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ZBTB16 (zinc finger and BTB domain containing 16)

Written1998-04Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

Identity

Other namesPLZF
ZNF145
HGNC (Hugo) ZBTB16
LocusID (NCBI) 7704
Atlas_Id 37
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
Fusion genes
(updated 2015)
HIRA (22q11.21) / ZBTB16 (11q23.2)ZBTB16 (11q23.2) / RARA (17q21.2)

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

Note
Entity t(11;17)(q23;q21) in M3 AML --> PLZF - RARA
Disease acute promyelocytic leukaemia with a 'variant' translocation
Prognosis worse prognosis than M3 AML 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.
  

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
 

Citation

This paper should be referenced as such :
Viguié, F
ZBTB16 (zinc finger, BTB domain containing 16)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):84-85.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PLZFID37.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [36219+1]
  11q23 rearrangements (KMT2A) in leukaemia
Classification of acute myeloid leukemias
inv(16)(p13q24) CBFA2T3/GLIS2
inv(3)(p12q26) ?/MECOM
inv(3)(q23q26) ?/MECOM
M3/M3v acute myeloid leukemia (AML M3/M3v);Acute promyelocytic leukemia (APL)
t(3;3)(p24;q26) ?/MECOM
t(3;5)(q26;q34) ?/MECOM
t(3;6)(q25;q26) ?/MECOM
t(3;9)(q26;p23) ?/MECOM
t(3;11)(q26;p15) ?/MECOM
t(3;12)(q26;q21) ?/MECOM
t(3;17)(q26;q22) ?/MECOM
t(3;18)(q26;q11) ?/MECOM
t(4;17)(q12;q21) FIP1L1/RARA
t(7;19)(q34;p13) TRB/LYL1
t(11;17)(q23;q21) ZBTB16/RARA
t(11;17)(q13;q21) NUMA1/RARA
t(15;17)(q24;q21) PML/RARA

