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    BTBD6 BTB domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 90135, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BTBD6provided by HGNC
    Official Full Name
    BTB domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:19897
    See related
    Ensembl:ENSG00000184887 AllianceGenome:HGNC:19897
    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
    BDPL
    Summary
    Predicted to be involved in neurogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 41.1), testis (RPKM 32.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD6 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105248533..105251093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99495394..99497954)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105714870..105717430)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105621328-105621926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105629549-105630296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105633835-105634334 Neighboring gene microRNA 6765 Neighboring gene jagged canonical Notch ligand 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105636983-105637819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105658307-105659088 Neighboring gene nudix hydrolase 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105662217-105662998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105662999-105663780 Neighboring gene BRF1 general transcription factor IIIB subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105714496-105715286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105716078-105716867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105740537-105741440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105749364-105749905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105750449-105750989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105752260-105753158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6224 Neighboring gene uncharacterized LOC124903409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6225 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105778446-105778606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105781451-105782102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105789257-105789766 Neighboring gene phosphofurin acidic cluster sorting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105794355-105794864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105798394-105799279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105803897-105804562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105804563-105805228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105808627-105809468 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105812556-105812745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105819060-105819589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6230 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105837257-105837460 Neighboring gene ribosomal protein S20 pseudogene 33

    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. FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis. Liu F, et al. Mol Biol Rep, 2012 Feb. PMID 21573799
    2. Xenopus BTBD6 and its Drosophila homologue lute are required for neuronal development. Bury FJ, et al. Dev Dyn, 2008 Nov. PMID 18855900
    3. A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiation. Sobieszczuk DF, et al. Genes Dev, 2010 Jan 15. PMID 20080956, Free PMC Article
    4. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    5. Identification of the COMM-domain containing protein 1 as specific binding partner for the guanine-rich RNA sequence binding factor 1. Dumoulin B, et al. Biochim Biophys Acta Gen Subj, 2020 Nov. PMID 32645484

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Btbd6a promotes the relocation of Plzf from nucleus to cytoplasm and targets Plzf for ubiquitination and degradation
      Title: A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiation.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 6
    Names
    BTB (POZ) domain containing 6
    BTB domain protein BDPL
    epididymis secretory sperm binding protein
    glucocorticoid receptor AF-1 coactivator-1
    lens BTB domain protein

    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_001387567.1 → NP_001374496.1  BTB/POZ domain-containing protein 6 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL512355
      Consensus CDS
      CCDS91955.1
      UniProtKB/Swiss-Prot
      Q8IVQ7, Q96KE9, Q9BR94
      UniProtKB/TrEMBL
      A0A8C8KHP4
      Related
      ENSP00000376337.4, ENST00000392554.8
      Conserved Domains (3) summary
      cd18349
      Location:128 → 236
      BTB_POZ_BTBD6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 6 (BTBD6)
      cd18525
      Location:236 → 330
      BACK_BTBD6; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 6 (BTBD6)
      pfam08005
      Location:392 → 537
      PHR; PHR domain

    2. NM_033271.3 → NP_150374.2  BTB/POZ domain-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_150374.2

      Status: VALIDATED

      Source sequence(s)
      AF353674, AL512355, BU730253, DB456488
      Consensus CDS
      CCDS10002.2
      UniProtKB/TrEMBL
      A0A384NYR4
      Related
      ENSP00000443091.1, ENST00000536364.6
      Conserved Domains (3) summary
      cd18349
      Location:75 → 183
      BTB_POZ_BTBD6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 6 (BTBD6)
      cd18525
      Location:183 → 277
      BACK_BTBD6; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 6 (BTBD6)
      pfam08005
      Location:339 → 484
      PHR; PHR 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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105248533..105251093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99495394..99497954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KE9.4 GenPept UniProtKB/Swiss-Prot:Q96KE9

    Gene LinkOut

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

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