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FLASH GENE

Symbol

BTBD1

contributors: mct/npt - updated : 03/10/2008

HGNC name	BTB (POZ) domain containing 1
HGNC id	1120

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	15q24      Physical location : 83.685.182 - 83.736.106
Synonym name	hepatitis C virus NS5A-transactivated protein 8
	HCV NS5A-transactivated protein 8
Synonym symbol(s)	FLJ20724, BTB1, C15orf1, NS5ATP8

DNA

TYPE	functioning gene
STRUCTURE	50.93 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see TM6SF1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 8 - 3308 52.8 482 - Carim-Todd, Pisani (2004) variant 2 7 - 3220 52.8 482 - Sugano (unpublished), Pisani (2004)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive stomach       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal   predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus with a proline-rich region
	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
	C-terminus binds topoisomerase I

HOMOLOGY

interspecies

ortholog to murine Btbd1

intraspecies

paralog to BTBD1B

Homologene

FAMILY

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	mediating protein-protein interaction
	may function as DNA or actin binding protein
	playing an essential role for myogenic differentiation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to topoisomerase 1

cell & other

REGULATION

Other

specifically regulated during myogenic and adipogenic differentiation, in relation with TOPO1 expression

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function during myogenesis constitutional       loss of function in adipogenesis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS