NSD1

NSD1

Symbol	NSD1
HGNC ID	7999
Alternative symbols	–
Entrez Gene	64324
OMIM	606681
RefSeq	NM_022455
UniProt	Q96L73
Chromosome	5q35
Locus supplementary data	–

NSD1 (Nuclear receptor-binding SET domain protein 1) is a gene that encodes a histone methyltransferase involved in the regulation of chromatin structure and gene expression. NSD1 is located on chromosome 5 at the 5q35 region.

Function

NSD1 is a member of the SET domain-containing family of proteins, which are known to play a role in epigenetic regulation. The protein encoded by NSD1 is involved in the methylation of histone H3 at lysine 36 (H3K36), a modification associated with active transcription.

Clinical significance

Mutations in the NSD1 gene are associated with Sotos syndrome, a disorder characterized by overgrowth, advanced bone age, and distinctive facial features. NSD1 mutations can also be involved in other developmental disorders and have been implicated in certain types of cancer.

Sotos syndrome

Sotos syndrome, also known as cerebral gigantism, is an autosomal dominant condition. It is characterized by excessive physical growth during the first years of life, macrocephaly, and learning disabilities.

Cancer

Alterations in NSD1 have been observed in various cancers, including acute myeloid leukemia (AML) and neuroblastoma. NSD1 can act as an oncogene or a tumor suppressor gene depending on the context.

Interactions

NSD1 interacts with several other proteins and factors involved in transcriptional regulation, including nuclear receptors and other chromatin-modifying enzymes.

See also

• Histone methylation
• Epigenetics
• Chromatin remodeling

External links

• NSD1 gene - NCBI
• NSD1 - Genetics Home Reference