Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ZBTB48 Gene

Aliases for ZBTB48 Gene

  • Zinc Finger And BTB Domain Containing 48 2 3 5
  • 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
  • HKR3 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. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZBTB17.

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

Regulatory Elements for ZBTB48 Gene

Enhancers for ZBTB48 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
GH01H006598 1.8 FANTOM5 ENCODE dbSUPER 14.3 +22.2 22221 6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 THAP3 KLHL21 RPL22 NOL9 HES3 LOC102725193 ZBTB48 PHF13 PIR47122 PIR44711
GH01H006204 1.4 ENCODE dbSUPER 13 -374.3 -374273 2 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 THAP3 RNF207 HES3 PHF13 ZBTB48 RPL22 NOL9 LOC102724450
GH01H005990 1.7 FANTOM5 ENCODE dbSUPER 10.3 -586.8 -586824 4 HDGF PKNOX1 ARID4B SIN3A ZNF143 ZNF207 FOS SP3 CEBPZ MXD4 THAP3 TNFRSF25 PHF13 NPHP4 NOL9 RPL22 ZBTB48 KCNAB2 CHD5 GC01M006038
GH01H007264 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +686.7 686704 3 PKNOX1 MLX ARID4B SIN3A YY1 ZNF548 FOS JUNB TSHZ1 REST NOL9 LOC101928836 THAP3 ZBTB48 GC01M007245 CAMTA1-IT1
GH01H006024 1.7 FANTOM5 ENCODE dbSUPER 10.1 -552.6 -552633 5 HDGF PKNOX1 MLX SIN3A ARID4B DMAP1 ELK1 ZNF143 FOS ATF7 KCNAB2 PHF13 ZBTB48 NPHP4 TNFRSF25 GC01M006038
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZBTB48 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000704 309 1001 HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 YY1 GLIS2

Genomic Location for ZBTB48 Gene

Chromosome:
1
Start:
6,579,991 bp from pter
End:
6,589,280 bp from pter
Size:
9,290 bases
Orientation:
Plus strand

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

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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003691 double-stranded telomeric DNA binding IDA 28082411
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8661141
GO:0005515 protein binding IPI 16189514
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

CRISPR Products

miRNA for ZBTB48 Gene

miRTarBase miRNAs that target ZBTB48

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZBTB48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZBTB48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 34 16 33
  • 87.37 (n)
OneToOne
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)

Paralogs for ZBTB48 Gene

Variants for ZBTB48 Gene

Sequence variations from dbSNP and Humsavar for ZBTB48 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000024691 -- 6,579,158(+) GTGGT(A/G)TGGAC intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1000244169 -- 6,588,420(+) TGCCA(C/G)ATATG nc-transcript-variant, reference, missense
rs1001155888 -- 6,584,472(+) GTCTA(C/T)CATGG intron-variant
rs1001371752 -- 6,583,944(+) CTGGC(C/T)AATTT intron-variant
rs1001434005 -- 6,584,548(+) AAACC(C/T)GTTCG 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)

Relevant External Links 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 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ZBTB48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. The GLI-Kruppel family of human genes. (PMID: 2850480) Ruppert JM … Vogelstein B (Molecular and cellular biology 1988) 2 3 4 60
  3. ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator. (PMID: 28500257) Jahn A … Kappei D (EMBO reports 2017) 3 4 60
  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 60
  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 60

Products for ZBTB48 Gene

Sources for ZBTB48 Gene

Content
Loading form....