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Aliases for ZBTB49 Gene

Aliases for ZBTB49 Gene

  • Zinc Finger And BTB Domain Containing 49 2 3 5
  • Zinc Finger Protein 509 2 3 4
  • ZNF509 3 4
  • Zinc Finger And BTB Domain-Containing Protein 49 3

External Ids for ZBTB49 Gene

Previous HGNC Symbols for ZBTB49 Gene

  • ZNF509

Summaries for ZBTB49 Gene

GeneCards Summary for ZBTB49 Gene

ZBTB49 (Zinc Finger And BTB Domain Containing 49) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and transcription factor binding. An important paralog of this gene is MYNN.

UniProtKB/Swiss-Prot for ZBTB49 Gene

  • Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription.

  • Isoform 1: Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive).

  • Isoform 3: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB49 Gene

Genomics for ZBTB49 Gene

Regulatory Elements for ZBTB49 Gene

Enhancers for ZBTB49 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
GH04F004308 1 ENCODE 9.1 +19.2 19167 2.0 ZNF664 LYAR ZBTB49 GC04M004314
GH04F004288 0.4 ENCODE 8.3 -0.2 -211 2.4 HDGF PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A GLI4 DMAP1 ZNF48 LYAR ZBTB49 GC04P004281
GH04F004323 1.1 Ensembl ENCODE 6.4 +33.9 33908 1.6 HDAC1 ATF1 ARNT PTRF RARA GATA2 ZBTB2 ZEB2 CREB3 KLF16 LYAR TMEM128 ZBTB49 ENSG00000248516 PIR59167
GH04F003460 0.8 ENCODE 4.6 -827.5 -827487 4.1 PKNOX1 ZFP64 ARID4B SIN3A RAD21 EGR1 RCOR1 ZNF217 SREBF1 MBD2 DOK7 ENSG00000261643 ZBTB49 HTT LOC105374354
GH04F004540 1.3 FANTOM5 ENCODE 1.8 +251.6 251645 2.6 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC LINC01396 STX18-IT1 LDHAP1 RN7SKP113 FAM86EP TMEM128 NSG1 STX18 ZBTB49 STX18-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZBTB49 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001235376 203 2001 HDGF PKNOX1 ATF1 CREB3L1 WRNIP1 ARID4B SIN3A GLI4 DMAP1 ETS1

Genomic Location for ZBTB49 Gene

Chromosome:
4
Start:
4,290,197 bp from pter
End:
4,321,786 bp from pter
Size:
31,590 bases
Orientation:
Plus strand

Genomic View for ZBTB49 Gene

Genes around ZBTB49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB49 Gene

Proteins for ZBTB49 Gene

  • Protein details for ZBTB49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSB9-ZBT49_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 49
    Protein Accession:
    Q6ZSB9
    Secondary Accessions:
    • A8K936
    • Q32ML0
    • Q59FJ4
    • Q5EBN0
    • Q8TB80

    Protein attributes for ZBTB49 Gene

    Size:
    765 amino acids
    Molecular mass:
    85061 Da
    Quaternary structure:
    • Isoform 1 interacts with EP300 and KAT5/Tip60. The interaction with EP300 is direct and leads to synergistic induction of CDKN1A. On the CDKN1A promoter, forms a complex with ZBTB17/Miz-1; this interaction leads to additive CDKN1A transactivation. Isoform 3 also interacts with ZBTB17; this interaction may block ZBTB17 repressor activity.
    SequenceCaution:
    • Sequence=AAH16477.1; Type=Erroneous termination; Positions=372; Note=Translated as Glu.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZBTB49 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB49 Gene

Post-translational modifications for ZBTB49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB49 Gene

Domains & Families for ZBTB49 Gene

Gene Families for ZBTB49 Gene

Suggested Antigen Peptide Sequences for ZBTB49 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZSB9

UniProtKB/Swiss-Prot:

ZBT49_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 7 C2H2-type zinc fingers.
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 7 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZBTB49: view

Function for ZBTB49 Gene

Molecular function for ZBTB49 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription.
UniProtKB/Swiss-Prot Function:
Isoform 1: Binds CDKN1A promoter and activates its transcription; this activity is further potentiated in the presence of EP300 (synergistic) and ZBTB17/Miz-1 (additive).
UniProtKB/Swiss-Prot Function:
Isoform 3: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter.
UniProtKB/Swiss-Prot Induction:
Induced by the DNA-damaging agent etoposide. This induction is mediated by TP53 at the transcriptional level.

