Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Alias (NCBI)PLZF (promyelocytic leukemia zinc finger)
ZNF145 (zinc finger protein 145)
HGNC (Hugo) ZBTB16
HGNC Alias symbPLZF
HGNC Alias namepromyelocytic leukaemia zinc finger
HGNC Previous nameZNF145
HGNC Previous namezinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)
LocusID (NCBI) 7704
Atlas_Id 37
Location 11q23.2  [Link to chromosome band 11q23]
Location_base_pair Starts at 114059711 and ends at 114256765 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ZBTB16.png]
Local_order centromeric to MLL
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HIRA (22q11.21)::ZBTB16 (11q23.2)RAB40B (17q25.3)::ZBTB16 (11q23.2)RARA (17q21.2)::ZBTB16 (11q23.2)
ZBTB16 (11q23.2)::HNRNPK (9q21.32)ZBTB16 (11q23.2)::PAXIP1 (7q36.2)ZBTB16 (11q23.2)::RAB40B (17q25.3)
ZBTB16 (11q23.2)::RARA (17q21.2)ZBTB16 (11q23.2)::ZBTB16 (11q23.2)ZNF789 (7q22.1)::ZBTB16 (11q23.2)

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 --> ZBTB16 - 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 , and like another , with a discrete breakpoint in 11q13 are, closely related to
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, Derré J, Berger R, Waxman S, Chen Z
The Journal of clinical investigation. 1993 ; 91 (5) : 2260-2267.
PMID 8387545
 
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 Thé H, Zelent A
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (19) : 10255-10260.
PMID 9294197
 
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
 

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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 20 ]
  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)
::Acute promyelocytic leukemia (APL) PML::RARA

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
t(5;17)(q35;q21) NPM1::RARA


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial glioma


External links

 

