MultifacetedProtDB - Bologna Biocomputing Group

Structure

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006501	C-terminal protein lipidation
Biological Process	GO:0006914	autophagy
Biological Process	GO:0000422	autophagy of mitochondrion
Biological Process	GO:0071455	cellular response to hyperoxia
Biological Process	GO:0006995	cellular response to nitrogen starvation
Biological Process	GO:0009267	cellular response to starvation
Biological Process	GO:0051607	defense response to virus
Biological Process	GO:0044805	late nucleophagy
Biological Process	GO:0016236	macroautophagy
Biological Process	GO:0034727	piecemeal microautophagy of the nucleus
Biological Process	GO:0043065	positive regulation of apoptotic process
Biological Process	GO:0045732	positive regulation of protein catabolic process
Biological Process	GO:0031401	positive regulation of protein modification process
Biological Process	GO:0006497	protein lipidation
Biological Process	GO:0032446	protein modification by small protein conjugation
Biological Process	GO:0015031	protein transport
Biological Process	GO:0042752	regulation of circadian rhythm
Biological Process	GO:0048511	rhythmic process
Molecular Function	GO:0019778	Atg12 activating enzyme activity
Molecular Function	GO:0019779	Atg8 activating enzyme activity
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005930	axoneme
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005576	extracellular region
Cellular Component	GO:1904813	ficolin-1-rich granule lumen
Cellular Component	GO:0000407	phagophore assembly site
Cellular Component	GO:0034774	secretory granule lumen

InterPro / Pfam

InterPro	InterPro name
IPR000594	THIF-type NAD/FAD binding fold
IPR006285	Ubiquitin-like modifier-activating enzyme Atg7
IPR032197	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal
IPR035985	Ubiquitin-activating enzyme
IPR042522	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal, subdomain 1
IPR042523	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal, subdomain 2
IPR045886	ThiF/MoeB/HesA family

Pfam	Pfam name
PF00899	ThiF family
PF16420	Ubiquitin-like modifier-activating enzyme ATG7 N-terminus

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1632852	Macroautophagy	Internal node	R-HSA-9612973	Autophagy
R-HSA-6798695	Neutrophil degranulation	Leaf	R-HSA-168256	Immune System
R-HSA-6802952	Signaling by BRAF and RAF1 fusions	Leaf	R-HSA-1643685	Disease
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	Leaf	R-HSA-168256	Immune System

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000250
Preautophagosomal structure	ECO:0000250

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000319	Smooth philtrum
HP:0000486	Strabismus
HP:0000488	Retinopathy
HP:0000508	Ptosis
HP:0000544	External ophthalmoplegia
HP:0000648	Optic atrophy
HP:0000729	Autistic behavior
HP:0000742	Self-mutilation
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001266	Choreoathetosis
HP:0001298	Encephalopathy
HP:0001321	Cerebellar hypoplasia
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001510	Growth delay
HP:0001611	Hypernasal speech
HP:0001761	Pes cavus
HP:0002015	Dysphagia
HP:0002059	Cerebral atrophy
HP:0003593	Infantile onset
HP:0003763	Bruxism
HP:0003819	Death in childhood
HP:0004209	Clinodactyly of the 5th finger
HP:0004619	Lumbar kyphoscoliosis
HP:0008619	Bilateral sensorineural hearing impairment
HP:0008936	Axial hypotonia
HP:0011968	Feeding difficulties
HP:0031936	Delayed ability to walk
HP:0034007	Posterior atrophy of corpus callosum
HP:0100660	Dyskinesia
HP:0100753	Schizophrenia

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Supported
adrenal gland	glandular cells	Medium	Supported
appendix	glandular cells	Low	Supported
appendix	lymphoid tissue	Low	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	Low	Supported
caudate	glial cells	Medium	Supported
cerebellum	Purkinje cells	Medium	Supported
cerebral cortex	endothelial cells	Low	Supported
cerebral cortex	glial cells	Low	Supported
cerebral cortex	neuronal cells	Medium	Supported
cerebral cortex	neuropil	Medium	Supported
cervix	glandular cells	High	Supported
colon	endothelial cells	Low	Supported
colon	glandular cells	Medium	Supported
colon	peripheral nerve/ganglion	Medium	Supported
duodenum	glandular cells	Medium	Supported
endometrium 1	glandular cells	Low	Supported
endometrium 2	glandular cells	Low	Supported
epididymis	glandular cells	Medium	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	Medium	Supported
hippocampus	glial cells	Medium	Supported
hippocampus	neuronal cells	Medium	Supported
kidney	cells in glomeruli	Low	Supported
kidney	cells in tubules	Medium	Supported
liver	cholangiocytes	Low	Supported
liver	hepatocytes	Low	Supported
lung	alveolar cells type I	Medium	Supported
lung	alveolar cells type II	Medium	Supported
lung	macrophages	Medium	Supported
lymph node	germinal center cells	Medium	Supported
lymph node	non-germinal center cells	Low	Supported
ovary	ovarian stroma cells	Low	Supported
pancreas	exocrine glandular cells	Medium	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	decidual cells	High	Supported
placenta	trophoblastic cells	High	Supported
prostate	glandular cells	Medium	Supported
rectum	glandular cells	Medium	Supported
salivary gland	glandular cells	Low	Supported
seminal vesicle	glandular cells	Low	Supported
skeletal muscle	myocytes	Low	Supported
skin 1	Langerhans	Low	Supported
skin 1	fibroblasts	Medium	Supported
skin 1	keratinocytes	Low	Supported
skin 1	melanocytes	Low	Supported
small intestine	glandular cells	Medium	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	fibroblasts	Medium	Supported
spleen	cells in red pulp	Low	Supported
stomach 1	glandular cells	Medium	Supported
stomach 2	glandular cells	Medium	Supported
testis	Leydig cells	Medium	Supported
testis	elongated or late spermatids	Medium	Supported
testis	round or early spermatids	Medium	Supported
testis	sertoli cells	Medium	Supported
testis	spermatogonia cells	Medium	Supported
thyroid gland	glandular cells	Medium	Supported
tonsil	germinal center cells	Low	Supported
tonsil	squamous epithelial cells	Low	Supported
urinary bladder	urothelial cells	Medium	Supported

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
spinocerebellar ataxia, autosomal recessive 31	MONDO:0030323	-	-	OMIM:619422
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	MONDO:0859189	-	-	OMIM:619518

Summary of O95352

Gene: ATG7, APG7L
Protein: Ubiquitin-like modifier-activating enzyme ATG7

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of O95352

Gene: ATG7, APG7L Protein: Ubiquitin-like modifier-activating enzyme ATG7

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: ATG7, APG7L
Protein: Ubiquitin-like modifier-activating enzyme ATG7