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

    Gene ID: 3104, updated on 27-Nov-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 DNA-templated transcription and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB48 in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6579994..6589280)
    RS_2024_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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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. 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
    3. Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Maris JM, et al. Genomics, 1996 Jul 15. PMID 8661141
    4. 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
    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 (38) 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

    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)

    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_2024_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  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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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