Property Summary

NCBI Gene PubMed Count 65
Grant Count 21
R01 Count 12
Funding $1,339,688.56
PubMed Score 133.94
PubTator Score 167.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Rheumatoid Arthritis 1.300 0.014
osteosarcoma 1.170 0.004
atypical teratoid / rhabdoid tumor 1.100 0.000
Alzheimer's disease 1.100 0.044
Pick disease 1.500 0.000
progressive supranuclear palsy 1.400 0.006
ovarian cancer -1.900 0.000

 GO Component (2)

Gene RIF (54)

PMID Text
26690673 The genome-wide impact of a highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome is described.
26613968 NSD1 mutation is associated with severe connective tissue laxity including aortic dilatation in Sotos syndrome.
26487424 NSD1 mutation is associated with Hyperinsulinemic hypoglycemia.
25942451 Studies indicate that the NSD methyltransferases NSD1, NSD2/WHSC1/MMSET and NSD3/WHSC1L1 were overexpressed, amplified or somatically mutated in multiple types of cancer, suggesting their critical role in cancer.
25494638 The results describe the binding of NSD1, 2 and 3 catalytic domains CD) on histone tails through recognition of histone-lysine and methylation properties.
25193115 NSD1 interacted with RNAPII and bound to GSTM3 -63A/C TATA box.
24951466 Acute myeloid leukemia can be reproduced in mice by transducing mouse mesenchymal stem cells with the human NUP98-NSD1 fusion and the FLT3-ITD mutated constracts.
24795065 This report describes, for the first time, a Korean family with two generations of Stotos syndrome resulting from a novel intragenic NSD1 mutation.
24412544 NSD1 prefers aromatic, hydrophobic, and basic residues at the -2, -1 and +2, and +1 sites of its substrate peptide in histone H3.
24019522 all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not affected by ubH2A.
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AA Sequence

MDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTVSGTSQNAYGQDSPSCYI      1 - 70
PLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQTPIVCTSLSPGGPTALAMKQEPSCNNSPELQV     71 - 140
KVTKTIKNGFLHFENFTCVDDADVDSEMDPEQPVTEDESIEEIFEETQTNATCNYETKSENGVKVAMGSE    141 - 210
QDSTPESRHGAVKSPFLPLAPQTETQKNKQRNEVDGSNEKAALLPAPFSLGDTNITIEEQLNSINLSFQD    211 - 280
DPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSTPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTH    281 - 350
SKMKVSNRRPYRQYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRRRGKQKEKGYRHKVPQKILSK    351 - 420
WEASVGLAEQYDVPKGSKNRKCIPGSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLAFDSEHSADEK    421 - 490
EKPCAKSRARKSSDNPKRTSVKKGHIQFEAHKDERRGKIPENLGLNFISGDISDTQASNELSRIANSLTG    491 - 560
SNTAPGSFLFSSCGKNTAKKEFETSNGDSLLGLPEGALISKCSREKNKPQRSLVCGSKVKLCYIGAGDEE    561 - 630
KRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEIPDAFDRTENMLSMQKNEKIKYSRFAATNTRVKAKQ    631 - 700
KPLISNSHTDHLMGCTKSAEPGTETSQVNLSDLKASTLVHKPQSDFTNDALSPKFNLSSSISSENSLIKG    701 - 770
GAANQALLHSKSKQPKFRSIKCKHKENPVMAEPPVINEECSLKCCSSDTKGSPLASISKSGKVDGLKLLN    771 - 840
NMHEKTRDSSDIETAVVKHVLSELKELSYRSLGEDVSDSGTSKPSKPLLFSSASSQNHIPIEPDYKFSTL    841 - 910
LMMLKDMHDSKTKEQRLMTAQNLVSYRSPGRGDCSTNSPVGVSKVLVSGGSTHNSEKKGDGTQNSANPSP    911 - 980
SGGDSALSGELSASLPGLLSDKRDLPASGKSRSDCVTRRNCGRSKPSSKLRDAFSAQMVKNTVNRKALKT    981 - 1050
ERKRKLNQLPSVTLDAVLQGDRERGGSLRGGAEDPSKEDPLQIMGHLTSEDGDHFSDVHFDSKVKQSDPG   1051 - 1120
KISEKGLSFENGKGPELDSVMNSENDELNGVNQVVPKKRWQRLNQRRTKPRKRMNRFKEKENSECAFRVL   1121 - 1190
LPSDPVQEGRDEFPEHRTPSASILEEPLTEQNHADCLDSAGPRLNVCDKSSASIGDMEKEPGIPSLTPQA   1191 - 1260
ELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQVHKVSSRCEEESLLARGRSSAQNKQV   1261 - 1330
DENSLISTKEEPPVLEREAPFLEGPLAQSELGGGHAELPQLTLSVPVAPEVSPRPALESEELLVKTPGNY   1331 - 1400
ESKRQRKPTKKLLESNDLDPGFMPKKGDLGLSKKCYEAGHLENGITESCATSYSKDFGGGTTKIFDKPRK   1401 - 1470
RKRQRHAAAKMQCKKVKNDDSSKEIPGSEGELMPHRTATSPKETVEEGVEHDPGMPASKKMQGERGGGAA   1471 - 1540
LKENVCQNCEKLGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPL   1541 - 1610
CGKFYHEECVQKYPPTVMQNKGFRCSLHICITCHAANPANVSASKGRLMRCVRCPVAYHANDFCLAAGSK   1611 - 1680
ILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPEGNWYCNDCKA   1681 - 1750
GKKPHYREIVWVKVGRYRWWPAEICHPRAVPSNIDKMRHDVGEFPVLFFGSNDYLWTHQARVFPYMEGDV   1751 - 1820
SSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKVNRPIGRVQIFTADLS   1821 - 1890
EIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKT   1891 - 1960
DIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQ   1961 - 2030
KWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFK   2031 - 2100
KKQQGKRRTQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDICGKE   2101 - 2170
AASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPPVPLPPGPSTHLAEQS   2171 - 2240
TGMAAQAPKMSDKPPADTNQMLSLSKKALAGTCQRPLLPERPLERTDSRPQPLDKVRDLAGSGTKSQSLV   2241 - 2310
SSQRPLDRPPAVAGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGTADPRLDKSIGAASPRPQSLEKTSV   2311 - 2380
PTGLRLPPPDRLLITSSPKPQTSDRPTDKPHASLSQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKN   2381 - 2450
RAALVMDLIDLTPRQKERAASPHQVTPQADEKMPVLESSSWPASKGLGHMPRAVEKGCVSDPLQTSGKAA   2451 - 2520
APSEDPWQAVKSLTQARLLSQPPAKAFLYEPTTQASGRASAGAEQTPGPLSQSPGLVKQAKQMVGGQQLP   2521 - 2590
ALAAKSGQSFRSLGKAPASLPTEEKKLVTTEQSPWALGKASSRAGLWPIVAGQTLAQSCWSAGSTQTLAQ   2591 - 2660
TCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK                                     2661 - 2696
//

Text Mined References (72)

PMID Year Title
26690673 2015 NSD1 mutations generate a genome-wide DNA methylation signature.
26613968 2016 Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
26487424 2016 Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
25942451 2015 The NSD family of protein methyltransferases in human cancer.
25494638 2014 In vitro histone lysine methylation by NSD1, NSD2/MMSET/WHSC1 and NSD3/WHSC1L.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25193115 2014 Role of NSD1 in H2O2-induced GSTM3 suppression.
24951466 2014 Potent co-operation between the NUP98-NSD1 fusion and the FLT3-ITD mutation in acute myeloid leukemia induction.
24795065 2014 First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
24412544 2014 Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.
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