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

    Gene ID: 53339, updated on 12-Aug-2018

    Summary

    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; Vega:OTTHUMG00000147364
    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

    Genomic context

    See BTBD1 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (83016423..83067354, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83685175..83736106, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene homer scaffold protein 2 Neighboring gene uncharacterized LOC105370928 Neighboring gene chromosome 15 open reading frame 40 Neighboring gene RNA guanine-7 methyltransferase activating subunit Neighboring gene fatty acid binding protein 5 pseudogene 8 Neighboring gene microRNA 4515 Neighboring gene transmembrane 6 superfamily member 1 Neighboring gene HDGF like 3 Neighboring gene uncharacterized LOC105370932 Neighboring gene basonuclin 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    P-body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    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_001011885.1NP_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, OTTHUMP00000248876, ENST00000379403.2, OTTHUMT00000419503
      Conserved Domains (4) summary
      smart00225
      Location:88175
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:187286
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:62171
      BTB; BTB/POZ domain
      pfam08005
      Location:334352
      PHR; PHR domain
    2. NM_025238.3NP_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
      Q9H0C5
      UniProtKB/TrEMBL
      A0A024R224
      Related
      ENSP00000261721.4, OTTHUMP00000190872, ENST00000261721.8, OTTHUMT00000304008
      Conserved Domains (3) summary
      smart00875
      Location:187286
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:62175
      BTB; BTB/POZ domain
      pfam08005
      Location:334480
      PHR; PHR domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      83016423..83067354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_931846.3 RNA Sequence

    2. XR_002957648.1 RNA Sequence

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