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

Gene ID: 53339, updated on 4-Jan-2025

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; 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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cullin family protein binding PubMed 
enables identical protein binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in muscle organ development  
involved_in neurogenesis  
involved_in protein ubiquitination  
involved_in regulation of protein binding PubMed 
Component Evidence Code Pubs
is_active_in P-body  
located_in P-body PubMed 
located_in cytoplasmic ribonucleoprotein granule  
is_active_in cytosol  
located_in cytosol  
located_in cytosol  
located_in nucleoplasm  
part_of protein-containing complex  

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)

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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_001011885.2NP_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: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_025238.4NP_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:187286
    BACK; BTB And C-terminal Kelch
    pfam00651
    Location:62175
    BTB; BTB/POZ domain
    pfam08005
    Location:334480
    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

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