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MGP004696

UniProt Annotations

Entry Information

Gene Name	K(lysine) acetyltransferase 6B
Protein Entry	KAT6B_HUMAN
UniProt ID	Q8WYB5
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Beta; IsoId=Q8WYB5-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q8WYB5-2; Sequence=VSP_014587; Name=3; IsoId=Q8WYB5-3; Sequence=VSP_014586;
Catalytic Activity	Acetyl-CoA + [histone] = CoA + acetyl- [histone]. {ECO:0000269\|PubMed:10497217}.
Disease	Genitopatellar syndrome (GTPTS) [MIM:606170]: 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. {ECO:0000269\|PubMed:22265014}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP.
Disease	Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]: 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. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. 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. {ECO:0000269\|PubMed:22077973}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression. {ECO:0000269\|PubMed:10497217}.
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. {ECO:0000269\|PubMed:10497217, ECO:0000269\|PubMed:11965546, ECO:0000269\|PubMed:16387653}.
Ptm	Autoacetylated (PubMed:10497217 and PubMed:11965546). Autoacetylation at Lys-815 is required for proper function. {ECO:0000250\|UniProtKB:Q9H7Z6, ECO:0000269\|PubMed:10497217, ECO:0000269\|PubMed:11965546}.
Sequence Caution	Sequence=AAF00100.1; Type=Frameshift; Positions=550, 562; Evidence={ECO:0000305}; Sequence=AAH14143.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH48199.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Similarity	Belongs to the MYST (SAS/MOZ) family. {ECO:0000305}.
Similarity	Contains 1 C2HC-type zinc finger. {ECO:0000305}.
Similarity	Contains 1 H15 (linker histone H1/H5 globular) domain. {ECO:0000255\|PROSITE-ProRule:PRU00837}.
Similarity	Contains 1 MYST-type HAT (histone acetyltransferase) domain. {ECO:0000305}.
Similarity	Contains 2 PHD-type zinc fingers. {ECO:0000255\|PROSITE-ProRule:PRU00146}.
Subcellular Location	Nucleus {ECO:0000305}.
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. {ECO:0000269\|PubMed:11965546, ECO:0000269\|PubMed:16387653, ECO:0000269\|PubMed:18794358}.
Tissue Specificity	Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269\|PubMed:10497217}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYST4ID41488ch10q22.html";