GALNS
entrez
2588
canonical
uniprot
P34059
canonical
ensembl
ENSG00000141012
resolver
ensp
ENSP00000268695
resolver
ensp
ENSP00000666146
resolver
ensp
ENSP00000703757
resolver
enst
ENST00000268695
resolver
genesymbol
GALNS
resolver
hgnc
HGNC:4122
resolver
uniprot
Q6YL38
resolver
uniprot
Q86VK3
resolver
uniprot
Q96I49
resolver
uniprot_entry
GALNS_HUMAN
resolver
uniprot_entry
Q6YL38_HUMAN
resolver
uniprot_entry
Q96I49_HUMAN
resolver
uniprot_sec
Q86VK3
resolver
amino_acid_sequence
MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. {ECO:0000269|PubMed:1522213, ECO:0000269|PubMed:16287098, ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:25287660, ECO:0000269|PubMed:7581409, ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283, ECO:0000269|PubMed:7795586, ECO:0000269|PubMed:8651279, ECO:0000269|PubMed:8826435, ECO:0000269|PubMed:9298823, ECO:0000269|PubMed:9375852, ECO:0000269|PubMed:9521421}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.6.4
uniprot
proteins
function
FUNCTION: Lysosomal enzyme that hydrolyzes sulfate groups from glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). {ECO:0000269|PubMed:820716}.
uniprot
proteins
mass_dalton
58026
uniprot
proteins
post_translational_modification
PTM: The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. {ECO:0000269|PubMed:22940367}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
1522213
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16287098
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1755850
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
22940367
uniprot
proteins
pubmed
24726177
uniprot
proteins
pubmed
25287660
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30760748
uniprot
proteins
pubmed
7581409
uniprot
proteins
pubmed
7633425
uniprot
proteins
pubmed
7668283
uniprot
proteins
pubmed
7795586
uniprot
proteins
pubmed
8001980
uniprot
proteins
pubmed
820716
uniprot
proteins
pubmed
8651279
uniprot
proteins
pubmed
8826435
uniprot
proteins
pubmed
9298823
uniprot
proteins
pubmed
9375852
uniprot
proteins
pubmed
9452036
uniprot
proteins
pubmed
9521421
uniprot
proteins
sequence_length
522
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:30760748}.
uniprot
proteins