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 SLCterminal 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]
Function:
Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary.
Post-translational modifications:
Autoacetylated.
DISEASE:
Note=A chromosomal aberration involving MYST4 may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP.
Similarity:
Belongs to the MYST (SAS/MOZ) family.
Contains 1 C2HSLCtype zinc finger.
Contains 1 H15 (linker histone H1/H5 globular) domain.
Contains 2 PHD-type zinc fingers.
SWISS:
Q8WYB5
Gene ID:
23522
Database links:
Entrez Gene: 23522 Human
Omim: 605176 Human
SwissProt: Q8WYB5 Human
Unigene: 35758 Human
Unigene: 599543 Human
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