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
N00624  GNS deficiency in keratan sulfate degradation
N00625  GLB1 deficiency in keratan sulfate degradation
N00626  GALNS deficiency in 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
Vega: OTTHUMG00000137862
Pharos: P34059(Tbio)
UniProt: P34059 Q96I49
Structure
PDB: 
4FDI 4FDJ

Position
16q24.3
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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