Entity Details

Primary name NSD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96L73
EntryNameNSD1_HUMAN
FullNameHistone-lysine N-methyltransferase, H3 lysine-36 specific
TaxID9606
Evidenceevidence at protein level
Length2696
SequenceStatuscomplete
DateCreated2003-07-03
DateModified2021-06-02

Ontological Relatives

GenesNSD1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000414 regulation of histone H3-K36 methylation
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0003682 chromatin binding
GO:0003712 transcription coregulator activity
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0008270 zinc ion binding
GO:0016571 histone methylation
GO:0030331 estrogen receptor binding
GO:0033135 regulation of peptidyl-serine phosphorylation
GO:0042799 histone methyltransferase activity (H4-K20 specific)
GO:0042974 retinoic acid receptor binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046965 retinoid X receptor binding
GO:0046966 thyroid hormone receptor binding
GO:0046975 histone methyltransferase activity (H3-K36 specific)
GO:0050681 androgen receptor binding
GO:1903025 regulation of RNA polymerase II regulatory region sequence-specific DNA binding

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR000313 PWWP domainDomainDomain
IPR001214 SET domainDomainDomain
IPR001965 Zinc finger, PHD-typeDomainDomain
IPR003616 Post-SET domainDomainDomain
IPR006560 AWS domainDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR019786 Zinc finger, PHD-type, conserved siteSiteConserved site
IPR019787 Zinc finger, PHD-fingerDomainDomain
IPR041306 NSD, Cys-His rich domainDomainDomain

Diseases

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Disease IDSourceNameDescription
117550 OMIMSotos syndrome 1 (SOTOS1)A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. The disease is caused by variants affecting the gene represented in this entry.
130650 OMIMBeckwith-Wiedemann syndrome (BWS)A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. The disease is caused by variants affecting the gene represented in this entry.

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
NSD1_HUMANMDFI_HUMANBioGRID, IntAct32296183 details
NSD1_HUMANCC125_HUMANBioGRID, IntAct32296183 details
NSD1_HUMANCRTP1_HUMANBioGRID, IntAct32296183 details
NSD1_HUMANAGR2_HUMANBioGRID, IntAct32296183 details
NSD1_HUMANKRA62_HUMANBioGRID, IntAct32296183 details
NSD1_HUMANH12_HUMANBioGRID, IntAct24412544 30021884 details
NSD1_HUMANESR1_HUMANBioGRID, HPRD, IntAct23975195 31527615 9628876 details
NSD1_HUMANZN496_HUMANBioGRID, HPRD15169884 details
NSD1_HUMANANDR_HUMANBioGRID, HPRD11266437 11509567 23975195 details
NSD1_HUMANH4_HUMANBioGRID21806967 24412544 25494638 30804502 details
NSD1_HUMANTNR21_HUMANBioGRID15623156 details
NSD1_HUMANRARA_HUMANBioGRID, HPRD23975195 9628876 details
NSD1_HUMANRXRA_HUMANBioGRID, HPRD23975195 9628876 details
NSD1_HUMANPPARG_HUMANBioGRID23975195 details
NSD1_HUMANVDR_HUMANBioGRID23975195 details
NSD1_HUMANTHB_HUMANBioGRID23975195 details
NSD1_HUMANRORA_HUMANBioGRID23975195 details
NSD1_HUMANHNF4G_HUMANBioGRID23975195 details
NSD1_HUMANNR2F6_HUMANBioGRID23975195 details
NSD1_HUMANERR1_HUMANBioGRID23975195 details
NSD1_HUMANNR5A2_HUMANBioGRID23975195 details
NSD1_HUMANNR6A1_HUMANBioGRID23975195 details
NSD1_HUMANCOT1_HUMANBioGRID23975195 details
NSD1_HUMANCOT2_HUMANBioGRID23975195 details
NSD1_HUMANNR2E1_HUMANBioGRID23975195 details
NSD1_HUMANH31T_HUMANBioGRID24412544 details
NSD1_HUMANH15_HUMANBioGRID24412544 details
NSD1_HUMANATRX_HUMANBioGRID24412544 details
NSD1_HUMANH13_HUMANBioGRID24412544 details
NSD1_HUMANH31_HUMANBioGRID25494638 26912663 34079125 details
NSD1_HUMANRPB1_HUMANBioGRID25193115 details
NSD1_HUMANNTRK3_HUMANBioGRID24034695 details
NSD1_HUMANTF65_HUMANBioGRID, DIP20080798 details
NSD1_HUMANAFF1_HUMANBioGRID21030982 details
NSD1_HUMANCUL4B_HUMANBioGRID24292684 details
NSD1_HUMANTHA_HUMANHPRD9628876 details