External links

Nomenclature
HGNC (Hugo)ZBTB16   12930
Cards
AtlasPLZFID37
Entrez_Gene (NCBI)ZBTB16  7704  zinc finger and BTB domain containing 16
GeneCards (Weizmann)ZBTB16
Ensembl hg19 (Hinxton)ENSG00000109906 [Gene_View]  chr11:113931288-114121397 [Contig_View]  ZBTB16 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109906 [Gene_View]  chr11:113931288-114121397 [Contig_View]  ZBTB16 [Vega]
ICGC DataPortalENSG00000109906
TCGA cBioPortalZBTB16
AceView (NCBI)ZBTB16
Genatlas (Paris)ZBTB16
WikiGenes7704
SOURCE (Princeton)ZBTB16
Genomic and cartography
GoldenPath hg19 (UCSC)ZBTB16  -     chr11:113931288-114121397 +  11q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ZBTB16  -     11q23.1   [Description]    (hg38-Dec_2013)
EnsemblZBTB16 - 11q23.1 [CytoView hg19]  ZBTB16 - 11q23.1 [CytoView hg38]
Mapping of homologs : NCBIZBTB16 [Mapview hg19]  ZBTB16 [Mapview hg38]
OMIM176797   612447   
Gene and transcription
Genbank (Entrez)AB208916 AK126422 BC026902 BC029812 BM969145
RefSeq transcript (Entrez)NM_001018011 NM_006006
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_012140 NT_033899 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 ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)7704
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05516 (Uniprot)
NextProtQ05516  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05516
Splice isoforms : SwissVarQ05516 (Swissvar)
PhosPhoSitePlusQ05516
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ-like    BTB/POZ_fold    BTB_POZ    Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
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)ZBTB16
PDB (SRS)1BUO    1CS3   
PDB (PDBSum)1BUO    1CS3   
PDB (IMB)1BUO    1CS3   
PDB (RSDB)1BUO    1CS3   
Structural Biology KnowledgeBase1BUO    1CS3   
SCOP (Structural Classification of Proteins)1BUO    1CS3   
CATH (Classification of proteins structures)1BUO    1CS3   
Human Protein AtlasENSG00000109906
Peptide AtlasQ05516
HPRD11762
IPIIPI00305613   IPI00220823   IPI01010182   IPI01015041   
Protein Interaction databases
DIP (DOE-UCLA)Q05516
IntAct (EBI)Q05516
FunCoupENSG00000109906
BioGRIDZBTB16
IntegromeDBZBTB16
STRING (EMBL)ZBTB16
ZODIACZBTB16
Ontologies - Pathways
QuickGOQ05516
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  mesonephros development  DNA binding  DNA binding  protein binding  nucleus  nucleolus  cytosol  plasma membrane  transcription, DNA-templated  apoptotic process  central nervous system development  protein C-terminus binding  negative regulation of cell proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcriptional repressor complex  protein domain specific binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  protein localization to nucleus  embryonic hindlimb morphogenesis  forelimb morphogenesis  embryonic digit 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-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  metal ion binding  male germ-line stem cell asymmetric division  positive regulation of NK T cell differentiation  cartilage development  positive regulation of cartilage development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  mesonephros development  DNA binding  DNA binding  protein binding  nucleus  nucleolus  cytosol  plasma membrane  transcription, DNA-templated  apoptotic process  central nervous system development  protein C-terminus binding  negative regulation of cell proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcriptional repressor complex  protein domain specific binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  protein localization to nucleus  embryonic hindlimb morphogenesis  forelimb morphogenesis  embryonic digit 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-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  metal ion binding  male germ-line stem cell asymmetric division  positive regulation of NK T cell differentiation  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   
REACTOMEQ05516 [protein]
REACTOME PathwaysR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation [pathway]
Protein Interaction DatabaseZBTB16
Atlas of Cancer Signalling NetworkZBTB16
Wikipedia pathwaysZBTB16
Orthology - Evolution
OrthoDB7704
GeneTree (enSembl)ENSG00000109906
Phylogenetic Trees/Animal Genes : TreeFamZBTB16
Gene fusions - Rearrangements
Fusion : MitelmanHIRA/ZBTB16 [22q11.21/11q23.2]  [t(11;22)(q23;q11)]  
Fusion : MitelmanZBTB16/RARA [11q23.2/17q21.2]  [ins(11;17)(q23;q21q21)]  [t(11;17)(q23;q21)]  
[t(15;17)(q22;q21)]  [t(5;17)(q35;q21)]  
Fusion: TCGAHIRA 22q11.21 ZBTB16 11q23.2 LGG
Fusion : TICdbZBTB16 [11q23.2]  -  RARA [17q21.2]
Polymorphisms : SNP, variants
NCBI Variation ViewerZBTB16 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZBTB16
dbVarZBTB16
ClinVarZBTB16
1000_GenomesZBTB16 
Exome Variant ServerZBTB16
SNP (GeneSNP Utah)ZBTB16
SNP : HGBaseZBTB16
Genetic variants : HAPMAPZBTB16
Genomic Variants (DGV)ZBTB16 [DGVbeta]
Mutations
ICGC Data PortalZBTB16 
TCGA Data PortalZBTB16 
Broad Tumor PortalZBTB16
OASIS PortalZBTB16 [ Somatic mutations - Copy number]
Cancer Gene: CensusZBTB16 
Somatic Mutations in Cancer : COSMICZBTB16 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ZBTB16
DgiDB (Drug Gene Interaction Database)ZBTB16
DoCM (Curated mutations)ZBTB16 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZBTB16 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:113931288-114121397
CONAN: Copy Number AnalysisZBTB16 
Mutations and Diseases : HGMDZBTB16
OMIM176797    612447   
MedgenZBTB16
NextProtQ05516 [Medical]
TSGene7704
GENETestsZBTB16
Huge Navigator ZBTB16 [HugePedia]  ZBTB16 [HugeCancerGEM]
snp3D : Map Gene to Disease7704
BioCentury BCIQZBTB16
General knowledge
Homologs : HomoloGeneZBTB16
Homology/Alignments : Family Browser (UCSC)ZBTB16
Chemical/Protein Interactions : CTD7704
Chemical/Pharm GKB GenePA37517
Clinical trialZBTB16
Other databases
Probes
ProbePLZF at 11q23.1 in normal cells (Bari)
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZBTB16
GoPubMedZBTB16
iHOPZBTB16
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 11 09:52:33 CET 2016

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