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Aliases for ZBTB1 Gene

Aliases for ZBTB1 Gene

  • Zinc Finger And BTB Domain Containing 1 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 1 3
  • KIAA0997 4
  • ZNF909 3

External Ids for ZBTB1 Gene

Previous GeneCards Identifiers for ZBTB1 Gene

  • GC14P058765
  • GC14P062961
  • GC14P062960
  • GC14P064040
  • GC14P064971
  • GC14P045143

Summaries for ZBTB1 Gene

GeneCards Summary for ZBTB1 Gene

ZBTB1 (Zinc Finger And BTB Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is ZBTB2.

UniProtKB/Swiss-Prot for ZBTB1 Gene

  • Acts as a transcriptional repressor (PubMed:20797634). Represses cAMP-responsive element (CRE)-mediated transcriptional activation (PubMed:21706167). In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis (PubMed:24657165). Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB1 Gene

Genomics for ZBTB1 Gene

Regulatory Elements for ZBTB1 Gene

Enhancers for ZBTB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G063639 1.4 FANTOM5 ENCODE 35.6 -861.9 -861917 3.7 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB1 LOC102723809 WDR89 GCATP1 SYNE2 RNU6-1162P
GH14G064499 2 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +1.0 1039 9.9 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 LOC102723809 ZBTB1 PPP1R36 AKAP5 HSPA2 TEX21P ENSG00000214770 ZBTB25
GH14G065351 1.4 Ensembl ENCODE dbSUPER 26.7 +851.0 851018 6.8 PKNOX1 GLIS2 ELK1 GATA2 ZNF548 FOS SP3 ZHX2 JUNB REST ZBTB1 LOC102723809 ZBTB25 LOC100506321 FUT8 LINC02324 GC14M065336 LOC105370537
GH14G064444 1.7 FANTOM5 Ensembl ENCODE 17.9 -57.2 -57197 4.6 HDGF PKNOX1 FOXA2 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZBTB1 PLEKHG3 ESR2 AKAP5 ZBTB25 ENSG00000258824 ENSG00000272909
GH14G064714 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +217.4 217449 14.0 PKNOX1 FOXA2 ZFP64 SIN3A YY1 ETS1 TCF12 GLIS2 FOS ZNF263 PLEKHG3 ZBTB1 PPP1R36 MAX ZBTB25 CHURC1 GC14P064746 PIR60020
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZBTB1 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069622 1088 4001 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ZBTB1 Gene

Chromosome:
14
Start:
64,503,712 bp from pter
End:
64,533,690 bp from pter
Size:
29,979 bases
Orientation:
Plus strand

Genomic View for ZBTB1 Gene

Genes around ZBTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB1 Gene

Proteins for ZBTB1 Gene

  • Protein details for ZBTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2K1-ZBTB1_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 1
    Protein Accession:
    Q9Y2K1
    Secondary Accessions:
    • A8K6S8
    • Q86SW8

    Protein attributes for ZBTB1 Gene

    Size:
    713 amino acids
    Molecular mass:
    82016 Da
    Quaternary structure:
    • Homodimer. Homooligomer. Isoform 1 and isoform 2 can homodimerize. Heterodimer of isoform 1 and isoform 2. Interacts (via BTB domain) with TRIM28 (unphosphorylated or phosphorylated form) (PubMed:24657165).
    SequenceCaution:
    • Sequence=BAA76841.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZBTB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB1 Gene

Post-translational modifications for ZBTB1 Gene

  • Sumoylated with SUMO2 at Lys-328 and to a lesser extent at Lys-265. Sumoylation inhibits its transcriptional repression activity and regulates its subcellular localization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ZBTB1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ZBTB1

No data available for DME Specific Peptides for ZBTB1 Gene

Domains & Families for ZBTB1 Gene

Gene Families for ZBTB1 Gene

Suggested Antigen Peptide Sequences for ZBTB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2K1

UniProtKB/Swiss-Prot:

ZBTB1_HUMAN :
  • Both the BTB domain and C2H2-type motifs are necessary for transcriptional repression activity. The BTB domain is also necessary for oligomerization and efficient sumoylation. The hydrophobic cluster preceding Lys-328 enhanced sumoylation efficiency (PubMed:20797634).
Domain:
  • Both the BTB domain and C2H2-type motifs are necessary for transcriptional repression activity. The BTB domain is also necessary for oligomerization and efficient sumoylation. The hydrophobic cluster preceding Lys-328 enhanced sumoylation efficiency (PubMed:20797634).
  • The UBZ-type zinc finger domain is required for targeting ZBTB1 to UV damage sites and for PCNA monoubiquitination. UBZ-type zinc finger domain mediates binding to Lys-63-linked polyubiquitin chains (in vitro).
genes like me logo Genes that share domains with ZBTB1: view

Function for ZBTB1 Gene

Molecular function for ZBTB1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor (PubMed:20797634). Represses cAMP-responsive element (CRE)-mediated transcriptional activation (PubMed:21706167). In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis (PubMed:24657165). Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity).

Gene Ontology (GO) - Molecular Function for ZBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 24657165
GO:0042803 protein homodimerization activity IDA 22753936
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB1: view
genes like me logo Genes that share phenotypes with ZBTB1: view

Animal Model Products

CRISPR Products

miRNA for ZBTB1 Gene

miRTarBase miRNAs that target ZBTB1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB1 Gene

Localization for ZBTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB1 Gene

Nucleus. Nucleus, nucleoplasm. Note=Localized in dot-like structures in the nucleus (PubMed:21706167). Colocalized with SMRT in nuclear bodies (PubMed:20797634). The sumoylated form is preferentially located in the nucleoplasm outside the nuclear bodies(PubMed:20797634). {ECO:0000269 PubMed:20797634, ECO:0000269 PubMed:21706167}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZBTB1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21706167
GO:0005654 nucleoplasm IEA,IDA 20797634
GO:0016604 nuclear body IDA 20797634
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with ZBTB1: view

Pathways & Interactions for ZBTB1 Gene

SuperPathways for ZBTB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 20797634
GO:0002376 immune system process IEA --
GO:0002711 positive regulation of T cell mediated immunity ISS --
GO:0006281 DNA repair IMP 24657165
GO:0006338 chromatin remodeling IMP 24657165
genes like me logo Genes that share ontologies with ZBTB1: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB1 Gene

Transcripts for ZBTB1 Gene

Unigene Clusters for ZBTB1 Gene

Zinc finger and BTB domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e
SP1: - - - -
SP2: -
SP3:
SP4: - - - - - - -
SP5: - - -

Relevant External Links for ZBTB1 Gene

GeneLoc Exon Structure for
ZBTB1
ECgene alternative splicing isoforms for
ZBTB1

Expression for ZBTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZBTB1 Gene

Protein differential expression in normal tissues from HIPED for ZBTB1 Gene

This gene is overexpressed in CD8 Tcells (36.9), Blymphocyte (14.6), and Placenta (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZBTB1 Gene



Protein tissue co-expression partners for ZBTB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZBTB1 Gene:

ZBTB1

SOURCE GeneReport for Unigene cluster for ZBTB1 Gene:

Hs.605143

Evidence on tissue expression from TISSUES for ZBTB1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Eye(4.1)
  • Lung(2.8)
  • Kidney(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ZBTB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB1 Gene

Orthologs for ZBTB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB1 34 35
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia ZBTB1 34 35
  • 94.29 (n)
cow
(Bos Taurus)
Mammalia ZBTB1 34 35
  • 94.16 (n)
mouse
(Mus musculus)
Mammalia Zbtb1 34 16 35
  • 89.33 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB1 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb1 34
  • 85.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB1 34 35
  • 80.44 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb1 34
  • 66.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8507 34
zebrafish
(Danio rerio)
Actinopterygii zbtb1 34 35
  • 57.75 (n)
Dr.26061 34
Species where no ortholog for ZBTB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZBTB1 Gene

ENSEMBL:
Gene Tree for ZBTB1 (if available)
TreeFam:
Gene Tree for ZBTB1 (if available)

Paralogs for ZBTB1 Gene

Paralogs for ZBTB1 Gene

genes like me logo Genes that share paralogs with ZBTB1: view

Variants for ZBTB1 Gene

Sequence variations from dbSNP and Humsavar for ZBTB1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000031367 -- 64,526,083(+) AAAGT(G/T)CTGGG intron-variant
rs1000134756 -- 64,533,340(+) ATAAG(A/G)AGGTA intron-variant, utr-variant-3-prime
rs1000184916 -- 64,532,968(+) GATTA(C/T)TTTGT intron-variant, utr-variant-3-prime
rs1000220281 -- 64,519,066(+) AGTGT(G/T)TGGAG intron-variant
rs1000302372 -- 64,505,835(+) TTCTT(C/G)ATTGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ZBTB1 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV deletion 23290073
esv3634753 CNV loss 21293372
nsv1126366 CNV deletion 24896259
nsv521823 CNV loss 19592680
nsv826966 CNV gain 20364138

Variation tolerance for ZBTB1 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB1 Gene

Disorders for ZBTB1 Gene

Relevant External Links for ZBTB1

Genetic Association Database (GAD)
ZBTB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB1

No disorders were found for ZBTB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZBTB1 Gene

Publications for ZBTB1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Transcriptional repressor ZBTB1 promotes chromatin remodeling and translesion DNA synthesis. (PMID: 24657165) Kim H. … D'Andrea A.D. (Mol. Cell 2014) 3 4 64
  3. Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. (PMID: 22753936) Punwani D. … Puck J.M. (J. Immunol. 2012) 3 4 64
  4. Novel human BTB/POZ domain-containing zinc finger protein ZBTB1 inhibits transcriptional activities of CRE. (PMID: 21706167) Liu Q. … Wang J.C. (Mol. Cell. Biochem. 2011) 3 4 64
  5. Site-specific identification of SUMO-2 targets in cells reveals an inverted SUMOylation motif and a hydrophobic cluster SUMOylation motif. (PMID: 20797634) Matic I. … Vertegaal A.C. (Mol. Cell 2010) 3 4 64

Products for ZBTB1 Gene

Sources for ZBTB1 Gene

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