Homo sapiens (human): 2588
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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
Disease
H00123
Mucopolysaccharidosis type IV
H00421
Mucopolysaccharidosis
Drug target
Elosulfase alfa:
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)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Sulfatase
Sulfatase_C
Phosphodiest
SGSH_C
DUF229
Motif
Other DBs
NCBI-GeneID:
2588
NCBI-ProteinID:
NP_000503
OMIM:
612222
HGNC:
4122
Ensembl:
ENSG00000141012
UniProt:
P34059
Q96I49
Structure
PDB
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All DBs
Position
16:complement(88813734..88856947)
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AA seq
522 aa
AA seq
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MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLD
RMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDS
EQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPV
YRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVY
ASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG
GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSD
RAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP
GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALV
PAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
NT seq
1569 nt
NT seq
+upstream
nt +downstream
nt
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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