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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4668
Gene name Gene Name - the full gene name approved by the HGNC.	Alpha-N-acetylgalactosaminidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NAGA
Synonyms (NCBI Gene) Gene synonyms aliases	D22S674, GALB
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Ka

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs73167107	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121434529	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121434530	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434533	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140673721	C>T	Likely-pathogenic	Splice donor variant

Show/Hide all(153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016604	hsa-miR-193b-3p	Microarray	20304954
MIRT043313	hsa-miR-331-3p	CLASH	23622248
MIRT1172991	hsa-miR-150	CLIP-seq
MIRT1172992	hsa-miR-2110	CLIP-seq
MIRT1172993	hsa-miR-3120-3p	CLIP-seq
MIRT1172994	hsa-miR-3150a-3p	CLIP-seq
MIRT1172995	hsa-miR-3153	CLIP-seq
MIRT1172996	hsa-miR-3155	CLIP-seq
MIRT1172997	hsa-miR-3155b	CLIP-seq
MIRT1172998	hsa-miR-3175	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT1173001	hsa-miR-3691-3p	CLIP-seq
MIRT1173002	hsa-miR-3913-3p	CLIP-seq
MIRT1173003	hsa-miR-3919	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT1173005	hsa-miR-3925-5p	CLIP-seq
MIRT1173006	hsa-miR-3974	CLIP-seq
MIRT1173007	hsa-miR-3975	CLIP-seq
MIRT1173008	hsa-miR-4257	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT1173010	hsa-miR-4271	CLIP-seq
MIRT1173011	hsa-miR-4286	CLIP-seq
MIRT1173012	hsa-miR-4468	CLIP-seq
MIRT1173013	hsa-miR-4514	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT1173015	hsa-miR-4661-3p	CLIP-seq
MIRT1173016	hsa-miR-4667-5p	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT1173018	hsa-miR-4692	CLIP-seq
MIRT1173019	hsa-miR-4700-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT1173021	hsa-miR-4709-3p	CLIP-seq
MIRT1173022	hsa-miR-4725-3p	CLIP-seq
MIRT1173023	hsa-miR-4742-5p	CLIP-seq
MIRT1173024	hsa-miR-4789-5p	CLIP-seq
MIRT1173025	hsa-miR-484	CLIP-seq
MIRT1173026	hsa-miR-548u	CLIP-seq
MIRT1173027	hsa-miR-589	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT1173029	hsa-miR-939	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2050123	hsa-miR-342-5p	CLIP-seq
MIRT2050124	hsa-miR-4651	CLIP-seq
MIRT2050125	hsa-miR-4664-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT2050126	hsa-miR-608	CLIP-seq
MIRT2279018	hsa-miR-1225-5p	CLIP-seq
MIRT2279019	hsa-miR-1272	CLIP-seq
MIRT2279020	hsa-miR-1273d	CLIP-seq
MIRT2279021	hsa-miR-1322	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2279022	hsa-miR-1976	CLIP-seq
MIRT2279023	hsa-miR-25	CLIP-seq
MIRT2279024	hsa-miR-3154	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT2279025	hsa-miR-3182	CLIP-seq
MIRT2279026	hsa-miR-3192	CLIP-seq
MIRT2279027	hsa-miR-32	CLIP-seq
MIRT2279028	hsa-miR-3622b-5p	CLIP-seq
MIRT2279029	hsa-miR-363	CLIP-seq
MIRT2279030	hsa-miR-3663-5p	CLIP-seq
MIRT2279031	hsa-miR-3664-3p	CLIP-seq
MIRT2279032	hsa-miR-367	CLIP-seq
MIRT2279033	hsa-miR-3670	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279035	hsa-miR-3907	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT2279037	hsa-miR-4268	CLIP-seq
MIRT2279038	hsa-miR-4325	CLIP-seq
MIRT2279039	hsa-miR-4433	CLIP-seq
MIRT2279040	hsa-miR-4448	CLIP-seq
MIRT2279041	hsa-miR-4459	CLIP-seq
MIRT2279042	hsa-miR-4633-3p	CLIP-seq
MIRT2279043	hsa-miR-4695-5p	CLIP-seq
MIRT2279044	hsa-miR-4768-3p	CLIP-seq
MIRT2279045	hsa-miR-759	CLIP-seq
MIRT2279046	hsa-miR-92a	CLIP-seq
MIRT2279047	hsa-miR-92b	CLIP-seq
MIRT2454821	hsa-miR-205	CLIP-seq
MIRT2454822	hsa-miR-3136-5p	CLIP-seq
MIRT2454823	hsa-miR-4439	CLIP-seq
MIRT2454824	hsa-miR-943	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2577213	hsa-miR-208a	CLIP-seq
MIRT2577214	hsa-miR-208b	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2577217	hsa-miR-3138	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2577220	hsa-miR-3658	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2577221	hsa-miR-4464	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2577223	hsa-miR-4520a-3p	CLIP-seq
MIRT2577224	hsa-miR-4638-3p	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2577227	hsa-miR-4748	CLIP-seq
MIRT2577228	hsa-miR-4752	CLIP-seq
MIRT2577229	hsa-miR-4800-5p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2577231	hsa-miR-499-5p	CLIP-seq
MIRT2577232	hsa-miR-590-3p	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685738	hsa-let-7a	CLIP-seq
MIRT2685739	hsa-let-7b	CLIP-seq
MIRT2685740	hsa-let-7c	CLIP-seq
MIRT2685741	hsa-let-7d	CLIP-seq
MIRT2685742	hsa-let-7e	CLIP-seq
MIRT2685743	hsa-let-7f	CLIP-seq
MIRT2685744	hsa-let-7g	CLIP-seq
MIRT2685745	hsa-let-7i	CLIP-seq
MIRT2685746	hsa-miR-1255a	CLIP-seq
MIRT2685747	hsa-miR-1255b	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2685748	hsa-miR-202	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2685749	hsa-miR-3152-5p	CLIP-seq
MIRT2685750	hsa-miR-3177-3p	CLIP-seq
MIRT2685751	hsa-miR-3184	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2685752	hsa-miR-3667-5p	CLIP-seq
MIRT2685753	hsa-miR-3672	CLIP-seq
MIRT2685754	hsa-miR-3714	CLIP-seq
MIRT2685755	hsa-miR-423-5p	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2685756	hsa-miR-4458	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2685757	hsa-miR-4500	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2685758	hsa-miR-4650-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2685759	hsa-miR-4774-3p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2685760	hsa-miR-501-3p	CLIP-seq
MIRT2685761	hsa-miR-502-3p	CLIP-seq
MIRT2685762	hsa-miR-548an	CLIP-seq
MIRT2685763	hsa-miR-661	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685764	hsa-miR-98	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004557	Function	Alpha-galactosidase activity	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	IDA	19683538
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	IEA
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	TAS	2174888
GO:0009311	Process	Oligosaccharide metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0016052	Process	Carbohydrate catabolic process	IDA	19683538
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019377	Process	Glycolipid catabolic process	IEA
GO:0019377	Process	Glycolipid catabolic process	IMP	9741689
GO:0042803	Function	Protein homodimerization activity	IPI	19683538
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
104170	7631	ENSG00000198951

