GALNS_HUMAN
ID GALNS_HUMAN Reviewed; 522 AA.
AC P34059; Q86VK3;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1994, sequence version 1.
DT 03-AUG-2022, entry version 204.
DE RecName: Full=N-acetylgalactosamine-6-sulfatase;
DE EC=3.1.6.4;
DE AltName: Full=Chondroitinsulfatase;
DE Short=Chondroitinase;
DE AltName: Full=Galactose-6-sulfate sulfatase;
DE Short=GalN6S;
DE AltName: Full=N-acetylgalactosamine-6-sulfate sulfatase;
DE Short=GalNAc6S sulfatase;
DE Flags: Precursor;
GN Name=GALNS;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND PARTIAL PROTEIN SEQUENCE.
RC TISSUE=Placenta;
RX PubMed=1755850; DOI=10.1016/0006-291x(91)91244-7;
RA Tomatsu S., Fukuda S., Masue M., Sukegawa K., Fukao T., Yamagishi A.,
RA Hori T., Iwata H., Ogawa T., Nakashima Y., Hanyu Y., Hashimoto T.,
RA Titani K., Oyama R., Suzuki M., Yagi K., Hayashi Y., Orii T.;
RT "Morquio disease: isolation, characterization and expression of full-length
RT cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.";
RL Biochem. Biophys. Res. Commun. 181:677-683(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8001980; DOI=10.1006/geno.1994.1443;
RA Morris C.P., Guo X.H., Apostolou S., Hopwood J.J., Scott H.S.;
RT "Morquio A syndrome: cloning, sequence, and structure of the human N-
RT acetylgalactosamine 6-sulfatase (GALNS) gene.";
RL Genomics 22:652-654(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-423.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [6]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 27-522, GLYCOSYLATION AT ASN-204
RP AND ASN-423, OXOALANINE AT CYS-79, SUBUNIT, COFACTOR, CATALYTIC ACTIVITY,
RP CALCIUM-BINDING SITES, AND DISULFIDE BONDS.
RX PubMed=22940367; DOI=10.1016/j.jmb.2012.08.020;
RA Rivera-Colon Y., Schutsky E.K., Kita A.Z., Garman S.C.;
RT "The structure of human GALNS reveals the molecular basis for
RT mucopolysaccharidosis IV A.";
RL J. Mol. Biol. 423:736-751(2012).
RN [7]
RP INVOLVEMENT IN MPS4A, AND VARIANT MPS4A LYS-204.
RX PubMed=1522213; DOI=10.1172/jci115919;
RA Fukuda S., Tomatsu S., Masue M., Sukegawa K., Iwata H., Ogawa T.,
RA Nakashima Y., Hori T., Yamagishi A., Hanyu Y., Morooka K., Kiman T.,
RA Hashimoto T., Orii T.;
RT "Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase
RT exonic point mutations in classical Morquio and mild cases.";
RL J. Clin. Invest. 90:1049-1053(1992).
RN [8]
RP VARIANTS MPS4A ARG-77; TRP-90; VAL-96; PHE-113; LEU-151; GLY-230; THR-291;
RP CYS-386 AND SER-487.
RX PubMed=7668283;
RA Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G.,
RA Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N.,
RA Suzuki Y., Shimozawa N., Orii T.;
RT "Mucopolysaccharidosis IVA: identification of a common missense mutation
RT I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.";
RL Am. J. Hum. Genet. 57:556-563(1995).
RN [9]
RP VARIANTS MPS4A.
RX PubMed=7795586; DOI=10.1093/hmg/4.3.341;
RA Ogawa T., Tomatsu S., Fukuda S., Yamagishi A., Maruf Rezvi G., Sukegawa K.,
RA Kondo N., Suzuki Y., Shimozawa N., Orii T.;
RT "Mucopolysaccharidosis IVA: screening and identification of mutations of
RT the N-acetylgalactosamine-6-sulfate sulfatase gene.";
RL Hum. Mol. Genet. 4:341-349(1995).
RN [10]
RP VARIANTS MPS4A ARG-77; TRP-90; VAL-96; LEU-151; GLY-230 AND THR-291.
