Human Gene KAT6B (ENST00000649006.1) Description and Page Index
Description: 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. (from UniProt Q8WYB5) RefSeq Summary (NM_001370141): 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]. Gencode Transcript: ENST00000649006.1 Gencode Gene: ENSG00000156650.14 Transcript (Including UTRs) Position: hg38 chr10:74,825,484-75,032,237 Size: 206,754 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr10:74,842,858-75,031,046 Size: 188,189 Coding Exon Count: 16
ID:KAT6B_HUMAN DESCRIPTION: RecName: Full=Histone acetyltransferase KAT6B; EC=220.127.116.11; AltName: Full=Histone acetyltransferase MOZ2; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; Short=MYST-4; AltName: Full=Monocytic leukemia zinc finger protein-related factor; 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. CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone]. SUBUNIT: Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1 and RUNX2. SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. DOMAIN: The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression. PTM: Autoacetylated. PTM: Autoacetylation at Lys-815 is required for proper function (By similarity). DISEASE: Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP. DISEASE: Defects in KAT6B are a cause of Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]. SBBYSS is a syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. DISEASE: Defects in KAT6B are a cause of genitopatellar syndrome (GTPTS) [MIM:606170]. GTPTS is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. SIMILARITY: Belongs to the MYST (SAS/MOZ) family. SIMILARITY: Contains 1 C2HC-type zinc finger. SIMILARITY: Contains 1 H15 (linker histone H1/H5 globular) domain. SIMILARITY: Contains 2 PHD-type zinc fingers. SEQUENCE CAUTION: Sequence=AAF00100.1; Type=Frameshift; Positions=550, 562; Sequence=AAH14143.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH48199.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYST4ID41488ch10q22.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WYB5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.