Tbio RTTN Rotatin

Protein Summary

Description

Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2. This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

Uniprot Accession IDs

• Q86VV8
• Q68CS9
• Q6ZRL8
• Q6ZTK3
• Q86TG4
• Q8N8N8
• Q8TBQ4
• Q96IN9
• Q9UFJ4

Gene Name

• RTTN

Ensembl ID

• ENST00000255674
• ENSP00000255674
• ENSG00000176225
• ENST00000640769
• ENSP00000491507

Symbol

• MSSP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.89
transcription factor binding site profile	0.89
virus perturbation	0.83
cell line	0.71
gene perturbation	0.65

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: 27.95   (req: < 5)

Gene RIFs: 10   (req: <= 3)

Antibodies: 21   (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: 27.95   (req: >= 5)

Gene RIFs: 10   (req: > 3)

Antibodies: 21   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

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