RX PubMed=7633425; DOI=10.1093/hmg/4.4.741;
RA Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G.,
RA Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N.,
RA Suzuki Y., Shimozawa N., Orii T.;
RT "Mucopolysaccharidosis type IVA: identification of six novel mutations
RT among non-Japanese patients.";
RL Hum. Mol. Genet. 4:741-743(1995).
RN [11]
RP VARIANT MPS4A SER-487.
RX PubMed=7581409; DOI=10.1002/humu.1380060218;
RA Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamada N., Isogai K.,
RA Kato Z., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.;
RT "Two new mutations, Q473X and N487S, in a Caucasian patient with
RT mucopolysaccharidosis IVA (Morquio disease).";
RL Hum. Mutat. 6:195-196(1995).
RN [12]
RP VARIANTS MPS4A ALA-138; SER-151 AND LEU-151.
RX PubMed=8651279;
RA Tomatsu S., Fukuda S., Yamagishi A., Cooper A., Wraith J.E., Hori T.,
RA Kato Z., Yamada N., Isogai K., Sukegawa K., Kondo N., Suzuki Y.,
RA Shimozawa N., Orii T.;
RT "Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-
RT acetylgalactosamine-6-sulfate sulfatase deficiency.";
RL Am. J. Hum. Genet. 58:950-962(1996).
RN [13]
RP VARIANTS MPS4A CYS-94 AND VAL-97.
RX PubMed=8826435;
RX DOI=10.1002/(sici)1096-8628(19960628)63:4<558::aid-ajmg9>3.0.co;2-k;
RA Cole D.E.C., Fukuda S., Gordon B.A., Rip J.W., Lecouteur A.N., Rupar C.A.,
RA Tomatsu S., Ogawa T., Sukegawa K., Orii T.;
RT "Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase
RT (GALNS) gene in a mild form of Morquio disease (MPS IVA).";
RL Am. J. Med. Genet. 63:558-565(1996).
RN [14]
RP VARIANTS MPS4A.
RX PubMed=9298823;
RX DOI=10.1002/(sici)1098-1004(1997)10:3<223::aid-humu8>3.0.co;2-j;
RA Bunge S., Kleijer W.J., Tylki-Szymanska A., Steglich C., Beck M.,
RA Tomatsu S., Fukuda S., Poorthuis B.J.H.M., Czartoryska B., Orii T., Gal A.;
RT "Identification of 31 novel mutations in the N-acetylgalactosamine-6-
RT sulfatase gene reveals excessive allelic heterogeneity among patients with
RT Morquio A syndrome.";
RL Hum. Mutat. 10:223-232(1997).
RN [15]
RP VARIANTS MPS4A LEU-80; CYS-94; VAL-97; LEU-125; SER-139; GLN-166; GLY-185;
RP SER-290; ARG-309; VAL-351; CYS-386; VAL-391 AND PRO-395.
RX PubMed=9375852;
RX DOI=10.1002/(sici)1098-1004(1997)10:5<368::aid-humu6>3.0.co;2-b;
RA Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Ferreira P., di Natale P.,
RA Tortora P., Fujimoto A., Kato Z., Yamada N., Isogai K., Yamagishi A.,
RA Sukegawa K., Suzuki Y., Shimozawa N., Kondo N., Sly W.S., Orii T.;
RT "Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS
RT gene.";
RL Hum. Mutat. 10:368-375(1997).
RN [16]
RP VARIANTS MPS4A VAL-96; PHE-113; ARG-135; CYS-156; LEU-179; THR-257;
RP VAL-284; SER-312; GLN-376 AND VAL-395.
RX PubMed=9521421;
RX DOI=10.1002/(sici)1098-1004(1998)11:3<202::aid-humu4>3.0.co;2-j;
RA Yamada N., Fukuda S., Tomatsu S., Muller V., Hopwood J.J., Nelson J.,
RA Kato Z., Yamagishi A., Sukegawa K., Kondo N., Orii T.;
RT "Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and
RT Northern Ireland: nine novel mutations including T312S, a common allele
RT that confers a mild phenotype.";
RL Hum. Mutat. 11:202-208(1998).
RN [17]
RP VARIANTS SER-393 AND MET-488.
RX PubMed=9452036; DOI=10.1002/humu.1380110115;
RA Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamagishi A., Kato Z.,
RA Yamada N., Isogai K., Sukegawa K., Suzuki Y., Shimozawa N., Kondo N.,
RA Orii T.;
RT "Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase
RT (GALNS) gene: diagnostic implications in Morquio disease.";
RL Hum. Mutat. Suppl. 1:S42-S46(1998).
