InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KAT6B

Summary

InnateDB Protein

IDBP-79079.6

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

ENSP00000287239

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.

Experimentally validated
Total	11 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0004402	histone acetyltransferase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008270	zinc ion binding
GO:0016407	acetyltransferase activity
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups

Biological Process

GO:0006325	chromatin organization
GO:0006334	nucleosome assembly
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0016573	histone acetylation
GO:0043966	histone H3 acetylation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated

Cellular Component

GO:0000786	nucleosome
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0070776	MOZ/MORF histone acetyltransferase complex

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

PFAM

PF01853
PF00538
PF00628

PRINTS

PIRSF

SMART

SM00249
SM00526

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8WYB5