Bos taurus Gene: NSD1
Summary
InnateDB Gene IDBG-645175.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSD1
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000025426
Encoded Proteins
nuclear receptor binding SET domain protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000165671:
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 7:39982435-40123961
Strand Forward strand
Band
Transcripts
ENSBTAT00000034204 ENSBTAP00000034104
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0018024 histone-lysine N-methyltransferase activity
GO:0042054 histone methyltransferase activity
GO:0046872 metal ion binding
GO:0050681 androgen receptor binding
Biological Process
GO:0001702 gastrulation with mouth forming second
GO:0016571 histone methylation
GO:0032259 methylation
GO:0034968 histone lysine methylation
GO:0045893 positive regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
AndrogenReceptor pathway
REACTOME
KEGG
Lysine degradation pathway
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E1BM66
UniProt Splice Variant
Entrez Gene 540197
UniGene Bt.33266 Bt.91111
RefSeq XM_002689017 XM_005209162 XM_005209163 XM_005209164 XM_005209165 XM_005209166 XM_005209167
HUGO HGNC:14234
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02020048 DAAA02020049 DAAA02020050 DAAA02020051
GenPept
RNA Seq Atlas 100336707 540197