RN [18]
RP VARIANTS MPS4A MET-15; 17-LEU-SER-18 DEL; ARG-23; PRO-36; LEU-41; GLU-42;
RP 52-PRO--GLU-55 DEL; PHE-53; TRP-61; VAL-69; 71-ASN--SER-74 DELINS THR;
RP TYR-79; LEU-94; THR-107; SER-116; CYS-141; TYR-150; GLU-155; PHE-162;
RP THR-164; VAL-167; ALA-171; SER-179; VAL-203; ASN-233; PHE-239; TRP-253;
RP ASP-260; PHE-285 DEL; PRO-307; ASN-310; CYS-325; ASP-340; ARG-341; PRO-345;
RP PRO-352; LEU-357; PRO-369; THR-380; SER-380; HIS-386; ASN-388; VAL-392;
RP ASP-398; TYR-401; 403-TRP-THR-404 DEL; ILE-452; PRO-470 AND SER-484, AND
RP VARIANTS MET-67; VAL-178; MET-200; GLY-231; SER-393; VAL-459 AND MET-488.
RX PubMed=16287098; DOI=10.1002/humu.20257;
RA Tomatsu S., Montano A.M., Nishioka T., Gutierrez M.A., Pena O.M.,
RA Tranda Firescu G.G., Lopez P., Yamaguchi S., Noguchi A., Orii T.;
RT "Mutation and polymorphism spectrum of the GALNS gene in
RT mucopolysaccharidosis IVA (Morquio A).";
RL Hum. Mutat. 26:500-512(2005).
RN [19]
RP VARIANTS [LARGE SCALE ANALYSIS] TRP-61 AND THR-510.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [20]
RP VARIANTS MPS4A GLU-16; ARG-36; ASN-40; GLY-48; LYS-51; ARG-77; LEU-80;
RP LEU-81; GLU-84; TRP-90; PRO-91; CYS-94; LEU-94; PHE-113; VAL-116; SER-116;
RP SER-139; ARG-141; TYR-145; LEU-151; ARG-155; LEU-156; ARG-166; SER-179;
RP GLU-201; PRO-214; SER-216; GLY-230; ASN-233; LYS-235; THR-264; LEU-287;
RP THR-291; CYS-301; SER-312; ARG-318; LEU-357; GLY-380; THR-380; CYS-386;
RP HIS-386; VAL-391; VAL-392; HIS-407; VAL-415; THR-416; ARG-420; THR-492;
RP VAL-494; SER-500 AND PHE-507, VARIANTS PHE-74; ASP-121; CYS-159; TYR-165;
RP GLN-251; CYS-254; LYS-260 AND LYS-495, AND CHARACTERIZATION OF VARIANTS
RP MPS4A GLU-16; ARG-36; LYS-51; LEU-81; GLU-84; PRO-91; VAL-116; TYR-145;
RP LEU-156; ARG-166; GLU-201; PRO-214; SER-216; THR-264; GLY-380; VAL-415;
RP THR-416; ARG-420; THR-492 AND SER-500.
RX PubMed=24726177; DOI=10.1016/j.ymgme.2014.03.004;
RA Morrone A., Tylee K.L., Al-Sayed M., Brusius-Facchin A.C., Caciotti A.,
RA Church H.J., Coll M.J., Davidson K., Fietz M.J., Gort L., Hegde M.,
RA Kubaski F., Lacerda L., Laranjeira F., Leistner-Segal S., Mooney S.,
RA Pajares S., Pollard L., Ribeiro I., Wang R.Y., Miller N.;
RT "Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis
RT IVA) identifies 39 novel GALNS mutations.";
RL Mol. Genet. Metab. 112:160-170(2014).
CC -!- CATALYTIC ACTIVITY:
CC Reaction=Hydrolysis of the 6-sulfate groups of the N-acetyl-D-
CC galactosamine 6-sulfate units of chondroitin sulfate and of the D-
CC galactose 6-sulfate units of keratan sulfate.; EC=3.1.6.4;
CC Evidence={ECO:0000269|PubMed:22940367};
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
CC Evidence={ECO:0000269|PubMed:22940367};
CC Note=Binds 1 Ca(2+) ion per subunit. {ECO:0000269|PubMed:22940367};
CC -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:22940367}.
