Human Gene ZBTB16 (ENST00000335953.9_4) from GENCODE V47lift37
  Description: zinc finger and BTB domain containing 16, transcript variant 1 (from RefSeq NM_006006.6)
Gencode Transcript: ENST00000335953.9_4
Gencode Gene: ENSG00000109906.15_14
Transcript (Including UTRs)
   Position: hg19 chr11:113,930,433-114,127,487 Size: 197,055 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr11:113,934,023-114,121,277 Size: 187,255 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:113,930,433-114,127,487)mRNA (may differ from genome)Protein (673 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZBT16_HUMAN
DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 16; AltName: Full=Promyelocytic leukemia zinc finger protein; AltName: Full=Zinc finger protein 145; AltName: Full=Zinc finger protein PLZF;
FUNCTION: Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Binds EPN1. Interacts with ZBTB32 and CUL3.
INTERACTION: Self; NbExp=2; IntAct=EBI-711925, EBI-711925; P68104:EEF1A1; NbExp=4; IntAct=EBI-711925, EBI-352162; P29590:PML; NbExp=7; IntAct=EBI-711925, EBI-295890; P29590-5:PML; NbExp=2; IntAct=EBI-711925, EBI-304008; Q9NYJ8:TAB2; NbExp=3; IntAct=EBI-711925, EBI-358708;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.
INDUCTION: By retinoic acid.
DISEASE: Defects in ZBTB16 are the cause of skeletal defects genital hypoplasia and mental retardation (SGYMR) [MIM:612447]. A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.
DISEASE: Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 9 C2H2-type zinc fingers.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLZF37.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZBTB16
Diseases sorted by gene-association score: skeletal defects, genital hypoplasia, and mental retardation* (1230), leukemia, acute promyelocytic, somatic* (170), leukemia (19), leukemia, acute myeloid (1), fanconi anemia, complementation group a (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.11 RPKM in Artery - Tibial
Total median expression: 573.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.40262-0.307 Picture PostScript Text
3' UTR -2175.306210-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF00651 - BTB/POZ domain
PF12874 - Zinc-finger of C2H2 type
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger

SCOP Domains:
54695 - POZ domain
57667 - beta-beta-alpha zinc fingers
57783 - Zinc beta-ribbon

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BUO - X-ray MuPIT 1CS3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q05516
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001823 mesonephros development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0007417 central nervous system development
GO:0008285 negative regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0009952 anterior/posterior pattern specification
GO:0016567 protein ubiquitination
GO:0030097 hemopoiesis
GO:0030099 myeloid cell differentiation
GO:0032332 positive regulation of chondrocyte differentiation
GO:0034504 protein localization to nucleus
GO:0035116 embryonic hindlimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0043065 positive regulation of apoptotic process
GO:0043687 post-translational protein modification
GO:0045600 positive regulation of fat cell differentiation
GO:0045638 negative regulation of myeloid cell differentiation
GO:0045778 positive regulation of ossification
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048133 male germ-line stem cell asymmetric division
GO:0051138 positive regulation of NK T cell differentiation
GO:0051216 cartilage development
GO:0061036 positive regulation of cartilage development

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016604 nuclear body
GO:0016605 PML body
GO:0016607 nuclear speck
GO:0017053 transcriptional repressor complex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BX648973 - Homo sapiens mRNA; cDNA DKFZp686F2164 (from clone DKFZp686F2164).
AB208916 - Homo sapiens mRNA for zinc finger and BTB domain containing 16 variant protein.
BC029812 - Homo sapiens zinc finger and BTB domain containing 16, mRNA (cDNA clone MGC:35284 IMAGE:5175961), complete cds.
BC026902 - Homo sapiens zinc finger and BTB domain containing 16, mRNA (cDNA clone MGC:24908 IMAGE:4944546), complete cds.
Z19002 - H.sapiens of PLZF gene encoding kruppel-like zinc finger protein.
EU446725 - Synthetic construct Homo sapiens clone IMAGE:100069857; IMAGE:100011934; FLH258581.01L zinc finger and BTB domain containing 16 (ZBTB16) gene, encodes complete protein.
AB527720 - Synthetic construct DNA, clone: pF1KB6229, Homo sapiens ZBTB16 gene for zinc finger and BTB domain containing 16, without stop codon, in Flexi system.
KJ897771 - Synthetic construct Homo sapiens clone ccsbBroadEn_07165 ZBTB16 gene, encodes complete protein.
KU178400 - Homo sapiens zinc finger and BTB domain containing 16 isoform 1 (ZBTB16) mRNA, partial cds.
KU178401 - Homo sapiens zinc finger and BTB domain containing 16 isoform 2 (ZBTB16) mRNA, partial cds, alternatively spliced.
JD496268 - Sequence 477292 from Patent EP1572962.
JD554717 - Sequence 535741 from Patent EP1572962.
JD100322 - Sequence 81346 from Patent EP1572962.
JD537982 - Sequence 519006 from Patent EP1572962.
DM107525 - METHODS FOR GENERATING NEW HAIR FOLLICLES, TREATING BALDNESS, AND HAIR REMOVAL.
HW120529 - JP 2013049691-A/84: METHODS FOR GENERATING NEW HAIR FOLLICLES, TREATING BALDNESS, AND HAIR REMOVAL.
LF858632 - JP 2015172074-A/84: METHODS FOR GENERATING NEW HAIR FOLLICLES, TREATING BALDNESS, AND HAIR REMOVAL.
JD407412 - Sequence 388436 from Patent EP1572962.
DQ596438 - Homo sapiens piRNA piR-34504, complete sequence.
MA725982 - JP 2017114907-A/84: METHODS FOR GENERATING NEW HAIR FOLLICLES, TREATING BALDNESS, AND HAIR REMOVAL.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_egfr_smrtePathway - Map Kinase Inactivation of SMRT Corepressor

Reactome (by CSHL, EBI, and GO)

Protein Q05516 (Reactome details) participates in the following event(s):

R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000335953.1, ENST00000335953.2, ENST00000335953.3, ENST00000335953.4, ENST00000335953.5, ENST00000335953.6, ENST00000335953.7, ENST00000335953.8, NM_006006, PLZF, Q05516, Q8TAL4, uc317uke.1, uc317uke.2, ZBT16_HUMAN, ZNF145
UCSC ID: ENST00000335953.9_4
RefSeq Accession: NM_006006.6
Protein: Q05516 (aka ZBT16_HUMAN or ZB16_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.