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
ZBTB16
LOCATION
11q23.2
LOCUSID
7704
ALIAS
PLZF,ZNF145
FUSION GENES
Show Gene Fusions

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.

Article 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382459542024Investigating the association of previously identified genome-wide significant loci (rs10739076 and rs1784692) with PCOS susceptibility and its related traits in Indian women.0
382871162024Deubiquitinase USP7 stabilizes KDM5B and promotes tumor progression and cisplatin resistance in nasopharyngeal carcinoma through the ZBTB16/TOP2A axis.2
383733862024Promyelocytic leukemia zinc finger controls type 2 immune responses in the lungs by regulating lineage commitment and the function of innate and adaptive immune cells.0
384427142024Human cortical neurogenesis is altered via glucocorticoid-mediated regulation of ZBTB16 expression.2
386541072024ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma.0
387899602024Long non-coding RNA LINC00930 targeting miR-6792-3p/ZBTB16 regulates the proliferation and EMT of pancreatic cancer.1
382459542024Investigating the association of previously identified genome-wide significant loci (rs10739076 and rs1784692) with PCOS susceptibility and its related traits in Indian women.0
382871162024Deubiquitinase USP7 stabilizes KDM5B and promotes tumor progression and cisplatin resistance in nasopharyngeal carcinoma through the ZBTB16/TOP2A axis.2
383733862024Promyelocytic leukemia zinc finger controls type 2 immune responses in the lungs by regulating lineage commitment and the function of innate and adaptive immune cells.0
384427142024Human cortical neurogenesis is altered via glucocorticoid-mediated regulation of ZBTB16 expression.2
386541072024ZBTB16 inhibits DNA replication and induces cell cycle arrest by targeting WDHD1 transcription in lung adenocarcinoma.0
387899602024Long non-coding RNA LINC00930 targeting miR-6792-3p/ZBTB16 regulates the proliferation and EMT of pancreatic cancer.1
362168982023Hyperthermia promotes degradation of the acute promyelocytic leukemia driver oncoprotein ZBTB16/RARα.0
367682692023The Role of Promyelocytic Leukemia Zinc Finger (PLZF) and Glial-Derived Neurotrophic Factor Family Receptor Alpha 1 (GFRα1) in the Cryopreservation of Spermatogonia Stem Cells.1
362168982023Hyperthermia promotes degradation of the acute promyelocytic leukemia driver oncoprotein ZBTB16/RARα.0

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)