NSD1

Name	nuclear receptor binding SET domain protein 1
Structure
Novel Interactors	5 novel interactors: NPR3 PRKCD RING1 RTN4 SNRPF
Interactors	37 interactors: AGR2 AR ATRX CCDC125 CYSRT1 ESR1 ESRRA H1-2 H1-3 H1-5 H3-4 H3C1 H4C1 H4C16 HNF4G KRTAP6-2 MDFI NR2E1 NR2F1 NR2F2 NR2F6 NR5A2 NR6A1 NTRK3 POLR2A PPARG RARA RORA RORB RXRA SNORD3A THRA THRB TNFRSF21 USP7 VDR ZNF496
GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Chromosome
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Binding Transcription Coregulator Activity Transcription Corepressor Activity Protein Binding Methyltransferase Activity Zinc Ion Binding Transferase Activity Nuclear Receptor Binding Nuclear Estrogen Receptor Binding Histone Methyltransferase Activity Histone H4K20 Methyltransferase Activity Nuclear Retinoic Acid Receptor Binding Metal Ion Binding Nuclear Retinoid X Receptor Binding Nuclear Thyroid Hormone Receptor Binding Histone H3K36 Methyltransferase Activity Nuclear Androgen Receptor Binding Histone H3 Methyltransferase Activity Histone H3K36 Dimethyltransferase Activity
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Chromatin Organization Chromatin Remodeling Regulation Of DNA-templated Transcription Methylation Regulation Of Peptidyl-serine Phosphorylation Positive Regulation Of DNA-templated Transcription Regulation Of RNA Polymerase II Regulatory Region Sequence-specific DNA Binding
Pathways	PKMTs methylate histone lysines
Diseases	Sotos syndrome and Weaver syndrome Beckwith-Wiedemann syndrome
GWAS	Activated partial thromboplastin time ( 22703881 ) Body fat distribution (arm fat ratio) ( 30664634 ) Body fat distribution (trunk fat ratio) ( 30664634 ) Circulating fibroblast growth factor 23 levels ( 30217807 ) Height ( 25282103 31562340 ) Hip circumference adjusted for BMI ( 34021172 ) Hip index ( 34021172 ) Lymphocyte count ( 32888494 ) Narrowest width of the femoral neck ( 30888730 ) Neutrophil count ( 32888494 ) Nonsyndromic cleft lip ( 31609978 ) Urate levels ( 31578528 ) Urate levels in lean individuals ( 25811787 ) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500 ) Waist circumference adjusted for BMI in active individuals ( 28448500 ) Waist circumference adjusted for body mass index ( 28448500 34021172 ) Waist-hip index ( 34021172 ) Waist-to-hip ratio adjusted for BMI ( 26426971 34021172 ) Waist-to-hip ratio adjusted for BMI (age <50) ( 26426971 ) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971 )
Entrez ID	64324
HPRD ID	09455
Ensembl ID	ENSG00000165671
Uniprot IDs	A0A8I5QJP2 Q96L73 Q96MN8
PDB IDs	3OOI 6KQP 6KQQ 8C5L
GO Terms Enriched among Interactors ?	Nuclear Receptor Activity Intracellular Receptor Signaling Pathway Sequence-specific DNA Binding DNA Binding DNA-binding Transcription Factor Activity Hormone-mediated Signaling Pathway Nuclear Receptor-mediated Signaling Pathway RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Negative Regulation Of DNA-templated Transcription Negative Regulation Of Transcription By RNA Polymerase II Negative Regulation Of RNA Biosynthetic Process Zinc Ion Binding Regulation Of Gene Expression Nuclear Steroid Receptor Activity Negative Regulation Of RNA Metabolic Process Regulation Of Macromolecule Biosynthetic Process Retinoic Acid Receptor Signaling Pathway MRNA Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of RNA Metabolic Process Regulation Of RNA Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process MRNA Transcription Intracellular Signal Transduction Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Biosynthetic Process Positive Regulation Of Transcription By RNA Polymerase II DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Negative Regulation Of Metabolic Process Nucleosome Assembly Nucleoplasm Negative Regulation Of Macromolecule Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Protein-DNA Complex Assembly Positive Regulation Of Biosynthetic Process Nucleosome Organization Regulation Of Metabolic Process Structural Constituent Of Chromatin Transcription By RNA Polymerase II Chromatin DNA Binding Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Sequence-specific Double-stranded DNA Binding Estrogen Response Element Binding Positive Regulation Of RNA Metabolic Process