BTBD1 - BTB domain containing 1 Gene

Homo sapiens

Also known as C15orf1; NS5ATP8

Gene ID: 53339 | Gene type: protein coding

About BTBD1

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,016,423-83,067,252 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues and 11 paralogues. Ubiquitous expression in heart (RPKM 40.3), testis (RPKM 36.9) and 25 other tissues.

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]

BTBD1 Products(2)

mRNA	Protein	Name
NM_001011885.2	NP_001011885.1	BTB/POZ domain-containing protein 1 isoform 2
NM_025238.4	NP_079514.1	BTB/POZ domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cullin family protein binding	IPI IPI: Inferred from physical interaction	14528312	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12878161	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in P-body	IDA IDA: Inferred from direct assay	12878161	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BTBD1 Protein Structure

BTB

BACK

PHR

0
100
200
300
400
482 a.a.

Protein Preferred Names

Protein Names

BTB/POZ domain-containing protein 1

BTB (POZ) domain containing 1

BTBD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	BTBD1	Q9H0C5	E2	Human papillomavirus	P03120	SLC	22761572
Cross	BTBD1	Q9H0C5	E2	Human papillomavirus	P03120	Y2H	18305892
Intra	BTBD1	Q9H0C5	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	BTBD1	Q9H0C5	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	BTBD1	Q9H0C5	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	33961781
Intra	BTBD1	Q9H0C5	COPS7A	Homo sapiens	Q9UBW8	Anti Tag CoIP	28514442
Intra	BTBD1	Q9H0C5	COPS6	Homo sapiens	Q7L5N1	Anti Tag CoIP	33961781
Intra	BTBD1	Q9H0C5	COPS5	Homo sapiens	Q92905	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01652	BTBD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BTBD1	VGNC	VGNC:26583
Mus musculus	BTBD1	MGD	MGI:1933765
Felis catus	BTBD1	VGNC	VGNC:60194
Canis familiaris	BTBD1	VGNC	VGNC:38545
Macaca mulatta	BTBD1	VGNC	VGNC:84315
Rattus norvegicus	BTBD1	RGD	RGD:1310962
Others	BTBD1	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.