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ZBTB16 (zinc finger and BTB domain containing 16)

Identity

Other namesPLZF (promyelocytic leukemia zinc finger)
ZNF145 (zinc finger protein 145)
HGNC (Hugo) ZBTB16
LocusID (NCBI) 7704
Location 11q23.2
Location_base_pair Starts at 113931288 and ends at 114121397 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order centromeric to MLL

DNA/RNA

 
  c-PLZF at 11q23.1 in normal cells: PAC 980J15 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Transcription 2.2 kb mRNA; alternative splicing: --> PLZFa and PLZFb

Protein

Description 540 and 673 amino acids, 62 and 74 kDa (PLZFa and b respectively); Kr¸ppel-like zinc finger protein; N-term BTB/POZ domain (protein-protein interaction motif) and 9 zinc finger domains in C-term
Expression highly specific for hematopoietic cells; during mouse development, PLZF is expressed in embryonic tissus, giving rise to hematopoietic progenitors; in man, PLZF is expressed in CD34+ progenitor cells and in primitive multipotent hematopoietic cell lines; PLZF levels decrease progressively with cell maturation and also with maturation induced by ATRA treatment.
Localisation nuclear; immunodetection shows a nuclear speckeled distribution of PLZF, resulting from a localization on discrete nuclear bodies whose formation is dependent on the integrity of the BTB/POZ domain.
Function putative transcription factor associated with myeloid differentiation; sequence specific DNA binding activity; in co-transfection experiments, PLZF has been shown to represses the transcription.
Homology with the zinc finger MZF-1

Implicated in

Entity t(11;17)(q23;q21) in M3 ANLL --> PLZF - RARA
Disease acute promyelocytic leukaemia with a 'variant' translocation
Prognosis worse prognosis than M3 ANLL with t(15;17), because the patients fail to respond to the maturation effect of ATRA
Cytogenetics t(11;17), like t(15;17)(q22;q21), and like another t(11;17)(q13;q21), with a discrete breakpoint in 11q13 are, closely related to t(15;17)(q22;q21)
Hybrid/Mutated Gene both fusion transcripts are expressed
Abnormal Protein the two fusion proteins are produced; the PLZF/RARa protein contains the N-terminal BTB/POZ domain and two out of the nine zinc finger domains from PLZF; tThe POZ domain is largely responsible for the activity of PLZF/RARa fusion protein.
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0817q24q22ID1494 t1119q23p13ID1540 t614p25q32IRF4IGHID1175 t1213p13q14ID1323 t1117q23q12AF17ID1027
t1117p15p13ID2134 t1114ID1070 dic920ID1143 dic0709p11p12ID1554 i17qID1038
t0109p34q34ID2143 t0109q24q34ID2109

