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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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    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

    Gene LinkOut

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