ATG3 (autophagy related 3)

Gene

• Entrez ID: 64422
• Gene name: Autophagy related 3
• Gene symbol: ATG3
• Synonyms (NCBI Gene): APG3, APG3-LIKE, APG3L, PC3-96, hApg3
• Chromosome: 3
• Chromosome location: 3q13.2
• Summary: This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to pla

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001566	hsa-miR-155-5p	pSILAC	18668040
MIRT001566	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT047709	hsa-miR-10a-5p	CLASH	23622248
MIRT733075	hsa-miR-204-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	31849486
MIRT733075	hsa-miR-204-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, In situ hybridization	31549407
MIRT805439	hsa-miR-1303	CLIP-seq
MIRT805440	hsa-miR-3123	CLIP-seq
MIRT805441	hsa-miR-3925-5p	CLIP-seq
MIRT805442	hsa-miR-4738-3p	CLIP-seq
MIRT805443	hsa-miR-548g	CLIP-seq
MIRT2177374	hsa-miR-3115	CLIP-seq
MIRT2177375	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000045	Process	Autophagosome assembly	IMP	33446636
GO:0000045	Process	Autophagosome assembly	ISS
GO:0000407	Component	Phagophore assembly site	IBA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0005515	Function	Protein binding	IPI	11825910, 12890687, 15355958, 16303767, 18083104, 20562859, 23202584, 24186333, 24191030, 26043688, 32296183, 32814053, 33961781, 35271311, 37252361
GO:0005737	Component	Cytoplasm	IDA	11825910
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	11825910
GO:0005829	Component	Cytosol	TAS
GO:0006612	Process	Protein targeting to membrane	ISS
GO:0006914	Process	Autophagy	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016567	Process	Protein ubiquitination	IDA	11825910
GO:0016740	Function	Transferase activity	IEA
GO:0019776	Function	Atg8-family ligase activity	IEA
GO:0019776	Function	Atg8-family ligase activity	ISS
GO:0019777	Function	Atg12 transferase activity	IEA
GO:0019777	Function	Atg12 transferase activity	ISS
GO:0019787	Function	Ubiquitin-like protein transferase activity	IDA	11825910
GO:0019787	Function	Ubiquitin-like protein transferase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	11825910
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IDA	24186333, 24191030, 37252361
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IEA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	ISS
GO:0044804	Process	Nucleophagy	IBA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0061723	Process	Glycophagy	IBA
GO:0141046	Function	Atg8-family conjugating enzyme activity	IBA
GO:0141046	Function	Atg8-family conjugating enzyme activity	IDA	12207896, 24186333, 37252361
GO:0141046	Function	Atg8-family conjugating enzyme activity	IMP	24191030, 33446636
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	ISS

Other IDs

• MIM: 609606
• HGNC: 20962
• e!Ensembl: ENSG00000144848

Protein

• UniProt ID: Q9NT62
• Protein name: Ubiquitin-like-conjugating enzyme ATG3 (EC 2.3.2.-) (Autophagy-related protein 3) (APG3-like) (hApg3) (Protein PC3-96)
• Protein function: E2 conjugating enzyme that catalyzes the covalent conjugation of the C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A) to the amino group of phosphatidylethanolamine (PE)-containing lipids in the membrane resulting
• PDB: 4NAW, 8AFI, 8FKM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03987	Autophagy_act_C	38 → 308	Autophagocytosis associated protein, active-site domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with a highest expression in heart, skeletal muscle, kidney, liver and placenta. {ECO:0000269|PubMed:11825910}.
• Sequence:

  MQNVINTVKGKALEVAEYLTPVLKESKFKETGVITPEEFVAAGDHLVHHCPTWQWATGEE
  LKVKAYLPTGKQFLVTKNVPCYKRCKQMEYSDELEAIIEEDDGDGGWVDTYHNTGITGIT
  EAVKEITLENKDNIRLQDCSALCEEEEDEDEGEAADMEEYEESGLLETDEATLDTRKIVE
  ACKAKTDAGGEDAILQTRTYDLYITYDKYYQTPRLWLFGYDEQRQPLTVEHMYEDISQDH
  VKKTVTIENHPHLPPPPMCSVHPCRHAEVMKKIIETVAEGGGELGVHMYLLIFLKFVQAV
  IPTIEYDYTRHFTM

• Sequence length: 314

Pathways

KEGG:

Autophagy - other
Autophagy - animal
Kaposi sarcoma-associated herpesvirus infection

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23119048		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	36969237	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39272120	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30007957		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23119048		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28423647		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33382073	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31849517		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35978049	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31262977		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28423647		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27077802		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30026731		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35638109	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24420857, 27391105		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27391105	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29743969	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27301338, 30794914, 31118766, 31409760, 31549407		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23119048	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30007957		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23119048		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31399562, 31849517		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31849517		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24420857, 27391105		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27391105	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23258740, 28423647		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29138833, 29851226, 31849486		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37395033	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34567283, 35638109	Associate	★☆☆☆☆ Found in Text Mining only