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ZBTB48 zinc finger and BTB domain containing 48 [ Homo sapiens (human) ]

Gene ID: 3104, updated on 3-Apr-2024

Summary

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Official Symbol
ZBTB48provided by HGNC
Official Full Name
zinc finger and BTB domain containing 48provided by HGNC
Primary source
HGNC:HGNC:4930
See related
Ensembl:ENSG00000204859 MIM:165270; AllianceGenome:HGNC:4930
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HKR3; TZAP; ZNF855; pp9964
Summary
Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of transcription, DNA-templated and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6579994..6589280)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (6105658..6114944)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6640054..6649340)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nucleolar protein 9 Neighboring gene RNA, U6 small nuclear 731, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6612384-6612884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 162 Neighboring gene taste 1 receptor member 1 Neighboring gene uncharacterized LOC107984912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6639438-6640137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 83 Neighboring gene kelch like family member 21 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:6658990-6660189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 84 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 85 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 86 Neighboring gene uncharacterized LOC107984913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 88 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6664299-6664647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 168

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Clinical Characteristics of TZAP (ZBTB48) in Hepatocellular Carcinomas from Tissue, Cell Line, and TCGA. Jung SJ, et al. Medicina (Kaunas), 2022 Dec 2. PMID 36556980, Free PMC Article
  2. Prognostic Value of Telomeric Zinc Finger-Associated Protein Expression in Adenocarcinoma and Squamous Cell Carcinoma of Lung. Kim GJ, et al. Medicina (Kaunas), 2021 Nov 10. PMID 34833441, Free PMC Article
  3. Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer. Park WJ, et al. Medicina (Kaunas), 2020 Apr 25. PMID 32344888, Free PMC Article
  4. TZAP Mutation Leads to Poor Prognosis of Patients with Breast Cancer (†). Heo YR, et al. Medicina (Kaunas), 2019 Nov 18. PMID 31752241, Free PMC Article
  5. TZAP or not to zap telomeres. Lossaint G, et al. Science, 2017 Feb 10. PMID 28183935

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Characteristics of TZAP (ZBTB48) in Hepatocellular Carcinomas from Tissue, Cell Line, and TCGA.
    Title: Clinical Characteristics of TZAP (ZBTB48) in Hepatocellular Carcinomas from Tissue, Cell Line, and TCGA.
  2. Prognostic Value of Telomeric Zinc Finger-Associated Protein Expression in Adenocarcinoma and Squamous Cell Carcinoma of Lung.
    Title: Prognostic Value of Telomeric Zinc Finger-Associated Protein Expression in Adenocarcinoma and Squamous Cell Carcinoma of Lung.
  3. Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer.
    Title: Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer.
  4. The ZBTB48 (TZAP) mutation (c.1272 G > A, L424L) was found in 7.8% of128 breast cancer (BC) patients and was associated with the N0 stage. BCs with the TZAP mutation had longer telomeres than those without this mutation. Survival analysis showed that the TZAP mutation resulted in poorer overall survival.
    Title: TZAP Mutation Leads to Poor Prognosis of Patients with Breast Cancer (†).
  5. study demonstrate through a combination of RNAseq, ChIPseq and expression proteomics experiments that ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1). This discovery places ZBTB48 at the interface of telomere length regulation, transcriptional control and mitochondrial metabolism
    Title: ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator.
  6. this study describes a specific telomere-associated protein: TZAP (telomeric zinc finger-associated protein). Binding of TZAP to long telomeres represents the switch that triggers telomere trimming, setting the upper limit of telomere length.
    Title: TZAP: A telomere-associated protein involved in telomere length control.
  7. HKR3 potently activated the transcription of the tumor suppressor gene ARF by acting on the proximal promoter region (bp, -149 approximately +53), which contains Sp1 and FBI-1 binding elements (FREs).
    Title: Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
telomere zinc finger-associated protein
Names
GLI-Kruppel family member HKR3
krueppel-related zinc finger protein 3
telomeric zinc finger-associated protein
zinc finger and BTB domain-containing protein 48
zinc finger protein 855