CC -!- SUBCELLULAR LOCATION: Lysosome.
CC -!- PTM: The conversion to 3-oxoalanine (also known as C-formylglycine,
CC FGly), of a serine or cysteine residue in prokaryotes and of a cysteine
CC residue in eukaryotes, is critical for catalytic activity.
CC {ECO:0000269|PubMed:22940367}.
CC -!- DISEASE: Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of
CC mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage
CC disease characterized by intracellular accumulation of keratan sulfate
CC and chondroitin-6-sulfate. Key clinical features include short stature,
CC skeletal dysplasia, dental anomalies, and corneal clouding.
CC Intelligence is normal and there is no direct central nervous system
CC involvement, although the skeletal changes may result in neurologic
CC complications. There is variable severity, but patients with the severe
CC phenotype usually do not survive past the second or third decade of
CC life. {ECO:0000269|PubMed:1522213, ECO:0000269|PubMed:16287098,
CC ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:7581409,
CC ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283,
CC ECO:0000269|PubMed:7795586, ECO:0000269|PubMed:8651279,
CC ECO:0000269|PubMed:8826435, ECO:0000269|PubMed:9298823,
CC ECO:0000269|PubMed:9375852, ECO:0000269|PubMed:9521421}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the sulfatase family. {ECO:0000305}.
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DR EMBL; D17629; BAA04535.1; -; Genomic_DNA.
DR EMBL; U06088; AAC51350.1; -; Genomic_DNA.
DR EMBL; U06078; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06079; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06080; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06081; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06082; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06083; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06084; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06085; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06086; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; U06087; AAC51350.1; JOINED; Genomic_DNA.
DR EMBL; BC050684; AAH50684.2; -; mRNA.
DR EMBL; BC056151; AAH56151.1; -; mRNA.
DR CCDS; CCDS10970.1; -.
DR PIR; JQ1299; KJHUG6.
DR RefSeq; NP_000503.1; NM_000512.4.
DR PDB; 4FDI; X-ray; 2.20 A; A/B=27-522.
DR PDB; 4FDJ; X-ray; 2.81 A; A/B=27-522.
DR PDBsum; 4FDI; -.
DR PDBsum; 4FDJ; -.
DR AlphaFoldDB; P34059; -.
DR SMR; P34059; -.
DR BioGRID; 108860; 129.
DR CORUM; P34059; -.
DR IntAct; P34059; 28.
DR STRING; 9606.ENSP00000268695; -.
DR ChEMBL; CHEMBL4523218; -.
DR DrugBank; DB09301; Chondroitin sulfate.
DR GlyConnect; 1531; 7 N-Linked glycans (2 sites).
DR GlyGen; P34059; 3 sites, 7 N-linked glycans (2 sites).
DR iPTMnet; P34059; -.
DR PhosphoSitePlus; P34059; -.
DR BioMuta; GALNS; -.
DR DMDM; 462148; -.
DR EPD; P34059; -.
DR jPOST; P34059; -.
DR MassIVE; P34059; -.
DR MaxQB; P34059; -.
DR PaxDb; P34059; -.
DR PeptideAtlas; P34059; -.
DR PRIDE; P34059; -.
DR ProteomicsDB; 54938; -.
DR Antibodypedia; 30794; 327 antibodies from 36 providers.
DR DNASU; 2588; -.
DR Ensembl; ENST00000268695.10; ENSP00000268695.5; ENSG00000141012.13.
DR GeneID; 2588; -.
DR KEGG; hsa:2588; -.
DR MANE-Select; ENST00000268695.10; ENSP00000268695.5; NM_000512.5; NP_000503.1.
DR UCSC; uc002fly.4; human.
DR CTD; 2588; -.
DR DisGeNET; 2588; -.
DR GeneCards; GALNS; -.
DR GeneReviews; GALNS; -.
DR HGNC; HGNC:4122; GALNS.
DR HPA; ENSG00000141012; Low tissue specificity.
DR MalaCards; GALNS; -.
DR MIM; 253000; phenotype.
DR MIM; 612222; gene.
DR neXtProt; NX_P34059; -.
