Human Gene ARL13B (ENST00000471138.5) from GENCODE V44
Description: Interacts with PIFO. (from UniProt Q3SXY8) RefSeq Summary (NM_182896): This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Gencode Transcript: ENST00000471138.5 Gencode Gene: ENSG00000169379.17 Transcript (Including UTRs) Position: hg38 chr3:93,980,155-94,054,069 Size: 73,915 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr3:93,980,424-94,053,263 Size: 72,840 Coding Exon Count: 10
ID:AR13B_HUMAN DESCRIPTION: RecName: Full=ADP-ribosylation factor-like protein 13B; AltName: Full=ADP-ribosylation factor-like protein 2-like 1; Short=ARL2-like protein 1; SUBUNIT: Interacts with PIFO. DISEASE: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8) [MIM:612291]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. SIMILARITY: Belongs to the small GTPase superfamily. Arf family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARL13B";
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.
Pfam Domains: PF00025 - ADP-ribosylation factor family
ModBase Predicted Comparative 3D Structure on Q3SXY8
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.