UniProt functional annotation for Q05516



	UniProt functional annotation for Q05516

UniProt code: Q05516.

Organism: Homo sapiens (Human).

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

Function: Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). {ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:24359566}.

Pathway: Protein modification; protein ubiquitination.

Subunit: Binds EPN1 (PubMed:11161217). Interacts with ZBTB32 and CUL3 (PubMed:10572087, PubMed:14528312). Interacts with ATP7B (PubMed:16676348). Interacts with transcriptional corepressor RUNX1T1 (via its N-terminus); the interaction increases the transcription repression activity of ZBTB16 (PubMed:10688654). Interacts (via C2H2- type zinc finger domains 1 and 2) with RNF112 (PubMed:24359566). {ECO:0000269|PubMed:10572087, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:11161217, ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:16676348, ECO:0000269|PubMed:24359566}.

Subcellular location: Nucleus {ECO:0000269|PubMed:24359566}. Nucleus, nuclear body {ECO:0000269|PubMed:24359566}.

Tissue specificity: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.

Induction: By retinoic acid.

Disease: Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. {ECO:0000269|PubMed:18611983}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA. {ECO:0000269|PubMed:8384553}.

Similarity: Belongs to the krueppel C2H2-type zinc-finger protein 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:		Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). {ECO:0000269\|PubMed:10688654, ECO:0000269\|PubMed:14528312, ECO:0000269\|PubMed:24359566}.


Pathway:		Protein modification; protein ubiquitination.
Subunit:		Binds EPN1 (PubMed:11161217). Interacts with ZBTB32 and CUL3 (PubMed:10572087, PubMed:14528312). Interacts with ATP7B (PubMed:16676348). Interacts with transcriptional corepressor RUNX1T1 (via its N-terminus); the interaction increases the transcription repression activity of ZBTB16 (PubMed:10688654). Interacts (via C2H2- type zinc finger domains 1 and 2) with RNF112 (PubMed:24359566). {ECO:0000269\|PubMed:10572087, ECO:0000269\|PubMed:10688654, ECO:0000269\|PubMed:11161217, ECO:0000269\|PubMed:14528312, ECO:0000269\|PubMed:16676348, ECO:0000269\|PubMed:24359566}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:24359566}. Nucleus, nuclear body {ECO:0000269\|PubMed:24359566}.
Tissue specificity:		Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.
Induction:		By retinoic acid.
Disease:		Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. {ECO:0000269\|PubMed:18611983}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA. {ECO:0000269\|PubMed:8384553}.
Similarity:		Belongs to the krueppel C2H2-type zinc-finger protein family. {ECO:0000305}.