UniProt functional annotation for P55201



	UniProt functional annotation for P55201

UniProt code: P55201.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:24065767). Some HAT complexes preferentially mediate histone H3 'Lys-23' (H3K23ac) acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}.

Subunit: Component of some HBO1 complex composed of KAT7/HBO1, MEAF6, ING5, and BRPF1 (PubMed:24065767). Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3 (PubMed:16387653, PubMed:18794358, PubMed:27939640). Interacts (via PHD-type zinc finger domains) with unmethylated histone H3 at 'Lys-4' (H3K4me0) (PubMed:24065767). Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3) (PubMed:20400950, PubMed:21720545). Interacts with ING5; interaction directs BRPF1 to H4K4me3-enriched chromatin at the 5' of active genes (PubMed:24065767). Interacts with KAT7 (PubMed:27939640). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:20400950, ECO:0000269|PubMed:21720545, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}.

Subcellular location: Nucleus {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}. Chromosome {ECO:0000269|PubMed:24065767}. Cytoplasm {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:27939640}. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6 (PubMed:18794358, PubMed:27939640). Localizes to transcription start sites (PubMed:24065767). {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:27939640}.

Tissue specificity: High levels in testis. {ECO:0000269|PubMed:7906940}.

Ptm: Acetylated by KAT6A. {ECO:0000269|PubMed:18794358}.

Disease: Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. {ECO:0000269|PubMed:27939639, ECO:0000269|PubMed:27939640}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:24065767). Some HAT complexes preferentially mediate histone H3 'Lys-23' (H3K23ac) acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358). {ECO:0000269\|PubMed:16387653, ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:24065767, ECO:0000269\|PubMed:27939640}.


Subunit:		Component of some HBO1 complex composed of KAT7/HBO1, MEAF6, ING5, and BRPF1 (PubMed:24065767). Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3 (PubMed:16387653, PubMed:18794358, PubMed:27939640). Interacts (via PHD-type zinc finger domains) with unmethylated histone H3 at 'Lys-4' (H3K4me0) (PubMed:24065767). Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3) (PubMed:20400950, PubMed:21720545). Interacts with ING5; interaction directs BRPF1 to H4K4me3-enriched chromatin at the 5' of active genes (PubMed:24065767). Interacts with KAT7 (PubMed:27939640). {ECO:0000269\|PubMed:16387653, ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:20400950, ECO:0000269\|PubMed:21720545, ECO:0000269\|PubMed:24065767, ECO:0000269\|PubMed:27939640}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:24065767, ECO:0000269\|PubMed:27939640}. Chromosome {ECO:0000269\|PubMed:24065767}. Cytoplasm {ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:27939640}. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6 (PubMed:18794358, PubMed:27939640). Localizes to transcription start sites (PubMed:24065767). {ECO:0000269\|PubMed:18794358, ECO:0000269\|PubMed:24065767, ECO:0000269\|PubMed:27939640}.
Tissue specificity:		High levels in testis. {ECO:0000269\|PubMed:7906940}.
Ptm:		Acetylated by KAT6A. {ECO:0000269\|PubMed:18794358}.
Disease:		Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. {ECO:0000269\|PubMed:27939639, ECO:0000269\|PubMed:27939640}. Note=The disease is caused by variants affecting the gene represented in this entry.