Gene

NSD1

Species
Homo sapiens
Symbol
NSD1
Name
nuclear receptor binding SET domain protein 1
Synonyms
  • androgen receptor coactivator 267 kDa protein
  • androgen receptor-associated coregulator 267
Biotype
protein coding gene
Automated Description
Enables several functions, including histone H3K36 methyltransferase activity; nuclear androgen receptor binding activity; and zinc ion binding activity. Involved in positive regulation of DNA-templated transcription. Acts upstream of or within regulation of peptidyl-serine phosphorylation. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in Sotos syndrome; Sotos syndrome 1; acute myeloid leukemia; microcephaly; and neuroblastoma.
RGD Description
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. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22884
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
177.14M177.16M177.18M177.20M177.22M177.24M177.26M177.28M177.30M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions