Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53339
Gene name Gene Name - the full gene name approved by the HGNC.
BTB domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTBD1
Synonyms (NCBI Gene) Gene synonyms aliases
C15orf1, NS5ATP8
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 prot
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052407 hsa-let-7a-5p CLASH 23622248
MIRT538884 hsa-miR-137 PAR-CLIP 22012620
MIRT538883 hsa-miR-6783-5p PAR-CLIP 22012620
MIRT538882 hsa-miR-126-5p PAR-CLIP 22012620
MIRT538881 hsa-miR-4795-5p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IBA 21873635
GO:0000932 Component P-body IDA 12878161
GO:0005515 Function Protein binding IPI 12878161, 18305892, 21145461, 22761572, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608530 1120 ENSG00000064726
Protein
UniProt ID Q9H0C5
Protein name BTB/POZ domain-containing protein 1 (Hepatitis C virus NS5A-transactivated protein 8) (HCV NS5A-transactivated protein 8)
Protein function Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear di
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 59 175 BTB/POZ domain Domain
PF07707 BACK 180 287 BTB And C-terminal Kelch Domain
PF08005 PHR 333 481 PHR domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; highest levels in testes, heart and skeletal muscle. {ECO:0000269|PubMed:11179693, ECO:0000269|PubMed:11818025}.
Sequence
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Diabetes Mellitus Associate 35655479
Diabetes Mellitus Type 2 Associate 35655479