Version 5.4
Homo sapiens Gene: NSD1
Summary
InnateDB Gene IDBG-59534.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSD1
Gene Name nuclear receptor binding SET domain protein 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000165671
Encoded Proteins
IDBP-17576
nuclear receptor binding SET domain protein 1
IDBP-59540
nuclear receptor binding SET domain protein 1
IDBP-76841
nuclear receptor binding SET domain protein 1
IDBP-381971
nuclear receptor binding SET domain protein 1
IDBP-473795
nuclear receptor binding SET domain protein 1
IDBP-474541
nuclear receptor binding SET domain protein 1
IDBP-477717
nuclear receptor binding SET domain protein 1
IDBP-479296
nuclear receptor binding SET domain protein 1
IDBP-475979
nuclear receptor binding SET domain protein 1
IDBP-479417
nuclear receptor binding SET domain protein 1
IDBP-473659
nuclear receptor binding SET domain protein 1
IDBP-482234
nuclear receptor binding SET domain protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:177133025-177300215
Strand Forward strand
Band q35.3
Transcripts
ENST00000354179 ENSP00000346111
ENST00000347982 ENSP00000343209
ENST00000375350 ENSP00000364499
ENST00000439151 ENSP00000395929
ENST00000512992
ENST00000510954 ENSP00000423982
ENST00000508896 ENSP00000423372
ENST00000511258 ENSP00000426428
ENST00000508029 ENSP00000425120
ENST00000503056 ENSP00000424024
ENST00000504457 ENSP00000422996
ENST00000505395 ENSP00000424096
ENST00000515735 ENSP00000423048
ENST00000513736
ENST00000602285
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003712 transcription cofactor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0018024 histone-lysine N-methyltransferase activity
GO:0030331 estrogen receptor binding
GO:0042054 histone methyltransferase activity
GO:0042799 histone methyltransferase activity (H4-K20 specific)
GO:0042974 retinoic acid receptor binding
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
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001702 gastrulation with mouth forming second
GO:0006351 transcription, DNA-templated
GO:0010452 histone H3-K36 methylation
GO:0016571 histone methylation
GO:0034770 histone H4-K20 methylation
GO:0045893 positive regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
GO:0005694 chromosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021488
View Gene Order
ENSBTAG00000025426
Not yet available
Pathways
NETPATH
NetPath_2
AndrogenReceptor pathway
REACTOME
KEGG
hsa00310
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL D6RBV9
UniProt Splice Variant
Entrez Gene 64324
UniGene Hs.106861
RefSeq NM_022455 NM_172349 XM_005265959 XM_005265960 XM_005265961 XM_005265962 XM_006714901 XM_006714902 XM_006714903 XM_006714904
HUGO HGNC:14234
OMIM 606681
CCDS CCDS4412 CCDS4413
HPRD 09455
IMGT
EMBL AC008570 AC027314 AC146507
GenPept
RNA Seq Atlas 64324

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca