Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BBS1 Gene

protein-coding GIFtS: 53
GCID: GC11P066276

Bardet-Biedl syndrome 1

Explore 19 diseases affiliated with
BBS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Bardet-Biedl Syndrome 1¹ ²
BBS2L2² ³
BBS2-Like Protein 2² ³
FLJ23590¹
Bardet-Biedl Syndrome 1 Protein²

External Ids:	HGNC: 966¹	Entrez Gene: 582²	Ensembl: ENSG00000174483⁷	OMIM: 209901⁵	UniProtKB: Q8NFJ9³

Export aliases for BBS1 gene to outside databases

Previous GC identifers: GC11U990008 GC11P066499 GC11P066024 GC11P066025 GC11P066006 GC11P066247

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BBS1:

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)

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This

ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and

contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the

BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8

and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the

ciliary membrane

Gene Wiki entry for BBS1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BBS1 gene promoter:
SRF Elk-1 AML1a SRF (504 AA) POU3F1 MyoD E47 Evi-1 ZIC2/Zic2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BBS1 promoter sequence

Search SABiosciences Chromatin IP Primers for BBS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13

BBS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P066276: view genomic region (about GC identifiers)

Start:	66,278,077 bp from pter	End:	66,301,098 bp from pter
Size:	23,022 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9 (See protein sequence)

Recommended Name: Bardet-Biedl syndrome 1 protein

Size: 593 amino acids; 65083 Da

Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex

binds to PCM1 and tubulin. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B

Subcellular location: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar

satellites in the cytoplasm

Secondary accessions: Q32MN0 Q96SN4

Alternative splicing: 2 isoforms: Q8NFJ9-1 Q8NFJ9-2 (Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBS1: NX_Q8NFJ9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NFJ9

BBS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_078925.3

ENSEMBL proteins:

ENSP00000432140 ENSP00000436073 ENSP00000317469 ENSP00000434360 ENSP00000436860

ENSP00000434619 ENSP00000431187 ENSP00000405764 ENSP00000434197 ENSP00000431866

ENSP00000377563 ENSP00000436927 ENSP00000436195 ENSP00000439873

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: BBS1 OriGene Custom Protein Services for BBS1
	GenScript Custom Purified and Recombinant Proteins Services for BBS1
	Novus Biologicals BBS1 Proteins Novus Biologicals BBS1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for BBS1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0034464	BBSome	IDA	17574030
GO:0060170	cilium membrane	IEA	--

BBS1 for ontologies About GeneDecksing

BBS1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for BBS1
	GenScript Custom Superior Antibodies Services for BBS1
	Novus Biologicals BBS1 Antibodies
	Abcam antibodies for BBS1
	Uscn Antibodies for BBS1
	Search ThermoFisher Antibodies for BBS1

Assay Products for BBS1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for BBS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BBS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BBS1 for domains About GeneDecksing

1 InterPro domain/family:

IPR011047 Quinonprotein_ADH-like_supfam

Graphical View of Domain Structure for InterPro Entry Q8NFJ9

ProtoNet protein and cluster: Q8NFJ9

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This

ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and

contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the

BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8

and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the

ciliary membrane

miRNA Products:		OriGene 3'-UTR Clone: BBS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS1
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS1:
		hsa-miR-148b* hsa-miR-3938 hsa-miR-3945 hsa-miR-4277 hsa-miR-3680
		SwitchGear 3'UTR luciferase reporter plasmid: BBS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS1 (see all 7) OriGene shRNA RFP: BBS1 OriGene siRNA: BBS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for BBS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: BBS1 (NM_024649)
		Sino Biological Human cDNA Clone for BBS1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BBS1
		Search LifeMap BioReagents cell lines for BBS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17574030

BBS1 for ontologies About GeneDecksing

Animal Models:
15 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bbs1):

adipose tissue	behavior/neurological	cardiovascular system	craniofacial	growth/size
hearing/vestibular/ear	homeostasis/metabolism	limbs/digits/tail	mortality/aging	nervous system
renal/urinary system	reproductive system	respiratory system	taste/olfaction	vision/eye

BBS1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BBS1

5/26 Interacting proteins for BBS1 (Q8NFJ9^{1, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BBS2	Q9BXC9¹^,³	EBI-1805484,EBI-748297 I2D: score=2
ALDOB	P05062¹^,³	EBI-1805484,EBI-1045507 I2D: score=1
ARL6	Q9H0F7¹^,³	EBI-1805484,EBI-2891949 I2D: score=1
BBS4	Q96RK4¹^,³	EBI-1805484,EBI-1805814 I2D: score=1
BBS7	Q8IWZ6¹^,³	EBI-1805484,EBI-1806001 I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001895	retina homeostasis	IMP	17980398
GO:0035058	nonmotile primary cilium assembly	IMP	17980398
GO:0042384	cilium assembly	IMP	17574030
GO:0043001	Golgi to plasma membrane protein transport	IMP	19150989
GO:0045494	photoreceptor cell maintenance	IMP	17980398

BBS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BBS1
Search CenterWatch for drugs/clinical trials and news about BBS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BBS1 gene:

NM_024649.4

Unigene Cluster for BBS1:

Bardet-Biedl syndrome 1

Hs.502915 [show with all ESTs]

Unigene Representative Sequence: AK095638

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000526760(uc001oil.1 uc001oik.1) ENST00000533644 ENST00000318312(uc010rpg.1 uc001oij.1)

ENST00000527251 ENST00000526815 ENST00000533557(uc010rpf.1) ENST00000525809

ENST00000455748 ENST00000529955(uc010rph.1) ENST00000526035 ENST00000534730

ENST00000532908 ENST00000529766 ENST00000393994 ENST00000524907 ENST00000524705

ENST00000524458 ENST00000533430

miRNA Products:		OriGene 3'-UTR Clone: BBS1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS1
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS1:
		hsa-miR-148b* hsa-miR-3938 hsa-miR-3945 hsa-miR-4277 hsa-miR-3680
		SwitchGear 3'UTR luciferase reporter plasmid: BBS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS1 (see all 7) OriGene shRNA RFP: BBS1 OriGene siRNA: BBS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: BBS1 (NM_024649)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BBS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1

Additional cDNA sequence:

AF503941.1 AK027243.1 AK095638.1 AK294962.1 AK296311.1 AK302657.1 BC047642.1 BC109064.2

BC109065.1 BX647612.1

22 DOTS entries:

DT.443759 DT.100802065 DT.120710806 DT.91732353 DT.120710798 DT.97845737 DT.95352771 DT.100802061

DT.99943549 DT.40224821 DT.95352772 DT.75157452 DT.100802063 DT.86841246 DT.102834828 DT.120710754

DT.203214 DT.91732347 DT.91674227 DT.95352764 DT.109646 DT.95290947

24/528 AceView cDNA sequences (see all 528):

CA950166 AA594571 AW182599 BU072804 AI598244 BI918271 BQ278885 AI653853

BI769955 NM_130443 CA943771 N71878 AA376205 CF265121 BI334654 BI524266

AW002200 BI818832 BI759657 AA720973 AI313411 AK021449 CB242742 BQ636867

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for BBS1 (see all 25) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18a	·	18b	^	19	^
SP1:					-				-																						-
SP2:
SP3:
SP4:
SP5:

ExUns:	20a	·	20b	^	21	^	22a	·	22b	·	22c	·	22d	^	23a	·	23b	^	24	^	25a	·	25b	^	26	^	27a	·	27b	^	28	^	29a	·	29b	^	30a	·	30b	^	31a	·	31b	·	31c	·	31d	^	32a	·	32b	^
SP1:
SP2:			-		-		-		-		-		-		-														-												-						-		-		-
SP3:															-														-												-						-		-		-
SP4:															-				-										-												-						-		-		-
SP5:															-														-												-		-		-		-		-		-

ExUns:	33a	·	33b	·	33c	·	33d	^	34	^	35	^	36a	·	36b	^	37	^	38	^	39a	·	39b	^	40a	·	40b	^	41a	·	41b
SP1:
SP2:															-								-
SP3:															-								-
SP4:															-
SP5:	-		-		-		-		-						-

ECgene alternative splicing isoforms for BBS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BBS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCTTTAGC

About this image
See BBS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BBS1

SOURCE GeneReport for Unigene cluster: Hs.502915

UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9

Tissue specificity: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart,

skeletal muscle and pancreas

SABiosciences Expression via Pathway-Focused PCR Array including BBS1:

Primary Cilia in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat BBS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BBS1 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bbs1^{1 , 5}	Bardet-Biedl syndrome 1 (human)^{1, 5}	87.24(n)¹ 92.24(a)¹		19 (4.14 cM)⁵ 52028¹ NM_001033128.3¹ NP_001028300.1¹ 4886898⁵
lizard (Anolis carolinensis)	Reptilia	--	--	66(a)	1 → many	GL344045.1(99706-124076)
zebrafish (Danio rerio)	Actinopterygii	bbs1¹	Bardet-Biedl syndrome 1	65.28(n) 67.94(a)		568986 NM_001098251.1 NP_001091721.1
fruit fly (Drosophila melanogaster)	Insecta	BBS1¹	BBS1	46.56(n) 31.42(a)		38780 NM_139823.1 NP_648080.1
worm (Caenorhabditis elegans)	Secernentea	bbs-1¹	Protein BBS-1	43.83(n) 28.85(a)		260219 NM_170937.1 NP_740933.1

