Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q05516 (ZBT16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 156. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger and BTB domain-containing protein 16
Alternative name(s):
Promyelocytic leukemia zinc finger protein
Zinc finger protein 145
Zinc finger protein PLZF
Gene names
Name:ZBTB16
Synonyms:PLZF, ZNF145
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length673 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Binds EPN1. Interacts with ZBTB32 and CUL3. Ref.5 Ref.6 Ref.7

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.

Sequence similarities

Belongs to the krueppel C2H2-type zinc-finger protein family.

Contains 1 BTB (POZ) domain.

Contains 9 C2H2-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
Ubl conjugation pathway
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DiseaseDisease mutation
Mental retardation
Proto-oncogene
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

apoptotic process

Non-traceable author statement PubMed 9294197. Source: UniProtKB

cartilage development

Inferred from direct assay PubMed 21547890. Source: UniProtKB

central nervous system development

Inferred from sequence or structural similarity PubMed 8541544. Source: UniProtKB

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic pattern specification

Inferred from electronic annotation. Source: Ensembl

forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

hemopoiesis

Inferred from direct assay PubMed 8541544. Source: UniProtKB

male germ-line stem cell division

Inferred from electronic annotation. Source: Ensembl

mesonephros development

Inferred from sequence or structural similarity PubMed 8541544. Source: UniProtKB

myeloid cell differentiation

Traceable author statement PubMed 9294197. Source: UniProtKB

negative regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of myeloid cell differentiation

Inferred from sequence or structural similarity PubMed 8541544. Source: UniProtKB

negative regulation of transcription, DNA-templated

Non-traceable author statement PubMed 9294197. Source: UniProtKB

positive regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cartilage development

Inferred from direct assay PubMed 21547890. Source: UniProtKB

positive regulation of chondrocyte differentiation

Inferred from mutant phenotype PubMed 21547890. Source: UniProtKB

positive regulation of fat cell differentiation

Inferred from mutant phenotype PubMed 21547890. Source: UniProtKB

positive regulation of ossification

Inferred from direct assay PubMed 21547890. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 21547890. Source: UniProtKB

protein localization to nucleus

Inferred from electronic annotation. Source: Ensembl

protein ubiquitination

Inferred from electronic annotation. Source: UniProtKB-UniPathway

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentPML body

Inferred from direct assay PubMed 9294197. Source: UniProtKB

cytosol

Inferred from electronic annotation. Source: Ensembl

nuclear body

Inferred from direct assay PubMed 19648967. Source: UniProtKB

nuclear speck

Inferred from direct assay PubMed 8541544. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 21547890PubMed 9294197. Source: UniProtKB

plasma membrane

Inferred from electronic annotation. Source: Ensembl

transcriptional repressor complex

Inferred from direct assay PubMed 12802276. Source: MGI

   Molecular_functionDNA binding

Non-traceable author statement PubMed 9294197. Source: UniProtKB

double-stranded DNA binding

Inferred from electronic annotation. Source: Ensembl

identical protein binding

Inferred from physical interaction PubMed 9294197. Source: IntAct

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein homodimerization activity

Inferred from direct assay PubMed 8622986. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform PLZFB (identifier: Q05516-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform PLZFA (identifier: Q05516-2)

The sequence of this isoform differs from the canonical sequence as follows:
     255-377: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 673673Zinc finger and BTB domain-containing protein 16
PRO_0000047729

Regions

Domain34 – 9663BTB
Zinc finger404 – 42623C2H2-type 1
Zinc finger432 – 45423C2H2-type 2
Zinc finger461 – 48323C2H2-type 3
Zinc finger490 – 51223C2H2-type 4
Zinc finger518 – 54023C2H2-type 5
Zinc finger546 – 56823C2H2-type 6
Zinc finger574 – 59623C2H2-type 7
Zinc finger602 – 62423C2H2-type 8
Zinc finger630 – 65223C2H2-type 9

