Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84938
Gene name	Autophagy related 4C cysteine peptidase
Gene symbol	ATG4C
Synonyms (NCBI Gene)	APG4-CAPG4CAUTL1AUTL3HsAPG4C
Chromosome	1
Chromosome location	1p31.3
Summary	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, a

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052446	hsa-let-7a-5p	CLASH	23622248
MIRT052951	hsa-miR-376b-3p	ImmunoblotLuciferase reporter assayqRT-PCR	22248718
MIRT052951	hsa-miR-376b-3p	5.0	22248718
MIRT052951	hsa-miR-376b-3p	5.0	22248718
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT438047	hsa-miR-376a-3p	Luciferase reporter assayWestern blot	24358205
MIRT805532	hsa-miR-3591-3p	CLIP-seq
MIRT805533	hsa-miR-3927	CLIP-seq
MIRT805534	hsa-miR-410	CLIP-seq
MIRT805535	hsa-miR-4251	CLIP-seq
MIRT805536	hsa-miR-4650-3p	CLIP-seq
MIRT805537	hsa-miR-4738-3p	CLIP-seq
MIRT805538	hsa-miR-4799-5p	CLIP-seq
MIRT805539	hsa-miR-548ag	CLIP-seq
MIRT805540	hsa-miR-548ai	CLIP-seq
MIRT805541	hsa-miR-580	CLIP-seq
MIRT805542	hsa-miR-582-5p	CLIP-seq
MIRT805543	hsa-miR-600	CLIP-seq
MIRT1937878	hsa-miR-3163	CLIP-seq
MIRT1937879	hsa-miR-4719	CLIP-seq
MIRT2480811	hsa-miR-1275	CLIP-seq
MIRT2480812	hsa-miR-4260	CLIP-seq
MIRT2480813	hsa-miR-4525	CLIP-seq
MIRT2480814	hsa-miR-4665-5p	CLIP-seq
MIRT1937879	hsa-miR-4719	CLIP-seq
MIRT2480815	hsa-miR-4723-5p	CLIP-seq
MIRT2480816	hsa-miR-4728-5p	CLIP-seq
MIRT805537	hsa-miR-4738-3p	CLIP-seq
MIRT2480817	hsa-miR-625	CLIP-seq
MIRT2480818	hsa-miR-889	CLIP-seq
MIRT2480819	hsa-miR-9	CLIP-seq
MIRT2480811	hsa-miR-1275	CLIP-seq
MIRT2675584	hsa-miR-146a	CLIP-seq
MIRT2675585	hsa-miR-146b-5p	CLIP-seq
MIRT2480812	hsa-miR-4260	CLIP-seq
MIRT2480813	hsa-miR-4525	CLIP-seq
MIRT2480814	hsa-miR-4665-5p	CLIP-seq
MIRT1937879	hsa-miR-4719	CLIP-seq
MIRT2480815	hsa-miR-4723-5p	CLIP-seq
MIRT2480816	hsa-miR-4728-5p	CLIP-seq
MIRT805537	hsa-miR-4738-3p	CLIP-seq
MIRT2675586	hsa-miR-589	CLIP-seq
MIRT2480817	hsa-miR-625	CLIP-seq
MIRT2480818	hsa-miR-889	CLIP-seq
MIRT2480819	hsa-miR-9	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	21177865
GO:0000045	Process	Autophagosome assembly	IMP	24290141
GO:0000423	Process	Mitophagy	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IBA
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	21177865
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006508	Process	Proteolysis	IDA	21177865
GO:0006508	Process	Proteolysis	IEA
GO:0006914	Process	Autophagy	IDA	30661429
GO:0006914	Process	Autophagy	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IDA	21177865, 30661429
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019786	Function	Protein-phosphatidylethanolamide deconjugating activity	IBA
GO:0019786	Function	Protein-phosphatidylethanolamide deconjugating activity	IEA
GO:0034727	Process	Piecemeal microautophagy of the nucleus	IBA
GO:0035973	Process	Aggrephagy	IBA
GO:0051697	Process	Protein delipidation	IDA	29458288

MIM	HGNC	e!Ensembl
611339	16040	ENSG00000125703

Q96DT6

Protein name

Cysteine protease ATG4C (EC 3.4.22.-) (AUT-like 3 cysteine endopeptidase) (Autophagy-related cysteine endopeptidase 3) (Autophagin-3) (Autophagy-related protein 4 homolog C) (HsAPG4C)

Protein function

Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins (PubMed:21177865, PubMed:29458288, PubMed:30661429). The protease activity is required for proteolytic activat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03416	Peptidase_C54	76 → 400	Peptidase family C54	Family

Sequence

MEATGTDEVDKLKTKFISAWNNMKYSWVLKTKTYFSRNSPVLLLGKCYHFKYEDEDKTLP
AESGCTIEDHVIAGNVEEFRKDFISRIWLTYREEFPQIEGSALTTDCGWGCTLRTGQMLL
AQGLILHFLGRAWTWPDALNIENSDSESWTSHTVKKFTASFEASLSGEREFKTPTISLKE
TIGKYSDDHEMRNEVYHRKIISWFGDSPLALFGLHQLIEYGKKSGKKAGDWYGPAVVAHI
LRKAVEEARHPDLQGITIYVAQDCTVYNSDVIDKQSASMTSDNADDKAVIILVPVRLGGE
RTNTDYLEFVKGILSLEYCVGIIGGKPKQSYYFAGFQDDSLIYMDPHYCQSFVDVSIKDF
PLETFHCPSPKKMSFRKMDPSCTIGFYCRNVQDFKRASEEITKMLKFSSKEKYPLFTFVN
GHSRDYDFTSTTTNEEDLFSEDEKKQLKRFSTEEFVLL

Sequence length

458

Interactions

View interactions

	KEGG		Reactome
	Autophagy - other Autophagy - animal		Macroautophagy

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CROHN DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	28423511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28423511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32401768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen syndrome	Pubtator	32375900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30908504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36038634	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	31291988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34699312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	27742532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28423511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21782286		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATG4C (autophagy related 4C cysteine peptidase)