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

Gene ID: 3104, updated on 3-Mar-2026
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 DNA-templated transcription and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2025]
Expression
Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See ZBTB48 in Genome Data Viewer
Location:
1p36.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6579994..6589280)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (6105658..6114944)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. ZBTB48 is a priming factor regulating B-cell-specific CIITA expression. Rane G, et al. EMBO J, 2024 Dec. PMID 39562739, Free PMC Article
  2. 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
  3. A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein. Sugawara M, et al. Mol Cell Biol, 1994 Dec. PMID 7969177, Free PMC Article
  4. Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Maris JM, et al. Genomics, 1996 Jul 15. PMID 8661141
  5. Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Maris JM, et al. Eur J Cancer, 1997 Oct. PMID 9516840

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Recruitment of the m[6]A/m6Am demethylase FTO to target RNAs by the telomeric zinc finger protein ZBTB48.
    Title: Recruitment of the m(6)A/m6Am demethylase FTO to target RNAs by the telomeric zinc finger protein ZBTB48.
  2. 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.
  3. 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.
  4. Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer.
    Title: Clinical and Prognostic Significance of TZAP Expression in Cervical Cancer.
  5. 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 (†).
  6. 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.
  7. 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.
  8. 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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding IEA
Inferred from Electronic Annotation
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 sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of RNA metabolic process 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 IEA
Inferred from Electronic Annotation
more info
  
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
zinc finger and BTB domain-containing protein 48
Names
GLI-Kruppel family member HKR3
krueppel-related zinc finger protein 3
telomere zinc finger-associated protein
telomere-binding protein and transcriptional activator ZBTB48
telomeric zinc finger-associated protein
zinc finger protein 855

NEW Try the new Transcript table

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  zinc finger and BTB domain-containing protein 48

    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
    Related
    ENSP00000573057.1, ENST00000902998.1
    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  zinc finger and BTB domain-containing protein 48

    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
    Related
    ENSP00000573052.1, ENST00000902993.1
    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  zinc finger and BTB domain-containing protein 48

    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_2025_08

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  zinc finger and BTB domain-containing protein 48 isoform X1

    UniProtKB/Swiss-Prot
    P10074, Q5SY19
    UniProtKB/TrEMBL
    A8K291, B2R702
    Related
    ENSP00000573055.1, ENST00000902996.1

  2. XM_047418868.1 → XP_047274824.1  zinc finger and BTB domain-containing protein 48 isoform X3

  3. XM_047418867.1 → XP_047274823.1  zinc finger and BTB domain-containing protein 48 isoform X3

  4. XM_047418878.1 → XP_047274834.1  zinc finger and BTB domain-containing protein 48 isoform X6

  5. XM_047418869.1 → XP_047274825.1  zinc finger and BTB domain-containing protein 48 isoform X3

    Related
    ENSP00000573054.1, ENST00000902995.1

  6. XM_047418880.1 → XP_047274836.1  zinc finger and BTB domain-containing protein 48 isoform X6

  7. XM_047418870.1 → XP_047274826.1  zinc finger and BTB domain-containing protein 48 isoform X3

  8. XM_047418882.1 → XP_047274838.1  zinc finger and BTB domain-containing protein 48 isoform X6

  9. XM_047418865.1 → XP_047274821.1  zinc finger and BTB domain-containing protein 48 isoform X2

  10. XM_017001111.3 → XP_016856600.1  zinc finger and BTB domain-containing protein 48 isoform X4

    UniProtKB/TrEMBL
    Q5SY20

  11. XM_047418875.1 → XP_047274831.1  zinc finger and BTB domain-containing protein 48 isoform X5

    UniProtKB/TrEMBL
    Q5SY20

  12. XM_047418886.1 → XP_047274842.1  zinc finger and BTB domain-containing protein 48 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  zinc finger and BTB domain-containing protein 48 isoform X3

  2. XM_054336220.1 → XP_054192195.1  zinc finger and BTB domain-containing protein 48 isoform X6

  3. XM_054336216.1 → XP_054192191.1  zinc finger and BTB domain-containing protein 48 isoform X3

  4. XM_054336221.1 → XP_054192196.1  zinc finger and BTB domain-containing protein 48 isoform X6

  5. XM_054336217.1 → XP_054192192.1  zinc finger and BTB domain-containing protein 48 isoform X3

  6. XM_054336222.1 → XP_054192197.1  zinc finger and BTB domain-containing protein 48 isoform X6

  7. XM_054336213.1 → XP_054192188.1  zinc finger and BTB domain-containing protein 48 isoform X2

  8. XM_054336218.1 → XP_054192193.1  zinc finger and BTB domain-containing protein 48 isoform X4

    UniProtKB/TrEMBL
    Q5SY20

  9. XM_054336219.1 → XP_054192194.1  zinc finger and BTB domain-containing protein 48 isoform X5

    UniProtKB/TrEMBL
    Q5SY20

  10. XM_054336215.1 → XP_054192190.1  zinc finger and BTB domain-containing protein 48 isoform X3

  11. XM_054336223.1 → XP_054192198.1  zinc finger and BTB domain-containing protein 48 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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