Protein: Q96L73 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
Q96L73 (Uniprot)	NSD1_HUMAN	NSD1	Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific	human	No

Protein Function

Uniprot: 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.

MoonDB Dissimilar Functions

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GO ID 1	Function 1	Module ID 1	GO ID 2	Function 2	Module ID 2	Association Probability (PrOnto)	Interaction Probability (PrOnto)
GO:0007165	signal transduction	169	GO:0034641	cellular nitrogen compound metabolic process	789	4.22e-144	6.90e-18

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MoonDB Network Modules

Biological Processes

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Module ID (MoonGO)	GO ID (BP)	GO Name
64	GO:0016070	RNA metabolic process
64	GO:0010467	gene expression
64	GO:0060255	regulation of macromolecule metabolic process
169	GO:0030522	intracellular receptor signaling pathway
169	GO:0045892	negative regulation of transcription, DNA-templated
169	GO:0045944	positive regulation of transcription from RNA polymerase II promoter
169	GO:0043401	steroid hormone mediated signaling pathway
731	GO:0044267	cellular protein metabolic process
731	GO:2000113	negative regulation of cellular macromolecule biosynthetic process
731	GO:0010629	negative regulation of gene expression

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Cellular Components

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Module ID (MoonGO)	GO ID (CC)	GO Name
64	GO:0005634	nucleus
169	GO:0005654	nucleoplasm
731	GO:0005654	nucleoplasm
789	GO:0005654	nucleoplasm

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Protein GO Annotations

Biological Processes

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GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS
GO:0000414	regulation of histone H3-K36 methylation	IMP
GO:0006351	transcription, DNA-templated	IEA
GO:0010452	histone H3-K36 methylation	IEA
GO:0016571	histone methylation	ISS
GO:0033135	regulation of peptidyl-serine phosphorylation	IMP
GO:0034770	histone H4-K20 methylation	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:1903025	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IMP

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Cellular Components

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005654	nucleoplasm	TAS
GO:0005694	chromosome	IEA

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
AGR2_HUMAN	No
ANDR_HUMAN	Yes: P10275 (MoonDB)
CC125_HUMAN	No
COT1_HUMAN	No
COT2_HUMAN	No
CRTP1_HUMAN	No
ERR1_HUMAN	No
ESR1_HUMAN	Yes: P03372 (MoonDB)
H4_HUMAN	No
HNF4G_HUMAN	No

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Publications Associated

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PMID	Article Title
11493482	A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.
11509567	Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.
11733144	Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.
11896389	Haploinsufficiency of NSD1 causes Sotos syndrome.
12464997	NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
12807965	Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
14997421	Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
15382262	Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts.
17487921	Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.
18669648	A quantitative atlas of mitotic phosphorylation.

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OMIM Diseases Associated

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OMIM ID	Disease Name
117550	Sotos syndrome 1
130650	Beckwith-Wiedemann syndrome

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Protein Domains Associated

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Domain Name	Domain ID	Source
AWS	PS51215	PROSITE
AWS	SM00570	SMART
AWS_dom	IPR006560	InterPro
PHD	SM00249	SMART
Post-SET_dom	IPR003616	InterPro
POST_SET	PS50868	PROSITE
PostSET	SM00508	SMART
PWWP	PF00855	Pfam
PWWP	PS50812	PROSITE
PWWP	SM00293	SMART

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