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Tbio
B9D1
B9 domain-containing protein 1

Protein Summary
Description
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000261499
  • ENSP00000261499
  • ENSG00000108641
  • ENST00000268841
  • ENSP00000268841

Symbol
  • MKSR1
  • B9
  • MKS9
  • EPPB9
  • MKSR1
  • JBTS27
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.83
disease perturbation
0.74
phenotype
0.74
transcription factor binding site profile
0.74
kinase perturbation
0.66


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 7.78   (req: < 5)
Gene RIFs: 4   (req: <= 3)
Antibodies: 69   (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: 7.78   (req: >= 5)
Gene RIFs: 4   (req: > 3)
Antibodies: 69   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
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 (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
1
1
1
50.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
1
50.3
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
B9 domain containing 1
VGNC:9220
742196
Mouse
MGI:1351471
27078
Rat
RGD:11475921
108348055
Horse
B9 domain containing 1
VGNC:15747
100063389
Cow
B9 domain containing 1
VGNC:26396
505335
Species
Name
OMA
EggNOG
Inparanoid
Chimp
B9 domain containing 1
Mouse
Rat
Horse
B9 domain containing 1
Cow
B9 domain containing 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9UPM9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (5)
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

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

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring of the basal body to the plasma membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
Anchoring of the basal body to the plasma membrane
Cilium Assembly
Organelle biogenesis and maintenance
Gene Ontology Terms (16)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Protein-Protein Interactions (162)
1 – 10 of 162
B9D2
Tbio
Novelty: 0.11310836
p_int: 0.999999887
p_ni: 1.12e-7
p_wrong: 1e-9
Score: 0.989
Data Source: BioPlex,STRINGDB
TMEM231
Tbio
Novelty: 0.17100188
p_int: 0.999998824
p_ni: 8.72e-7
p_wrong: 3.04e-7
Score: 0.984
Data Source: BioPlex,STRINGDB
BFSP1
Tbio
Novelty: 0.01519136
p_int: 0.934215159
p_ni: 0.000027997
p_wrong: 0.065756844
Data Source: BioPlex
CRYGN
Tdark
Novelty: 0.29650893
p_int: 0.77998549
p_ni: 0.000028167
p_wrong: 0.219986343
Data Source: BioPlex
CC2D2A
Tbio
Novelty: 0.03684487
Score: 0.993
Data Source: STRINGDB
TMEM216
Tbio
Novelty: 0.07870718
Score: 0.989
Data Source: STRINGDB
TMEM67
Tbio
Novelty: 0.02573267
Score: 0.986
Data Source: STRINGDB
CEP290
Tbio
Novelty: 0.00526375
Score: 0.985
Data Source: STRINGDB
NPHP4
Tbio
Novelty: 0.02873746
Score: 0.984
Data Source: STRINGDB
TCTN2
Tbio
Novelty: 0.11617528
Score: 0.981
Data Source: STRINGDB
Publication Statistics
PubMed Score  7.78

PubMed score by year
PubTator Score  3.2

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