UniProt functional annotation for Q14839



	UniProt functional annotation for Q14839

UniProt code: Q14839.

Organism: Homo sapiens (Human).

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

Function: Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. {ECO:0000269|PubMed:17626165, ECO:0000269|PubMed:9804427}.

Catalytic activity: Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;

Subunit: Interacts with KLF1; the interaction depends on sumoylation of KLF1, and leads to its transcriptional repression (By similarity). Interacts directly with IKFZ1 in the NuRD complex. Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressor complex (PubMed:9804427, PubMed:10204490, PubMed:15454082). Part of a complex containing ATR and HDAC2 (PubMed:10545197). Interacts with TRIM27 (PubMed:14530259). Interacts with ZGPAT; the interaction is direct (PubMed:19644445). Interacts with BCL6 (PubMed:15454082). Interacts with BRD4 (PubMed:21555454). Interacts with PCNT (PubMed:17626165). Interacts with SETX (PubMed:23149945). Interacts with HDAC1 (PubMed:27616479). {ECO:0000250|UniProtKB:Q6PDQ2, ECO:0000269|PubMed:10204490, ECO:0000269|PubMed:10545197, ECO:0000269|PubMed:14530259, ECO:0000269|PubMed:15454082, ECO:0000269|PubMed:17626165, ECO:0000269|PubMed:19644445, ECO:0000269|PubMed:21555454, ECO:0000269|PubMed:23149945, ECO:0000269|PubMed:27616479, ECO:0000269|PubMed:9804427}.

Subcellular location: Nucleus {ECO:0000269|PubMed:17626165, ECO:0000269|PubMed:27616479}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17626165}. Note=Associates with centrosomes in interphase. {ECO:0000250|UniProtKB:Q6PDQ2}.

Disease: Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. {ECO:0000269|PubMed:27479907, ECO:0000269|PubMed:27616479}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.

Similarity: Belongs to the SNF2/RAD54 helicase family. {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:		Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. {ECO:0000269\|PubMed:17626165, ECO:0000269\|PubMed:9804427}.


Catalytic activity:		Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;
Subunit:		Interacts with KLF1; the interaction depends on sumoylation of KLF1, and leads to its transcriptional repression (By similarity). Interacts directly with IKFZ1 in the NuRD complex. Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressor complex (PubMed:9804427, PubMed:10204490, PubMed:15454082). Part of a complex containing ATR and HDAC2 (PubMed:10545197). Interacts with TRIM27 (PubMed:14530259). Interacts with ZGPAT; the interaction is direct (PubMed:19644445). Interacts with BCL6 (PubMed:15454082). Interacts with BRD4 (PubMed:21555454). Interacts with PCNT (PubMed:17626165). Interacts with SETX (PubMed:23149945). Interacts with HDAC1 (PubMed:27616479). {ECO:0000250\|UniProtKB:Q6PDQ2, ECO:0000269\|PubMed:10204490, ECO:0000269\|PubMed:10545197, ECO:0000269\|PubMed:14530259, ECO:0000269\|PubMed:15454082, ECO:0000269\|PubMed:17626165, ECO:0000269\|PubMed:19644445, ECO:0000269\|PubMed:21555454, ECO:0000269\|PubMed:23149945, ECO:0000269\|PubMed:27616479, ECO:0000269\|PubMed:9804427}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:17626165, ECO:0000269\|PubMed:27616479}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269\|PubMed:17626165}. Note=Associates with centrosomes in interphase. {ECO:0000250\|UniProtKB:Q6PDQ2}.
Disease:		Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159]: An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients. {ECO:0000269\|PubMed:27479907, ECO:0000269\|PubMed:27616479}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.
Similarity:		Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}.