DR OpenTargets; ENSG00000141012; -.
DR Orphanet; 309297; Mucopolysaccharidosis type 4A.
DR PharmGKB; PA28535; -.
DR VEuPathDB; HostDB:ENSG00000141012; -.
DR eggNOG; KOG3867; Eukaryota.
DR GeneTree; ENSGT00940000157787; -.
DR HOGENOM; CLU_006332_13_5_1; -.
DR InParanoid; P34059; -.
DR OMA; IMHHMDW; -.
DR OrthoDB; 515367at2759; -.
DR PhylomeDB; P34059; -.
DR TreeFam; TF314186; -.
DR BioCyc; MetaCyc:HS06790-MON; -.
DR BRENDA; 3.1.6.12; 2681.
DR BRENDA; 3.1.6.4; 2681.
DR PathwayCommons; P34059; -.
DR Reactome; R-HSA-2022857; Keratan sulfate degradation.
DR Reactome; R-HSA-2206290; MPS IV - Morquio syndrome A.
DR Reactome; R-HSA-6798695; Neutrophil degranulation.
DR SignaLink; P34059; -.
DR BioGRID-ORCS; 2588; 14 hits in 1077 CRISPR screens.
DR ChiTaRS; GALNS; human.
DR GeneWiki; Galactosamine-6_sulfatase; -.
DR GenomeRNAi; 2588; -.
DR Pharos; P34059; Tbio.
DR PRO; PR:P34059; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; P34059; protein.
DR Bgee; ENSG00000141012; Expressed in right uterine tube and 174 other tissues.
DR ExpressionAtlas; P34059; baseline and differential.
DR Genevisible; P34059; HS.
DR GO; GO:0035578; C:azurophil granule lumen; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0043202; C:lysosomal lumen; TAS:Reactome.
DR GO; GO:0004065; F:arylsulfatase activity; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003943; F:N-acetylgalactosamine-4-sulfatase activity; TAS:ProtInc.
DR GO; GO:0043890; F:N-acetylgalactosamine-6-sulfatase activity; TAS:Reactome.
DR GO; GO:0008484; F:sulfuric ester hydrolase activity; IDA:MGI.
DR CDD; cd16157; GALNS; 1.
DR Gene3D; 3.40.720.10; -; 1.
DR InterPro; IPR017850; Alkaline_phosphatase_core_sf.
DR InterPro; IPR035626; GALNS.
DR InterPro; IPR024607; Sulfatase_CS.
DR InterPro; IPR000917; Sulfatase_N.
DR Pfam; PF00884; Sulfatase; 1.
DR SUPFAM; SSF53649; SSF53649; 1.
DR PROSITE; PS00523; SULFATASE_1; 1.
DR PROSITE; PS00149; SULFATASE_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Calcium; Direct protein sequencing; Disease variant;
KW Disulfide bond; Dwarfism; Glycoprotein; Hydrolase; Lysosome; Metal-binding;
KW Mucopolysaccharidosis; Reference proteome; Signal.
