ZBTB16 (zinc finger and BTB domain containing 16)

1998-04-01   Franck Viguié 

Laboratoire de Cytogenetique - Service dHematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

Identity

HGNC
LOCATION
11q23.2
LOCUSID
ALIAS
PLZF,ZNF145
FUSION GENES

DNA/RNA

Atlas Image
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

Proteins

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 name
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 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 gene
both fusion transcripts are expressed
Fusion 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

Pubmed IDLast YearTitleAuthors
83875451993Rearrangements 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 et al
92941971997Leukemia-associated retinoic acid receptor alpha fusion partners, PML and PLZF, heterodimerize and colocalize to nuclear bodies.Koken MH et al
85702091996Reduced 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 et al
89521641996PML, PLZF and NPM genes in the molecular pathogenesis of acute promyelocytic leukemia.Pandolfi PP et al

Other Information

Locus ID:

NCBI: 7704
MIM: 176797
HGNC: 12930
Ensembl: ENSG00000109906

Variants:

dbSNP: 7704
ClinVar: 7704
TCGA: ENSG00000109906
COSMIC: ZBTB16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109906ENST00000335953Q05516
ENSG00000109906ENST00000335953A0A024R3C6
ENSG00000109906ENST00000392996Q05516
ENSG00000109906ENST00000392996A0A024R3C6
ENSG00000109906ENST00000535700F5H5Y7
ENSG00000109906ENST00000539918H0YGW2
ENSG00000109906ENST00000544220F5H6C3

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Acute myeloid leukemiaKEGGko05221
Pathways in cancerKEGGhsa05200
Acute myeloid leukemiaKEGGhsa05221
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
187033612008The transcription factor PLZF directs the effector program of the NKT cell lineage.316
184174452008The promyelocytic leukemia zinc finger-microRNA-221/-222 pathway controls melanoma progression through multiple oncogenic mechanisms.144
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
185680192008A three-step pathway comprising PLZF/miR-146a/CXCR4 controls megakaryopoiesis.78
170824792006A novel signal transduction cascade involving direct physical interaction of the renin/prorenin receptor with the transcription factor promyelocytic zinc finger protein.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
146455472003Growth suppression by acute promyelocytic leukemia-associated protein PLZF is mediated by repression of c-myc expression.51
146570202003A novel angiotensin II type 2 receptor signaling pathway: possible role in cardiac hypertrophy.45
197237632009PLZF is a regulator of homeostatic and cytokine-induced myeloid development.45
200386022010Generation of PLZF+ CD4+ T cells via MHC class II-dependent thymocyte-thymocyte interaction is a physiological process in humans.44

Citation

Franck Viguié

ZBTB16 (zinc finger and BTB domain containing 16)

Atlas Genet Cytogenet Oncol Haematol. 1998-04-01

Online version: http://atlasgeneticsoncology.org/gene/37/zbtb16-(zinc-finger-and-btb-domain-containing-16)