ENSEMBL Gene Tree for BBS1 (if available)
TreeFam Gene Tree for BBS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BBS1 gene

ENSG00000256349²

1 SIMAP similar gene for BBS1 using alignment to 11 protein entries: BBS1_HUMAN (see all proteins):

DKFZp313N0733

BBS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917777^1,2	C,	pathogenic	68178697(+)	`CCCTGG/TAGACC`	2	E *	stg¹		0	--	--	--	--
rs113624356^1,2	C,F,	pathogenic	68184208(+)	`CATCAT/GGACCA`	2	/R /M	mis¹		2		NA	4554
rs35520756^1,2	C,F,	pathogenic	68190662(+)	`ACCCCG/AAGGCC`	2	/K /E	mis¹		9		NA NS EA WA EU	6487
rs137853913^1,2	C,F	untested	68195825(+)	`TGGCAC/GTTGCT`	2	L V	mis¹		2		NA EU	5875
rs56291132^1,2	C,	--	62604291(+)	`TCTCCA/GTCTCC`	1	--	us2k¹		2		WA	120
rs12421620^1,2	C,F,H,	--	62604330(+)	`AATACG/AAGGCG`	1	--	us2k¹		15		NS EA NA EU	7156
rs116201101^1,2	C,F,	--	62604998(+)	`ATATTA/GATTTT`	1	--	us2k¹		1		WA	118
rs113981353^1,2		--	62606336(+)	`CTCAAA/GGTTTT`	1	--	int¹		2		CSA WA	120
rs78913093^1,2	C,	--	62606435(+)	`CGACCA/CAATGG`	2	Q P	mis¹		0	--	--	--	--
rs61610137^1,2	C,F,	--	62606833(+)	`AAATAT/CTTCTG`	1	--	int¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for BBS1 (66278077 - 66301098 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BBS1: --
Human Gene Mutation Database (HGMD): BBS1

Locus Specific Mutation Databases (LSDB): BBS1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS1

DNA2.0 Custom Variant and Variant Library Synthesis for BBS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BBS1 for disorders           About GeneDecksing

OMIM gene information: 209901
OMIM disorders: 209900
UniProtKB/Swiss-Prot: BBS1_HUMAN, Q8NFJ9

Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping

clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various

organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The

ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome,

nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism

is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that

variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome

Defects in BBS1 are a cause of Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]. Bardet-Biedl syndrome (BBS)

is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity,

polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus,

hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations

of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these

populations and a founder effect. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and

a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance)

19 diseases for BBS1: About MalaCards

bardet-biedl syndrome bardet-biedl syndrome 1 mckusick-kaufman syndrome senior-loken syndrome

asphyxiating thoracic dystrophy pigmentary retinopathy tetralogy of fallot fundus dystrophy

intellectual disability meckel syndrome joubert syndrome polydactyly

maculopathy retinal degeneration retinitis hypogonadism

retinal disease obesity neuronitis

5 diseases from the University of Copenhagen DISEASES database for BBS1:

Polydactyly Fundus dystrophy Retinitis pigmentosa Intellectual disability

Hypogonadism

4 Novoseek disease relationships for BBS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bardet-biedl syndrome	97	4	18766993 (2), 12118255 (1), 17065520 (1)
polydactyly	92.1	1	18766993 (1)
retinitis pigmentosa	79.2	1	18766993 (1)
obesity	65.4	1	12118255 (1)

GeneTests: BBS1

Bardet-Biedl Syndrome

Genetic Association Database (GAD): BBS1
Human Genome Epidemiology (HuGE) Navigator: BBS1 (6 documents)

Export disorders for BBS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BBS1 gene, integrated from 9 sources (see all 45):
(articles sorted by number of sources associating them with BBS1)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (PubMed id 12567324)^{1, 2, 3, 9} Badano J.L....Katsanis N. (2003)
Identification of the gene (BBS1) most commonly involved in Bardet- Biedl syndrome, a complex human obesity syndrome. (PubMed id 12118255)^{1, 2, 9} Mykytyn K....Sheffield V.C. (2002)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PubMed id 17574030)^{1, 2} Nachury M.V....Jackson P.K. (2007)
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)^{1, 2} Badano J.L....Katsanis N. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. (PubMed id 14993910)^{1, 4} Fan Y....Davidson W.S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Evaluation of complex inheritance involving the most common Bardet- Biedl syndrome locus (BBS1). (PubMed id 12524598)^{1, 2} Mykytyn K.... Sheffield V.C. (2003)
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PubMed id 12677556)^{1, 2} Beales P.L.... Katsanis N. (2003)
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. (PubMed id 9039982)^{1, 3} Beales P.L....Flinter F.A. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 582	HGNC: 966	AceView: DPP3andBBS1	Ensembl:ENSG00000174483	euGenes: HUgn582
ECgene: BBS1	H-InvDB: BBS1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BBS1	Pharmacogenomics, SNPs, Pathways
Mutations of the BBS1 gene	http://www.retina-international.org/files/sci-news/bbs1mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS1