FT SIGNAL 1..26
FT CHAIN 27..522
FT /note="N-acetylgalactosamine-6-sulfatase"
FT /id="PRO_0000033411"
FT REGION 27..379
FT /note="Catalytic domain"
FT ACT_SITE 79
FT /note="Nucleophile"
FT /evidence="ECO:0000269|PubMed:22940367"
FT ACT_SITE 142
FT /evidence="ECO:0000250|UniProtKB:P15289"
FT BINDING 39
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000269|PubMed:22940367"
FT BINDING 40
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000269|PubMed:22940367"
FT BINDING 79
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /note="via 3-oxoalanine"
FT /evidence="ECO:0000269|PubMed:22940367"
FT BINDING 288
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000269|PubMed:22940367"
FT BINDING 289
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000269|PubMed:22940367"
FT MOD_RES 79
FT /note="3-oxoalanine (Cys)"
FT /evidence="ECO:0000269|PubMed:22940367"
FT CARBOHYD 204
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22940367"
FT CARBOHYD 423
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218,
FT ECO:0000269|PubMed:22940367"
FT DISULFID 308..419
FT /evidence="ECO:0000269|PubMed:22940367"
FT DISULFID 489..518
FT /evidence="ECO:0000269|PubMed:22940367"
FT DISULFID 501..507
FT /evidence="ECO:0000269|PubMed:22940367"
FT VARIANT 15
FT /note="L -> M (in MPS4A; dbSNP:rs866745731)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024873"
FT VARIANT 16
FT /note="V -> E (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs794729202)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071569"
FT VARIANT 17..18
FT /note="Missing (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024874"
FT VARIANT 23
FT /note="G -> R (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024875"
FT VARIANT 36
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024876"
FT VARIANT 36
FT /note="L -> R (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs755832705)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071570"
FT VARIANT 40
FT /note="D -> N (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071571"
FT VARIANT 41
FT /note="M -> L (in MPS4A; dbSNP:rs1283377907)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024877"
FT VARIANT 42
FT /note="G -> E (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024878"
FT VARIANT 47
FT /note="G -> R (in MPS4A; severe form; dbSNP:rs199638097)"
FT /id="VAR_007172"
FT VARIANT 48
FT /note="V -> G (in MPS4A; dbSNP:rs191519947)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071572"
FT VARIANT 51
FT /note="E -> K (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs1296755011)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071573"
FT VARIANT 52..55
FT /note="Missing (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024879"
FT VARIANT 53
FT /note="S -> F (in MPS4A; dbSNP:rs1421990673)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024880"
FT VARIANT 60
FT /note="D -> N (in MPS4A; mild form; dbSNP:rs118204447)"
FT /id="VAR_007173"
FT VARIANT 61
FT /note="R -> W (in MPS4A; dbSNP:rs145798311)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:16959974"
FT /id="VAR_024881"
FT VARIANT 67
FT /note="L -> M (associated with S-409 in a MPS4A patient;
FT dbSNP:rs11862754)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_007174"
FT VARIANT 69
FT /note="F -> V (in MPS4A; dbSNP:rs118204445)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024882"
FT VARIANT 71..74
FT /note="NFYS -> T (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024883"
FT VARIANT 74
FT /note="S -> F"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071574"
FT VARIANT 77
FT /note="P -> R (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283"
FT /id="VAR_007175"
FT VARIANT 79
FT /note="C -> Y (in MPS4A; dbSNP:rs1263679818)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024884"
FT VARIANT 80
FT /note="S -> L (in MPS4A; intermediate form;
FT dbSNP:rs1209154325)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:9375852"
FT /id="VAR_007177"
FT VARIANT 81
FT /note="P -> L (in MPS4A; reduced enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071575"
FT VARIANT 84
FT /note="A -> E (in MPS4A; loss of enzymatic activity;
FT dbSNP:rs141340188)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071576"
FT VARIANT 90
FT /note="R -> W (in MPS4A; severe form; dbSNP:rs1028668536)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283"
FT /id="VAR_007178"
FT VARIANT 91
FT /note="L -> P (in MPS4A; loss of enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071577"
FT VARIANT 94
FT /note="R -> C (in MPS4A; mild/intermediate form;
FT dbSNP:rs118204441)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:8826435, ECO:0000269|PubMed:9375852"
FT /id="VAR_007179"
FT VARIANT 94
FT /note="R -> G (in MPS4A; mild/intermediate form;
FT dbSNP:rs118204441)"
FT /id="VAR_007180"
FT VARIANT 94
FT /note="R -> L (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024885"
FT VARIANT 96
FT /note="G -> C (in MPS4A)"
FT /id="VAR_007181"
FT VARIANT 96
