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    Zbtb48 zinc finger and BTB domain containing 48 [ Mus musculus (house mouse) ]

    Gene ID: 100090, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Zbtb48provided by MGI
    Official Full Name
    zinc finger and BTB domain containing 48provided by MGI
    Primary source
    MGI:MGI:2140248
    See related
    Ensembl:ENSMUSG00000028952 AllianceGenome:MGI:2140248
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hkr3; TZAP; 0610011D15Rik
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding activity; and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; and telomere maintenance via telomere lengthening. Predicted to be located in chromosome, telomeric region. Predicted to be active in nucleus. Is expressed in early conceptus and genitourinary system. Orthologous to human ZBTB48 (zinc finger and BTB domain containing 48). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 8.7), limb E14.5 (RPKM 7.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 E2; 4 82.83 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (152104230..152112132, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (152019773..152027675, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6290 Neighboring gene PHD finger protein 13 Neighboring gene STARR-positive B cell enhancer ABC_E3557 Neighboring gene kelch-like 21 Neighboring gene STARR-positive B cell enhancer ABC_E6291 Neighboring gene STARR-seq mESC enhancer starr_12192 Neighboring gene taste receptor, type 1, member 1 Neighboring gene nucleolar protein 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. ZBTB20 is crucial for the specification of a subset of callosal projection neurons and astrocytes in the mammalian neocortex. Medeiros de Araújo JA, et al. Development, 2021 Aug 15. PMID 34351428, Free PMC Article
    2. Plasticity in the Glucagon Interactome Reveals Novel Proteins That Regulate Glucagon Secretion in α-TC1-6 Cells. Asadi F, et al. Front Endocrinol (Lausanne), 2018. PMID 30713523, Free PMC Article
    3. Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocyst. Guo G, et al. Dev Cell, 2010 Apr 20. PMID 20412781
    4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
    5. A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Yokoyama S, et al. Dev Cell, 2009 Dec. PMID 20059953, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    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 MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_001379628.1 → NP_001366557.1  telomere zinc finger-associated protein

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes the functional protein.
      Source sequence(s)
      AL611927
      UniProtKB/Swiss-Prot
      A2A8B1, Q1H9T6, Q99K15
      Conserved Domains (7) summary
      COG5048
      Location:456 → 517
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:367 → 452
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 418
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18232
      Location:8 → 115
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam00096
      Location:571 → 593
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:298 → 321
      zf-H2C2_2; Zinc-finger double domain

    2. NM_133879.3 → NP_598640.2  telomere zinc finger-associated protein

      See identical proteins and their annotated locations for NP_598640.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 2, encodes the functional protein.
      Source sequence(s)
      AL611927
      Consensus CDS
      CCDS38982.1
      UniProtKB/Swiss-Prot
      A2A8B1, Q1H9T6, Q99K15
      Related
      ENSMUSP00000067521.5, ENSMUST00000066715.11
      Conserved Domains (7) summary
      COG5048
      Location:456 → 517
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:367 → 452
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:402 → 418
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18232
      Location:8 → 115
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam00096
      Location:571 → 593
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:298 → 321
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_166858.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL611927
      Related
      ENSMUST00000155389.8

    2. NR_166859.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL611927

    3. NR_166860.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL611927
      Related
      ENSMUST00000123696.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      152104230..152112132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538448.2 → XP_006538511.1  telomere zinc finger-associated protein isoform X2

      See identical proteins and their annotated locations for XP_006538511.1

      Conserved Domains (5) summary
      PHA03247
      Location:396 → 553
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:286 → 306
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:627 → 649
      zf-C2H2; Zinc finger, C2H2 type
      cd18232
      Location:8 → 115
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam13465
      Location:298 → 321
      zf-H2C2_2; Zinc-finger double domain

    2. XM_006538449.1 → XP_006538512.1  telomere zinc finger-associated protein isoform X2

      See identical proteins and their annotated locations for XP_006538512.1

      Conserved Domains (5) summary
      PHA03247
      Location:396 → 553
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:286 → 306
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:627 → 649
      zf-C2H2; Zinc finger, C2H2 type
      cd18232
      Location:8 → 115
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam13465
      Location:298 → 321
      zf-H2C2_2; Zinc-finger double domain

    3. XM_017319884.2 → XP_017175373.1  telomere zinc finger-associated protein isoform X3

      Conserved Domains (7) summary
      COG5048
      Location:486 → 547
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:397 → 482
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:490 → 510
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:432 → 448
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:601 → 623
      zf-C2H2; Zinc finger, C2H2 type
      cd18232
      Location:38 → 145
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam13465
      Location:328 → 351
      zf-H2C2_2; Zinc-finger double domain

    4. XM_017319883.2 → XP_017175372.1  telomere zinc finger-associated protein isoform X1

      Conserved Domains (5) summary
      PHA03247
      Location:426 → 583
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:316 → 336
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:657 → 679
      zf-C2H2; Zinc finger, C2H2 type
      cd18232
      Location:38 → 145
      BTB_POZ_ZBTB48_TZAP_KR3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in telomere zinc finger-associated protein (TZAP)
      pfam13465
      Location:328 → 351
      zf-H2C2_2; Zinc-finger double domain

    5. XM_006538451.4 → XP_006538514.1  telomere zinc finger-associated protein isoform X4

      Conserved Domains (5) summary
      COG5048
      Location:121 → 182
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:32 → 117
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:125 → 145
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:236 → 258
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:223 → 247
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_003954859.1 RNA Sequence

    2. XR_003954858.2 RNA Sequence

    3. XR_004941792.1 RNA Sequence

    4. XR_003954857.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1H9T6.1 GenPept UniProtKB/Swiss-Prot:Q1H9T6

    Gene LinkOut

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