Gene/Proteome Database (LMPD)

LMPD ID
LMP002748
Gene ID
4668
Species
Homo sapiens (Human)
Gene Name
N-acetylgalactosaminidase, alpha-
Gene Symbol
NAGA
Synonyms
D22S674; GALB
Alternate Names
alpha-N-acetylgalactosaminidase; alpha-galactosidase B; Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
Chromosome
22
Map Location
22q11
EC Number
3.2.1.49
Summary
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 Kanzaki disease). [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for NAGA

Proteins

alpha-N-acetylgalactosaminidase precursor
Refseq ID NP_000253
Protein GI 4557781
UniProt ID P17050
mRNA ID NM_000262
Length 411
RefSeq Status REVIEWED
MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ
sig_peptide: 1..17 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1879 peptide sequence: MLLKTVLLLGHVAQVLM mat_peptide: 18..411 product: alpha-N-acetylgalactosaminidase calculated_mol_wt: 44703 peptide sequence: LDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ

Gene Information

Entrez Gene ID
4668
Gene Name
N-acetylgalactosaminidase, alpha-
Gene Symbol
NAGA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IBA:RefGenome C cytoplasm
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0005764 IEA:UniProtKB-KW C lysosome
GO:0004557 IBA:RefGenome F alpha-galactosidase activity
GO:0008456 IDA:UniProtKB F alpha-N-acetylgalactosaminidase activity
GO:0042803 IPI:UniProtKB F protein homodimerization activity
GO:0016052 IDA:UniProtKB P carbohydrate catabolic process
GO:0019377 IMP:UniProtKB P glycolipid catabolic process
GO:0016139 IBA:RefGenome P glycoside catabolic process
GO:0046477 IBA:RefGenome P glycosylceramide catabolic process
GO:0009311 IBA:RefGenome P oligosaccharide metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00603 Glycosphingolipid biosynthesis - globo series
ko00603 Glycosphingolipid biosynthesis - globo series
hsa04142 Lysosome
ko04142 Lysosome

Domain Information

InterPro Annotations

Accession Description
IPR013785 Aldolase-type TIM barrel
IPR000111 Glycoside hydrolase, clan GH-D
IPR002241 Glycoside hydrolase, family 27
IPR017853 Glycoside hydrolase superfamily
IPR013780 Glycosyl hydrolase, family 13, all-beta

UniProt Annotations

Entry Information

Gene Name
N-acetylgalactosaminidase, alpha-
Protein Entry
NAGAB_HUMAN
UniProt ID
P17050
Species
Human

Comments

Comment Type Description
Catalytic Activity Cleavage of non-reducing alpha-(1->3)-N- acetylgalactosamine residues from human blood group A and AB mucin glycoproteins, Forssman hapten and blood group A lacto series glycolipids.
Disease Kanzaki disease (KANZD) [MIM
Disease Schindler disease (SCHIND) [MIM
Function Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
Miscellaneous Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N- acetylgalactosaminidase.
Sequence Caution Sequence=AAA59902.1; Type=Frameshift; Positions=320; Evidence= ;
Similarity Belongs to the glycosyl hydrolase 27 family.
Subcellular Location Lysosome.
Subunit Homodimer.

Identical and Related Proteins

Unique RefSeq proteins for LMP002748 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557781 RefSeq NP_000253 411 alpha-N-acetylgalactosaminidase precursor

Identical Sequences to LMP002748 proteins

Reference Database Accession Length Protein Name
GI:4557781 GenBank AFK96623.1 411 Sequence 47 from patent US 8158107
GI:4557781 GenBank AGA40514.1 411 Sequence 2 from patent US 8323640
GI:4557781 GenBank AHH77936.1 411 Sequence 47 from patent US 8629107
GI:4557781 GenBank AIB01729.1 411 Sequence 2 from patent US 8668907
GI:4557781 RefSeq XP_005261672.1 411 PREDICTED: alpha-N-acetylgalactosaminidase isoform X1 [Homo sapiens]
GI:4557781 RefSeq XP_005261673.1 411 PREDICTED: alpha-N-acetylgalactosaminidase isoform X2 [Homo sapiens]

Related Sequences to LMP002748 proteins

Reference Database Accession Length Protein Name
GI:4557781 GenBank AAE69555.1 411 Sequence 3 from patent US 6228631
GI:4557781 GenBank ACM85401.1 450 Sequence 10899 from patent US 6812339
GI:4557781 GenBank AEF60815.1 411 Sequence 4 from patent US 7935336
GI:4557781 GenBank AGA40515.1 411 Sequence 4 from patent US 8323640
GI:4557781 GenBank AIB01730.1 411 Sequence 4 from patent US 8668907
GI:4557781 RefSeq XP_009436780.1 411 PREDICTED: alpha-N-acetylgalactosaminidase isoform X1 [Pan troglodytes]