Human Gene BBS10 (ENST00000650064.2_7) from GENCODE V47lift37
  Description: Bardet-Biedl syndrome 10 (from RefSeq NM_024685.4)
Gencode Transcript: ENST00000650064.2_7
Gencode Gene: ENSG00000179941.9_11
Transcript (Including UTRs)
   Position: hg19 chr12:76,738,254-76,742,195 Size: 3,942 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr12:76,739,593-76,742,138 Size: 2,546 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:76,738,254-76,742,195)mRNA (may differ from genome)Protein (723 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BBS10_HUMAN
DESCRIPTION: RecName: Full=Bardet-Biedl syndrome 10 protein;
FUNCTION: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.
SUBUNIT: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.
INTERACTION: Q6ZW61:BBS12; NbExp=5; IntAct=EBI-6128013, EBI-6128352; Q8IWZ6:BBS7; NbExp=4; IntAct=EBI-6128013, EBI-1806001; Q3SYG4:BBS9; NbExp=2; IntAct=EBI-6128013, EBI-2826852;
SUBCELLULAR LOCATION: Cell projection, cilium. Note=Located within the basal body of the primary cilium of differentiating preadipocytes.
DISEASE: Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
MISCELLANEOUS: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS.
SIMILARITY: Belongs to the TCP-1 chaperonin family.
SEQUENCE CAUTION: Sequence=AAH13795.1; Type=Erroneous initiation; Sequence=BAB15695.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS10";

-  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: BBS10
Diseases sorted by gene-association score: bardet-biedl syndrome 10* (1265), bardet-biedl syndrome* (429), short-rib thoracic dysplasia 3 with or without polydactyly* (200), bardet-biedl syndrome 11* (170), bardet-biedl syndrome 2* (141), bbs10-related bardet-biedl syndrome* (118), bardet-biedl syndrome 12* (115), bardet-biedl syndrome 1* (111), rhyns syndrome* (89), retinitis pigmentosa* (63), bardet-biedl syndrome 19 (12), bardet-biedl syndrome 14 (8), obesity (7), bardet-biedl syndrome 8 (6), bardet-biedl syndrome 13 (5), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.7057-0.205 Picture PostScript Text
3' UTR -247.601339-0.185 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
IPR002423 - Cpn60/TCP-1

Pfam Domains:
PF00118 - TCP-1/cpn60 chaperonin family

SCOP Domains:
48592 - GroEL equatorial domain-like
52029 - GroEL apical domain-like
54849 - GroEL-intermediate domain like

ModBase Predicted Comparative 3D Structure on Q8TAM1
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
GO:0005524 ATP binding

Biological Process:
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0043254 regulation of protein complex assembly
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
GO:0051131 chaperone-mediated protein complex assembly
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005929 cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  JF432744 - Synthetic construct Homo sapiens clone IMAGE:100073988 Bardet-Biedl syndrome 10 (BBS10) gene, encodes complete protein.
KJ903214 - Synthetic construct Homo sapiens clone ccsbBroadEn_12608 BBS10 gene, encodes complete protein.
KJ903215 - Synthetic construct Homo sapiens clone ccsbBroadEn_12609 BBS10 gene, encodes complete protein.
KR709459 - Synthetic construct Homo sapiens clone CCSBHm_00002448 BBS10 (BBS10) mRNA, encodes complete protein.
KR709460 - Synthetic construct Homo sapiens clone CCSBHm_00002452 BBS10 (BBS10) mRNA, encodes complete protein.
KR709461 - Synthetic construct Homo sapiens clone CCSBHm_00002458 BBS10 (BBS10) mRNA, encodes complete protein.
KR709462 - Synthetic construct Homo sapiens clone CCSBHm_00002463 BBS10 (BBS10) mRNA, encodes complete protein.
AK027213 - Homo sapiens cDNA: FLJ23560 fis, clone LNG09857.
AK225585 - Homo sapiens mRNA for hypothetical protein LOC79738 variant, clone: LNG09857.
BC026355 - Homo sapiens Bardet-Biedl syndrome 10, mRNA (cDNA clone MGC:26830 IMAGE:4817227), complete cds.
BC013795 - Homo sapiens Bardet-Biedl syndrome 10, mRNA (cDNA clone IMAGE:3919095), complete cds.
LF208886 - JP 2014500723-A/16389: Polycomb-Associated Non-Coding RNAs.
JD245296 - Sequence 226320 from Patent EP1572962.
JD257860 - Sequence 238884 from Patent EP1572962.
LF323754 - JP 2014500723-A/131257: Polycomb-Associated Non-Coding RNAs.
JD522025 - Sequence 503049 from Patent EP1572962.
JD501722 - Sequence 482746 from Patent EP1572962.
AK304178 - Homo sapiens cDNA FLJ61630 complete cds, highly similar to Bardet-Biedl syndrome 10 protein.
JD245391 - Sequence 226415 from Patent EP1572962.
JD077042 - Sequence 58066 from Patent EP1572962.
CU693232 - Synthetic construct Homo sapiens gateway clone IMAGE:100019985 5' read BBS10 mRNA.
LF323753 - JP 2014500723-A/131256: Polycomb-Associated Non-Coding RNAs.
JD064918 - Sequence 45942 from Patent EP1572962.
JD125994 - Sequence 107018 from Patent EP1572962.
MA559331 - JP 2018138019-A/131257: Polycomb-Associated Non-Coding RNAs.
MA559330 - JP 2018138019-A/131256: Polycomb-Associated Non-Coding RNAs.
MA444463 - JP 2018138019-A/16389: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BBS10_HUMAN, C12orf58, ENST00000650064.1, NM_024685, Q8TAM1, Q96CW2, Q9H5D2, uc328rbe.1, uc328rbe.2
UCSC ID: ENST00000650064.2_7
RefSeq Accession: NM_024685.4
Protein: Q8TAM1 (aka BBS10_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BBS10:
bbs (Bardet-Biedl Syndrome Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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