GediPNet logo

BTBD1 (BTB domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53339
Gene nameGene Name - the full gene name approved by the HGNC.
BTB domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BTBD1
SynonymsGene synonyms aliases
C15orf1, NS5ATP8
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.2
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 482
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30804561

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412