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

Gene ID: 53339, updated on 21-Dec-2019

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
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:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (83016423..83067258, 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

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_001011885.2NP_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
    Q9H0C5
    UniProtKB/TrEMBL
    A0A024R224
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    83016423..83067258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_931846.3 RNA Sequence

  2. XR_002957648.1 RNA Sequence

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