LP33287-1
NSD1 gene
Active
Description
The NSD1 gene (nuclear receptor binding SET domain protein 1) [HGNC Gene ID:14234] is located on chromosome 5q35. 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] [NCBI Gene ID:64324] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- NSD1 gene
- Part Display Name
- NSD1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-03-18
- Construct for LOINC Short Name
- NSD1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NSD1 基因 Synonyms: ARA267; |
| et-EE | Estonian (Estonia) | NSD1 geen |
| es-ES | Spanish (Spain) | Gen NSD1 |
| it-IT | Italian (Italy) | NSD1, gene Synonyms: Gene NSD1 |
| tr-TR | Turkish (Turkey) | NSD1 geni |
| ru-RU | Russian (Russian Federation) | NSD1 ген |
| nl-NL | Dutch (Netherlands) | NSD1-gen Synonyms: NSD1 gen |
LOINC Copyright
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