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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. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription factor binding. An important paralog of this gene is ZBTB17.

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.

Additional gene information for ZBTB49 Gene

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

Genomics for ZBTB49 Gene

GeneHancer (GH) Regulatory Elements for ZBTB49 Gene

Promoters and enhancers for ZBTB49 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I004288 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.3 -0.2 -209 2.4 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 GLI4 ETS1 POLR2B GLIS2 LYAR ZBTB49 GC04P004281
GH04I003953 Promoter/Enhancer 1.5 Ensembl ENCODE 14.8 -335.2 -335177 4 HDGF PKNOX1 CLOCK ATF1 MLX ARID4B SIN3A GLIS2 ZNF207 FOS FAM86EP ENSG00000253917 GC04P003954 LOC105374358 ENSG00000271977 ZBTB49 ENPP7P9 STX18 TMEM128
GH04I004323 Enhancer 1 Ensembl ENCODE 21.7 +33.9 33907 1.6 HDAC1 ATF1 ARNT ZBTB40 TCF12 ZNF766 GATA2 CAVIN1 ZBTB2 NCOA1 LYAR ZBTB49 TMEM128 ENSG00000248516 PIR59167
GH04I003765 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.1 -524.3 -524262 1.7 RING1 CTCF SAP130 ARID4B ZNF48 ZEB1 HIC1 ZNF335 ZFHX2 CTBP1 ADRA2C NOP14-AS1 STX18-AS1 ZBTB49 STX18 ENSG00000250986
GH04I003368 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -919.8 -919750 3.1 RING1 MXI1 KLF1 ZBTB21 JUN MAX SIN3A BMI1 FEZF1 ZIC2 RGS12 PIR55428 GC04M003368 NOP14-AS1 TMEM128 FAM193A ZBTB49 PIR36896
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZBTB49 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ZBTB49 Gene

Genomic Locations for ZBTB49 Gene
chr4:4,290,197-4,321,786
(GRCh38/hg38)
Size:
31,590 bases
Orientation:
Plus strand
chr4:4,291,924-4,323,513
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for ZBTB49 Gene

Domains & Families for ZBTB49 Gene

Gene Families for ZBTB49 Gene

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

Suggested Antigen Peptide Sequences for ZBTB49 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZSB9

UniProtKB/Swiss-Prot:

ZBT49_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
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.

Phenotypes From GWAS Catalog for ZBTB49 Gene

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

Inhibitory RNA 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
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 ZBTB49 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZBTB49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25245946
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 25245946
GO:0005829 cytosol IDA --
GO:0015630 microtubule cytoskeleton IDA --
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

Drugs & Compounds for ZBTB49 Gene

No Compound Related Data Available

Transcripts for ZBTB49 Gene

Unigene Clusters for ZBTB49 Gene

Zinc finger and BTB domain containing 49:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ZBTB49 Gene

  • Nervous system(4.2)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia ZBTB49 33 34
  • 82.24 (n)
cow
(Bos Taurus)
Mammalia ZBTB49 33 34
  • 80.18 (n)
mouse
(Mus musculus)
Mammalia Zbtb49 33 16 34
  • 77.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB49 34
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb49 33
  • 70.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB49 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB49 33 34
  • 72.18 (n)
lizard
(Anolis carolinensis)
Reptilia ZBTB49 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb49 33
  • 59.06 (n)
Str.10598 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24174 33
zebrafish
(Danio rerio)
Actinopterygii ZBTB49 34
  • 72 (a)
OneToOne
zbtb49 33
  • 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 Variation AA Info Type
rs1000133948 -- 4,319,132(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000159393 -- 4,292,113(+) C/G intron_variant
rs1000223465 -- 4,296,894(+) G/A intron_variant
rs1000312132 -- 4,307,904(+) C/T intron_variant
rs1000466940 -- 4,291,941(+) C/T intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 BN … Hur MW (Nucleic acids research 2014) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. ZNF509S1 downregulates PUMA by inhibiting p53K382 acetylation and p53-DNA binding. (PMID: 28757384) Jeon BN … Hur MW (Biochimica et biophysica acta 2017) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for ZBTB49 Gene

Sources for ZBTB49 Gene

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