Human Gene RTTN (ENST00000640769.2) Description and Page Index
  Description: Homo sapiens rotatin (RTTN), transcript variant 1, mRNA. (from RefSeq NM_173630)
RefSeq Summary (NM_173630): 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].
Gencode Transcript: ENST00000640769.2
Gencode Gene: ENSG00000176225.14
Transcript (Including UTRs)
   Position: hg38 chr18:70,003,031-70,205,687 Size: 202,657 Total Exon Count: 49 Strand: -
Coding Region
   Position: hg38 chr18:70,004,151-70,205,658 Size: 201,508 Coding Exon Count: 49 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr18:70,003,031-70,205,687)mRNA (may differ from genome)Protein (2226 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Rotatin;
FUNCTION: Involved in the genetic cascade that governs left-right specification. Required for correct asymmetric expression of NODAL, LEFTY and PITX2 (By similarity).
SEQUENCE CAUTION: Sequence=BAC86583.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC87292.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC87292.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAH18659.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  MalaCards Disease Associations
  MalaCards Gene Search: RTTN
Diseases sorted by gene-association score: microcephaly, short stature, and polymicrogyria with seizures* (1650), polymicrogyria (19), microcephaly (5), seckel syndrome (4), growth hormone deficiency, isolated, type ia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.61 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 99.44 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.3029-0.114 Picture PostScript Text
3' UTR -313.201120-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold

ModBase Predicted Comparative 3D Structure on Q86VV8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007275 multicellular organism development
GO:0007368 determination of left/right symmetry
GO:0044782 cilium organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0036064 ciliary basal body
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  BC047602 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:5556040), partial cds.
CR749799 - Homo sapiens mRNA; cDNA DKFZp686B07186 (from clone DKFZp686B07186).
AK128137 - Homo sapiens cDNA FLJ46258 fis, clone TESTI4024245.
BC143723 - Homo sapiens cDNA clone IMAGE:9052237.
BC156291 - Synthetic construct Homo sapiens clone IMAGE:100061722, MGC:190083 rotatin (RTTN) mRNA, encodes complete protein.
BC013774 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:4385350), partial cds.
JD143566 - Sequence 124590 from Patent EP1572962.
JD510566 - Sequence 491590 from Patent EP1572962.
BC026879 - Homo sapiens, clone IMAGE:4455574, mRNA, partial cds.
BC007359 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:3622437), partial cds.
BC046931 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:3623202), partial cds.
AL117635 - Homo sapiens mRNA; cDNA DKFZp434G145 (from clone DKFZp434G145).
BC046222 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:6198495), partial cds.
AK129866 - Homo sapiens cDNA FLJ26356 fis, clone HRT05041.
AK126538 - Homo sapiens cDNA FLJ44574 fis, clone UTERU3018081.
JD276126 - Sequence 257150 from Patent EP1572962.
JX424573 - Homo sapiens RTTN mRNA, partial cds.
AK096404 - Homo sapiens cDNA FLJ39085 fis, clone NT2RP7019064.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_173630, Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q86VV8, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4, RTTN_HUMAN, uc002lkp.1, uc002lkp.2, uc002lkp.3, uc002lkp.4, uc002lkp.5, uc002lkp.6
UCSC ID: uc002lkp.6
RefSeq Accession: NM_173630
Protein: Q86VV8 (aka RTTN_HUMAN)
CCDS: CCDS42443.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.