NAGPA
entrez
51172
canonical
uniprot
Q9UK23
canonical
ensembl
ENSG00000103174
resolver
ensp
ENSP00000310998
resolver
genesymbol
NAGPA
resolver
hgnc
HGNC:17378
resolver
uniprot
B2RAS1
resolver
uniprot
Q96EJ8
resolver
uniprot_entry
NAGPA_HUMAN
resolver
uniprot_sec
B2RAS1
resolver
uniprot_sec
Q96EJ8
resolver
amino_acid_sequence
MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPATPGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLRTFSVLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVSSSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGSIYINESQATECDETQETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLASYPSDHCQDNMWRCPRQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGNCSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269|PubMed:20147709}.
uniprot
proteins
ec_number
3.1.4.45
uniprot
proteins
function
FUNCTION: Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases. {ECO:0000269|PubMed:23572527}.
uniprot
proteins
mass_dalton
56073
uniprot
proteins
mutagenesis
MUTAGEN 51; /note="C->M: 65% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 115; /note="C->S: 15% of wild-type of activity, and almost no traffic to Golgi."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 132; /note="C->V: No traffic to Golgi."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 137; /note="N->A: 11% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 221; /note="C->L: 10% of wild-type of activity; when associated with M-51."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 225; /note="Q->H: 6% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 227; /note="T->R: Complete loss of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 247; /note="R->A: 87% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 284; /note="N->A: 22% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 286; /note="D->A: Complete loss of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 287; /note="G->A: 16% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 288; /note="G->A: Complete loss of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 289; /note="G->A: Complete loss of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 290; /note="S->A: Complete loss of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 320; /note="T->A: 43% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 322; /note="V->A: 67% of wild-type of activity."; /evidence="ECO:0000269|PubMed:23572527"; MUTAGEN 486; /note="Y->A: Interaction with AP4M1 is abolished."; /evidence="ECO:0000269|PubMed:26544806"; MUTAGEN 488; /note="Y->A: Interaction with AP4M1 is abolished."; /evidence="ECO:0000269|PubMed:26544806"; MUTAGEN 491; /note="L->A: Interaction with AP4M1 is abolished."; /evidence="ECO:0000269|PubMed:26544806
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
post_translational_modification
PTM: The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase. {ECO:0000269|PubMed:12058031}.
uniprot
proteins
pubmed
10551838
uniprot
proteins
pubmed
12058031
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
20147709
uniprot
proteins
pubmed
23572527
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26544806
uniprot
proteins
sequence_length
515
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12058031}; Single-pass type I membrane protein {ECO:0000269|PubMed:12058031}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:12058031}. Note=Cis/medial Golgi.
uniprot
proteins
transmembrane_region
TRANSMEM 449..469; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins