InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nsd1

Summary

InnateDB Gene

IDBG-155072.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Nsd1

Gene Name

nuclear receptor-binding SET-domain protein 1

Synonyms

AI528500; KMT3B

Species

Mus musculus

Ensembl Gene

ENSMUSG00000021488

Encoded Proteins

IDBP-155074

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 13:55209782-55318325

Strand

Forward strand

Band

Transcripts

ENSMUST00000099490

ENSMUSP00000097089

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003712	transcription cofactor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0018024	histone-lysine N-methyltransferase activity
GO:0042054	histone methyltransferase activity
GO:0050681	androgen receptor binding

Biological Process

GO:0001702	gastrulation with mouth forming second
GO:0006355	regulation of transcription, DNA-templated
GO:0016571	histone methylation
GO:0034968	histone lysine methylation
GO:0045893	positive regulation of transcription, DNA-templated

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000165671

View Gene Order

ENSBTAG00000025426

Not yet available

Pathways

NETPATH

REACTOME

KEGG

mmu00310

Lysine degradation pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

NetPath_2

AndrogenReceptor pathway

REACTOME

KEGG

hsa00310

Lysine degradation pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

E9QAE4 Q3UL03 Q8VHQ8

UniProt Splice Variant

Entrez Gene

18193

UniGene

Mm.168965 Mm.410635

RefSeq

NM_008739 XM_006517134 XM_006517135 XM_006517136 XM_006517137 XM_006517138 XM_006517139 XM_006517140 XM_006517141 XM_006517142 XM_006517143 XM_006517144 XM_006517145 XM_006517146 XM_006517147 XM_006517148

OMIM

CCDS

CCDS36673

HPRD

IMGT

MGI ID

MGI:1276545

MGI Symbol

Nsd1

EMBL

AC160958 AF419220 AK145783

GenPept

AAL40940 BAE26648

RNA Seq Atlas

18193