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Tbio
OFD1
Oral-facial-digital syndrome 1 protein

Protein Summary
Description
Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity). This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000340096
  • ENSP00000344314
  • ENSG00000046651
  • ENST00000380550
  • ENSP00000369923

Symbol
  • CXorf5
  • RP23
  • 71-7A
  • SGBS2
  • CXorf5
  • JBTS10
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.92
cellular component
0.81
virus perturbation
0.79
transcription factor perturbation
0.74
phenotype
0.71


Protein Classes
No PANTHER Classes or DTO Classes found
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: 107.6   (req: < 5)
Gene RIFs: 29   (req: <= 3)
Antibodies: 77   (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: 107.6   (req: >= 5)
Gene RIFs: 29   (req: > 3)
Antibodies: 77   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
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
Thumbnail image for 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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (246)
FOPNL
Tbio
Novelty:  0.07640992
p_int:  0.999999876
p_ni:  1.23e-7
p_wrong:  1e-9
Score:  0.798
Data Source:  BioPlex,STRINGDB
DISC1
Tbio
Novelty:  0.00183442
p_int:  0.999998006
p_ni:  0.000001994
Data Source:  BioPlex
USP28
Tchem
Family:  Enzyme
Novelty:  0.02432294
p_int:  0.999966742
p_ni:  0.000033258
Data Source:  BioPlex
ENSA
Tbio
Novelty:  0.01642444
p_int:  0.999725561
p_ni:  0.000274433
p_wrong:  6e-9
Score:  0.163
Data Source:  BioPlex,STRINGDB
MIS18A
Tbio
Novelty:  0.08143008
p_int:  0.998122724
p_ni:  0.001877151
p_wrong:  1.25e-7
Score:  0.315
Data Source:  BioPlex,STRINGDB
SKP2
Tbio
Family:  Enzyme
Novelty:  0.00182658
p_int:  0.994468229
p_ni:  0.005529319
p_wrong:  0.000002453
Data Source:  BioPlex
CYTH4
Tbio
Novelty:  0.05783135
p_int:  0.987777532
p_ni:  0.012221864
p_wrong:  6.04e-7
Data Source:  BioPlex
NDEL1
Tbio
Novelty:  0.01241819
p_int:  0.976709554
p_ni:  0.023056051
p_wrong:  0.000234395
Score:  0.385
Data Source:  BioPlex,STRINGDB
NCAPH2
Tbio
Novelty:  0.12134933
p_int:  0.896108265
p_ni:  0.009848062
p_wrong:  0.094043673
Data Source:  BioPlex
THSD4
Tbio
Novelty:  0.12898073
p_int:  0.883635463
p_ni:  0.114689886
p_wrong:  0.001674651
Score:  0.169
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (24)
AURKA Activation by TPX2 (R-HSA-8854518)

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Find Similar Targets
Items per page:
1 – 5 of 19
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
AURKA Activation by TPX2
Reactome
Anchoring of the basal body to the plasma membrane
Reactome
Cell Cycle
Reactome
Cell Cycle, Mitotic
Reactome
Centrosome maturation
Name
Explore in Pharos
Explore in Source
AURKA Activation by TPX2
Anchoring of the basal body to the plasma membrane
Cell Cycle
Cell Cycle, Mitotic
Centrosome maturation
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
1
1
44.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
44.2
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
OFD1, centriole and centriolar satellite protein
VGNC:10467
465498
Macaque
OFD1, centriole and centriolar satellite protein
711677
Mouse
MGI:1350328
237222
Rat
RGD:1562231
302661
Dog
OFD1, centriole and centriolar satellite protein
VGNC:44103
480841
Species
Name
OMA
EggNOG
Inparanoid
Chimp
OFD1, centriole and centriolar satellite protein
Macaque
OFD1, centriole and centriolar satellite protein
Mouse
Rat
Dog
OFD1, centriole and centriolar satellite protein
Publication Statistics
PubMed Score 107.60
PubMed score by year
PubTator Score 69.71
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title