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

Gene ID: 9925, updated on 2-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
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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 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)

Genotypes

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

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