Intellectual Property for BBS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BBS1 gene:
Search GeneIP for patents involving BBS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for BBS1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS1
	OriGene Protein Over-expression Lysate for BBS1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for BBS1		OriGene 3'-UTR Clone for BBS1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for BBS1		OriGene Custom Protein Services for BBS1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BBS1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS1

	GenScript Custom Purified and Recombinant Proteins Services for BBS1		GenScript cDNA clones with any tag delivered in your preferred vector for BBS1
	GenScript Custom Assay Services for BBS1		GenScript Custom Superior Antibodies Services for BBS1
	GenScript Custom overexpressing Cell Line Services for BBS1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in BBS1 promoter
	Search Chromatin IP Primers for BBS1
	RT² qPCR Primer Assay in human, mouse, rat BBS1
	GNC Network for BBS1
	SABiosciences PCR Arrays including human, mouse, rat BBS1

Search Tocris compounds for BBS1

	Browse Sino Biological Proteins and Antibodies
	cDNA Clones for BBS1
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	BBS1 antibodies
	BBS1 proteins
	BBS1 lysates

	Antibodies for BBS1
	See all of Abcam's Antibodies, Kits and Proteins for BBS1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

BBS1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for BBS1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS1

	SwitchGear 3'UTR luciferase reporter plasmids for BBS1
	SwitchGear Promoter luciferase reporter plasmids for BBS1

Search ThermoFisher Antibodies for BBS1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes BBS1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

BBS1 Gene

Bardet-Biedl syndrome 1

Aliases
for BBS1 gene

Summaries
for BBS1 gene

Genomic Views
for BBS1 gene

Proteins
for BBS1 gene

Protein Domains /
Families
for BBS1 gene

Function
for BBS1 gene

Pathways & Interactions
for BBS1 gene

Drugs & Compounds
for BBS1 gene

Transcripts
for BBS1 gene

Expression
for BBS1 gene

Orthologs
for BBS1 gene

Paralogs
for BBS1 gene

Genomic Variants
for BBS1 gene

Disorders / Diseases
for BBS1 gene

Publications
for BBS1 gene

External Searches for BBS1 gene

Genome Databases showing BBS1 gene

Other Databases showing BBS1 gene

Specialized Databases showing BBS1 gene

Intellectual Property
for BBS1 gene

Products
for BBS1 gene

View Random Gene

Advanced Search

Export list of displayed genes

BBS1 Gene

Bardet-Biedl syndrome 1

Aliasesfor BBS1 gene

Summariesfor BBS1 gene

Genomic Viewsfor BBS1 gene

Proteinsfor BBS1 gene

Protein Domains /Familiesfor BBS1 gene

Functionfor BBS1 gene

Pathways & Interactionsfor BBS1 gene

Drugs & Compoundsfor BBS1 gene

Transcriptsfor BBS1 gene

Expression for BBS1 gene

Orthologsfor BBS1 gene

Paralogsfor BBS1 gene

Genomic Variantsfor BBS1 gene

Disorders / Diseasesfor BBS1 gene

Publicationsfor BBS1 gene

External Searches for BBS1 gene

Genome Databases showing BBS1 gene

Other Databases showing BBS1 gene

Specialized Databases showing BBS1 gene

Intellectual Propertyfor BBS1 gene

Productsfor BBS1 gene

View Random Gene

Aliases
for BBS1 gene

Summaries
for BBS1 gene

Genomic Views
for BBS1 gene

Proteins
for BBS1 gene

Protein Domains /
Families
for BBS1 gene

Function
for BBS1 gene

Pathways & Interactions
for BBS1 gene

Drugs & Compounds
for BBS1 gene

Transcripts
for BBS1 gene

Expression
for BBS1 gene

Orthologs
for BBS1 gene

Paralogs
for BBS1 gene

Genomic Variants
for BBS1 gene

Disorders / Diseases
for BBS1 gene

Publications
for BBS1 gene

Intellectual Property
for BBS1 gene

Products
for BBS1 gene