Protein: Q96L73

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
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.
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
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
731 GO:0045934 negative regulation of nucleobase-containing compound metabolic process
731 GO:0010604 positive regulation of macromolecule metabolic process
731 GO:0006357 regulation of transcription from RNA polymerase II promoter
731 GO:0007165 signal transduction
789 GO:0044271 cellular nitrogen compound biosynthetic process
789 GO:0044267 cellular protein metabolic process
789 GO:0071310 cellular response to organic substance
789 GO:0031325 positive regulation of cellular metabolic process
789 GO:0010604 positive regulation of macromolecule metabolic process
789 GO:0051173 positive regulation of nitrogen compound metabolic process
789 GO:2000112 regulation of cellular macromolecule biosynthetic process
789 GO:0010468 regulation of gene expression
789 GO:0007165 signal transduction
Module ID (MoonGO) GO ID (CC) GO Name
64 GO:0005634 nucleus
169 GO:0005654 nucleoplasm
731 GO:0005654 nucleoplasm
789 GO:0005654 nucleoplasm
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
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005654 nucleoplasm TAS
GO:0005694 chromosome IEA
No pairs of PrOnto dissimilar CC GO terms found.
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.
18987736 DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
19369195 Large-scale proteomics analysis of the human kinome.
19413330 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
20068231 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
21196496 The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
21406692 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
23186163 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
25218447 Uncovering global SUMOylation signaling networks in a site-specific manner.
28112733 Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.
OMIM ID Disease Name
117550 Sotos syndrome 1
130650 Beckwith-Wiedemann syndrome
Domain Name Domain ID Source
PWWP_dom IPR000313 InterPro
SET_dom IPR001214 InterPro
Znf_PHD IPR001965 InterPro
Post-SET_dom IPR003616 InterPro
AWS_dom IPR006560 InterPro
Znf_FYVE_PHD IPR011011 InterPro
Znf_RING/FYVE/PHD IPR013083 InterPro
Zinc_finger_PHD-type_CS IPR019786 InterPro
Znf_PHD-finger IPR019787 InterPro
PWWP PF00855 Pfam
SET PF00856 Pfam
SSF57903 SSF57903 SUPFAM