ATG101 (autophagy related 101)

Gene

• Entrez ID: 60673
• Gene name: Autophagy related 101
• Gene symbol: ATG101
• Synonyms (NCBI Gene): C12orf44
• Chromosome: 12
• Chromosome location: 12q13.13

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	19225151
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000045	Process	Autophagosome assembly	IMP	19597335
GO:0000407	Component	Phagophore assembly site	IBA
GO:0000407	Component	Phagophore assembly site	IDA	19597335
GO:0000407	Component	Phagophore assembly site	IEA
GO:0005515	Function	Protein binding	IPI	19597335, 20562859, 23392225, 24290141, 26030876, 26299944, 32296183, 33961781, 34524948, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006914	Process	Autophagy	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	21795849
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	ISO
GO:0019901	Function	Protein kinase binding	IBA
GO:0042802	Function	Identical protein binding	IPI	20562859
GO:0044877	Function	Protein-containing complex binding	IPI	19597335
GO:1990316	Component	Atg1/ULK1 kinase complex	IBA
GO:1990316	Component	Atg1/ULK1 kinase complex	IPI	19597335

Other IDs

• MIM: 615089
• HGNC: 25679
• e!Ensembl: ENSG00000123395

Protein

• UniProt ID: Q9BSB4
• Protein name: Autophagy-related protein 101
• Protein function: Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation.
• PDB: 4WZG, 5C50, 5XUY, 5XV1, 5XV3, 5XV4, 5XV6, 8DO8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07855	ATG101	9 → 172	Autophagy-related protein 101	Family

• Sequence:

  MNCRSEVLEVSVEGRQVEEAMLAVLHTVLLHRSTGKFHYKKEGTYSIGTVGTQDVDCDFI
  DFTYVRVSSEELDRALRKVVGEFKDALRNSGGDGLGQMSLEFYQKKKSRWPFSDECIPWE
  VWTVKVHVVALATEQERQICREKVGEKLCEKIINIVEVMNRHEYLPKMPTQSEVDNVFDT
  GLRDVQPYLYKISFQITDALGTSVTTTMRRLIKDTLAL

• Sequence length: 218

Pathways

KEGG:

Autophagy - other
Autophagy - animal
Longevity regulating pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases

Reactome:

Macroautophagy

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
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36302799	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34315829	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34502089	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29453315		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29453315		★☆☆☆☆ Found in Text Mining only