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    ZBTB5 zinc finger and BTB domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 9925, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZBTB5provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:23836
    See related
    Ensembl:ENSG00000168795 MIM:616590; AllianceGenome:HGNC:23836
    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
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.3), esophagus (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB5 in Genome Data Viewer
    Location:
    9p13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37438102..37465450, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37461795..37489145, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37438099..37465447, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902154 Neighboring gene uncharacterized LOC105376035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37410141-37410932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37412515-37413305 Neighboring gene Sharpr-MPRA regulatory region 8540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37422039-37422664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37422665-37423290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37424965-37425905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37428038-37428538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37428539-37429039 Neighboring gene glyoxylate and hydroxypyruvate reductase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37434399-37435037 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:37464369-37465054 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:37465055-37465740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37465741-37466426 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37466427-37467112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37468922-37469753 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:37477128-37478327 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37485410-37486001 Neighboring gene RNA polymerase I subunit E Neighboring gene ribosomal protein L21 pseudogene 83

    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. Cell fate decisions by c-Myc depend on ZBTB5 and p53. Choi SH, et al. Biochem Biophys Res Commun, 2020 Dec 17. PMID 33051058
    2. A novel POK family transcription factor, ZBTB5, represses transcription of p21CIP1 gene. Koh DI, et al. J Biol Chem, 2009 Jul 24. PMID 19491398, Free PMC Article
    3. Tamalin is a scaffold protein that interacts with multiple neuronal proteins in distinct modes of protein-protein association. Kitano J, et al. J Biol Chem, 2003 Apr 25. PMID 12586822
    4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1997 Apr 28. PMID 9205841
    5. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    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 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 5

    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_014872.3 → NP_055687.1  zinc finger and BTB domain-containing protein 5

      See identical proteins and their annotated locations for NP_055687.1

      Status: VALIDATED

      Source sequence(s)
      AB002352, AL158155, AW075599, BC010007, DB457364
      Consensus CDS
      CCDS6610.1
      UniProtKB/Swiss-Prot
      O15062
      UniProtKB/TrEMBL
      Q5T942
      Related
      ENSP00000307604.4, ENST00000307750.5
      Conserved Domains (4) summary
      smart00225
      Location:25 → 119
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:615 → 635
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:627 → 652
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      37438102..37465450 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251634.3 → XP_005251691.1  zinc finger and BTB domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_005251691.1

      UniProtKB/Swiss-Prot
      O15062
      UniProtKB/TrEMBL
      Q5T942
      Conserved Domains (4) summary
      smart00225
      Location:25 → 119
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:615 → 635
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:14 → 119
      BTB; BTB/POZ domain
      pfam13465
      Location:627 → 652
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      37461795..37489145 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364416.1 → XP_054220391.1  zinc finger and BTB domain-containing protein 5 isoform X1

      UniProtKB/Swiss-Prot
      O15062
      UniProtKB/TrEMBL
      Q5T942
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15062.1 GenPept UniProtKB/Swiss-Prot:O15062

    Gene LinkOut

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

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