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    ZBTB45 zinc finger and BTB domain containing 45 [ Homo sapiens (human) ]

    Gene ID: 84878, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZBTB45provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 45provided by HGNC
    Primary source
    HGNC:HGNC:23715
    See related
    Ensembl:ENSG00000119574 AllianceGenome:HGNC:23715
    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
    ZNF499
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 3.6), spleen (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB45 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58513530..58542718, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61609523..61640397, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (59024897..59054085, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 693, pseudogene Neighboring gene uncharacterized LOC105372485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15206 Neighboring gene solute carrier family 27 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:59017967-59018180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59023062-59023576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:59029424-59030084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:59049840-59050470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:59050471-59051099 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:59054606-59055110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11093 Neighboring gene RNA, 7SL, cytoplasmic 525, pseudogene Neighboring gene tripartite motif containing 28 Neighboring gene microRNA 6807

    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. Recruitment of the Mammalian Histone-modifying EMSY Complex to Target Genes Is Regulated by ZNF131. Varier RA, et al. J Biol Chem, 2016 Apr 1. PMID 26841866, Free PMC Article
    2. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
    3. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
    4. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article
    5. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070

    See all (12) 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

    Clone Names

    • FLJ14486, DKFZp547H249

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 45
    Names
    zinc finger protein 499

    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_001316978.2 → NP_001303907.1  zinc finger and BTB domain-containing protein 45

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All six variants encode the same protein.
      Source sequence(s)
      AC012313, BC024738, DA394169, DA649936
      Consensus CDS
      CCDS12984.1
      UniProtKB/Swiss-Prot
      Q96K62
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001316979.2 → NP_001303908.1  zinc finger and BTB domain-containing protein 45

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AK027392, BC024738
      Consensus CDS
      CCDS12984.1
      UniProtKB/Swiss-Prot
      Q96K62
      Related
      ENSP00000469089.1, ENST00000594051.6
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001316981.2 → NP_001303910.1  zinc finger and BTB domain-containing protein 45

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AK027392, BC024738, DR158681
      Consensus CDS
      CCDS12984.1
      UniProtKB/Swiss-Prot
      Q96K62
      Related
      ENSP00000473072.1, ENST00000600990.1
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001316982.2 → NP_001303911.1  zinc finger and BTB domain-containing protein 45

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      BC024738, DB043101
      Consensus CDS
      CCDS12984.1
      UniProtKB/Swiss-Prot
      Q96K62
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      zf-H2C2_2; Zinc-finger double domain

    5. NM_032792.4 → NP_116181.1  zinc finger and BTB domain-containing protein 45

      See identical proteins and their annotated locations for NP_116181.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AC012313, BC024738, DA649936
      Consensus CDS
      CCDS12984.1
      UniProtKB/Swiss-Prot
      Q96K62
      Related
      ENSP00000346603.2, ENST00000354590.7
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      58513530..58542718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723445.4 → XP_006723508.1  zinc finger and BTB domain-containing protein 45 isoform X1

      See identical proteins and their annotated locations for XP_006723508.1

      UniProtKB/Swiss-Prot
      Q96K62
      Conserved Domains (6) summary
      smart00225
      Location:34 → 124
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:405 → 472
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:459 → 481
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:23 → 122
      BTB; BTB/POZ domain
      pfam13465
      Location:445 → 470
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61609523..61640397 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322426.1 → XP_054178401.1  zinc finger and BTB domain-containing protein 45 isoform X1

      UniProtKB/Swiss-Prot
      Q96K62

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001316980.2: Suppressed sequence

      Description
      NM_001316980.2: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K62.1 GenPept UniProtKB/Swiss-Prot:Q96K62

    Gene LinkOut

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

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