Sites

Site394 – 3952Breakpoint for translocation to form PLZF-RAR-alpha oncogene

Amino acid modifications

Modified residue761Phosphoserine; by PDPK1 Potential
Modified residue1841Phosphoserine; by PDPK1 Potential
Modified residue1971Phosphoserine; by PDPK1 Potential
Modified residue2561Phosphoserine; by PDPK1 Potential
Modified residue2821Phosphothreonine; by PDPK1 Potential
Modified residue6281Phosphoserine; by PDPK1 Potential

Natural variations

Alternative sequence255 – 377123Missing in isoform PLZFA.
VSP_006896
Natural variant6171M → V in SGYMR. Ref.10
VAR_054912

Experimental info

Sequence conflict5801G → D in CAA79489. Ref.1

Secondary structure

...................... 673
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform PLZFB [UniParc].

Last modified March 7, 2006. Version 2.
Checksum: 51F8E361FA31239E

FASTA67374,274
        10         20         30         40         50         60 
MDLTKMGMIQ LQNPSHPTGL LCKANQMRLA GTLCDVVIMV DSQEFHAHRT VLACTSKMFE 

        70         80         90        100        110        120 
ILFHRNSQHY TLDFLSPKTF QQILEYAYTA TLQAKAEDLD DLLYAAEILE IEYLEEQCLK 

       130        140        150        160        170        180 
MLETIQASDD NDTEATMADG GAEEEEDRKA RYLKNIFISK HSSEESGYAS VAGQSLPGPM 

       190        200        210        220        230        240 
VDQSPSVSTS FGLSAMSPTK AAVDSLMTIG QSLLQGTLQP PAGPEEPTLA GGGRHPGVAE 

       250        260        270        280        290        300 
VKTEMMQVDE VPSQDSPGAA ESSISGGMGD KVEERGKEGP GTPTRSSVIT SARELHYGRE 

       310        320        330        340        350        360 
ESAEQVPPPA EAGQAPTGRP EHPAPPPEKH LGIYSVLPNH KADAVLSMPS SVTSGLHVQP 

       370        380        390        400        410        420 
ALAVSMDFST YGGLLPQGFI QRELFSKLGE LAVGMKSESR TIGEQCSVCG VELPDNEAVE 

       430        440        450        460        470        480 
QHRKLHSGMK TYGCELCGKR FLDSLRLRMH LLAHSAGAKA FVCDQCGAQF SKEDALETHR 

       490        500        510        520        530        540 
QTHTGTDMAV FCLLCGKRFQ AQSALQQHME VHAGVRSYIC SECNRTFPSH TALKRHLRSH 

       550        560        570        580        590        600 
TGDHPYECEF CGSCFRDEST LKSHKRIHTG EKPYECNGCG KKFSLKHQLE THYRVHTGEK 

       610        620        630        640        650        660 
PFECKLCHQR SRDYSAMIKH LRTHNGASPY QCTICTEYCP SLSSMQKHMK GHKPEEIPPD 

       670 
WRIEKTYLYL CYV 

« Hide

Isoform PLZFA [UniParc].

Checksum: 1051E16C91FDC089
Show »

FASTA55061,601

References

« Hide 'large scale' references
[1]"Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia."
Chen Z., Brand N.J., Chen A., Chen S.-J., Tong J.-H., Wang Z.-Y., Waxman S., Zelent A.
EMBO J. 12:1161-1167(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PLZFB), ALTERNATIVE SPLICING, CHROMOSOMAL TRANSLOCATION WITH RARA.
Tissue: Heart ventricle.
[2]"Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene."
Zhang T., Xiong H., Kan L.-X., Zhang C.-K., Jiao X.-F., Fu G., Zhang Q.-H., Lu L., Tong J.-H., Gu B.-W., Yu M., Liu J.-X., Licht J., Waxman S., Zelent A., Chen E., Chen S.-J.
Proc. Natl. Acad. Sci. U.S.A. 96:11422-11427(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM PLZFB).
Tissue: Brain.
[4]"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 S.-J., Zelent A., Tong J.-H., Yu H.-Q., Wang Z.-Y., Derre J., Berger R., Waxman S., Chen Z.
J. Clin. Invest. 91:2260-2267(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 424-455.
[5]"A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF."
Hoatlin M.E., Zhi Y., Ball H., Silvey K., Melnick A., Stone S., Arai S., Hawe N., Owen G., Zelent A., Licht J.D.
Blood 94:3737-3747(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZBTB32.
[6]"Role of the ENTH domain in phosphatidylinositol-4,5-bisphosphate binding and endocytosis."
Itoh T., Koshiba S., Kigawa T., Kikuchi A., Yokoyama S., Takenawa T.
Science 291:1047-1051(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH EPN1.
[7]"Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases."
Furukawa M., He Y.J., Borchers C., Xiong Y.
Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3.
[8]"Crystal structure of the BTB domain from PLZF."
Ahmad K.F., Engel C.K., Prive G.G.
Proc. Natl. Acad. Sci. U.S.A. 95:12123-12128(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 6-126.
[9]"Structure-function studies of the BTB/POZ transcriptional repression domain from the promyelocytic leukemia zinc finger oncoprotein."
Li X., Peng H., Schultz D.C., Lopez-Guisa J.M., Rauscher F.J. III, Marmorstein R.
Cancer Res. 59:5275-5282(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 7-122.
[10]"Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia."
Fischer S., Kohlhase J., Boehm D., Schweiger B., Hoffmann D., Heitmann M., Horsthemke B., Wieczorek D.
J. Med. Genet. 45:731-737(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SGYMR VAL-617.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z19002 mRNA. Translation: CAA79489.1.
AF060568 Genomic DNA. Translation: AAD03619.1.
BC026902 mRNA. Translation: AAH26902.1.
BC029812 mRNA. Translation: AAH29812.1.
S60093 Genomic DNA. Translation: AAC60590.2.
PIRS36336.
RefSeqNP_001018011.1. NM_001018011.1.
NP_005997.2. NM_006006.4.
UniGeneHs.591945.
Hs.682144.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1BUOX-ray1.90A6-126[»]
1CS3X-ray2.00A7-122[»]
ProteinModelPortalQ05516.
SMRQ05516. Positions 6-126, 405-656.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113498. 105 interactions.
DIPDIP-2654N.
IntActQ05516. 67 interactions.
MINTMINT-158782.
STRING9606.ENSP00000338157.

PTM databases

PhosphoSiteQ05516.

Polymorphism databases

DMDM90109930.

Proteomic databases

PaxDbQ05516.
PRIDEQ05516.

Protocols and materials databases

DNASU7704.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000335953; ENSP00000338157; ENSG00000109906. [Q05516-1]
ENST00000392996; ENSP00000376721; ENSG00000109906. [Q05516-1]
GeneID7704.
KEGGhsa:7704.
UCSCuc001poo.1. human. [Q05516-1]

Organism-specific databases

CTD7704.
GeneCardsGC11P113930.
HGNCHGNC:12930. ZBTB16.
HPACAB004540.
HPA001499.
MIM176797. gene.
612447. phenotype.
neXtProtNX_Q05516.
PharmGKBPA37517.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000130800.
HOVERGENHBG057844.
InParanoidQ05516.
KOK10055.
OMAPPAEKHL.
OrthoDBEOG7N8ZTX.
PhylomeDBQ05516.
TreeFamTF350825.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.
SignaLinkQ05516.
UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ05516.
BgeeQ05516.
CleanExHS_ZBTB16.
GenevestigatorQ05516.

Family and domain databases

Gene3D3.30.160.60. 8 hits.
3.30.710.10. 1 hit.
InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00651. BTB. 1 hit.
PF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTSM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 9 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZBTB16. human.
EvolutionaryTraceQ05516.
GeneWikiZinc_finger_and_BTB_domain-containing_protein_16.
GenomeRNAi7704.
NextBio29862.
PROQ05516.
SOURCESearch...

Entry information

Entry nameZBT16_HUMAN
AccessionPrimary (citable) accession number: Q05516
Secondary accession number(s): Q8TAL4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: March 7, 2006
Last modified: April 16, 2014
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM