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 4
  • KIAA0997 2 4
  • ZNF909 2 3
  • ZBTB1 5

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. Diseases associated with ZBTB1 include Parkinson Disease 7, Autosomal Recessive Early-Onset. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is HIC2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ZBTB1 Gene

Genomics for ZBTB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZBTB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB1

Top Transcription factor binding sites by QIAGEN in the ZBTB1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-5
  • GATA-2

Genomic Locations for ZBTB1 Gene

Latest Assembly
chr14:64,503,712-64,533,693
(GRCh38/hg38)
Size:
29,982 bases
Orientation:
Plus strand

Previous Assembly
chr14:64,971,488-65,000,411
(GRCh37/hg19 by Entrez Gene)
Size:
28,924 bases
Orientation:
Plus strand

chr14:64,970,430-65,000,408
(GRCh37/hg19 by Ensembl)
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=Extended N-terminus.; 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

Antibodies for research

  • Abcam antibodies for ZBTB1
  • Boster Bio 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZBTB1 Gene

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for ZBTB1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger and BTB domain-containing protein 1 (ZBTB1_HUMAN)

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).

Phenotypes From GWAS Catalog for ZBTB1 Gene

Gene Ontology (GO) - Molecular Function for ZBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 24657165
GO:0042803 protein homodimerization activity IDA 22753936
genes like me logo Genes that share ontologies with ZBTB1: view
genes like me logo Genes that share phenotypes with ZBTB1: view

miRNA for ZBTB1 Gene

miRTarBase miRNAs that target ZBTB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB1

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
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IDA 20797634
GO:0005813 centrosome IDA --
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

PathCards logo

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 by RNA polymerase II 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

Drugs & Compounds for ZBTB1 Gene

No Compound Related Data Available

Transcripts for ZBTB1 Gene

mRNA/cDNA for ZBTB1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB1

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

Expression for ZBTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3)
  • Kidney(2.6)
  • Spleen(2.3)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with ZBTB1: view

Primer products for research

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 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZBTB1 30 31
  • 94.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZBTB1 30 31
  • 94.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zbtb1 30 17 31
  • 89.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZBTB1 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zbtb1 30
  • 85.72 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB1 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZBTB1 30 31
  • 80.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZBTB1 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zbtb1 30
  • 66.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8507 30
Zebrafish
(Danio rerio)
Actinopterygii zbtb1 30 31
  • 57.75 (n)
OneToOne
Dr.26061 30
Species where no ortholog for ZBTB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB1: view image

Paralogs for ZBTB1 Gene

(26) SIMAP similar genes for ZBTB1 Gene using alignment to 4 proteins:

  • ZBTB1_HUMAN
  • G3V2I8_HUMAN
  • G3V3N0_HUMAN
  • G3V447_HUMAN
genes like me logo Genes that share paralogs with ZBTB1: view

Variants for ZBTB1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZBTB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ZBTB1 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB1 Gene

Disorders for ZBTB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZBTB1 Gene - From: COP

Disorder Aliases PubMed IDs
parkinson disease 7, autosomal recessive early-onset
  • park7
- elite association - COSMIC cancer census association via MalaCards
Search ZBTB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZBTB1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZBTB1: view

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Transcriptional repressor ZBTB1 promotes chromatin remodeling and translesion DNA synthesis. (PMID: 24657165) Kim H … D'Andrea AD (Molecular cell 2014) 3 4
  3. Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. (PMID: 22753936) Punwani D … Puck JM (Journal of immunology (Baltimore, Md. : 1950) 2012) 3 4
  4. Novel human BTB/POZ domain-containing zinc finger protein ZBTB1 inhibits transcriptional activities of CRE. (PMID: 21706167) Liu Q … Wang JC (Molecular and cellular biochemistry 2011) 3 4
  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 AC (Molecular cell 2010) 3 4

Products for ZBTB1 Gene

Sources for ZBTB1 Gene