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    ZBTB1 zinc finger and BTB domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 22890, updated on 27-Nov-2024

    Summary

    Official Symbol
    ZBTB1provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20259
    See related
    Ensembl:ENSG00000126804 MIM:616578; AllianceGenome:HGNC:20259
    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
    ZNF909
    Summary
    Enables K63-linked polyubiquitin modification-dependent protein binding activity; protein heterodimerization activity; and protein homodimerization activity. Involved in several processes, including mRNA transcription by RNA polymerase II; protein homooligomerization; and translesion synthesis. Located in nuclear body and nuclear membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.1), lymph node (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZBTB1 in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64503716..64533693)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58711422..58741460)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64971488..65000411)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64858021-64858754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64858755-64859488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64859797-64860574 Neighboring gene methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Neighboring gene Sharpr-MPRA regulatory region 9441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5833 Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5834 Neighboring gene A-kinase anchoring protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8535 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64970928-64971598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5837 Neighboring gene HSPA2 and ZBTB1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5839 Neighboring gene heat shock protein family A (Hsp70) member 2 Neighboring gene protein phosphatase 1 regulatory subunit 36 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:65039864-65040400

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0997

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell mediated immunity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of natural killer cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of pro-T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in thymus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in translesion synthesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    zinc finger and BTB domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_001123329.2NP_001116801.1  zinc finger and BTB domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001116801.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AW965994, BC050719, BM975910, BX248777
      Consensus CDS
      CCDS45126.1
      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
      UniProtKB/TrEMBL
      Q5UW39
      Related
      ENSP00000506911.1, ENST00000683701.1
      Conserved Domains (3) summary
      sd00017
      Location:580600
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:688709
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18192
      Location:3116
      BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
    2. NM_014950.3NP_055765.2  zinc finger and BTB domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_055765.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 3' coding region and 3' UTR, compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB023214, AL049869, BX248777, CN362091
      Consensus CDS
      CCDS32097.1
      UniProtKB/TrEMBL
      Q5UW39
      Related
      ENSP00000351587.3, ENST00000358738.3
      Conserved Domains (2) summary
      sd00017
      Location:536574
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18192
      Location:3116
      BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      64503716..64533693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431111.1XP_047287067.1  zinc finger and BTB domain-containing protein 1 isoform X2

    2. XM_047431093.1XP_047287049.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    3. XM_047431095.1XP_047287051.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    4. XM_047431098.1XP_047287054.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    5. XM_047431091.1XP_047287047.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    6. XM_047431106.1XP_047287062.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    7. XM_047431100.1XP_047287056.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    8. XM_047431107.1XP_047287063.1  zinc finger and BTB domain-containing protein 1 isoform X2

    9. XM_047431092.1XP_047287048.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    10. XM_047431088.1XP_047287044.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    11. XM_047431102.1XP_047287058.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
      Related
      ENSP00000451000.1, ENST00000554015.5
    12. XM_047431086.1XP_047287042.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    13. XM_047431096.1XP_047287052.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    14. XM_047431090.1XP_047287046.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    15. XM_047431104.1XP_047287060.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    16. XM_047431097.1XP_047287053.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    17. XM_047431087.1XP_047287043.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    18. XM_047431108.1XP_047287064.1  zinc finger and BTB domain-containing protein 1 isoform X2

    19. XM_047431110.1XP_047287066.1  zinc finger and BTB domain-containing protein 1 isoform X2

    20. XM_047431103.1XP_047287059.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    21. XM_005267410.2XP_005267467.1  zinc finger and BTB domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005267467.1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
      UniProtKB/TrEMBL
      Q5UW39
      Conserved Domains (3) summary
      sd00017
      Location:580600
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:688709
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18192
      Location:3116
      BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
    22. XM_017021095.2XP_016876584.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
      UniProtKB/TrEMBL
      Q5UW39
      Conserved Domains (3) summary
      sd00017
      Location:580600
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:688709
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18192
      Location:3116
      BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
    23. XM_011536566.3XP_011534868.1  zinc finger and BTB domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011534868.1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
      UniProtKB/TrEMBL
      Q5UW39
      Conserved Domains (3) summary
      sd00017
      Location:580600
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:688709
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18192
      Location:3116
      BTB_POZ_ZBTB1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 1 (ZBTB1)
    24. XM_047431094.1XP_047287050.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    25. XM_047431105.1XP_047287061.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    26. XM_047431101.1XP_047287057.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      58711422..58741460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375589.1XP_054231564.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    2. XM_054375602.1XP_054231577.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    3. XM_054375591.1XP_054231566.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    4. XM_054375587.1XP_054231562.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    5. XM_054375595.1XP_054231570.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    6. XM_054375586.1XP_054231561.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    7. XM_054375600.1XP_054231575.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    8. XM_054375593.1XP_054231568.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    9. XM_054375594.1XP_054231569.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    10. XM_054375607.1XP_054231582.1  zinc finger and BTB domain-containing protein 1 isoform X2

    11. XM_054375582.1XP_054231557.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    12. XM_054375584.1XP_054231559.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    13. XM_054375581.1XP_054231556.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    14. XM_054375604.1XP_054231579.1  zinc finger and BTB domain-containing protein 1 isoform X2

    15. XM_054375588.1XP_054231563.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    16. XM_054375592.1XP_054231567.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    17. XM_054375598.1XP_054231573.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    18. XM_054375599.1XP_054231574.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    19. XM_054375605.1XP_054231580.1  zinc finger and BTB domain-containing protein 1 isoform X2

    20. XM_054375603.1XP_054231578.1  zinc finger and BTB domain-containing protein 1 isoform X2

    21. XM_054375606.1XP_054231581.1  zinc finger and BTB domain-containing protein 1 isoform X2

    22. XM_054375583.1XP_054231558.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    23. XM_054375597.1XP_054231572.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    24. XM_054375585.1XP_054231560.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    25. XM_054375590.1XP_054231565.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    26. XM_054375601.1XP_054231576.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1
    27. XM_054375596.1XP_054231571.1  zinc finger and BTB domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K6S8, Q86SW8, Q9Y2K1