BBS9 - Bardet-Biedl syndrome 9 Gene

Also Known as B1; D1; C18; PTHB1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27241

About BBS9

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,129,285-33,635,767 (from NCBI)

This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues.

Summary

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]

BBS9 Products (18)

mRNA	Protein	Name
NM_001033604.2	NP_001028776.1	protein PTHB1 isoform 3
NM_001033605.2	NP_001028777.1	protein PTHB1 isoform 4
NM_001348036.1	NP_001334965.1	protein PTHB1 isoform 2
NM_001348037.3	NP_001334966.1	protein PTHB1 isoform 5
NM_001348038.3	NP_001334967.1	protein PTHB1 isoform 6
NM_001348039.3	NP_001334968.1	protein PTHB1 isoform 7
NM_001348040.3	NP_001334969.1	protein PTHB1 isoform 8
NM_001348041.4	NP_001334970.1	protein PTHB1 isoform 9
NM_001348042.3	NP_001334971.1	protein PTHB1 isoform 10
NM_001348043.3	NP_001334972.1	protein PTHB1 isoform 11
NM_001348044.3	NP_001334973.1	protein PTHB1 isoform 12
NM_001348045.3	NP_001334974.1	protein PTHB1 isoform 13
NM_001348046.3	NP_001334975.1	protein PTHB1 isoform 13
NM_001362679.1	NP_001349608.1	protein PTHB1 isoform 14
NM_001412127.2	NP_001399056.1	protein PTHB1 isoform 15
NM_001412128.2	NP_001399057.1	protein PTHB1 isoform 16
NM_014451.4	NP_055266.2	protein PTHB1 isoform 1
NM_198428.3	NP_940820.1	protein PTHB1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17574030	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein localization to cilium	IMP IMP: Inferred from mutant phenotype	23943788	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BBSome	IDA IDA: Inferred from direct assay	17574030	GOA
part of BBSome	IPI IPI: Inferred from physical interaction	19081074	GOA
located in centriolar satellite	IDA IDA: Inferred from direct assay	23943788	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	23943788	GOA
located in cilium	IDA IDA: Inferred from direct assay	22139371	GOA
located in pericentriolar material	IDA IDA: Inferred from direct assay	22139371	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

BBS9 Protein Structure

PHTB1_N

PHTB1_C

0
200
400
600
800
887 a.a.

Protein Preferred Names	Protein Names
protein PTHB1	PTH-responsive osteosarcoma B1 protein

BBS9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BBS9	Q3SYG4	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	17574030
Intra	BBS9	Q3SYG4	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	22500027
Intra	BBS9	Q3SYG4	BBS1	Homo sapiens	Q8NFJ9	Y2H	29039417
Intra	BBS9	Q3SYG4	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	20080638
Intra	BBS9	Q3SYG4	BBS4	Homo sapiens	Q96RK4	Y2H	29039417
Intra	BBS9	Q3SYG4	BBS4	Homo sapiens	Q96RK4	Anti Tag CoIP	20080638
Intra	BBS9	Q3SYG4	LZTFL1	Homo sapiens	Q9NQ48	Anti Tag CoIP	22072986
Intra	BBS9	Q3SYG4	BBS5	Homo sapiens	Q8N3I7	Anti Tag CoIP	17574030
Intra	BBS9	Q3SYG4	TTC8	Homo sapiens	Q8TAM2	Anti Tag CoIP	17574030
Intra	BBS9	Q3SYG4	BBS2	Homo sapiens	Q9BXC9	Y2H	29039417
Intra	BBS9	Q3SYG4	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	22500027
Intra	BBS9	Q3SYG4	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	20080638
Intra	BBS9	Q3SYG4	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	17574030

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bardet-Biedl Syndrome 9	BBS9 Bardet-Biedl Syndrome, Type 9
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Bardet-Biedl Syndrome 18	BBS18 Bardet-Biedl Syndrome, Type 18
Bardet-Biedl Syndrome 17	BBS17 Bardet-Biedl Syndrome, Type 17
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Bardet-Biedl Syndrome 19	BBS19 Bardet-Biedl Syndrome, Type 19
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Hereditary Spastic Paraplegia 51	Autosomal Dominant Spastic Paraplegia 51 Cpsq4 Spastic Quadriplegic Cerebral Palsy 4 Spg51 Spastic Paraplegia 51, Autosomal Recessive
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Congenital Stationary Night Blindness Autosomal Dominant 3 CSNBAD3 Night Blindness, Congenital Stationary, Nougaret Type Nougaret Type Congenital Stationary Night Blindness Congenital Stationary Night Blindness Nougaret Type Hemeralopia Congenital Essential Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3
Nephronophthisis 15	NPHP15 Nephronophthisis, Type 15
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Mckusick-Kaufman Syndrome	MKKS Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation Hmcs Kaufman-Mckusick Syndrome Hydrometrocolpos Syndrome Hydrometrocolpos-Postaxial Polydactyly Syndrome Kaufman Mckusick Syndrome Mckusick Kaufman Syndrome Mks
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Laurence-Moon Syndrome	LNMS Laurence-Moon-Biedl Syndrome
Muenke Syndrome	Muenke Nonsyndromic Coronal Craniosynostosis Fgfr3-Related Craniosynostosis Fgfr3-Associated Coronal Synostosis Coronal Craniosynostosis MNKES Syndrome Of Coronal Craniosynostosis MNKS Fgfr3-Related Isolated Coronal Synostosis Muenke Non-Syndromic Coronal Craniosynostosis
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Carpenter Syndrome 1	Carpenter Syndrome Acrocephalopolysyndactyly Type Ii Acps Ii CRPT1 Acrocephalopolysyndactyly Type 2 Acrocephalosyndactyly, Type Ii Acrocephalopolysyndactyly 2 Acps2 Acps 2 Type Ii Acrocephalosyndactyly Carpenter Syndrome, Type 1 Apert-Crouzon Disease
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01391	BBS9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BBS9	MGD	MGI:2442833
Rattus norvegicus	BBS9	RGD	RGD:1308472