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nuclear receptor binding SET domain containing protein 1; histone-lysine N-methyltransferase, H3 Lys36 & H4 Lys20 specific; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET domain containing protein; androgen receptor-associated coregulator 267 (NSD1, ARA267)
Function:
1) histone N-methyltransferase
2) preferentially methylates Lys-36 of histone H3 & Lys-20 of histone H4 (in vitro)
3) negatively & positively influences transcription
4) interacts with RARA, THRA, RXRA, ESRRA, androgen receptor (ligand-binding domains)
Compartment: nucleus
Expression:
- expressed in fetal/adult brain, kidney, skeletal muscle, spleen, thymus, lung (minimal)
Pathology:
1) defects in NSD1 are the cause of Sotos syndrome
2) defects in NSD1 are the cause of Weaver syndrome
3) defects in NSD1 are a cause of Beckwith-Wiedemann syndrome
4) translocation t(5;11)(q35;p15.5) with NUP98 found in childhood acute myeloid leukemia
5) translocation t(5;11)(q35;p15.5) with NUP98 found in myelodysplastic syndrome, generating a NUP98-NSD1 fusion product
General
histone N-methyltransferase
nuclear protein
SET domain-containing protein
zinc finger protein
Properties
SIZE: MW = 297 kD
entity length = 2696 aa
COMPARTMENT: cell nucleus
MOTIF: PWWP 1 {323-388}
Zinc finger
NAME: Zinc finger
SITE: 1543-1589
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 1590-1646
EFFECTOR-BOUND: Zn+2
Zinc finger
NAME: Zinc finger
SITE: 1707-1751
EFFECTOR-BOUND: Zn+2
PWWP 2 {1756-1818}
AWS {1890-1940}
SET domain {1941-2063}
post-SET domain {2066-2082}
Zinc finger
NAME: Zinc finger
SITE: 2118-2165
EFFECTOR-BOUND: Zn+2
proline-rich region
SITE: 2207-2421
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 606681
UniProt Q96L73
PFAM correlations
Entrez Gene 64324
Kegg hsa:64324
ENZYME 2.1.1.43
References
UniProt :accession Q96L73