• Gene id: 9711

Gene Summary

• Gene Symbol: RUBCN   Gene   UCSC   Ensembl
• Aliases: KIAA0226, RUBICON, SCAR15
• Gene name: rubicon autophagy regulator
• Alternate names: run domain Beclin-1-interacting and cysteine-rich domain-containing protein, RUN and cysteine rich domain containing beclin 1 interacting protein, RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein, baron, beclin-1 associated RUN dom,
• Gene location: 3q29 (197749726: 197668866)     Exons: 23     NC_000003.12
• Gene summary(Entrez): 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 invo
• OMIM: 613516

Protein Summary

• Protein general information: Q92622  
  • Name: Run domain Beclin 1 interacting and cysteine rich domain containing protein (Rubicon) (Beclin 1 associated RUN domain containing protein) (Baron)
  • Length: 972  
  • Mass: 108622
• Sequence:

  MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRDMQSILYHGLIRDQAC
  RRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERAVAELWLQHSLQYHCLSAQLRPLLGDRQYIR
  KFYTDAAFLLSDAHVTAMLQCLEAVEQNNPRLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHS
  YFGSFSSLHQSVPNNGSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLT
  SPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQKPDSAASSLGDQEGG
  GESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAPESCNDKAKLRGPLPYSGQSSEVSTPSSLYM
  EYEGGRYLCSGEGMFRRPSEGQSLISYLSEQDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEE
  EDSDREIQELKQKIRLRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIR
  RNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQKLLPIPDSLPISPDDG
  QHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYRCAGCGIRTDPDYIKRLRYCEYLGKYFCQCC
  HENAQMAIPSRVLRKWDFSKYYVSNFSKDLLIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKT
  CRLAKELLDSFDTVPGHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDI
  IFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAEALALEAAVLEAT

• Structural information:
  • Protein Domains: (48..18-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR004012  IPR037213  IPR025258  
  • Prosite: PS50826
  • STRING: ENSP00000296343
• Other Databases: GeneCards:  RUBCN  Malacards:  RUBCN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901097	negative regulation of autophagosome maturation	TAS	biological process
GO:0071985	multivesicular body sorting pathway	TAS	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0045806	negative regulation of endocytosis	IBA	biological process
GO:1901097	negative regulation of autophagosome maturation	IBA	biological process
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0005769	early endosome	IBA	cellular component
GO:0005770	late endosome	IBA	cellular component
GO:0043553	negative regulation of phosphatidylinositol 3-kinase activity	IBA	biological process
GO:0043553	negative regulation of phosphatidylinositol 3-kinase activity	IDA	biological process
GO:1901097	negative regulation of autophagosome maturation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	NOT|colocalizes with
GO:0010507	negative regulation of autophagy	IMP	biological process
GO:0045806	negative regulation of endocytosis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq