KAT6B

The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Description

Lysine acetyltransferase 6B

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

10 (74824927 - 75032624)

Ensembl ID

ENSG00000156650  (ver. 103.38)

Orthologs

Mouse Kat6b: ENSMUSG00000021767

UniProt

Q8WYB5

neXtProt

NX_Q8WYB5

Human splice variants
Mouse splice variants

Protein structure