NSD1

NSD1 (Nuclear receptor binding SET Domain Protein 1)^[5] is a transcription coregulator protein^[6] that encodes Histone Methyltransferase and is associated with Sotos syndrome^[7] and Weaver syndrome.^[8]

NSD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3OOI
Identifiers
Aliases	NSD1, ARA267, KMT3B, SOTOS, SOTOS1, STO, nuclear receptor binding SET domain protein 1
External IDs	OMIM: 606681; MGI: 1276545; HomoloGene: 32543; GeneCards: NSD1; OMA:NSD1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q35.3 Start 177,131,830 bp[1] End 177,300,213 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B1 Start 55,357,595 bp[2] End 55,466,138 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon ganglionic eminence monocyte sperm thymus corpus callosum stromal cell of endometrium cerebellar vermis islet of Langerhans Top expressed in ascending aorta aortic valve pineal gland supraoptic nucleus vas deferens yolk sac secondary oocyte ganglionic eminence cumulus cell lacrimal gland More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase activity transferase activity histone methyltransferase activity (H4-K20 specific) transcription corepressor activity chromatin binding transcription coregulator activity metal ion binding retinoid X receptor binding thyroid hormone receptor binding androgen receptor binding retinoic acid receptor binding estrogen receptor binding histone-lysine N-methyltransferase activity histone methyltransferase activity (H3-K36 specific) zinc ion binding protein binding RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component nucleoplasm chromosome nucleus chromatin Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated positive regulation of transcription, DNA-templated methylation regulation of peptidyl-serine phosphorylation regulation of histone H3-K36 methylation histone lysine methylation histone methylation regulation of RNA polymerase II regulatory region sequence-specific DNA binding histone H3-K36 methylation histone H4-K20 methylation chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64324 18193 Ensembl ENSG00000165671 ENSMUSG00000021488 UniProt Q96L73 O88491 RefSeq (mRNA) NM_022455 NM_172349 NM_001365684 NM_008739 RefSeq (protein) NP_071900 NP_758859 NP_001352613 n/a Location (UCSC) Chr 5: 177.13 – 177.3 Mb Chr 13: 55.36 – 55.47 Mb PubMed search [3] [4]
Wikidata
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