UniProt functional annotation for Q7Z3B3



	UniProt functional annotation for Q7Z3B3

UniProt code: Q7Z3B3.

Organism: Homo sapiens (Human).

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

Function: As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:22547026}.

Subunit: Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KAT8; the interaction is direct. {ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:16227571, ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20620954, ECO:0000269|PubMed:21217699, ECO:0000269|PubMed:22547026}.

Subcellular location: Nucleus {ECO:0000269|PubMed:20018852}. Nucleus. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.

Tissue specificity: Expressed in the brain. {ECO:0000269|PubMed:11641718}.

Disease: Koolen-De Vries syndrome (KDVS) [MIM:610443]: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. {ECO:0000269|PubMed:22544363, ECO:0000269|PubMed:22544367, ECO:0000269|PubMed:26424144}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 2]: May be due to an intron retention. {ECO:0000305}.

Sequence caution: Sequence=CAH10565.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

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:		As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription. {ECO:0000269\|PubMed:20018852, ECO:0000269\|PubMed:22547026}.


Subunit:		Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KAT8; the interaction is direct. {ECO:0000269\|PubMed:15960975, ECO:0000269\|PubMed:16227571, ECO:0000269\|PubMed:16543150, ECO:0000269\|PubMed:20018852, ECO:0000269\|PubMed:20620954, ECO:0000269\|PubMed:21217699, ECO:0000269\|PubMed:22547026}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:20018852}. Nucleus. Chromosome, centromere, kinetochore {ECO:0000269\|PubMed:20813266}.
Tissue specificity:		Expressed in the brain. {ECO:0000269\|PubMed:11641718}.
Disease:		Koolen-De Vries syndrome (KDVS) [MIM:610443]: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. {ECO:0000269\|PubMed:22544363, ECO:0000269\|PubMed:22544367, ECO:0000269\|PubMed:26424144}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to an intron retention. {ECO:0000305}.
Sequence caution:		Sequence=CAH10565.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};