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Aliases for ZBTB48 Gene

Aliases for ZBTB48 Gene

  • Zinc Finger And BTB Domain Containing 48 2 3 5
  • HKR3 3 4 4
  • Zinc Finger And BTB Domain-Containing Protein 48 3 4
  • Telomeric Zinc Finger-Associated Protein 2 3
  • Krueppel-Related Zinc Finger Protein 3 3 4
  • GLI-Kruppel Family Member HKR3 2 3
  • Zinc Finger Protein 855 3 4
  • ZNF855 3 4
  • TZAP 3 4
  • Telomere Zinc Finger-Associated Protein 3
  • Pp9964 3

External Ids for ZBTB48 Gene

Previous HGNC Symbols for ZBTB48 Gene

  • HKR3

Previous GeneCards Identifiers for ZBTB48 Gene

  • GC01P006562
  • GC01P006640
  • GC01P005788

Summaries for ZBTB48 Gene

GeneCards Summary for ZBTB48 Gene

ZBTB48 (Zinc Finger And BTB Domain Containing 48) is a Protein Coding gene. Diseases associated with ZBTB48 include Neuroblastoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA binding transcription factor activity. An important paralog of this gene is RREB1.

UniProtKB/Swiss-Prot for ZBTB48 Gene

  • Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5-TTAGGG-3 repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891).

Additional gene information for ZBTB48 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 ZBTB48 Gene

Genomics for ZBTB48 Gene

GeneHancer (GH) Regulatory Elements for ZBTB48 Gene

Promoters and enhancers for ZBTB48 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
GH01J006578 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 660.3 +1.1 1088 4.2 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZBTB48 THAP3 GC01M006590 TAS1R1
GH01J006579 Enhancer 0.6 Ensembl dbSUPER 650.7 -1.7 -1690 0.2 XRCC5 EBF1 ZBTB48 PIR53364 TAS1R1
GH01J006700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.4 +121.4 121426 2.1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 NBN DNAJC11 THAP3 ZBTB48 NOL9 RPL22 PHF13 KLHL21 GC01M006638
GH01J006233 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 30.1 -345.0 -345000 3.4 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 POLR2B E2F8 SP3 ICMT LINC00337 ZBTB48 THAP3 NOL9 HES3 RPL22 PHF13 GPR153 RNF207
GH01J006783 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.8 +205.2 205197 3.6 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 CAMTA1 CAMTA1-DT PHF13 ZBTB48 NOL9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZBTB48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZBTB48 gene promoter:

Genomic Locations for ZBTB48 Gene

Genomic Locations for ZBTB48 Gene
chr1:6,579,991-6,589,280
(GRCh38/hg38)
Size:
9,290 bases
Orientation:
Plus strand
chr1:6,640,061-6,649,340
(GRCh37/hg19)

Genomic View for ZBTB48 Gene

Genes around ZBTB48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB48 Gene

Proteins for ZBTB48 Gene

  • Protein details for ZBTB48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10074-TZAP_HUMAN
    Recommended name:
    Telomere zinc finger-associated protein
    Protein Accession:
    P10074
    Secondary Accessions:
    • Q5SY19

    Protein attributes for ZBTB48 Gene

    Size:
    688 amino acids
    Molecular mass:
    77054 Da
    Quaternary structure:
    • Interacts with EP300 (PubMed:24382891).

    Three dimensional structures from OCA and Proteopedia for ZBTB48 Gene

neXtProt entry for ZBTB48 Gene

Post-translational modifications for ZBTB48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB48 Gene

Domains & Families for ZBTB48 Gene

Gene Families for ZBTB48 Gene

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

Protein Domains for ZBTB48 Gene

Graphical View of Domain Structure for InterPro Entry

P10074

UniProtKB/Swiss-Prot:

TZAP_HUMAN :
  • The C2H2-type zinc fingers mediate binding to the telomeric double-stranded 5-TTAGGG-3 repeats (PubMed:28082411). The last C2H2-type zinc finger is required for telomeric-binding (PubMed:28500257).
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Domain:
  • The C2H2-type zinc fingers mediate binding to the telomeric double-stranded 5-TTAGGG-3 repeats (PubMed:28082411). The last C2H2-type zinc finger is required for telomeric-binding (PubMed:28500257).
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZBTB48: view

Function for ZBTB48 Gene

Molecular function for ZBTB48 Gene

UniProtKB/Swiss-Prot Function:
Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5-TTAGGG-3 repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891).

