UniProt functional annotation for O60315



	UniProt functional annotation for O60315

UniProt code: O60315.

Organism: Homo sapiens (Human).

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

Function: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269|PubMed:16061479, ECO:0000269|PubMed:20516212}.

Subunit: Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1. {ECO:0000250, ECO:0000269|PubMed:16061479}.

Subcellular location: Nucleus {ECO:0000269|PubMed:16061479, ECO:0000269|PubMed:9853615}. Chromosome {ECO:0000269|PubMed:20516212}.

Induction: Down-regulated by microRNA-221 (miR-221). {ECO:0000269|PubMed:20516212}.

Ptm: Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO- protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity. {ECO:0000269|PubMed:16061479}.

Disease: Mowat-Wilson syndrome (MOWS) [MIM:235730]: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease. {ECO:0000269|PubMed:11448942, ECO:0000269|PubMed:12451214, ECO:0000269|PubMed:15384097, ECO:0000269|PubMed:16688751}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. {ECO:0000305}.

Sequence caution: Sequence=BAA25495.2; Type=Erroneous initiation; Note=Extended 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:		Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269\|PubMed:16061479, ECO:0000269\|PubMed:20516212}.


Subunit:		Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1. {ECO:0000250, ECO:0000269\|PubMed:16061479}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:16061479, ECO:0000269\|PubMed:9853615}. Chromosome {ECO:0000269\|PubMed:20516212}.
Induction:		Down-regulated by microRNA-221 (miR-221). {ECO:0000269\|PubMed:20516212}.
Ptm:		Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO- protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity. {ECO:0000269\|PubMed:16061479}.
Disease:		Mowat-Wilson syndrome (MOWS) [MIM:235730]: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease. {ECO:0000269\|PubMed:11448942, ECO:0000269\|PubMed:12451214, ECO:0000269\|PubMed:15384097, ECO:0000269\|PubMed:16688751}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. {ECO:0000305}.
Sequence caution:		Sequence=BAA25495.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};