Human Gene BBS1 (ENST00000318312.12) from GENCODE V44
  Description: Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. (from RefSeq NM_024649)
RefSeq Summary (NM_024649): 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].
Gencode Transcript: ENST00000318312.12
Gencode Gene: ENSG00000174483.20
Transcript (Including UTRs)
   Position: hg38 chr11:66,510,635-66,533,598 Size: 22,964 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr11:66,510,660-66,532,037 Size: 21,378 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:66,510,635-66,533,598)mRNA (may differ from genome)Protein (593 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BBS1_HUMAN
DESCRIPTION: RecName: Full=Bardet-Biedl syndrome 1 protein; AltName: Full=BBS2-like protein 2;
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.
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.
INTERACTION: P05062:ALDOB; NbExp=4; IntAct=EBI-1805484, EBI-1045507; Q9H0F7:ARL6; NbExp=4; IntAct=EBI-1805484, EBI-2891949; Q9BXC9:BBS2; NbExp=6; IntAct=EBI-1805484, EBI-748297; Q96RK4:BBS4; NbExp=5; IntAct=EBI-1805484, EBI-1805814; Q8IWZ6:BBS7; NbExp=6; IntAct=EBI-1805484, EBI-1806001; Q3SYG4:BBS9; NbExp=6; IntAct=EBI-1805484, EBI-2826852; P68104:EEF1A1; NbExp=3; IntAct=EBI-1805484, EBI-352162; P48356-1:Lepr (xeno); NbExp=3; IntAct=EBI-1805484, EBI-6143588; Q15154:PCM1; NbExp=2; IntAct=EBI-1805484, EBI-741421; Q96QF0-1:RAB3IP; NbExp=2; IntAct=EBI-1805484, EBI-747860;
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm.
TISSUE SPECIFICITY: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
DISEASE: 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.
DISEASE: 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).
WEB RESOURCE: Name=Mutations of the BBS1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/bbs1mut.htm";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BBS1
Diseases sorted by gene-association score: bardet-biedl syndrome 1* (1284), bardet-biedl syndrome* (972), bardet-biedl syndrome 11* (240), bardet-biedl syndrome 2* (133), bardet-biedl syndrome 12* (121), bardet-biedl syndrome 10* (121), bbs1-related bardet-biedl syndrome* (100), bardet-biedl syndrome 3 (19), ciliopathy (15), bbs10-related bardet-biedl syndrome (13), mckusick-kaufman syndrome (13), polydactyly (12), bardet-biedl syndrome 17 (12), bardet-biedl syndrome 6 (11), bardet-biedl syndrome 14 (10), bardet-biedl syndrome 16 (10), nonsyndromic retinitis pigmentosa (9), bardet-biedl syndrome 13 (7), bardet-biedl syndrome 8 (7), bardet-biedl syndrome 4 (6), alstrom syndrome (5), bardet-biedl syndrome 18 (5), asphyxiating thoracic dystrophy (4), obesity (4), retinitis pigmentosa (2), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.56 RPKM in Brain - Cerebellum
Total median expression: 31.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.0025-0.240 Picture PostScript Text
3' UTR -503.201561-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom

ModBase Predicted Comparative 3D Structure on Q8NFJ9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005113 patched binding
GO:0005119 smoothened binding
GO:0005515 protein binding

Biological Process:
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0015031 protein transport
GO:0030030 cell projection organization
GO:0043001 Golgi to plasma membrane protein transport
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0016020 membrane
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  AK027645 - Homo sapiens cDNA FLJ14739 fis, clone NT2RP3002402.
AK095638 - Homo sapiens cDNA FLJ38319 fis, clone FCBBF3024002.
BX647612 - Homo sapiens mRNA; cDNA DKFZp313N0733 (from clone DKFZp313N0733).
AK302657 - Homo sapiens cDNA FLJ55644 complete cds, highly similar to Bardet-Biedl syndrome 1 protein.
AK294962 - Homo sapiens cDNA FLJ52492 complete cds, highly similar to Bardet-Biedl syndrome 1 protein.
AK296311 - Homo sapiens cDNA FLJ54009 complete cds, highly similar to Bardet-Biedl syndrome 1 protein.
BC047642 - Homo sapiens Bardet-Biedl syndrome 1, mRNA (cDNA clone MGC:51114 IMAGE:4824649), complete cds.
AF503941 - Homo sapiens Bardet-Biedl syndrome 1 (BBS1) mRNA, complete cds.
BC109064 - Homo sapiens Bardet-Biedl syndrome 1, mRNA (cDNA clone MGC:126183 IMAGE:40033833), complete cds.
BC109065 - Homo sapiens Bardet-Biedl syndrome 1, mRNA (cDNA clone MGC:126184 IMAGE:40033834), complete cds.
KJ890757 - Synthetic construct Homo sapiens clone ccsbBroadEn_00151 BBS1 gene, encodes complete protein.
KR711868 - Synthetic construct Homo sapiens clone CCSBHm_00031500 BBS1 (BBS1) mRNA, encodes complete protein.
KR711869 - Synthetic construct Homo sapiens clone CCSBHm_00031505 BBS1 (BBS1) mRNA, encodes complete protein.
KR711870 - Synthetic construct Homo sapiens clone CCSBHm_00031510 BBS1 (BBS1) mRNA, encodes complete protein.
KR711871 - Synthetic construct Homo sapiens clone CCSBHm_00031516 BBS1 (BBS1) mRNA, encodes complete protein.
AK027243 - Homo sapiens cDNA: FLJ23590 fis, clone LNG14491.
JD170341 - Sequence 151365 from Patent EP1572962.
JD450725 - Sequence 431749 from Patent EP1572962.
JD107102 - Sequence 88126 from Patent EP1572962.
JD253815 - Sequence 234839 from Patent EP1572962.
JD137643 - Sequence 118667 from Patent EP1572962.
JD200927 - Sequence 181951 from Patent EP1572962.
JD550573 - Sequence 531597 from Patent EP1572962.
JD242151 - Sequence 223175 from Patent EP1572962.
JD240592 - Sequence 221616 from Patent EP1572962.
JD411748 - Sequence 392772 from Patent EP1572962.
JD127065 - Sequence 108089 from Patent EP1572962.
JD299934 - Sequence 280958 from Patent EP1572962.
JD401017 - Sequence 382041 from Patent EP1572962.
JD181394 - Sequence 162418 from Patent EP1572962.
JD360206 - Sequence 341230 from Patent EP1572962.
JD302639 - Sequence 283663 from Patent EP1572962.
JD041456 - Sequence 22480 from Patent EP1572962.
JD561934 - Sequence 542958 from Patent EP1572962.
JD108402 - Sequence 89426 from Patent EP1572962.
JD229594 - Sequence 210618 from Patent EP1572962.
JD038196 - Sequence 19220 from Patent EP1572962.
JD068483 - Sequence 49507 from Patent EP1572962.
JD177757 - Sequence 158781 from Patent EP1572962.
JD469034 - Sequence 450058 from Patent EP1572962.
JD074715 - Sequence 55739 from Patent EP1572962.
JD548880 - Sequence 529904 from Patent EP1572962.
JD437998 - Sequence 419022 from Patent EP1572962.
JD149093 - Sequence 130117 from Patent EP1572962.
JD187792 - Sequence 168816 from Patent EP1572962.
JD377325 - Sequence 358349 from Patent EP1572962.
JD229653 - Sequence 210677 from Patent EP1572962.
JD535923 - Sequence 516947 from Patent EP1572962.
JD098924 - Sequence 79948 from Patent EP1572962.
JD370721 - Sequence 351745 from Patent EP1572962.
JD428199 - Sequence 409223 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NFJ9 (Reactome details) participates in the following event(s):

R-HSA-5624125 Formation of the BBSome
R-HSA-5617815 BBSome binds RAB3IP
R-HSA-5624126 ARL6:GTP and the BBSome bind ciliary cargo
R-HSA-5624129 LZTFL1 binds the BBSome and prevents its traffic to the cilium
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: BBS1_HUMAN, BBS2L2, ENST00000318312.1, ENST00000318312.10, ENST00000318312.11, ENST00000318312.2, ENST00000318312.3, ENST00000318312.4, ENST00000318312.5, ENST00000318312.6, ENST00000318312.7, ENST00000318312.8, ENST00000318312.9, NM_024649, Q32MN0, Q8NFJ9, Q96SN4, uc001oij.1, uc001oij.2, uc001oij.3
UCSC ID: ENST00000318312.12
RefSeq Accession: NM_024649
Protein: Q8NFJ9 (aka BBS1_HUMAN)
CCDS: CCDS8142.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BBS1:
bbs (Bardet-Biedl Syndrome Overview)
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.