Basic Information

Symbol
RUBCN
RNA class
mRNA
Alias
Rubicon Autophagy Regulator KIAA0226 Rubicon Rundataxin Run Domain Beclin-1-Interacting And Cysteine-Rich Domain-Containing Protein RUN And Cysteine Rich Domain Containing Beclin 1 Interacting Protein Beclin-1 Associated RUN Domain Containing Protein Baron RUN Domain And Cysteine-Rich Domain Containing, Beclin 1-Interacting Protein SCAR15
Location (GRCh38)
3:197668867-197749727
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_014687.4
Sequence length
9255.0 nt
GC content
0.4955

Transcripts

ID Sequence Length GC content
NM_001145642.5 NCBI
GCCACCGACACUCGCGGGCGACCAGAGCGGCCCCGCGCCGUGACUCGCU… 9602 nt 0.4948
NM_001346873.2 NCBI
GUGGCCGGGAUAGAAGCCGCAGCCCAGGCGGCGGUCCCUCCCGCUGUCG… 9372 nt 0.4953
NM_014687.4 NCBI
GUGGCCGGGAUAGAAGCCGCAGCCCAGGCGGCGGUCCCUCCCGCUGUCG… 9255 nt 0.4955
Summary

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]

Forensic Context

No relevant information is available at the moment.