KEGG   Homo sapiens (human): 4669
Entry
4669              CDS       T01001                                 
Symbol
NAGLU, CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
Name
(RefSeq) N-acetyl-alpha-glucosaminidase
  KO
K01205  alpha-N-acetylglucosaminidase [EC:3.2.1.50]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00531  Glycosaminoglycan degradation
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00078  Heparan sulfate degradation
Network
nt06012  Glycosaminoglycan degradation
  Element
N00615  Heparan sulfate degradation
Disease
H00130  Mucopolysaccharidosis type III
H00264  Charcot-Marie-Tooth disease
H00421  Mucopolysaccharidosis
Drug target
Lesinidase alfa: D11199
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    4669 (NAGLU)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    4669 (NAGLU)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    4669 (NAGLU)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.50  alpha-N-acetylglucosaminidase
     4669 (NAGLU)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   4669 (NAGLU)
SSDB
Motif
Pfam: NAGLU NAGLU_C NAGLU_N DUF6725
Other DBs
NCBI-GeneID: 4669
NCBI-ProteinID: NP_000254
OMIM: 609701
HGNC: 7632
Ensembl: ENSG00000108784
UniProt: P54802 A0A140VJE4
Position
17:42536241..42544449
AA seq 743 aa
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKP
GLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGE
LTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYL
ALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP
VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELI
KEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQF
WGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGAL
EAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA
RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAW
RLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAY
ELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYAN
KQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR
GDTVDLAKKIFLKYYPRWVAGSW
NT seq 2232 nt   +upstreamnt  +downstreamnt
atggaggcggtggcggtggccgcggcggtgggggtccttctcctggccggggccgggggc
gcggcaggcgacgaggcccgggaggcggcggccgtgcgggcgctcgtggcccggctgctg
gggccaggccccgcggccgacttctccgtgtcggtggagcgcgctctggctgccaagccg
ggcttggacacctacagcctgggcggcggcggcgcggcgcgcgtgcgggtgcgcggctcc
acgggcgtggcggccgccgcggggctgcaccgctacctgcgcgacttctgtggctgccac
gtggcctggtccggctctcagctgcgcctgccgcggccactgccagccgtgccgggggag
ctgaccgaggccacgcccaacaggtaccgctattaccagaatgtgtgcacgcaaagctac
tctttcgtgtggtgggactgggcccgctgggagcgagagatagactggatggcgctgaat
ggcatcaacctggcactggcctggagcggccaggaggccatctggcagcgggtgtacctg
gccttgggcctgacccaggcagagatcaatgagttctttactggtcctgccttcctggcc
tgggggcgaatgggcaacctgcacacctgggatggccccctgcccccctcctggcacatc
aagcagctttacctgcagcaccgggtcctggaccagatgcgctccttcggcatgacccca
gtgctgcctgcattcgcggggcatgttcccgaggctgtcaccagggtgttccctcaggtc
aatgtcacgaagatgggcagttggggccactttaactgttcctactcctgctccttcctt
ctggctccggaagaccccatattccccatcatcgggagcctcttcctgcgagagctgatc
aaagagtttggcacagaccacatctatggggccgacactttcaatgagatgcagccacct
tcctcagagccctcctaccttgccgcagccaccactgccgtctatgaggccatgactgca
gtggatactgaggctgtgtggctgctccaaggctggctcttccagcaccagccgcagttc
tgggggcccgcccagatcagggctgtgctgggagctgtgccccgtggccgcctcctggtt
ctggacctgtttgctgagagccagcctgtgtatacccgcactgcctccttccagggccag
cccttcatctggtgcatgctgcacaactttgggggaaaccatggtctttttggagcccta
gaggctgtgaacggaggcccagaagctgcccgcctcttccccaactccaccatggtaggc
acgggcatggcccccgagggcatcagccagaacgaagtggtctattccctcatggctgag
ctgggctggcgaaaggacccagtgccagatttggcagcctgggtgaccagctttgccgcc
cggcggtatggggtctcccacccggacgcaggggcagcgtggaggctactgctccggagt
gtgtacaactgctccggggaggcctgcaggggccacaatcgtagcccgctggtcaggcgg
ccgtccctacagatgaataccagcatctggtacaaccgatctgatgtgtttgaggcctgg
cggctgctgctcacatctgctccctccctggccaccagccccgccttccgctacgacctg
ctggacctcactcggcaggcagtgcaggagctggtcagcttgtactatgaggaggcaaga
agcgcctacctgagcaaggagctggcctccctgttgagggctggaggcgtcctggcctat
gagctgctgccggcactggacgaggtgctggctagtgacagccgcttcttgctgggcagc
tggctagagcaggcccgagcagcggcagtcagtgaggccgaggccgatttctacgagcag
aacagccgctaccagctgaccttgtgggggccagaaggcaacatcctggactatgccaac
aagcagctggcggggttggtggccaactactacacccctcgctggcggcttttcctggag
gcgctggttgacagtgtggcccagggcatccctttccaacagcaccagtttgacaaaaat
gtcttccaactggagcaggccttcgttctcagcaagcagaggtaccccagccagccgcga
ggagacactgtggacctggccaagaagatcttcctcaaatattacccccgctgggtggcc
ggctcttggtga

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