Details for gene: KIAA0226


The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]


Symbol
KIAA0226
Name
rubicon autophagy regulator
Entrez ID
9711
Ensembl ID
ENSG00000145016    (more details)
KEGG ID
has:9711    (more details)
OMIM ID
613516
Uniprot ID
Q8N4U6  
GO ID
has:9711    (more details)
Chromosome
3
Strand
-1
Start
197668867
End
197749820
miRNA Interactions
Involved Diseases
Posterior capsule opacification (PCO) /
Involved Pathways
NCAM signaling for neurite out-growth / RAF/MAP kinase cascade / MHC class II antigen presentation / Interaction between L1 and Ankyrins / COPI-mediated anterograde transport /
Sequence

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