Version 5.4
Homo sapiens Protein: RTTN
Summary
InnateDB Protein IDBP-4821.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RTTN
Protein Name rotatin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000255674
InnateDB Gene IDBG-4819 (RTTN)
Protein Structure
UniProt Annotation
Function 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. {ECO:0000269PubMed:22939636}.
Subcellular Localization Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:22939636}. Note=Colocalizes with the basal bodies at the primary cilium.
Disease Associations Polymicrogyria with seizures (PMGYS) [MIM:614833]: A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYS patients have moderate to severe mental retardation, poor speech, dysarthria and seizures. {ECO:0000269PubMed:22939636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
Biological Process
GO:0007368 determination of left/right symmetry
Cellular Component
GO:0005737 cytoplasm
GO:0036064 ciliary basal body
Protein Structure and Domains
PDB ID
InterPro IPR016024 Armadillo-type fold
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86VV8
PhosphoSite PhosphoSite-Q86VV8
TrEMBL
UniProt Splice Variant
Entrez Gene 25914
UniGene Hs.717904
RefSeq NP_775901
HUGO HGNC:18654
OMIM 610436
CCDS CCDS42443
HPRD 11525
IMGT
EMBL AC011930 AC021701 AK096404 AK126538 AK128137 AL117635 BC007359 BC026879 BC046222 BC047602 CR749799
GenPept AAH07359 AAH26879 AAH46222 AAH47602 BAC86583 BAC87292 CAB56025 CAH18659

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca