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Protein

Zinc finger and BTB domain-containing protein 16

Gene

ZBTB16

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri404 – 426C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri432 – 454C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri461 – 483C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri518 – 540C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri546 – 568C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri574 – 596C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri602 – 624C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri630 – 652C2H2-type 9PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

  • DNA binding Source: MGI
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • protein C-terminus binding Source: Ensembl
  • protein domain specific binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB
  • RNA polymerase II distal enhancer sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding Source: NTNU_SB

GO - Biological processi

  • anterior/posterior pattern specification Source: Ensembl
  • apoptotic process Source: UniProtKB
  • cartilage development Source: UniProtKB
  • central nervous system development Source: UniProtKB
  • embryonic digit morphogenesis Source: Ensembl
  • embryonic hindlimb morphogenesis Source: Ensembl
  • embryonic pattern specification Source: Ensembl
  • forelimb morphogenesis Source: Ensembl
  • hemopoiesis Source: UniProtKB
  • male germ-line stem cell asymmetric division Source: Ensembl
  • mesonephros development Source: UniProtKB
  • myeloid cell differentiation Source: UniProtKB
  • negative regulation of cell proliferation Source: Ensembl
  • negative regulation of myeloid cell differentiation Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: MGI
  • negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • positive regulation of apoptotic process Source: Ensembl
  • positive regulation of cartilage development Source: UniProtKB
  • positive regulation of chondrocyte differentiation Source: UniProtKB
  • positive regulation of fat cell differentiation Source: UniProtKB
  • positive regulation of NK T cell differentiation Source: Ensembl
  • positive regulation of ossification Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • post-translational protein modification Source: Reactome
  • protein localization to nucleus Source: Ensembl
  • protein ubiquitination Source: UniProtKB-UniPathway
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8951664. Neddylation.
R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SignaLinkiQ05516.
SIGNORiQ05516.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ZBTB16
Synonyms:PLZF, ZNF145
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12930. ZBTB16.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • nuclear body Source: UniProtKB
  • nuclear speck Source: UniProtKB
  • nucleus Source: UniProtKB
  • plasma membrane Source: Ensembl
  • PML body Source: UniProtKB
  • transcriptional repressor complex Source: MGI

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Skeletal defects, genital hypoplasia, and mental retardation (SGYMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612447
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054912617M → V in SGYMR. 1 PublicationCorresponds to variant dbSNP:rs121434606Ensembl.1
A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei394 – 395Breakpoint for translocation to form PLZF-RAR-alpha oncogene2

Keywords - Diseasei

Disease mutation, Mental retardation, Proto-oncogene

Organism-specific databases

DisGeNETi7704.
MalaCardsiZBTB16.
MIMi612447. phenotype.
OpenTargetsiENSG00000109906.
Orphaneti520. Acute promyelocytic leukemia.
PharmGKBiPA37517.

Polymorphism and mutation databases

BioMutaiZBTB16.
DMDMi90109930.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000477291 – 673Zinc finger and BTB domain-containing protein 16Add BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei76Phosphoserine; by PDPK1Sequence analysis1
Modified residuei184Phosphoserine; by PDPK1Sequence analysis1
Modified residuei197Phosphoserine; by PDPK1Sequence analysis1
Modified residuei256Phosphoserine; by PDPK1Sequence analysis1
Modified residuei282Phosphothreonine; by PDPK1Sequence analysis1
Modified residuei628Phosphoserine; by PDPK1Sequence analysis1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ05516.
PaxDbiQ05516.
PeptideAtlasiQ05516.
PRIDEiQ05516.

PTM databases

iPTMnetiQ05516.
PhosphoSitePlusiQ05516.

Expressioni

Tissue specificityi

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.

Inductioni

By retinoic acid.

Gene expression databases

BgeeiENSG00000109906.
CleanExiHS_ZBTB16.
ExpressionAtlasiQ05516. baseline and differential.
GenevisibleiQ05516. HS.

Organism-specific databases

HPAiCAB004540.
HPA001499.

Interactioni

Subunit structurei

Binds EPN1 (PubMed:11161217). Interacts with ZBTB32 and CUL3 (PubMed:10572087, PubMed:14528312). Interacts with ATP7B (PubMed:16676348).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein C-terminus binding Source: Ensembl
  • protein domain specific binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi113498. 122 interactors.
DIPiDIP-2654N.
IntActiQ05516. 109 interactors.
MINTiMINT-158782.
STRINGi9606.ENSP00000338157.

