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NSD1 nuclear receptor binding SET domain protein 1

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. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-06)

ClinGen Genome Curation Page
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated (2011-10-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q35.3
Sequence:
Chromosome: 5; NC_000005.10 (177133079..177300213)
Total number of exons:
25

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