FT /note="G -> V (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:7633425,
FT ECO:0000269|PubMed:7668283, ECO:0000269|PubMed:9521421"
FT /id="VAR_007182"
FT VARIANT 97
FT /note="F -> V (in MPS4A; mild form)"
FT /evidence="ECO:0000269|PubMed:8826435,
FT ECO:0000269|PubMed:9375852"
FT /id="VAR_007183"
FT VARIANT 107
FT /note="A -> T (in MPS4A; dbSNP:rs763184657)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024886"
FT VARIANT 111
FT /note="Q -> R (in MPS4A; intermediate form)"
FT /id="VAR_007184"
FT VARIANT 113
FT /note="I -> F (in MPS4A; severe form; common mutation;
FT found in patients with Irish-British ancestry;
FT dbSNP:rs118204438)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7668283, ECO:0000269|PubMed:9521421"
FT /id="VAR_007185"
FT VARIANT 116
FT /note="G -> S (in MPS4A; dbSNP:rs1444754604)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024887"
FT VARIANT 116
FT /note="G -> V (in MPS4A; reduced enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071578"
FT VARIANT 121
FT /note="E -> D"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071579"
FT VARIANT 125
FT /note="P -> L (in MPS4A; severe form; dbSNP:rs746949976)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007186"
FT VARIANT 135
FT /note="S -> R (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007187"
FT VARIANT 138
FT /note="V -> A (in MPS4A; mild/severe/intermediate form;
FT dbSNP:rs118204436)"
FT /evidence="ECO:0000269|PubMed:8651279"
FT /id="VAR_007188"
FT VARIANT 139
FT /note="G -> S (in MPS4A; severe form; dbSNP:rs146093755)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:9375852"
FT /id="VAR_007189"
FT VARIANT 141
FT /note="W -> C (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024888"
FT VARIANT 141
FT /note="W -> R (in MPS4A; severe form; dbSNP:rs794727625)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007190"
FT VARIANT 145
FT /note="H -> Y (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs577334837)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071580"
FT VARIANT 150
FT /note="H -> Y (in MPS4A; dbSNP:rs1168278189)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024889"
FT VARIANT 151
FT /note="P -> L (in MPS4A; severe form; dbSNP:rs559063128)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283,
FT ECO:0000269|PubMed:8651279"
FT /id="VAR_007191"
FT VARIANT 151
FT /note="P -> S (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:8651279"
FT /id="VAR_007192"
FT VARIANT 155
FT /note="G -> E (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024890"
FT VARIANT 155
FT /note="G -> R (in MPS4A; severe form; dbSNP:rs398123438)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007193"
FT VARIANT 156
FT /note="F -> C (in MPS4A; severe form; dbSNP:rs1301146300)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007194"
FT VARIANT 156
FT /note="F -> L (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs1308500116)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071581"
FT VARIANT 156
FT /note="F -> S (in MPS4A; mild form)"
FT /id="VAR_007195"
FT VARIANT 159
FT /note="W -> C"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071582"
FT VARIANT 162
FT /note="S -> F (in MPS4A; dbSNP:rs118204444)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024891"
FT VARIANT 164
FT /note="N -> T (in MPS4A; dbSNP:rs761725425)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024892"
FT VARIANT 165
FT /note="C -> Y (in dbSNP:rs768757999)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071583"
FT VARIANT 166
FT /note="H -> Q (in MPS4A; severe form; dbSNP:rs1301198698)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007196"
FT VARIANT 166
FT /note="H -> R (in MPS4A; reduced enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071584"
FT VARIANT 167
FT /note="F -> V (in MPS4A; dbSNP:rs148565559)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024893"
FT VARIANT 168
FT /note="G -> R (in MPS4A; dbSNP:rs775732598)"
FT /id="VAR_007197"
FT VARIANT 171
FT /note="D -> A (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024894"
FT VARIANT 178
FT /note="I -> V"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_007198"
FT VARIANT 179
FT /note="P -> H (in MPS4A; severe form)"
FT /id="VAR_007199"
FT VARIANT 179
FT /note="P -> L (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007200"
FT VARIANT 179
FT /note="P -> S (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024895"
FT VARIANT 185
FT /note="E -> G (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007201"
FT VARIANT 200
FT /note="T -> M (in dbSNP:rs7187889)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_007202"
FT VARIANT 201
FT /note="G -> E (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs772413313)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071585"
FT VARIANT 203
FT /note="A -> V (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024896"
FT VARIANT 204
FT /note="N -> K (in MPS4A; mild form; dbSNP:rs118204435)"
FT /evidence="ECO:0000269|PubMed:1522213"