Nomenclature
HGNC (Hugo)ZBTB16   12930
Cards
AtlasPLZFID37
Entrez_Gene (NCBI)ZBTB16    zinc finger and BTB domain containing 16
AliasesPLZF; ZNF145
GeneCards (Weizmann)ZBTB16
Ensembl hg19 (Hinxton)ENSG00000109906 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109906 [Gene_View]  ENSG00000109906 [Sequence]  chr11:114059711-114256765 [Contig_View]  ZBTB16 [Vega]
ICGC DataPortalENSG00000109906
TCGA cBioPortalZBTB16
AceView (NCBI)ZBTB16
Genatlas (Paris)ZBTB16
SOURCE (Princeton)ZBTB16
Genetics Home Reference (NIH)ZBTB16
Genomic and cartography
GoldenPath hg38 (UCSC)ZBTB16  -     chr11:114059711-114256765 +  11q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZBTB16  -     11q23.2   [Description]    (hg19-Feb_2009)
GoldenPathZBTB16 - 11q23.2 [CytoView hg19]  ZBTB16 - 11q23.2 [CytoView hg38]
ImmunoBaseENSG00000109906
Genome Data Viewer NCBIZBTB16 [Mapview hg19]  
OMIM176797   612447   
Gene and transcription
Genbank (Entrez)AB208916 AK126422 BC026902 BC029812 BM969145
RefSeq transcript (Entrez)NM_001018011 NM_001354750 NM_001354751 NM_001354752 NM_006006
Consensus coding sequences : CCDS (NCBI)ZBTB16
Gene ExpressionZBTB16 [ NCBI-GEO ]   ZBTB16 [ EBI - ARRAY_EXPRESS ]   ZBTB16 [ SEEK ]   ZBTB16 [ MEM ]
Gene Expression Viewer (FireBrowse)ZBTB16 [ Firebrowse - Broad ]
GenevisibleExpression of ZBTB16 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7704
GTEX Portal (Tissue expression)ZBTB16
Human Protein AtlasENSG00000109906-ZBTB16 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05516   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05516  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05516
PhosPhoSitePlusQ05516
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ_sf    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)BTB (PF00651)    zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00651    pfam00096   
Domain families : Smart (EMBL)BTB (SM00225)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZBTB16
PDB (RSDB)1BUO    1CS3   
PDB Europe1BUO    1CS3   
PDB (PDBSum)1BUO    1CS3   
PDB (IMB)1BUO    1CS3   
Structural Biology KnowledgeBase1BUO    1CS3   
SCOP (Structural Classification of Proteins)1BUO    1CS3   
CATH (Classification of proteins structures)1BUO    1CS3   
SuperfamilyQ05516
AlphaFold pdb e-kbQ05516   
Human Protein Atlas [tissue]ENSG00000109906-ZBTB16 [tissue]
HPRD11762
Protein Interaction databases
DIP (DOE-UCLA)Q05516
IntAct (EBI)Q05516
BioGRIDZBTB16
STRING (EMBL)ZBTB16
ZODIACZBTB16
Ontologies - Pathways
QuickGOQ05516
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  transcription corepressor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  mesonephros development  DNA binding  DNA binding  protein binding  nucleus  nucleus  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  apoptotic process  central nervous system development  protein C-terminus binding  negative regulation of cell population proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcription repressor complex  protein domain specific binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  protein-containing complex  protein localization to nucleus  embryonic hindlimb morphogenesis  forelimb morphogenesis  embryonic digit morphogenesis  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  post-translational protein modification  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  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  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 by RNA polymerase II  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  transcription corepressor binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  mesonephros development  DNA binding  DNA binding  protein binding  nucleus  nucleus  cytosol  plasma membrane  regulation of transcription by RNA polymerase II  apoptotic process  central nervous system development  protein C-terminus binding  negative regulation of cell population proliferation  embryonic pattern specification  anterior/posterior pattern specification  protein ubiquitination  nuclear body  PML body  nuclear speck  transcription repressor complex  protein domain specific binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  positive regulation of chondrocyte differentiation  protein-containing complex  protein localization to nucleus  embryonic hindlimb morphogenesis  forelimb morphogenesis  embryonic digit morphogenesis  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  post-translational protein modification  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  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  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 [pathway]   
NDEx NetworkZBTB16
Atlas of Cancer Signalling NetworkZBTB16
Wikipedia pathwaysZBTB16
Orthology - Evolution
OrthoDB7704
GeneTree (enSembl)ENSG00000109906
Phylogenetic Trees/Animal Genes : TreeFamZBTB16
Homologs : HomoloGeneZBTB16
Homology/Alignments : Family Browser (UCSC)ZBTB16
Gene fusions - Rearrangements
Fusion : MitelmanHIRA::ZBTB16 [22q11.21/11q23.2]  
Fusion : MitelmanZBTB16::RARA [11q23.2/17q21.2]  
Fusion : QuiverZBTB16
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZBTB16 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZBTB16
dbVarZBTB16
ClinVarZBTB16
MonarchZBTB16
1000_GenomesZBTB16 
Exome Variant ServerZBTB16
GNOMAD BrowserENSG00000109906
Varsome BrowserZBTB16
ACMGZBTB16 variants
VarityQ05516
Genomic Variants (DGV)ZBTB16 [DGVbeta]
DECIPHERZBTB16 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZBTB16 
Mutations
ICGC Data PortalZBTB16 
TCGA Data PortalZBTB16 
Broad Tumor PortalZBTB16
OASIS PortalZBTB16 [ Somatic mutations - Copy number]
Cancer Gene: CensusZBTB16 
Somatic Mutations in Cancer : COSMICZBTB16  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DZBTB16
Mutations and Diseases : HGMDZBTB16
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaZBTB16
DgiDB (Drug Gene Interaction Database)ZBTB16
DoCM (Curated mutations)ZBTB16
CIViC (Clinical Interpretations of Variants in Cancer)ZBTB16
OncoKBZBTB16
NCG (London)ZBTB16
Cancer3DZBTB16
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176797    612447   
Orphanet8559   
DisGeNETZBTB16
MedgenZBTB16
Genetic Testing Registry ZBTB16
NextProtQ05516 [Medical]
GENETestsZBTB16
Target ValidationZBTB16
Huge Navigator ZBTB16 [HugePedia]
ClinGenZBTB16
Clinical trials, drugs, therapy
MyCancerGenomeZBTB16
Protein Interactions : CTDZBTB16
Pharm GKB GenePA37517
PharosQ05516
Clinical trialZBTB16
Miscellaneous
canSAR (ICR)ZBTB16
HarmonizomeZBTB16
DataMed IndexZBTB16
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXZBTB16
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:25:28 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.