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    ZBTB43 zinc finger and BTB domain containing 43 [ Homo sapiens (human) ]

    Gene ID: 23099, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZBTB43provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 43provided by HGNC
    Primary source
    HGNC:HGNC:17908
    See related
    Ensembl:ENSG00000169155 MIM:618676; AllianceGenome:HGNC:17908
    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
    ZNF-X; ZBTB22B; ZNF297B
    Summary
    Enables RNA polymerase III general transcription initiation factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 18.2), testis (RPKM 10.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB43 in Genome Data Viewer
    Location:
    9q33.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (126804072..126838210)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139009454..139043950)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (129567319..129600489)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129376359-129376940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129376941-129377520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129378101-129378680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:129387803-129388768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129392623-129393190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129393191-129393758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129398978-129399478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129414454-129415333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129416491-129416990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129424890-129425503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129425974-129426490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129426491-129427005 Neighboring gene Sharpr-MPRA regulatory region 8141 Neighboring gene LIM homeobox transcription factor 1 beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129436714-129437369 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:129438749-129439277 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:129439278-129439806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129445577-129446297 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:129450160-129451042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:129456574-129457344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:129458734-129459234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129464425-129465019 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:129467063-129467788 and GRCh37_chr9:129467789-129468514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129468515-129469238 Neighboring gene uncharacterized LOC107987129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129482087-129482586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20291 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106693 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:129567045-129567546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129594985-129595486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129595487-129595986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29023 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:129623061-129623858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:129630751-129631332 Neighboring gene NANOG hESC enhancer GRCh37_chr9:129645854-129646429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:129648667-129649167 Neighboring gene zinc finger and BTB domain containing 34 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29025 Neighboring gene Ral GEF with PH domain and SH3 binding motif 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29031 Neighboring gene uncharacterized LOC105376279

    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. The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB. Schoenen F, et al. Biol Chem, 2006 Mar. PMID 16542149
    2. Detecting rare variants for complex traits using family and unrelated data. Zhu X, et al. Genet Epidemiol, 2010 Feb. PMID 19847924, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1997 Oct 31. PMID 9455477
    4. LRF maintains genome integrity by regulating the non-homologous end joining pathway of DNA repair. Liu XS, et al. Nat Commun, 2015 Oct 8. PMID 26446488, Free PMC Article
    5. Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders. Li J, et al. Cell Syst, 2015 Nov 25. PMID 26949739, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Detecting rare variants for complex traits using family and unrelated data.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase III general transcription initiation factor binding IPI
    Inferred from Physical Interaction
    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 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 43
    Names
    zinc finger and BTB domain-containing protein 22B
    zinc finger protein 297B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001135776.2 → NP_001129248.1  zinc finger and BTB domain-containing protein 43

      See identical proteins and their annotated locations for NP_001129248.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AL161731, AL354944, DA500531
      Consensus CDS
      CCDS6867.1
      UniProtKB/Swiss-Prot
      O43298, Q5JU96
      Related
      ENSP00000390344.1, ENST00000449886.5
      Conserved Domains (3) summary
      sd00017
      Location:376 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18227
      Location:8 → 128
      BTB_POZ_ZBTB43; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 43 (ZBTB43)
      pfam13465
      Location:414 → 437
      zf-H2C2_2; Zinc-finger double domain

    2. NM_014007.4 → NP_054726.1  zinc finger and BTB domain-containing protein 43

      See identical proteins and their annotated locations for NP_054726.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AL161731, AL354944, BC008828, DA864775
      Consensus CDS
      CCDS6867.1
      UniProtKB/Swiss-Prot
      O43298, Q5JU96
      Related
      ENSP00000362563.4, ENST00000373464.5
      Conserved Domains (3) summary
      sd00017
      Location:376 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18227
      Location:8 → 128
      BTB_POZ_ZBTB43; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 43 (ZBTB43)
      pfam13465
      Location:414 → 437
      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
      126804072..126838210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518409.1 → XP_011516711.1  zinc finger and BTB domain-containing protein 43 isoform X1

      See identical proteins and their annotated locations for XP_011516711.1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96
      Conserved Domains (3) summary
      sd00017
      Location:376 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18227
      Location:8 → 128
      BTB_POZ_ZBTB43; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 43 (ZBTB43)
      pfam13465
      Location:414 → 437
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047423032.1 → XP_047278988.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    3. XM_005251835.4 → XP_005251892.1  zinc finger and BTB domain-containing protein 43 isoform X1

      See identical proteins and their annotated locations for XP_005251892.1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96
      Conserved Domains (3) summary
      sd00017
      Location:376 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18227
      Location:8 → 128
      BTB_POZ_ZBTB43; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 43 (ZBTB43)
      pfam13465
      Location:414 → 437
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047423031.1 → XP_047278987.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    5. XM_011518411.3 → XP_011516713.1  zinc finger and BTB domain-containing protein 43 isoform X1

      See identical proteins and their annotated locations for XP_011516713.1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96
      Conserved Domains (3) summary
      sd00017
      Location:376 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18227
      Location:8 → 128
      BTB_POZ_ZBTB43; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 43 (ZBTB43)
      pfam13465
      Location:414 → 437
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      139009454..139043950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362449.1 → XP_054218424.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    2. XM_054362447.1 → XP_054218422.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    3. XM_054362448.1 → XP_054218423.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    4. XM_054362446.1 → XP_054218421.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96

    5. XM_054362450.1 → XP_054218425.1  zinc finger and BTB domain-containing protein 43 isoform X1

      UniProtKB/Swiss-Prot
      O43298, Q5JU96
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43298.1 GenPept UniProtKB/Swiss-Prot:O43298

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