Homo sapiens Protein: KAT6B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-79085.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KAT6B | ||||||||||||||||||||||
Protein Name | K(lysine) acetyltransferase 6B | ||||||||||||||||||||||
Synonyms | GTPTS; MORF; MOZ2; MYST4; qkf; querkopf; ZC2HC6B; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000361796 | ||||||||||||||||||||||
InnateDB Gene | IDBG-79073 (KAT6B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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:0000269PubMed:10497217, ECO:0000269PubMed:11965546, ECO:0000269PubMed:16387653}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP.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:0000269PubMed:22077973}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:22265014}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269PubMed:10497217}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001965
Zinc finger, PHD-type IPR002717 MOZ/SAS-like protein IPR005818 Linker histone H1/H5, domain H15 IPR011011 Zinc finger, FYVE/PHD-type IPR016181 Acyl-CoA N-acyltransferase IPR019787 Zinc finger, PHD-finger |
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PFAM |
PF01853
PF00538 PF00628 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00249
SM00526 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q8WYB5 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8WYB5 | ||||||||||||||||||||||
TrEMBL | Q69YR9 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 23522 | ||||||||||||||||||||||
UniGene | Hs.35758 | ||||||||||||||||||||||
RefSeq | NP_001243397 | ||||||||||||||||||||||
HUGO | HGNC:17582 | ||||||||||||||||||||||
OMIM | 605880 | ||||||||||||||||||||||
CCDS | CCDS58085 | ||||||||||||||||||||||
HPRD | 07065 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB002381 AF113514 AF119230 AF119231 AF217500 AL832065 BC014143 BC021128 BC048199 | ||||||||||||||||||||||
GenPept | AAF00095 AAF00099 AAF00100 AAH14143 AAH21128 AAH48199 AAL56647 BAA20837 CAH10408 | ||||||||||||||||||||||