KEGG   Homo sapiens (human): 2990
Entry
2990              CDS       T01001                                 

Gene name
GUSB, BG, MPS7
Definition
(RefSeq) glucuronidase beta
  KO
K01195  beta-glucuronidase [EC:3.2.1.31]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00040  Pentose and glucuronate interconversions
hsa00531  Glycosaminoglycan degradation
hsa00860  Porphyrin and chlorophyll metabolism
hsa00983  Drug metabolism - other enzymes
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00014  Glucuronate pathway (uronate pathway)
hsa_M00076  Dermatan sulfate degradation
hsa_M00077  Chondroitin sulfate degradation
hsa_M00078  Heparan sulfate degradation
Network
nt06012  Glycosaminoglycan degradation
  Element
N00615  Heparan sulfate degradation
N00616  GNS deficiency in heparan sulfate degradation
N00617  GUSB deficiency in heparan sulfate degradation
N10022  Replacement of deficient GUSB
Disease
H00132  Mucopolysaccharidosis type VII
H00421  Mucopolysaccharidosis
Drug target
Aceglatone: D01805
Vestronidase alfa: D11004<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00040 Pentose and glucuronate interconversions
    2990 (GUSB)
  09107 Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    2990 (GUSB)
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    2990 (GUSB)
  09111 Xenobiotics biodegradation and metabolism
   00983 Drug metabolism - other enzymes
    2990 (GUSB)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2990 (GUSB)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.31  beta-glucuronidase
     2990 (GUSB)
SSDB
Motif
Pfam: Glyco_hydro_2_C Glyco_hydro_2_N Glyco_hydro_2 Glyco_hydro_42
Other DBs
NCBI-GeneID: 2990
NCBI-ProteinID: NP_000172
OMIM: 611499
HGNC: 4696
Ensembl: ENSG00000169919
Vega: OTTHUMG00000023735
Pharos: P08236(Tchem)
UniProt: P08236
Structure
PDB: 
3HN3 1BHG

Position
7q11.21
AA seq 651 aa
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFE
EQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVV
LRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTT
LPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL
YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKG
FDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN
VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT
FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSE
YGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR
VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT
NT seq 1956 nt   +upstreamnt  +downstreamnt
atggcccgggggtcggcggttgcctgggcggcgctcgggccgttgttgtggggctgcgcg
ctggggctgcagggcgggatgctgtacccccaggagagcccgtcgcgggagtgcaaggag
ctggacggcctctggagcttccgcgccgacttctctgacaaccgacgccggggcttcgag
gagcagtggtaccggcggccgctgtgggagtcaggccccaccgtggacatgccagttccc
tccagcttcaatgacatcagccaggactggcgtctgcggcattttgtcggctgggtgtgg
tacgaacgggaggtgatcctgccggagcgatggacccaggacctgcgcacaagagtggtg
ctgaggattggcagtgcccattcctatgccatcgtgtgggtgaatggggtcgacacgcta
gagcatgaggggggctacctccccttcgaggccgacatcagcaacctggtccaggtgggg
cccctgccctcccggctccgaatcactatcgccatcaacaacacactcacccccaccacc
ctgccaccagggaccatccaatacctgactgacacctccaagtatcccaagggttacttt
gtccagaacacatattttgactttttcaactacgctggactgcagcggtctgtacttctg
tacacgacacccaccacctacatcgatgacatcaccgtcaccaccagcgtggagcaagac
agtgggctggtgaattaccagatctctgtcaagggcagtaacctgttcaagttggaagtg
cgtcttttggatgcagaaaacaaagtcgtggcgaatgggactgggacccagggccaactt
aaggtgccaggtgtcagcctctggtggccgtacctgatgcacgaacgccctgcctatctg
tattcattggaggtgcagctgactgcacagacgtcactggggcctgtgtctgacttctac
acactccctgtggggatccgcactgtggctgtcaccaagagccagttcctcatcaatggg
aaacctttctatttccacggtgtcaacaagcatgaggatgcggacatccgagggaagggc
ttcgactggccgctgctggtgaaggacttcaacctgcttcgctggcttggtgccaacgct
ttccgtaccagccactacccctatgcagaggaagtgatgcagatgtgtgaccgctatggg
attgtggtcatcgatgagtgtcccggcgtgggcctggcgctgccgcagttcttcaacaac
gtttctctgcatcaccacatgcaggtgatggaagaagtggtgcgtagggacaagaaccac
cccgcggtcgtgatgtggtctgtggccaacgagcctgcgtcccacctagaatctgctggc
tactacttgaagatggtgatcgctcacaccaaatccttggacccctcccggcctgtgacc
tttgtgagcaactctaactatgcagcagacaagggggctccgtatgtggatgtgatctgt
ttgaacagctactactcttggtatcacgactacgggcacctggagttgattcagctgcag
ctggccacccagtttgagaactggtataagaagtatcagaagcccattattcagagcgag
tatggagcagaaacgattgcagggtttcaccaggatccacctctgatgttcactgaagag
taccagaaaagtctgctagagcagtaccatctgggtctggatcaaaaacgcagaaaatac
gtggttggagagctcatttggaattttgccgatttcatgactgaacagtcaccgacgaga
gtgctggggaataaaaaggggatcttcactcggcagagacaaccaaaaagtgcagcgttc
cttttgcgagagagatactggaagattgccaatgaaaccaggtatccccactcagtagcc
aagtcacaatgtttggaaaacagcctgtttacttga

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