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MGP003381

UniProt Annotations

Entry Information
Gene Namezinc finger and BTB domain containing 16
Protein EntryZBT16_HUMAN
UniProt IDQ05516
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=PLZFB; IsoId=Q05516-1; Sequence=Displayed; Name=PLZFA; IsoId=Q05516-2; Sequence=VSP_006896;
DiseaseNote=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.
DiseaseSkeletal 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 mutations affecting the gene represented in this entry.
FunctionProbable transcription factor. 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. {ECO:0000269|PubMed:14528312}.
InductionBy retinoic acid.
InteractionSelf; NbExp=2; IntAct=EBI-711925, EBI-711925; P68104:EEF1A1; NbExp=4; IntAct=EBI-711925, EBI-352162; O35826:Gne (xeno); NbExp=2; IntAct=EBI-711925, EBI-7109445; P09022:Hoxa1 (xeno); NbExp=3; IntAct=EBI-711925, EBI-3957603; P05231:IL6; NbExp=2; IntAct=EBI-711925, EBI-720533; P29590:PML; NbExp=7; IntAct=EBI-711925, EBI-295890; P29590-5:PML; NbExp=2; IntAct=EBI-711925, EBI-304008; Q9NYJ8:TAB2; NbExp=3; IntAct=EBI-711925, EBI-358708; Q12933:TRAF2; NbExp=2; IntAct=EBI-711925, EBI-355744;
PathwayProtein modification; protein ubiquitination.
SimilarityBelongs to the krueppel C2H2-type zinc-finger protein family. {ECO:0000305}.
SimilarityContains 1 BTB (POZ) domain. {ECO:0000255|PROSITE- ProRule:PRU00037}.
SimilarityContains 9 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00042}.
Subcellular LocationNucleus.
SubunitBinds EPN1. Interacts with ZBTB32 and CUL3. {ECO:0000269|PubMed:10572087, ECO:0000269|PubMed:11161217, ECO:0000269|PubMed:14528312}.
Tissue SpecificityWithin 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.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLZFID37.html";
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