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NSD1 nuclear receptor binding SET domain protein 1

Gene ID: 64324, updated on 17-Jan-2022
Gene type: protein coding
Also known as: STO; KMT3B; SOTOS; ARA267; SOTOS1

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Sotos syndrome 1See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-27)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q35.3
Sequence:
Chromosome: 5; NC_000005.10 (177133015..177300213)
Total number of exons:
26

Links

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