• Gene id: 80183

Gene Summary

• Gene Symbol: RUBCNL   Gene   UCSC   Ensembl
• Aliases: C13orf18, KIAA0226L, PACER
• Gene name: rubicon like autophagy enhancer
• Alternate names: protein associated with UVRAG as autophagy enhancer, KIAA0226 like, RUN and cysteine rich domain containing beclin 1 interacting protein like, protein RUBCNL-like, protein Rubicon-like, rubicon like autophagy regulator,
• Gene location: 13q14.13 (46390041: 46341738)     Exons: 17     NC_000013.11
• Gene summary(Entrez): This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking a
• OMIM: 0

Protein Summary

• Protein general information: Q9H714  
  • Name: Protein associated with UVRAG as autophagy enhancer (Pacer) (Protein Rubicon like)
  • Length: 662  
  • Mass: 73457
  • Tissue specificity: Expressed weakly in cervical carcinoma cell lines. {ECO
• Sequence:

  MVSQSTVRQDSPVEPWEGISDHSGIIDGSPRLLNTDHPPCQLDIRLMRHKAVWINPQDVQQQPQDLQSQVPAAGN
  SGTHFVTDAASPSGPSPSCLGDSLAETTLSEDTTDSVGSASPHGSSEKSSSFSLSSTEVHMVRPGYSHRVSLPTS
  PGILATSPYPETDSAFFEPSHLTSAADEGAVQVSRRTISSNSFSPEVFVLPVDVEKENAHFYVADMIISAMEKMK
  CNILSQQQTESWSKEVSGLLGSDQPDSEMTFDTNIKQESGSSTSSYSGYEGCAVLQVSPVTETRTYHDVKEICKC
  DVDEFVILELGDFNDITETCSCSCSSSKSVTYEPDFNSAELLAKELYRVFQKCWILSVVNSQLAGSLSAAGSIVV
  NEECVRKDFESSMNVVQEIKFKSRIRGTEDWAPPRFQIIFNIHPPLKRDLVVAAQNFFCAGCGTPVEPKFVKRLR
  YCEYLGKYFCDCCHSYAESCIPARILMMWDFKKYYVSNFSKQLLDSIWHQPIFNLLSIGQSLYAKAKELDRVKEI
  QEQLFHIKKLLKTCRFANSALKEFEQVPGHLTDELHLFSLEDLVRIKKGLLAPLLKDILKASLAHVAGCELCQGK
  GFICEFCQNTTVIFPFQTATCRRCSACRACFHKQCFQSSECPRCARITARRKLLESVASAAT

• Structural information:
  • Interpro: IPR025258  
  • STRING: ENSP00000374558
• Other Databases: GeneCards:  RUBCNL  Malacards:  RUBCNL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0061910	autophagosome-endosome fusion	IBA	biological process
GO:1901981	phosphatidylinositol phosphate binding	IBA	molecular function
GO:0000421	autophagosome membrane	IBA	cellular component
GO:0061909	autophagosome-lysosome fusion	IBA	biological process
GO:0097352	autophagosome maturation	IBA	biological process
GO:0061910	autophagosome-endosome fusion	IDA	biological process
GO:0010314	phosphatidylinositol-5-phosphate binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0097352	autophagosome maturation	IDA	biological process
GO:0061909	autophagosome-lysosome fusion	IDA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0097352	autophagosome maturation	IDA	biological process
GO:0000421	autophagosome membrane	IDA	cellular component
GO:0019216	regulation of lipid metabolic process	ISS	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:0070873	regulation of glycogen metabolic process	ISS	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000421	autophagosome membrane	IEA	cellular component

Diseases

Associated diseases	References
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)
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