Structurei

Secondary structure

1673
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi16 – 30Combined sources15
Turni31 – 33Combined sources3
Beta strandi36 – 42Combined sources7
Beta strandi44 – 47Combined sources4
Helixi49 – 55Combined sources7
Helixi57 – 62Combined sources6
Helixi63 – 65Combined sources3
Beta strandi68 – 72Combined sources5
Helixi77 – 89Combined sources13
Helixi96 – 98Combined sources3
Helixi99 – 109Combined sources11
Helixi112 – 125Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BUOX-ray1.90A6-126[»]
1CS3X-ray2.00A7-122[»]
ProteinModelPortaliQ05516.
SMRiQ05516.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05516.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 96BTBPROSITE-ProRule annotationAdd BLAST63

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri404 – 426C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri432 – 454C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri461 – 483C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri518 – 540C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri546 – 568C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri574 – 596C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri602 – 624C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri630 – 652C2H2-type 9PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063338.
HOGENOMiHOG000130800.
HOVERGENiHBG057844.
InParanoidiQ05516.
KOiK10055.
OMAiRELHYVR.
OrthoDBiEOG091G11X6.
PhylomeDBiQ05516.
TreeFamiTF350825.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR013087. Znf_C2H2_type.
IPR013083. Znf_RING/FYVE/PHD.
PfamiView protein in Pfam
PF00651. BTB. 1 hit.
SMARTiView protein in SMART
SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 9 hits.
SUPFAMiSSF54695. SSF54695. 1 hit.
SSF57667. SSF57667. 4 hits.
PROSITEiView protein in PROSITE
PS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform PLZFB (identifier: Q05516-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MDLTKMGMIQ LQNPSHPTGL LCKANQMRLA GTLCDVVIMV DSQEFHAHRT
60 70 80 90 100
VLACTSKMFE ILFHRNSQHY TLDFLSPKTF QQILEYAYTA TLQAKAEDLD
110 120 130 140 150
DLLYAAEILE IEYLEEQCLK MLETIQASDD NDTEATMADG GAEEEEDRKA
160 170 180 190 200
RYLKNIFISK HSSEESGYAS VAGQSLPGPM VDQSPSVSTS FGLSAMSPTK
210 220 230 240 250
AAVDSLMTIG QSLLQGTLQP PAGPEEPTLA GGGRHPGVAE VKTEMMQVDE
260 270 280 290 300
VPSQDSPGAA ESSISGGMGD KVEERGKEGP GTPTRSSVIT SARELHYGRE
310 320 330 340 350
ESAEQVPPPA EAGQAPTGRP EHPAPPPEKH LGIYSVLPNH KADAVLSMPS
360 370 380 390 400
SVTSGLHVQP ALAVSMDFST YGGLLPQGFI QRELFSKLGE LAVGMKSESR
410 420 430 440 450
TIGEQCSVCG VELPDNEAVE QHRKLHSGMK TYGCELCGKR FLDSLRLRMH
460 470 480 490 500
LLAHSAGAKA FVCDQCGAQF SKEDALETHR QTHTGTDMAV FCLLCGKRFQ
510 520 530 540 550
AQSALQQHME VHAGVRSYIC SECNRTFPSH TALKRHLRSH TGDHPYECEF
560 570 580 590 600
CGSCFRDEST LKSHKRIHTG EKPYECNGCG KKFSLKHQLE THYRVHTGEK
610 620 630 640 650
PFECKLCHQR SRDYSAMIKH LRTHNGASPY QCTICTEYCP SLSSMQKHMK
660 670
GHKPEEIPPD WRIEKTYLYL CYV
Length:673
Mass (Da):74,274
Last modified:March 7, 2006 - v2
Checksum:i51F8E361FA31239E
GO
Isoform PLZFA (identifier: Q05516-2) [UniParc]FASTAAdd to basket

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

Show »
Length:550
Mass (Da):61,601
Checksum:i1051E16C91FDC089
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti580G → D in CAA79489 (PubMed:8384553).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054912617M → V in SGYMR. 1 PublicationCorresponds to variant dbSNP:rs121434606Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006896255 – 377Missing in isoform PLZFA. CuratedAdd BLAST123

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8367.1. [Q05516-1]
PIRiS36336.
RefSeqiNP_001018011.1. NM_001018011.1. [Q05516-1]
NP_005997.2. NM_006006.4. [Q05516-1]
XP_016873746.1. XM_017018257.1. [Q05516-1]
XP_016873747.1. XM_017018258.1. [Q05516-1]
XP_016873748.1. XM_017018259.1. [Q05516-1]
UniGeneiHs.591945.
Hs.682144.

Genome annotation databases

EnsembliENST00000335953; ENSP00000338157; ENSG00000109906. [Q05516-1]
ENST00000392996; ENSP00000376721; ENSG00000109906. [Q05516-1]
GeneIDi7704.
KEGGihsa:7704.
UCSCiuc001pop.4. human. [Q05516-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiZBT16_HUMAN
AccessioniPrimary (citable) accession number: Q05516
Secondary accession number(s): Q8TAL4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: March 7, 2006
Last modified: August 30, 2017
This is version 189 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families