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ZBTB49 zinc finger and BTB domain containing 49 [ Homo sapiens (human) ]

Gene ID: 166793, updated on 3-Apr-2024

Summary

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Official Symbol
ZBTB49provided by HGNC
Official Full Name
zinc finger and BTB domain containing 49provided by HGNC
Primary source
HGNC:HGNC:19883
See related
Ensembl:ENSG00000168826 MIM:616238; AllianceGenome:HGNC:19883
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
ZNF509
Summary
Enables DNA-binding transcription factor binding activity; sequence-specific DNA binding activity; and transcription coactivator binding activity. Involved in negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; and regulation of cell cycle. Located in cytosol; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.0), spleen (RPKM 2.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See ZBTB49 in Genome Data Viewer
Location:
4p16.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4290251..4321783)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4259715..4291244)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4291978..4323510)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:4249292-4249918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4258767-4259267 Neighboring gene transmembrane protein 128 Neighboring gene Sharpr-MPRA regulatory region 9855 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4271128-4271305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4290369-4290906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4289830-4290368 Neighboring gene Ly1 antibody reactive Neighboring gene uncharacterized LOC112268462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4398117-4398664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4398665-4399213 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4407681-4407811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4416839-4417340 Neighboring gene neuronal vesicle trafficking associated 1 Neighboring gene syntaxin 18

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. ZNF509S1 downregulates PUMA by inhibiting p53K382 acetylation and p53-DNA binding. Jeon BN, et al. Biochim Biophys Acta Gene Regul Mech, 2017 Sep. PMID 28757384
  2. Two ZNF509 (ZBTB49) isoforms induce cell-cycle arrest by activating transcription of p21/CDKN1A and RB upon exposure to genotoxic stress. Jeon BN, et al. Nucleic Acids Res, 2014 Oct. PMID 25245946, Free PMC Article
  3. Unravelling the transcriptional responses of TGF-β: Smad3 and EZH2 constitute a regulatory switch that controls neuroretinal epithelial cell fate specification. Andrews D, et al. FASEB J, 2019 May. PMID 30779601
  4. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
  5. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. Taipale M, et al. Cell, 2012 Aug 31. PMID 22939624, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ZNF509S1 modulation of p53 activity.
    Title: ZNF509S1 downregulates PUMA by inhibiting p53K382 acetylation and p53-DNA binding.
  2. Two major ZNF509 isoforms are induced by p53 and act as downstream executioners of cell-cycle arrest by inducing expression of p21 and RB.
    Title: Two ZNF509 (ZBTB49) isoforms induce cell-cycle arrest by activating transcription of p21/CDKN1A and RB upon exposure to genotoxic stress.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38559, MGC126279, MGC126280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific 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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coactivator binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation 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 positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle 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
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in microtubule cytoskeleton 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
  
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 49
Names
zinc finger protein 509

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_001330625.2 → NP_001317554.1  zinc finger and BTB domain-containing protein 49

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK292551, BC109087, CA435417
    Consensus CDS
    CCDS3375.1
    UniProtKB/Swiss-Prot
    A8K936, Q32ML0, Q59FJ4, Q5EBN0, Q6ZSB9, Q8TB80
    Conserved Domains (4) summary
    COG5048
    Location:384 → 542
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:509 → 529
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cd18233
    Location:7 → 118
    BTB_POZ_ZBTB49; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 49 (ZBTB49)
    pfam13465
    Location:549 → 574
    zf-H2C2_2; Zinc-finger double domain

  2. NM_145291.4 → NP_660334.3  zinc finger and BTB domain-containing protein 49

    See identical proteins and their annotated locations for NP_660334.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK292551, BC109087, CA435417
    Consensus CDS
    CCDS3375.1
    UniProtKB/Swiss-Prot
    A8K936, Q32ML0, Q59FJ4, Q5EBN0, Q6ZSB9, Q8TB80
    Related
    ENSP00000338807.4, ENST00000337872.9
    Conserved Domains (4) summary
    COG5048
    Location:384 → 542
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:509 → 529
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cd18233
    Location:7 → 118
    BTB_POZ_ZBTB49; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 49 (ZBTB49)
    pfam13465
    Location:549 → 574
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_138481.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two consecutive alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK292551, BC109087, CA435417
    Related
    ENST00000515012.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    4290251..4321783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247951.5 → XP_005248008.1  zinc finger and BTB domain-containing protein 49 isoform X2

    UniProtKB/TrEMBL
    D6RC96
    Conserved Domains (5) summary
    smart00225
    Location:26 → 119
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00017
    Location:397 → 417
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:395 → 417
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:15 → 118
    BTB; BTB/POZ domain
    pfam13465
    Location:409 → 434
    zf-H2C2_2; Zinc-finger double domain

  2. XM_011513416.2 → XP_011511718.1  zinc finger and BTB domain-containing protein 49 isoform X1

    UniProtKB/Swiss-Prot
    Q6ZSB9
    Conserved Domains (5) summary
    smart00225
    Location:26 → 119
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00017
    Location:397 → 417
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:395 → 417
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:15 → 118
    BTB; BTB/POZ domain
    pfam13465
    Location:427 → 452
    zf-H2C2_2; Zinc-finger double domain

  3. XM_047449707.1 → XP_047305663.1  zinc finger and BTB domain-containing protein 49 isoform X2

  4. XM_047449706.1 → XP_047305662.1  zinc finger and BTB domain-containing protein 49 isoform X1

  5. XM_047449708.1 → XP_047305664.1  zinc finger and BTB domain-containing protein 49 isoform X3

    UniProtKB/TrEMBL
    D3DVS6, Q32MK9

RNA

  1. XR_007096382.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    4259715..4291244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349104.1 → XP_054205079.1  zinc finger and BTB domain-containing protein 49 isoform X2

  2. XM_054349102.1 → XP_054205077.1  zinc finger and BTB domain-containing protein 49 isoform X1

  3. XM_054349105.1 → XP_054205080.1  zinc finger and BTB domain-containing protein 49 isoform X2

  4. XM_054349103.1 → XP_054205078.1  zinc finger and BTB domain-containing protein 49 isoform X1

  5. XM_054349106.1 → XP_054205081.1  zinc finger and BTB domain-containing protein 49 isoform X3

    UniProtKB/TrEMBL
    D3DVS6, Q32MK9

RNA

  1. XR_008486945.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZSB9.3 GenPept UniProtKB/Swiss-Prot:Q6ZSB9

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