubMed:19369195 ]
  3. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  4. Giorgianni F, Zhao Y, Desiderio DM, Beranova-Giorgianni S: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line. Electrophoresis. 2007 Jun;28(12):2027-34. [PubMed:17487921 ]
  5. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008 Nov 6;456(7218):66-72. doi: 10.1038/nature07485. [PubMed:18987736 ]
  6. Wang X, Yeh S, Wu G, Hsu CL, Wang L, Chiang T, Yang Y, Guo Y, Chang C: Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. J Biol Chem. 2001 Nov 2;276(44):40417-23. Epub 2001 Aug 16. [PubMed:11509567 ]
  7. Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene. 2001 Nov 28;279(2):197-204. [PubMed:11733144 ]
  8. Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS: A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood. 2001 Aug 15;98(4):1264-7. [PubMed:11493482 ]
  9. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002 Apr;30(4):365-6. Epub 2002 Mar 18. [PubMed:11896389 ]
  10. Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L: Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet. 2004 Apr;74(4):715-20. Epub 2004 Mar 1. [PubMed:14997421 ]
  11. La Starza R, Gorello P, Rosati R, Riezzo A, Veronese A, Ferrazzi E, Martelli MF, Negrini M, Mecucci C: Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts. Genes Chromosomes Cancer. 2004 Dec;41(4):395-9. [PubMed:15382262 ]
  12. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2. [PubMed:12464997 ]
  13. Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003 Jun;40(6):436-40. [PubMed:12807965 ]