BBS1 - Bardet-Biedl syndrome 1 Gene

Also Known as BBS2L2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 582

About BBS1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,510,635-66,533,598 (from NCBI)

This gene has 25 transcripts (splice variants), 189 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 19.8), kidney (RPKM 18.2) and 25 other tissues.

Summary

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

BBS1 Products (1)

mRNA	Protein	Name
NM_024649.5	NP_078925.3	Bardet-Biedl syndrome 1 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	22302990	GOA
enables patched binding	IPI IPI: Inferred from physical interaction	22228099	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16327777	GOA
enables smoothened binding	IPI IPI: Inferred from physical interaction	22228099	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within Golgi to plasma membrane protein transport	IMP IMP: Inferred from mutant phenotype	19150989	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	17574030	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	17980398	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	17980398	GOA
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 centrosome	IDA IDA: Inferred from direct assay	18762586	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	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

BBS1 Protein Structure

BBS1

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
Bardet-Biedl syndrome 1 protein	BBS2-like protein 2

BBS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BBS1	Q8NFJ9	ALDOB	Homo sapiens	P05062	Y2H	18000879
Intra	BBS1	Q8NFJ9	ALDOB	Homo sapiens	P05062	Confocal	18000879
Intra	BBS1	Q8NFJ9	PARK7	Homo sapiens	Q99497	Y2H	18000879
Intra	BBS1	Q8NFJ9	BBS4	Homo sapiens	Q96RK4	Anti Tag CoIP	33961781
Intra	BBS1	Q8NFJ9	BBS4	Homo sapiens	Q96RK4	TAP	27173435
Intra	BBS1	Q8NFJ9	BBS4	Homo sapiens	Q96RK4	Anti Tag CoIP	22500027
Intra	BBS1	Q8NFJ9	BBS4	Homo sapiens	Q96RK4	Density Sedimentation	17574030
Intra	BBS1	Q8NFJ9	BBS4	Homo sapiens	Q96RK4	Density Sedimentation	22500027
Intra	BBS1	Q8NFJ9	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	33961781
Intra	BBS1	Q8NFJ9	BBS7	Homo sapiens	Q8IWZ6	TAP	27173435
Intra	BBS1	Q8NFJ9	BBS7	Homo sapiens	Q8IWZ6	Density Sedimentation	17574030
Intra	BBS1	Q8NFJ9	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	22500027
Intra	BBS1	Q8NFJ9	BBS7	Homo sapiens	Q8IWZ6	Density Sedimentation	22500027
Intra	BBS1	Q8NFJ9	DCTN1	Homo sapiens	Q14203-5	Validated Y2H	32814053
Intra	BBS1	Q8NFJ9	DCTN1	Homo sapiens	Q14203-5	Y2H Pooling	32814053
Intra	BBS1	Q8NFJ9	DCTN1	Homo sapiens	Q14203-5	Y2H Array	32814053
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	TAP	27173435
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	33961781
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	Density Sedimentation	22500027
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	Lumier	29039417
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	Density Sedimentation	17574030
Intra	BBS1	Q8NFJ9	BBS9	Homo sapiens	Q3SYG4	Y2H	29039417
Intra	BBS1	Q8NFJ9	ARL6	Homo sapiens	Q9H0F7	Anti Tag CoIP	22139371
Intra	BBS1	Q8NFJ9	EEF1A1	Homo sapiens	P68104	Y2H	18000879
Intra	BBS1	Q8NFJ9	EEF1A1	Homo sapiens	P68104	CoIP	18000879
Cross	BBS1	Q8NFJ9	Lepr	Mus musculus	P48356-1	IF	19150989
Cross	BBS1	Q8NFJ9	Lepr	Mus musculus	P48356-1	Anti Tag CoIP	19150989
Intra	BBS1	Q8NFJ9	PCM1	Homo sapiens	Q15154	Density Sedimentation	17574030
Intra	BBS1	Q8NFJ9	PCM1	Homo sapiens	Q15154	Y2H	18000879
Intra	BBS1	Q8NFJ9	RAB3IP	Homo sapiens	Q96QF0-1	Anti Tag CoIP	17574030
Intra	BBS1	Q8NFJ9	BBS2	Homo sapiens	Q9BXC9	Density Sedimentation	17574030
Intra	BBS1	Q8NFJ9	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	33961781
Intra	BBS1	Q8NFJ9	BBS2	Homo sapiens	Q9BXC9	TAP	27173435
Intra	BBS1	Q8NFJ9	BBS2	Homo sapiens	Q9BXC9	Density Sedimentation	22500027

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
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
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
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
Bardet-Biedl Syndrome 17	BBS17 Bardet-Biedl Syndrome, Type 17
Bardet-Biedl Syndrome 18	BBS18 Bardet-Biedl Syndrome, Type 18
Laurence-Moon Syndrome	LNMS Laurence-Moon-Biedl Syndrome
Bardet-Biedl Syndrome 3	BBS3 Bardet-Biedl Syndrome, Type 3
Bardet-Biedl Syndrome 14	BBS14 Bardet-Biedl Syndrome 14, Modifier Of Bardet-Biedl Syndrome, Type 14
Bardet-Biedl Syndrome 6	BBS6 Bardet-Biedl Syndrome, Type 6
Bardet-Biedl Syndrome 10	BBS10 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 10
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
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
46,Xy Sex Reversal 7	SRXY7 46,Xy Sex Reversal, Partial Or Complete, Dhh-Related 46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related Gdxym Gonadal Dysgenesis, Xy, Male-Limited 46xy Sex Reversal 7 Gonadal Dysgenesis, Xy, Male Limited Complete Pure Gonadal Dysgenesis 46,Xy Type Male-Limited Gonadal Dysgenesis 46,Xy 46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Bardet-Biedl Syndrome 19	BBS19 Bardet-Biedl Syndrome, Type 19
Retinal Degeneration	Degeneration Of Retina
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Arthrogryposis, Distal, Type 1c	DA1C Distal Arthrogryposis Type 1c Arthrogryposis, Distal, 1c
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
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Leptin Deficiency Or Dysfunction	Morbid Obesity Obesity Due To Congenital Leptin Deficiency LEPD Congenital Leptin Deficiency Obesity, Morbid Obesity, Morbid, Due To Leptin Deficiency Severe Obesity Obesity, Morbid, Nonsyndromic 1 Leptin Deficiency Obesity, Severe, Due To Leptin Deficiency Leptin Morbid Obesity Due To Leptin Deficiency Obesity Morbid Leptin Dysfunction
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
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
Eye Degenerative Disease
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
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
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
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Brachydactyly
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon

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-RS01384	BBS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BBS1	RGD	RGD:1307581
Mus musculus	BBS1	MGD	MGI:1277215