Phenotypes From GWAS Catalog for ZBTB48 Gene

Gene Ontology (GO) - Molecular Function for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003691 double-stranded telomeric DNA binding IDA 28082411
GO:0003700 DNA binding transcription factor activity TAS 8661141
genes like me logo Genes that share ontologies with ZBTB48: view
genes like me logo Genes that share phenotypes with ZBTB48: view

Animal Model Products

miRNA for ZBTB48 Gene

miRTarBase miRNAs that target ZBTB48

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB48 Gene

Localization for ZBTB48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB48 Gene

Nucleus. Chromosome, telomere. Note=Directly binds the telomeric double-stranded 5-TTAGGG-3 repeat (PubMed:28500257, PubMed:28082411). According to a report, preferentially binds to long telomeres that have a low concentration of shelterin complex, competing with the telomeric repeat binding factors TERF1 and TERF2 (PubMed:28082411). According to another report, binds telomeres regardless of their length (PubMed:28500257). {ECO:0000269 PubMed:28082411, ECO:0000269 PubMed:28500257}.

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 ZBTB48 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 28082411
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ZBTB48: view

Pathways & Interactions for ZBTB48 Gene

SuperPathways for ZBTB48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0010833 telomere maintenance via telomere lengthening IMP 28082411
GO:0045893 positive regulation of transcription, DNA-templated IMP 28500257
genes like me logo Genes that share ontologies with ZBTB48: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB48 Gene

Drugs & Compounds for ZBTB48 Gene

No Compound Related Data Available

Transcripts for ZBTB48 Gene

Unigene Clusters for ZBTB48 Gene

Zinc finger and BTB domain containing 48:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB48 Gene

No ASD Table

Relevant External Links for ZBTB48 Gene

GeneLoc Exon Structure for
ZBTB48
ECgene alternative splicing isoforms for
ZBTB48

Expression for ZBTB48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZBTB48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZBTB48 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for ZBTB48 Gene

This gene is overexpressed in Heart (31.1), Adipocyte (15.2), Adrenal (11.7), and NK cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZBTB48 Gene



Protein tissue co-expression partners for ZBTB48 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB48 Gene:

ZBTB48

SOURCE GeneReport for Unigene cluster for ZBTB48 Gene:

Hs.502330

mRNA Expression by UniProt/SwissProt for ZBTB48 Gene:

P10074-TZAP_HUMAN
Tissue specificity: Detected in adrenal gland and neuroblastoma.

Evidence on tissue expression from TISSUES for ZBTB48 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with ZBTB48: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB48 Gene

Orthologs for ZBTB48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB48 34 33
  • 99.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZBTB48 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZBTB48 34 33
  • 89.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB48 34 33
  • 89.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb48 33
  • 87.47 (n)
mouse
(Mus musculus)
Mammalia Zbtb48 16 34 33
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB48 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB48 34 33
  • 72.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZBTB48 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb48 33
  • 63.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12958 33
zebrafish
(Danio rerio)
Actinopterygii zbtb48 34 33
  • 59.2 (n)
OneToOne
Species where no ortholog for ZBTB48 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 ZBTB48 Gene

ENSEMBL:
Gene Tree for ZBTB48 (if available)
TreeFam:
Gene Tree for ZBTB48 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB48: view image

Paralogs for ZBTB48 Gene

Variants for ZBTB48 Gene

Sequence variations from dbSNP and Humsavar for ZBTB48 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000024691 -- 6,579,158(+) G/A upstream_transcript_variant
rs1000244169 -- 6,588,420(+) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1001155888 -- 6,584,472(+) T/C intron_variant
rs1001371752 -- 6,583,944(+) T/C intron_variant
rs1001434005 -- 6,584,548(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ZBTB48 Gene

Variant ID Type Subtype PubMed ID
nsv472111 CNV novel sequence insertion 20440878
nsv545269 CNV loss 21841781
nsv7880 CNV gain+loss 18304495
nsv831536 CNV loss 17160897
nsv831647 CNV loss 17160897
nsv955151 CNV deletion 24416366

Variation tolerance for ZBTB48 Gene

Residual Variation Intolerance Score: 2.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB48 Gene

Disorders for ZBTB48 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZBTB48 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZBTB48

genes like me logo Genes that share disorders with ZBTB48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBTB48 Gene

Publications for ZBTB48 Gene

  1. TZAP: A telomere-associated protein involved in telomere length control. (PMID: 28082411) Li JS … Lazzerini Denchi E (Science (New York, N.Y.) 2017) 2 3 4 58
  2. The GLI-Kruppel family of human genes. (PMID: 2850480) Ruppert JM … Vogelstein B (Molecular and cellular biology 1988) 2 3 4 58
  3. ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator. (PMID: 28500257) Jahn A … Kappei D (EMBO reports 2017) 3 4 58
  4. Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene. (PMID: 24382891) Yoon JH … Hur MW (The Journal of biological chemistry 2014) 3 4 58
  5. 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

Products for ZBTB48 Gene

Sources for ZBTB48 Gene

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