NSD1
Function
Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
Involvement in disease
Sotos syndrome
SOTOS
An autosomal dominant, childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, intellectual disability, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
None
The disease is caused by variants affecting the gene represented in this entry.
Beckwith-Wiedemann syndrome
BWS
A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily.
Tissue Specificity
Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
Cellular localization
- Nucleus
- Chromosome
Alternative names
ARA267, KMT3B, NSD1, Androgen receptor coactivator 267 kDa protein, Androgen receptor-associated protein of 267 kDa, H3-K36-HMTase, Lysine N-methyltransferase 3B, Nuclear receptor-binding SET domain-containing protein 1, NR-binding SET domain-containing protein