Gene Ontology (GO) - Molecular Function for ZBTB49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001223 transcription coactivator binding IPI 25245946
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008134 transcription factor binding IPI 25245946
genes like me logo Genes that share ontologies with ZBTB49: view
genes like me logo Genes that share phenotypes with ZBTB49: view

Animal Model Products

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 ZBTB49 Gene

Localization for ZBTB49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB49 Gene

Isoform 1: Cytoplasm. Nucleus. Note=Predominantly located in the nucleus. {ECO:0000269 PubMed:25245946}.
Isoform 3: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZBTB49 Gene COMPARTMENTS Subcellular localization image for ZBTB49 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for ZBTB49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25245946
GO:0005737 cytoplasm IEA,IDA 25245946
genes like me logo Genes that share ontologies with ZBTB49: view

Pathways & Interactions for ZBTB49 Gene

SuperPathways for ZBTB49 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IDA 25245946
GO:0008285 negative regulation of cell proliferation IDA 25245946
genes like me logo Genes that share ontologies with ZBTB49: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB49 Gene

Transcripts for ZBTB49 Gene

Unigene Clusters for ZBTB49 Gene

Zinc finger and BTB domain containing 49:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB49 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1:
SP2: - -
SP3: - -
SP4: - - -
SP5: - - - -

Relevant External Links for ZBTB49 Gene

GeneLoc Exon Structure for
ZBTB49
ECgene alternative splicing isoforms for
ZBTB49

Expression for ZBTB49 Gene

mRNA expression in normal human tissues for ZBTB49 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB49 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZBTB49 Gene:

ZBTB49

SOURCE GeneReport for Unigene cluster for ZBTB49 Gene:

Hs.419997

mRNA Expression by UniProt/SwissProt for ZBTB49 Gene:

Q6ZSB9-ZBT49_HUMAN
Tissue specificity: Highly expressed in normal epidermis and in other epithelial tissues, including in colon and lung. Tends to be down-regulated in colon, lung and skin cancer tissues.
genes like me logo Genes that share expression patterns with ZBTB49: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for ZBTB49 Gene

Orthologs for ZBTB49 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB49 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia ZBTB49 34 35
  • 82.24 (n)
cow
(Bos Taurus)
Mammalia ZBTB49 34 35
  • 80.18 (n)
mouse
(Mus musculus)
Mammalia Zbtb49 34 16 35
  • 77.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB49 35
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb49 34
  • 70.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB49 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB49 34 35
  • 72.18 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB49 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb49 34
  • 59.06 (n)
Str.10598 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24174 34
zebrafish
(Danio rerio)
Actinopterygii ZBTB49 35
  • 72 (a)
OneToOne
zbtb49 34
  • 59.23 (n)
Species where no ortholog for ZBTB49 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 ZBTB49 Gene

ENSEMBL:
Gene Tree for ZBTB49 (if available)
TreeFam:
Gene Tree for ZBTB49 (if available)

Paralogs for ZBTB49 Gene

Paralogs for ZBTB49 Gene

(204) SIMAP similar genes for ZBTB49 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ZBTB49 Gene

genes like me logo Genes that share paralogs with ZBTB49: view

Variants for ZBTB49 Gene

Sequence variations from dbSNP and Humsavar for ZBTB49 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10027502 -- 4,304,087(+) CATTT(A/G)AATAT intron-variant
rs10032289 -- 4,321,292(+) CTGCA(A/G)AATGA nc-transcript-variant, reference, synonymous-codon
rs10033534 -- 4,312,111(+) GCATG(A/T)CACCT intron-variant
rs1048898 -- 4,290,105(-) GGCGC(A/T)GGGCT upstream-variant-2KB, utr-variant-5-prime
rs1048899 -- 4,290,098(-) GGCTG(A/G)CGGCG upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ZBTB49 Gene

Variant ID Type Subtype PubMed ID
esv2759219 CNV gain 17122850
esv34196 OTHER inversion 12058347
nsv1001885 CNV gain 25217958
nsv1013824 CNV loss 25217958
nsv10437 CNV gain 18304495
nsv4205 CNV insertion 18451855

Variation tolerance for ZBTB49 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.35; 70.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB49 Gene

Disorders for ZBTB49 Gene

Relevant External Links for ZBTB49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB49

No disorders were found for ZBTB49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZBTB49 Gene

Publications for ZBTB49 Gene

  1. Two ZNF509 (ZBTB49) isoforms induce cell-cycle arrest by activating transcription of p21/CDKN1A and RB upon exposure to genotoxic stress. (PMID: 25245946) Jeon B.N. … Hur M.W. (Nucleic Acids Res. 2014) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M. … Lindquist S. (Cell 2012) 3 64

Products for ZBTB49 Gene

Sources for ZBTB49 Gene

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