DISEASES

Disease-gene associations mined from literature

Literature associating SETD1B and Kabuki syndrome

SETD1B [ENSP00000442924]

Histone-lysine N-methyltransferase SETD1B; Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys- 9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro; Belongs to the class V-like SAM-binding methyltransferase superfamily.

Synonyms:  SETD1B,  SETD1Bp,  hSETD1B,  Q9UPS6,  KIAA1076 ...

Linkouts:  STRING  Pharos  UniProt