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FLASH GENE

Symbol

BICC1

contributors: mct - updated : 14-10-2013

HGNC name	bicaudal C homolog 1 (Drosophila)
HGNC id	19351

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q21.1      Physical location : 60.272.903 - 60.588.845
Synonym symbol(s)	FLJ22476, BICC, CYSRD

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	intronless gene
STRUCTURE	318.42 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001080512 21 - 3119 NP_001073981 - 974 - 2001 11231089

EXPRESSION

Type

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 Urinary kidney tubule convoluted tubule proximal tubule   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

IMPRINTING

maternally

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three K homology (KH) domain
	a sterile alpha motif (SAM) , oncentrating BICC1 in cytoplasmic structures harboring RNA-processing bodies (P-bodies) and DVL2

HOMOLOGY

interspecies

homolog to murine Bicc1

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION

basic FUNCTION	regulating gene expression during embryonic development
	regulator of DVL signaling abutting RNA-processing bodies, that controls cilia orientation and leftward flow
	regulates cargo-specific protein sorting mediated by the epithelial cell specific clathrin adaptor AP1B1
	blocks canonical Wnt signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein	BICC1 and ANKS6 interact at the protein level suggesting that they function in a common molecular pathway that when perturbed, is involved in cystogenesis
	repression of ADCY6 by BICC1 might explain why cysts in ADPKD patients preferentially arise from distal tubules

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to the development of cystic renal dysplasia (CYSRD), (OMIM 601331)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing beta-cells and ensuing diabetes