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

Gene ID: 53339, updated on 5-Mar-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
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Genomic context

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Location:
15q25.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83016423..83067252, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80880768..80931626, complement)
105.20220307 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
  • 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. 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
  5. 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

See all (44) 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_2023_10

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

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

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