External links

Nomenclature
HGNC (Hugo)ZBTB16   12930
Cards
AtlasPLZF37
Entrez_Gene (NCBI)ZBTB16  7704  zinc finger and BTB domain containing 16
GeneCards (Weizmann)ZBTB16
Ensembl (Hinxton)ENSG00000109906 [Gene_View]  chr11:113931288-114121397 [Contig_View]  ZBTB16 [Vega]
ICGC DataPortalENSG00000109906
cBioPortalZBTB16
AceView (NCBI)ZBTB16
Genatlas (Paris)ZBTB16
WikiGenes7704
SOURCE (Princeton)NM_001018011 NM_006006
Genomic and cartography
GoldenPath (UCSC)ZBTB16  -  11q23.2   chr11:113931288-114121397 +  11q23   [Description]    (hg19-Feb_2009)
EnsemblZBTB16 - 11q23 [CytoView]
Mapping of homologs : NCBIZBTB16 [Mapview]
OMIM176797   612447   
Gene and transcription
Genbank (Entrez)AB208916 AK126422 BC026902 BC029812 BM969145
RefSeq transcript (Entrez)NM_001018011 NM_006006
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_012140 NT_033899 NW_001838042 NW_004929381
Consensus coding sequences : CCDS (NCBI)ZBTB16
Cluster EST : UnigeneHs.682144 [ NCBI ]
CGAP (NCI)Hs.682144
Alternative Splicing : Fast-db (Paris)GSHG0005272
Alternative Splicing GalleryENSG00000109906
Gene ExpressionZBTB16 [ NCBI-GEO ]     ZBTB16 [ SEEK ]   ZBTB16 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05516 (Uniprot)
NextProtQ05516  [Medical]
With graphics : InterProQ05516
Splice isoforms : SwissVarQ05516 (Swissvar)
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ-like [organisation]   BTB/POZ_fold [organisation]   BTB_POZ [organisation]   Znf_C2H2 [organisation]   Znf_C2H2-like [organisation]   Znf_C2H2/integrase_DNA-bd [organisation]  
Related proteins : CluSTrQ05516
Domain families : Pfam (Sanger)BTB (PF00651)    zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00651    pfam00096   
Domain families : Smart (EMBL)BTB (SM00225)  ZnF_C2H2 (SM00355)  
DMDM Disease mutations7704
Blocks (Seattle)Q05516
PDB (SRS)1BUO    1CS3   
PDB (PDBSum)1BUO    1CS3   
PDB (IMB)1BUO    1CS3   
PDB (RSDB)1BUO    1CS3   
Human Protein AtlasENSG00000109906 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ05516
HPRD11762
IPIIPI00305613   IPI00220823   IPI01010182   IPI01015041   
Protein Interaction databases
DIP (DOE-UCLA)Q05516
IntAct (EBI)Q05516
FunCoupENSG00000109906
BioGRIDZBTB16
InParanoidQ05516
Interologous Interaction database Q05516
IntegromeDBZBTB16
STRING (EMBL)ZBTB16
Ontologies - Pathways
Ontology : AmiGOmesonephros development  DNA binding  DNA binding  protein binding  nucleus  transcription, DNA-templated  apoptotic process  central nervous system development  negative regulation of cell proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcriptional repressor complex  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  embryonic hindlimb morphogenesis  forelimb morphogenesis  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  positive regulation of fat cell differentiation  negative regulation of myeloid cell differentiation  positive regulation of ossification  negative regulation of transcription, DNA-dependent  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  metal ion binding  male germ-line stem cell division  cartilage development  positive regulation of cartilage development  
Ontology : EGO-EBImesonephros development  DNA binding  DNA binding  protein binding  nucleus  transcription, DNA-templated  apoptotic process  central nervous system development  negative regulation of cell proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcriptional repressor complex  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  embryonic hindlimb morphogenesis  forelimb morphogenesis  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  positive regulation of fat cell differentiation  negative regulation of myeloid cell differentiation  positive regulation of ossification  negative regulation of transcription, DNA-dependent  negative regulation of transcription, DNA-dependent  positive regulation of transcription, DNA-dependent  metal ion binding  male germ-line stem cell division  cartilage development  positive regulation of cartilage development  
Pathways : BIOCARTAMap Kinase Inactivation of SMRT Corepressor [Genes]   
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
Protein Interaction DatabaseZBTB16
Wikipedia pathwaysZBTB16
Gene fusion - rearrangments
Rearrangement : TICdbZBTB16 [11q23.2]  -  RARA [4q12]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ZBTB16
snp3D : Map Gene to Disease7704
SNP (GeneSNP Utah)ZBTB16
SNP : HGBaseZBTB16
Genetic variants : HAPMAPZBTB16
Exome VariantZBTB16
1000_GenomesZBTB16 
ICGC programENSG00000109906 
Cancer Gene: CensusZBTB16 
Somatic Mutations in Cancer : COSMICZBTB16 
CONAN: Copy Number AnalysisZBTB16 
Mutations and Diseases : HGMDZBTB16
Genomic VariantsZBTB16  ZBTB16 [DGVbeta]
dbVarZBTB16
ClinVarZBTB16
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM176797    612447   
MedgenZBTB16
GENETestsZBTB16
Disease Genetic AssociationZBTB16
Huge Navigator ZBTB16 [HugePedia]  ZBTB16 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneZBTB16
Homology/Alignments : Family Browser (UCSC)ZBTB16
Phylogenetic Trees/Animal Genes : TreeFamZBTB16
Chemical/Protein Interactions : CTD7704
Chemical/Pharm GKB GenePA37517
Clinical trialZBTB16
Cancer Resource (Charite)ENSG00000109906
Other databases
Probes
ProbePLZF at 11q23.1 in normal cells (Bari)
Litterature
PubMed108 Pubmed reference(s) in Entrez
CoreMineZBTB16
iHOPZBTB16

Bibliography

Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia.
Chen SJ, Zelent A, Tong JH, Yu HQ, Wang ZY, Derrˆ© J, Berger R, Waxman S, Chen Z
The Journal of clinical investigation. 1993 ; 91 (5) : 2260-2267.
PMID 8387545
 
Reduced and altered DNA-binding and transcriptional properties of the PLZF-retinoic acid receptor-alpha chimera generated in t(11;17)-associated acute promyelocytic leukemia.
Licht JD, Shaknovich R, English MA, Melnick A, Li JY, Reddy JC, Dong S, Chen SJ, Zelent A, Waxman S
Oncogene. 1996 ; 12 (2) : 323-336.
PMID 8570209
 
PML, PLZF and NPM genes in the molecular pathogenesis of acute promyelocytic leukemia.
Pandolfi PP
Haematologica. 1996 ; 81 (5) : 472-482.
PMID 8952164
 
Leukemia-associated retinoic acid receptor alpha fusion partners, PML and PLZF, heterodimerize and colocalize to nuclear bodies.
Koken MH, Reid A, Quignon F, Chelbi-Alix MK, Davies JM, Kabarowski JH, Zhu J, Dong S, Chen S, Chen Z, Tan CC, Licht J, Waxman S, de Thˆ© H, Zelent A
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (19) : 10255-10260.
PMID 9294197
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-1998Franck Viguié

Citation

This paper should be referenced as such :
Viguié, F
ZBTB16 (zinc finger and BTB domain containing 16)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):84-85.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PLZF37.html

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indexed on : Fri Jul 11 16:41:42 CEST 2014

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