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    ZBTB11 zinc finger and BTB domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 27107, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ZBTB11provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:16740
    See related
    Ensembl:ENSG00000066422 MIM:618181; AllianceGenome:HGNC:16740
    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
    MRT69; ZNF913; ZNF-U69274
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB11 in Genome Data Viewer
    Location:
    3q12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (101648889..101677132, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (104361496..104389742, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (101367733..101395976, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L32 pseudogene 7 Neighboring gene RNA, U6 small nuclear 1256, pseudogene Neighboring gene RNY1 pseudogene 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:101392720-101393220 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:101395114-101395668 Neighboring gene endogenous retrovirus group K member 5 Gag polyprotein Neighboring gene ZBTB11 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20173 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:101405139-101406338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:101406769-101407322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:101407323-101407876 Neighboring gene ribosomal protein L24 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:101418343-101419102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:101419863-101420622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:101420623-101421381 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:101421445-101422644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:101422701-101423652 Neighboring gene uncharacterized LOC124909402

    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. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Ortigoza-Escobar JD, et al. Mov Disord, 2024 Sep. PMID 38899514
    2. Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function. Wilson BC, et al. Nat Commun, 2020 Oct 29. PMID 33122634, Free PMC Article
    3. Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis. Xu W, et al. Nat Commun, 2024 Feb 14. PMID 38355937, Free PMC Article
    4. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Fattahi Z, et al. Hum Mol Genet, 2018 Sep 15. PMID 29893856
    5. The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes. Garipler G, et al. Cell Rep, 2022 Mar 15. PMID 35294876, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
      Title: Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
    2. Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis.
      Title: Oncoprotein SET-associated transcription factor ZBTB11 triggers lung cancer metastasis.
    3. The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes.
      Title: The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro-differentiation genes.
    4. Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.
      Title: Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.
    5. we report two ID families segregating ZBTB11 biallelic mutations disrupting Zn2+-binding motifs and provide functional evidence linking ZBTB11 dysfunction to this phenotype
      Title: Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
    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

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal recessive 69
    MedGen: C5193067 OMIM: 618383 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13426, MGC133303

    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 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
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 11

    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_014415.4 → NP_055230.2  zinc finger and BTB domain-containing protein 11

      See identical proteins and their annotated locations for NP_055230.2

      Status: VALIDATED

      Source sequence(s)
      AB208862, AC084198, AI636025, AK312859, BC028062, DA907277
      Consensus CDS
      CCDS2943.1
      UniProtKB/Swiss-Prot
      O95625, Q2NKP9
      UniProtKB/TrEMBL
      A0A994J7A5
      Related
      ENSP00000326200.4, ENST00000312938.5
      Conserved Domains (4) summary
      smart00225
      Location:215 → 306
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:681 → 701
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:204 → 305
      BTB; BTB/POZ domain
      pfam13465
      Location:900 → 923
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      101648889..101677132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512689.3 → XP_011510991.1  zinc finger and BTB domain-containing protein 11 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KRR0
      Related
      ENSP00000510736.1, ENST00000688910.1
      Conserved Domains (4) summary
      smart00225
      Location:150 → 241
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:616 → 636
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:139 → 240
      BTB; BTB/POZ domain
      pfam13465
      Location:835 → 858
      zf-H2C2_2; Zinc-finger double domain

    2. XM_011512690.3 → XP_011510992.1  zinc finger and BTB domain-containing protein 11 isoform X2

      UniProtKB/TrEMBL
      Q59H97
      Conserved Domains (2) summary
      sd00017
      Location:397 → 417
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:616 → 639
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      104361496..104389742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346169.1 → XP_054202144.1  zinc finger and BTB domain-containing protein 11 isoform X1

    2. XM_054346170.1 → XP_054202145.1  zinc finger and BTB domain-containing protein 11 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95625.2 GenPept UniProtKB/Swiss-Prot:O95625

    Gene LinkOut

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

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