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

Gene ID: 90135, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 41.1), testis (RPKM 32.0) and 24 other tissues See more
Orthologs
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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 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)

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 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

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