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

Gene ID: 23099, updated on 21-Mar-2023

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 sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 18.2), testis (RPKM 10.2) and 24 other tissues See more
Orthologs
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (126804072..126838210)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139009454..139043950)
105.20220307 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 enhancers GRCh37_chr9:129467063-129467788 and GRCh37_chr9:129467789-129468514 Neighboring gene uncharacterized LOC107987129 Neighboring gene zinc finger and BTB domain containing 34 Neighboring gene Ral GEF with PH domain and SH3 binding motif 1 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
  • 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 (27) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 PubMed 
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
 PubMed 
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
 PubMed 
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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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_2023_03

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
    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
    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

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

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

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

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

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

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