RUBCNL (rubicon like autophagy enhancer)

Gene

• Entrez ID: 80183
• Gene name: Rubicon like autophagy enhancer
• Gene symbol: RUBCNL
• Synonyms (NCBI Gene): C13orf18, KIAA0226L, PACER
• Chromosome: 13
• Chromosome location: 13q14.13
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT728163	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT728162	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT728161	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT728160	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT728159	hsa-miR-30e-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IBA
GO:0000421	Component	Autophagosome membrane	IDA	28306502
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005515	Function	Protein binding	IPI	28306502, 28514442, 30704899
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	28306502
GO:0016020	Component	Membrane	IEA
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	28306502
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0061909	Process	Autophagosome-lysosome fusion	IBA
GO:0061909	Process	Autophagosome-lysosome fusion	IDA	28306502
GO:0061910	Process	Autophagosome-endosome fusion	IBA
GO:0061910	Process	Autophagosome-endosome fusion	IDA	28306502
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	28306502
GO:0070873	Process	Regulation of glycogen metabolic process	ISS
GO:0097352	Process	Autophagosome maturation	IBA
GO:0097352	Process	Autophagosome maturation	IDA	28306502, 30704899
GO:1901981	Function	Phosphatidylinositol phosphate binding	IBA

Other IDs

• MIM: 620175
• HGNC: 20420
• e!Ensembl: ENSG00000102445

Protein

• UniProt ID: Q9H714
• Protein name: Protein associated with UVRAG as autophagy enhancer (Pacer) (Protein Rubicon-like)
• Protein function: Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy (PubMed:28306502, PubMed:30704899). Acts by antagonizing RUBCN, thereby stim
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13901	zf-RING_9	450 → 649	Putative zinc-RING and/or ribbon	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed weakly in cervical carcinoma cell lines. {ECO:0000269|PubMed:23522960}.
• Sequence:

  MVSQSTVRQDSPVEPWEGISDHSGIIDGSPRLLNTDHPPCQLDIRLMRHKAVWINPQDVQ
  QQPQDLQSQVPAAGNSGTHFVTDAASPSGPSPSCLGDSLAETTLSEDTTDSVGSASPHGS
  SEKSSSFSLSSTEVHMVRPGYSHRVSLPTSPGILATSPYPETDSAFFEPSHLTSAADEGA
  VQVSRRTISSNSFSPEVFVLPVDVEKENAHFYVADMIISAMEKMKCNILSQQQTESWSKE
  VSGLLGSDQPDSEMTFDTNIKQESGSSTSSYSGYEGCAVLQVSPVTETRTYHDVKEICKC
  DVDEFVILELGDFNDITETCSCSCSSSKSVTYEPDFNSAELLAKELYRVFQKCWILSVVN
  SQLAGSLSAAGSIVVNEECVRKDFESSMNVVQEIKFKSRIRGTEDWAPPRFQIIFNIHPP
  LKRDLVVAAQNFFCAGCGTPVEPKFVKRLRYCEYLGKYFCDCCHSYAESCIPARILMMWD
  FKKYYVSNFSKQLLDSIWHQPIFNLLSIGQSLYAKAKELDRVKEIQEQLFHIKKLLKTCR
  FANSALKEFEQVPGHLTDELHLFSLEDLVRIKKGLLAPLLKDILKASLAHVAGCELCQGK
  GFICEFCQNTTVIFPFQTATCRRCSACRACFHKQCFQSSECPRCARITARRKLLESVASA
  AT

• Sequence length: 662

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30917850		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19843677, 23522960, 29664054		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25169519		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19843677, 23522960, 29664054		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37615625	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31113870		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29844130		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28689339		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19843677, 23522960, 29664054		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23522960, 26686387		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	29599055		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26476537		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31323382	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29844130	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23522960, 26057381, 26686387, 29664054	Associate	★☆☆☆☆ Found in Text Mining only