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001278647.2 → NP_001265576.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_001265576.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, AK290156, AL591866, HY047768
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074, Q5SY19
    UniProtKB/TrEMBL
    A8K291, B2R702
    Conserved Domains (6) summary
    COG5048
    Location:464 → 612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374 → 459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467 → 487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16 → 119
    BTB; BTB/POZ domain
    pfam13465
    Location:305 → 328
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001278648.2 → NP_001265577.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_001265577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, AK312786, AL591866, HY047768
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074, Q5SY19
    UniProtKB/TrEMBL
    A8K291, B2R702
    Conserved Domains (6) summary
    COG5048
    Location:464 → 612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374 → 459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467 → 487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16 → 119
    BTB; BTB/POZ domain
    pfam13465
    Location:305 → 328
    zf-H2C2_2; Zinc-finger double domain

  3. NM_005341.4 → NP_005332.1  telomere zinc finger-associated protein

    See identical proteins and their annotated locations for NP_005332.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA765826, BC013573, BI913659, HY047768, L16896
    Consensus CDS
    CCDS84.1
    UniProtKB/Swiss-Prot
    P10074, Q5SY19
    UniProtKB/TrEMBL
    A8K291, B2R702
    Related
    ENSP00000366902.4, ENST00000377674.9
    Conserved Domains (6) summary
    COG5048
    Location:464 → 612
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:374 → 459
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:467 → 487
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:409 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:16 → 119
    BTB; BTB/POZ domain
    pfam13465
    Location:305 → 328
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    6579994..6589280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418864.1 → XP_047274820.1  telomere zinc finger-associated protein isoform X1

    UniProtKB/Swiss-Prot
    P10074, Q5SY19

  2. XM_047418868.1 → XP_047274824.1  telomere zinc finger-associated protein isoform X3

  3. XM_047418867.1 → XP_047274823.1  telomere zinc finger-associated protein isoform X3

  4. XM_047418878.1 → XP_047274834.1  telomere zinc finger-associated protein isoform X6

  5. XM_047418869.1 → XP_047274825.1  telomere zinc finger-associated protein isoform X3

  6. XM_047418880.1 → XP_047274836.1  telomere zinc finger-associated protein isoform X6

  7. XM_047418870.1 → XP_047274826.1  telomere zinc finger-associated protein isoform X3

  8. XM_047418882.1 → XP_047274838.1  telomere zinc finger-associated protein isoform X6

  9. XM_047418865.1 → XP_047274821.1  telomere zinc finger-associated protein isoform X2

  10. XM_017001111.3 → XP_016856600.1  telomere zinc finger-associated protein isoform X4

    UniProtKB/TrEMBL
    Q5SY20

  11. XM_047418875.1 → XP_047274831.1  telomere zinc finger-associated protein isoform X5

  12. XM_047418886.1 → XP_047274842.1  telomere zinc finger-associated protein isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    6105658..6114944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336214.1 → XP_054192189.1  telomere zinc finger-associated protein isoform X3

  2. XM_054336220.1 → XP_054192195.1  telomere zinc finger-associated protein isoform X6

  3. XM_054336216.1 → XP_054192191.1  telomere zinc finger-associated protein isoform X3

  4. XM_054336221.1 → XP_054192196.1  telomere zinc finger-associated protein isoform X6

  5. XM_054336217.1 → XP_054192192.1  telomere zinc finger-associated protein isoform X3

  6. XM_054336222.1 → XP_054192197.1  telomere zinc finger-associated protein isoform X6

  7. XM_054336213.1 → XP_054192188.1  telomere zinc finger-associated protein isoform X2

  8. XM_054336218.1 → XP_054192193.1  telomere zinc finger-associated protein isoform X4

  9. XM_054336219.1 → XP_054192194.1  telomere zinc finger-associated protein isoform X5

  10. XM_054336215.1 → XP_054192190.1  telomere zinc finger-associated protein isoform X3

  11. XM_054336223.1 → XP_054192198.1  telomere zinc finger-associated protein isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10074.2 GenPept UniProtKB/Swiss-Prot:P10074

Gene LinkOut

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