Protein

UniProt ID

P17050

Protein name

Alpha-N-acetylgalactosaminidase (EC 3.2.1.49) (Alpha-galactosidase B)

Protein function

Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

PDB

3H53 , 3H54 , 3H55 , 3IGU , 4DO4 , 4DO5 , 4DO6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16499	Melibiase_2	25 → 308	Alpha galactosidase A	Family
PF17450	Melibiase_2_C	311 → 394	Alpha galactosidase A C-terminal beta sandwich domain	Domain

Sequence

MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMAD
RMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYA
DMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATG
RPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNP
LMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNF
TGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ

Sequence length

411

Interactions

View interactions

	KEGG
	Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways Lysosome

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Alpha-N-Acetylgalactosaminidase Deficiency	alpha-n-acetylgalactosaminidase deficiency type 2, alpha-n-acetylgalactosaminidase deficiency type 1	rs121434530, rs121434531, rs779423223, rs140673721	N/A

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colonic Neoplasms	Associate	29748462
Fabry Disease	Associate	8040340
Mental Disorders	Associate	34637873
Neuroaxonal Dystrophies	Associate	2243144, 8040340
Parkinson Disease	Associate	32348865
Schindler Disease Type I	Associate	2243144, 8040340, 9741689

NAGA (alpha-N-acetylgalactosaminidase)