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FLASH GENE

Symbol

BBS9

contributors: mct/npt/pgu - updated : 05-06-2019

HGNC name	Bardet-Biedl syndrome 9
HGNC id	30000

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BBS9 Bardet-Biedl syndrome 9
Location	7p14.3      Physical location : 33.169.151 - 33.645.680
Synonym name	PTH-responsive osteosarcoma B1 protein
	parathyroid hormone-responsive B1
Synonym symbol(s)	B1, D1, C18, PTHB1, MGC118917

DNA

TYPE	functioning gene
STRUCTURE	507.99 kb     23 Exon(s)

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_014451 21 - 3899 NP_055266 - 847 lowly 2007 17574030 lack exons 15, 16 NM_198428 23 - 4019 NP_940820 99.3 887 ubiquitous 2007 17574030 NM_001033604 21 splicing 3914 NP_001028776 - 852 - 2007 17574030 differential utilization of exons 22, 23, 24 NM_001033605 23 - 4004 NP_001028777 - 882 - 2007 17574030 NM_001348036 23 - 3785 NP_001334965 - 887 - 2007 17574030 NM_001348041 23 - 4883 NP_001334970 - 908 - 2007 17574030 NM_001348038 23 - 4023 NP_001334967 - 796 - 2007 17574030 NM_001348039 22 - 3918 NP_001334968 - 761 - 2007 17574030 NM_001348043 23 - 4016 NP_001334972 - 886 - 2007 17574030 NM_001348040 21 - 3896 NP_001334969 - 846 - 2007 17574030 NM_001348037 21 - 3771 NP_001334966 - 704 - 2007 17574030 NM_001348042 22 - 3896 NP_001334971 - 842 - 2007 17574030 NM_001348045 21 - 3831 NP_001334974 - 765 - 2007 17574030 NM_001348046 20 - 3680 NP_001334975 - 765 - 2007 17574030 NM_001362679 22 - 3629 NP_001349608 - 871 - 2007 17574030

EXPRESSION

Type

widely

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 Reproductive male system testis     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a beta-stranded N-terminal domain, a seven-bladed beta-propeller
	C-terminal half of BBS9 dimerizes in solution, and this C-terminal dimerization interface might be important for the assembly of the BBSome

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus

basic FUNCTION	may be involved in parathyroid hormone action in bones
	required for the localization of G protein-coupled receptors to primary cilia on central neurons
	mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
	key conserved role of BBS9 in biogenesis and/or function of cilia
	play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
	required for ciliogenesis during cranial suture development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium
	part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome

INTERACTION

DNA

RNA

small molecule

protein

ARL6-BBS1 interaction is reinforced by BBS9

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BBS9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities

Susceptibility

to nonsyndromic sagittal craniosynostosis

Variant & Polymorphism SNP	within a 167-kb region of BBS9 between rs10262453 and rs17724206, susceptibility loci for nonsyndromic sagittal craniosynostosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Bbs9 expression increased during in vivo ossification of rat sutures