Tbio NSD1 Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Protein Summary

Description

Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. 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. [provided by RefSeq, Sep 2018]

Uniprot Accession IDs

• Q96L73
• Q96PD8
• Q96RN7

Gene Name

• NSD1

Ensembl ID

• ENST00000347982
• ENSP00000343209
• ENSG00000165671
• ENST00000354179
• ENSP00000346111
• ENST00000439151
• ENSP00000395929

Symbol

• ARA267
• KMT3B
• STO
• KMT3B
• SOTOS
• ARA267
• SOTOS1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
molecular function	0.98
virus perturbation	0.98
disease perturbation	0.96
transcription factor	0.87

Protein Classes

DTO Classes

Protein / Epigenetic Regulator / Writer / Protein Methyltransferase / Set Domain / Histone-lysine N-methyltransferase, H3 Lysine-36 And H4 Lysine-20 Specific

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 252.24   (req: < 5)

Gene RIFs: 90   (req: <= 3)

Antibodies: 161   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 252.24   (req: >= 5)

Gene RIFs: 90   (req: > 3)

Antibodies: 161   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0