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Tbio
MKKS
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Protein Summary
Description
Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (PubMed:28753627). This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000347364
  • ENSP00000246062
  • ENSG00000125863
  • ENST00000399054
  • ENSP00000382008

Symbol
  • BBS6
  • KMS
  • MKS
  • BBS6
  • HMCS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.99
biological process
0.97
molecular function
0.88
transcription factor perturbation
0.84
histone modification site profile
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 117.87   (req: < 5)
Gene RIFs: 18   (req: <= 3)
Antibodies: 134   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 117.87   (req: >= 5)
Gene RIFs: 18   (req: > 3)
Antibodies: 134   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 39
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
pulse pressure measurement
1
1
1
82.8
heel bone mineral density
2
1
4
82.2
BMI-adjusted fasting blood glucose measurement
1
1
1
24.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
pulse pressure measurement
1
82.8
heel bone mineral density
4
82.2
BMI-adjusted fasting blood glucose measurement
1
24.5
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
McKusick-Kaufman syndrome
458098
Macaque
McKusick-Kaufman syndrome
718547
Mouse
MGI:1891836
59030
Rat
RGD:1308814
311456
Dog
McKusick-Kaufman syndrome
485771
Species
Name
OMA
EggNOG
Inparanoid
Chimp
McKusick-Kaufman syndrome
Macaque
McKusick-Kaufman syndrome
Mouse
Rat
Dog
McKusick-Kaufman syndrome
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9NPJ1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (5)
BBSome-mediated cargo-targeting to cilium (R-HSA-5620922)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
BBSome-mediated cargo-targeting to cilium
Reactome
Cargo trafficking to the periciliary membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
BBSome-mediated cargo-targeting to cilium
Cargo trafficking to the periciliary membrane
Cilium Assembly
Organelle biogenesis and maintenance
Protein-Protein Interactions (121)
1 – 10 of 121
BBS12
Tbio
Novelty:  0.06131428
p_int:  0.99999924
p_ni:  9e-9
p_wrong:  7.51e-7
Score:  0.994
Data Source:  BioPlex,STRINGDB
EEF1G
Tbio
Novelty:  0.01473013
p_int:  0.999998311
p_ni:  1.73e-7
p_wrong:  0.000001516
Score:  0.911
Data Source:  BioPlex,STRINGDB
BBS10
Tbio
Novelty:  0.03343798
Score:  0.997
Data Source:  STRINGDB
CCT2
Tbio
Novelty:  0.01967139
Score:  0.995
Data Source:  STRINGDB
CCT3
Tbio
Novelty:  0.01642521
Score:  0.994
Data Source:  STRINGDB
CCT4
Tbio
Novelty:  0.01176123
Score:  0.992
Data Source:  STRINGDB
CCT5
Tbio
Novelty:  0.02369118
Score:  0.991
Data Source:  STRINGDB
CCT8
Tbio
Novelty:  0.03168289
Score:  0.986
Data Source:  STRINGDB
BBS1
Tbio
Novelty:  0.00939439
Score:  0.979
Data Source:  STRINGDB
BBS7
Tbio
Novelty:  0.03611111
Score:  0.974
Data Source:  STRINGDB
Publication Statistics
PubMed Score  117.87

PubMed score by year
PubTator Score  75.1

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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