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    BTBD1 BTB domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 53339, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTBD1provided by HGNC
    Official Full Name
    BTB domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:1120
    See related
    Ensembl:ENSG00000064726 MIM:608530; AllianceGenome:HGNC:1120
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C15orf1; NS5ATP8
    Summary
    The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 40.3), testis (RPKM 36.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD1 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83016423..83067252, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80880768..80931626, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83685175..83736004, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene homer scaffold protein 2 Neighboring gene uncharacterized LOC105370928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:83620722-83621222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:83632148-83632648 Neighboring gene Sharpr-MPRA regulatory region 12194 Neighboring gene chromosome 15 open reading frame 40 Neighboring gene RNA guanine-7 methyltransferase activating subunit Neighboring gene uncharacterized LOC124903542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9968 Neighboring gene fatty acid binding protein 5 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9970 Neighboring gene Sharpr-MPRA regulatory region 9115 Neighboring gene microRNA 4515 Neighboring gene uncharacterized LOC124903543 Neighboring gene uncharacterized LOC124903588

    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. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. Tsai FJ, et al. PLoS One, 2011 Feb 4. PMID 21326860, Free PMC Article
    2. The topoisomerase 1-interacting protein BTBD1 is essential for muscle cell differentiation. Pisani DF, et al. Cell Death Differ, 2004 Nov. PMID 15486563
    3. Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I. Xu L, et al. BMC Genomics, 2002. PMID 11818025, Free PMC Article
    4. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. Carim-Todd L, et al. Gene, 2001 Jan 10. PMID 11179693
    5. Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection. Khurana B, et al. Virol J, 2010 Nov 20. PMID 21092135, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction of BTBD1 and BTBD2 with TOP1 requires TOP1 residues 236 and 237, the same residues required to enhance the infectivity of progeny virions when TOP1 is expressed in African Green Monkey producer cells.
      Title: Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.
    2. subcellular colocalization of BTBD1 and BTBD2 to cytoplasmic bodies; TRIM5delta colocalized with BTBD1/2 and appeared to serve as a scaffold for the assembly of endogenous BTBD1/2 proteins
      Title: BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.
    3. BTBD1 is essential for myogenic differentiation
      Title: The topoisomerase 1-interacting protein BTBD1 is essential for muscle cell 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

    EBI GWAS Catalog

    Description
    Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of BTB (POZ) domain containing 1 (BTBD1; C15orf1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 cullin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 1
    Names
    BTB (POZ) domain containing 1
    HCV NS5A-transactivated protein 8
    hepatitis C virus NS5A-transactivated protein 8

    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_001011885.2 → NP_001011885.1  BTB/POZ domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001011885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF257241, BC028097, BF095127, BI553790
      Consensus CDS
      CCDS32313.1
      UniProtKB/Swiss-Prot
      Q9H0C5
      Related
      ENSP00000368713.2, ENST00000379403.2
      Conserved Domains (4) summary
      smart00225
      Location:88 → 175
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:187 → 286
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:62 → 171
      BTB; BTB/POZ domain
      pfam08005
      Location:334 → 352
      PHR; PHR domain

    2. NM_025238.4 → NP_079514.1  BTB/POZ domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_079514.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF257241, BC028097, BI553790
      Consensus CDS
      CCDS10322.1
      UniProtKB/Swiss-Prot
      A6NMI8, Q9BX71, Q9H0C5, Q9NWN4
      UniProtKB/TrEMBL
      Q3ZTS5
      Related
      ENSP00000261721.4, ENST00000261721.9
      Conserved Domains (3) summary
      smart00875
      Location:187 → 286
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:62 → 175
      BTB; BTB/POZ domain
      pfam08005
      Location:334 → 480
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      83016423..83067252 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007064459.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      80880768..80931626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488967.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0C5.1 GenPept UniProtKB/Swiss-Prot:Q9H0C5

    Gene LinkOut

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