MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.2.1.49	Hydrolases; Glycosylases; Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds; α-N-acetylgalactosaminidase

Structure

PDB	Resolution (Å)	PDB name
3H53	2.01	Crystal Structure of human alpha-N-acetylgalactosaminidase
3H54	2.2	Crystal Structure of human alpha-N-acetylgalactosaminidase,complex with GalNAc
3H55	1.91	Crystal Structure of human alpha-N-acetylgalactosaminidase, Complex with Galactose
3IGU	2.15	Crystal structure of human alpha-N-acetylgalactosaminidase, covalent intermediate
4DO4	1.4	Pharmacological chaperones for human alpha-N-acetylgalactosaminidase
4DO5	1.51	Pharmacological chaperones for human alpha-N-acetylgalactosaminidase
4DO6	1.6	Pharmacological chaperones for human alpha-N-acetylgalactosaminidase

GO term

GO ontology	GO term	GO description
Biological Process	GO:0016052	carbohydrate catabolic process
Biological Process	GO:0019377	glycolipid catabolic process
Biological Process	GO:0016139	glycoside catabolic process
Biological Process	GO:0009311	oligosaccharide metabolic process
Molecular Function	GO:0008456	alpha-N-acetylgalactosaminidase activity
Molecular Function	GO:0004557	alpha-galactosidase activity
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0005764	lysosome

InterPro	InterPro name
IPR000111	Glycoside hydrolase family 27/36, conserved site
IPR002241	Glycoside hydrolase, family 27
IPR013780	Glycosyl hydrolase, all-beta
IPR013785	Aldolase-type TIM barrel
IPR017853	Glycoside hydrolase superfamily
IPR035373	Alpha galactosidase A, C-terminal beta-sandwich domain

Pfam	Pfam name
PF16499	Alpha galactosidase A
PF17450	Alpha galactosidase A C-terminal beta sandwich domain

Location	ECO term	Pubmed
Lysosome	ECO:0000269	PubMed:9741689

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000179	Thick lower lip vermilion
HP:0000214	Lip telangiectasia
HP:0000280	Coarse facial features
HP:0000360	Tinnitus
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000503	Tortuosity of conjunctival vessels
HP:0000518	Cataract
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000717	Autism
HP:0000763	Sensory neuropathy
HP:0000938	Osteopenia
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000967	Petechiae
HP:0001004	Lymphedema
HP:0001009	Telangiectasia
HP:0001071	Angiokeratoma corporis diffusum
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001482	Subcutaneous nodule
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0002059	Cerebral atrophy
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002240	Hepatomegaly
HP:0002321	Vertigo
HP:0002363	Abnormal brainstem morphology
HP:0002376	Developmental regression
HP:0002460	Distal muscle weakness
HP:0002936	Distal sensory impairment
HP:0003355	Aminoaciduria
HP:0003401	Paresthesia
HP:0003409	Distal sensory impairment of all modalities
HP:0003461	Increased urinary O-linked sialopeptides
HP:0003477	Peripheral axonal neuropathy
HP:0003581	Adult onset
HP:0003593	Infantile onset
HP:0003700	Generalized amyotrophy
HP:0004374	Hemiplegia/hemiparesis
HP:0005280	Depressed nasal bridge
HP:0006812	White mater abnormalities in the posterior periventricular region
HP:0007256	Abnormal pyramidal sign
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0007428	Telangiectasia of the oral mucosa
HP:0007759	Opacification of the corneal stroma
HP:0009830	Peripheral neuropathy
HP:0010864	Intellectual disability, severe
HP:0012471	Thick vermilion border
HP:0025710	Late young adult onset
HP:0032325	Lacunar stroke
HP:0040078	Axonal degeneration
HP:0100543	Cognitive impairment
HP:0100585	Telangiectasia of the skin
HP:0100704	Cerebral visual impairment
HP:0200034	Papule

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Enhanced
appendix	glandular cells	Medium	Enhanced
bone marrow	hematopoietic cells	Medium	Enhanced
breast	glandular cells	Low	Enhanced
breast	myoepithelial cells	Medium	Enhanced
bronchus	respiratory epithelial cells	Low	Enhanced
caudate	neuronal cells	Medium	Enhanced
cerebellum	Purkinje cells	Low	Enhanced
cerebral cortex	neuronal cells	Low	Enhanced
cervix	glandular cells	Low	Enhanced
colon	endothelial cells	Medium	Enhanced
colon	glandular cells	Low	Enhanced
duodenum	glandular cells	Low	Enhanced
endometrium 1	glandular cells	Medium	Enhanced
endometrium 2	glandular cells	Medium	Enhanced
epididymis	glandular cells	High	Enhanced
fallopian tube	glandular cells	Low	Enhanced
gallbladder	glandular cells	Low	Enhanced
heart muscle	cardiomyocytes	Low	Enhanced
hippocampus	neuronal cells	Low	Enhanced
kidney	cells in tubules	Medium	Enhanced
liver	cholangiocytes	Low	Enhanced
liver	hepatocytes	Medium	Enhanced
lung	alveolar cells type I	Low	Enhanced
lung	macrophages	Medium	Enhanced
lymph node	non-germinal center cells	Medium	Enhanced
nasopharynx	respiratory epithelial cells	Low	Enhanced
oral mucosa	squamous epithelial cells	Low	Enhanced
ovary	follicle cells	Low	Enhanced
ovary	ovarian stroma cells	Medium	Enhanced
pancreas	exocrine glandular cells	High	Enhanced
pancreas	pancreatic endocrine cells	Medium	Enhanced
parathyroid gland	glandular cells	Low	Enhanced
placenta	decidual cells	Medium	Enhanced
placenta	trophoblastic cells	High	Enhanced
prostate	glandular cells	Medium	Enhanced
rectum	glandular cells	Low	Enhanced
salivary gland	glandular cells	Medium	Enhanced
seminal vesicle	glandular cells	High	Enhanced
skeletal muscle	myocytes	Low	Enhanced
skin 1	Langerhans	High	Enhanced
skin 1	fibroblasts	High	Enhanced
skin 1	keratinocytes	Medium	Enhanced
skin 1	melanocytes	Medium	Enhanced
skin 2	epidermal cells	Low	Enhanced
small intestine	glandular cells	Low	Enhanced
smooth muscle	smooth muscle cells	Low	Enhanced
soft tissue 1	fibroblasts	Medium	Enhanced
soft tissue 2	fibroblasts	High	Enhanced
spleen	cells in white pulp	Medium	Enhanced
stomach 1	glandular cells	Low	Enhanced
stomach 2	glandular cells	Medium	Enhanced
testis	Leydig cells	Medium	Enhanced
testis	round or early spermatids	Medium	Enhanced
testis	sertoli cells	Medium	Enhanced
thyroid gland	glandular cells	Medium	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Low	Enhanced
urinary bladder	urothelial cells	Low	Enhanced

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
alpha-n-acetylgalactosaminidase deficiency type 1	MONDO:0012221	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:609241	Orphanet:79279
alpha-n-acetylgalactosaminidase deficiency type 1	MONDO:0012221	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:609241	Orphanet:79281
alpha-n-acetylgalactosaminidase deficiency type 2	MONDO:0012222	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:609242	Orphanet:79280
alpha-n-acetylgalactosaminidase deficiency type 3	MONDO:0019264	E77	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:79281

Summary of P17050

Gene: NAGA
Protein: Alpha-N-acetylgalactosaminidase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P17050

Gene: NAGA Protein: Alpha-N-acetylgalactosaminidase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: NAGA
Protein: Alpha-N-acetylgalactosaminidase