Rabbit anti-Human NSD1 Polyclonal Antibody

Uniprot Id

Q96L73

Target Species

Human

Target Name

NSD1

Target Full Name

Histone-lysine N-methyltransferase, H3 lysine-36 specific

Target 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.

Target Involvement

Sotos syndrome 1 (SOTOS1); Beckwith-Wiedemann syndrome (BWS)

Target Subcellular Location

Nucleus. Chromosome.

Target Protein Families

Class V-like SAM-binding methyltransferase superfamily

Target Tissue Specificity

Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.

Target Synonyms

Androgen receptor coactivator 267 kDa protein; Androgen receptor-associated protein of 267 kDa; ARA267; H3 K36 HMTase; H3-K36-HMTase; H4 K20 HMTase; H4-K20-HMTase; Histone-lysine N-methyltransferase; H3 lysine-36 and H4 lysine-20 specific; KMT3B; Lysine N-methyltransferase 3B; NR binding SET domain containing protein; NR-binding SET domain-containing protein; Nsd1; NSD1_HUMAN; Nuclear receptor binding SET domain containing protein 1; Nuclear receptor binding SET domain protein 1; Nuclear receptor-binding SET domain-containing protein 1

Target Background

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.