KEGG   Homo sapiens (human): 2588
Entry
2588              CDS       T01001                                 
Symbol
GALNS, GALNAC6S, GAS, GalN6S, MPS4A
Name
(RefSeq) galactosamine (N-acetyl)-6-sulfatase
  KO
K01132  N-acetylgalactosamine-6-sulfatase [EC:3.1.6.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00531  Glycosaminoglycan degradation
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00077  Chondroitin sulfate degradation
hsa_M00079  Keratan sulfate degradation
Network
nt06012  Glycosaminoglycan degradation
  Element
N00623  Keratan sulfate degradation
N10010  Replacement of deficient GALNS
Disease
H00123  Mucopolysaccharidosis type IV
H00421  Mucopolysaccharidosis
Drug target
Elosulfasealfa: D10333<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    2588 (GALNS)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2588 (GALNS)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.6  Sulfuric-ester hydrolases
    3.1.6.4  N-acetylgalactosamine-6-sulfatase
     2588 (GALNS)
SSDB
Motif
Pfam: Sulfatase Sulfatase_C Phosphodiest DUF229
Other DBs
NCBI-GeneID: 2588
NCBI-ProteinID: NP_000503
OMIM: 612222
HGNC: 4122
Ensembl: ENSG00000141012
Pharos: P34059(Tbio)
UniProt: P34059 Q96I49
Structure
LinkDB
Position
16:complement(88813734..88856947)
AA seq 522 aa
MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLD
RMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDS
EQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPV
YRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVY
ASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG
GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSD
RAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP
GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALV
PAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
NT seq 1569 nt   +upstreamnt  +downstreamnt
atggcggcggttgtcgcggcgacgaggtggtggcagctgttgctggtgctcagcgccgcg
gggatgggggcctcgggcgccccgcagccccccaacatcctgctcctgctcatggacgac
atgggatggggtgacctcggggtgtatggagagccctccagagagaccccgaatttggac
cggatggctgcagaagggctgcttttcccaaacttctattctgccaaccctctgtgctcg
ccatcgagggcggcactgctcacaggacggctacccatccgcaatggcttctacaccacc
aacgcccatgccagaaacgcctacacaccgcaggagattgtgggcggcatcccagactcg
gagcagctcctgccggagcttctgaagaaggccggctacgtcagcaagattgtcggcaag
tggcatctgggtcacaggccccagttccaccccctgaagcacggatttgatgagtggttt
ggatcccccaactgccactttggaccttatgacaacaaggccaggcccaacatccctgtg
tacagggactgggagatggttggcagatattatgaagaatttcctattaatctgaagacg
ggggaagccaacctcacccagatctacctgcaggaagccctggacttcattaagagacag
gcacggcaccacccctttttcctctactgggctgtcgacgccacgcacgcacccgtctat
gcctccaaacccttcttgggcaccagtcagcgagggcggtatggagacgccgtccgggag
attgatgacagcattgggaagatactggagctcctccaagacctgcacgtcgcggacaac
accttcgtcttcttcacgtcggacaacggcgctgccctcatttccgcccccgaacaaggt
ggcagcaacggcccctttctgtgtgggaagcagaccacgtttgaaggagggatgagggag
cctgccctcgcatggtggccagggcacgtcactgcaggccaggtgagccaccagctgggc
agcatcatggacctcttcaccaccagcctggcccttgcgggcctgacgccgcccagcgac
agggccattgatggcctcaacctcctccccaccctcctgcagggccggctgatggacagg
cctatcttctattaccgtggcgacacgctgatggcggccaccctcgggcagcacaaggct
cacttctggacctggaccaactcctgggagaacttcagacagggcattgatttctgccct
gggcagaacgtttcaggggtcacaactcacaatctggaagaccacacgaagctgcccctg
atcttccacctgggacgggacccaggggagaggttccccctcagctttgccagcgccgag
taccaggaggccctcagcaggatcacctcggtcgtccagcagcaccaggaggccttggtc
cccgcgcagccccagctcaacgtgtgcaactgggcggtcatgaactgggcacctccgggc
tgtgaaaagttagggaagtgtctgacacctccagaatccattcccaagaagtgcctctgg
tcccactag

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