Human Gene RTTN (ENST00000640769.2_11) from GENCODE V47lift37

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Description: rotatin, transcript variant 1 (from RefSeq NM_173630.4)
Gencode Transcript: ENST00000640769.2_11
Gencode Gene: ENSG00000176225.15_18
Transcript (Including UTRs)
Position: hg19 chr18:67,670,267-67,872,923 Size: 202,657 Total Exon Count: 49 Strand: -
Coding Region
Position: hg19 chr18:67,671,387-67,872,894 Size: 201,508 Coding Exon Count: 49

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA Structure	Protein Structure	Other Species	GO Annotations	mRNA Descriptions
Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr18:67,670,267-67,872,923)			mRNA (may differ from genome)		Protein (2226 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
Malacards	MGI	OMIM	PubMed	UniProtKB	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: RTTN_HUMAN 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;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

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 D000082 Acetaminophen D002117 Calcitriol D006861 Hydrogen Peroxide D010634 Phenobarbital D013739 Testosterone D013749 Tetrachlorodibenzodioxin C015001 arsenite C045651 epigallocatechin gallate C027373 potassium chromate(VI) C025643 vinclozolin

Common Gene Haplotype Alleles


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-3.30	29	-0.114	Picture	PostScript	Text
3' UTR	-313.20	1120	-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

Pfam Domains:
PF14726 - Rotatin, an armadillo repeat protein, centriole functioning

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q86VV8


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

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). AK126538 - Homo sapiens cDNA FLJ44574 fis, clone UTERU3018081. 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. 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. BC013774 - Homo sapiens rotatin, mRNA (cDNA clone IMAGE:4385350), partial cds. JX424573 - Homo sapiens RTTN mRNA, partial cds. AK096404 - Homo sapiens cDNA FLJ39085 fis, clone NT2RP7019064.

Other Names for This Gene


	Alternate Gene Symbols: ENST00000640769.1, NM_173630, Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q86VV8, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4, RTTN , RTTN_HUMAN, uc328gqg.1, uc328gqg.2 UCSC ID: ENST00000640769.2_11 RefSeq Accession: NM_173630.4 Protein: Q86VV8 (aka RTTN_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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