RUBCN

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]

Description

Rubicon autophagy regulator

Tissue specificity

Tissue enhanced (brain)

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (197668867 - 197749727)

Ensembl ID

ENSG00000145016  (ver. 103.38)

Orthologs

Mouse Rubcn: ENSMUSG00000035629

UniProt

Q92622

neXtProt

NX_Q92622

Human splice variants
Mouse splice variants

Protein structure