FT /id="VAR_007203"
FT VARIANT 214
FT /note="L -> P (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs771810111)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071586"
FT VARIANT 216
FT /note="F -> S (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs747805226)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071587"
FT VARIANT 230
FT /note="W -> G (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283"
FT /id="VAR_007204"
FT VARIANT 231
FT /note="A -> G (in dbSNP:rs34745339)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_007205"
FT VARIANT 233
FT /note="D -> N (in MPS4A; dbSNP:rs753051547)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024897"
FT VARIANT 235
FT /note="T -> K (in MPS4A; dbSNP:rs398123440)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071588"
FT VARIANT 239
FT /note="V -> F (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024898"
FT VARIANT 247
FT /note="G -> D (in MPS4A; dbSNP:rs761385192)"
FT /id="VAR_007206"
FT VARIANT 251
FT /note="R -> Q (in dbSNP:rs1199639828)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071589"
FT VARIANT 253
FT /note="R -> W (in MPS4A; dbSNP:rs775300515)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024899"
FT VARIANT 254
FT /note="Y -> C"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071590"
FT VARIANT 257
FT /note="A -> T (in MPS4A; severe form; dbSNP:rs773283163)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007207"
FT VARIANT 259
FT /note="R -> Q (in MPS4A; mild form; dbSNP:rs118204442)"
FT /id="VAR_007208"
FT VARIANT 260
FT /note="E -> D (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024900"
FT VARIANT 260
FT /note="E -> K"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071591"
FT VARIANT 264
FT /note="S -> T (in MPS4A; reduced enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071592"
FT VARIANT 279..287
FT /note="Missing (in MPS4A; mild form)"
FT /id="VAR_007209"
FT VARIANT 284
FT /note="F -> V (in MPS4A; severe form; dbSNP:rs144067930)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007210"
FT VARIANT 285
FT /note="Missing (in MPS4A; dbSNP:rs768664270)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024901"
FT VARIANT 287
FT /note="S -> L (in MPS4A; severe form; dbSNP:rs770053354)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007211"
FT VARIANT 290
FT /note="G -> S (in MPS4A; severe form; dbSNP:rs975409254)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007212"
FT VARIANT 291
FT /note="A -> D (in MPS4A; mild form)"
FT /id="VAR_007213"
FT VARIANT 291
FT /note="A -> T (in MPS4A; severe form; dbSNP:rs118204448)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283"
FT /id="VAR_007214"
FT VARIANT 295
FT /note="S -> F (in MPS4A; mild form; dbSNP:rs149239881)"
FT /id="VAR_007215"
FT VARIANT 301
FT /note="G -> C (in MPS4A; severe form; dbSNP:rs118204443)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007216"
FT VARIANT 307
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024902"
FT VARIANT 309
FT /note="G -> R (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007217"
FT VARIANT 310
FT /note="K -> N (in MPS4A; dbSNP:rs377285422)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024903"
FT VARIANT 312
FT /note="T -> S (in MPS4A; mild/intermediate/severe form;
FT dbSNP:rs118204446)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:9521421"
FT /id="VAR_007218"
FT VARIANT 318
FT /note="M -> R (in MPS4A; severe form; dbSNP:rs746756997)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007219"
FT VARIANT 325
FT /note="W -> C (in MPS4A; dbSNP:rs1269110043)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024904"
FT VARIANT 325
FT /note="Missing (in MPS4A)"
FT /id="VAR_007220"
FT VARIANT 340
FT /note="G -> D (in MPS4A; dbSNP:rs267606838)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024905"
FT VARIANT 341
FT /note="S -> R (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024906"
FT VARIANT 343
FT /note="M -> R (in MPS4A; severe form)"
FT /id="VAR_007221"
FT VARIANT 344
FT /note="D -> E (in MPS4A)"
FT /id="VAR_007222"
FT VARIANT 344
FT /note="D -> N (in MPS4A; severe form)"
FT /id="VAR_007223"
FT VARIANT 345
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024907"
FT VARIANT 346
FT /note="F -> L (in MPS4A; severe form)"
FT /id="VAR_007224"
FT VARIANT 351
FT /note="A -> V (in MPS4A; severe form; dbSNP:rs761386453)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007225"
FT VARIANT 352
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024908"
FT VARIANT 357
FT /note="P -> L (in MPS4A; dbSNP:rs769748679)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024909"
FT VARIANT 361
FT /note="R -> G (in MPS4A; dbSNP:rs778120439)"
FT /id="VAR_007226"
FT VARIANT 369
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024910"
FT VARIANT 376
FT /note="R -> Q (in MPS4A; severe form; dbSNP:rs150734270)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007227"
FT VARIANT 380
FT /note="R -> G (in MPS4A; loss of enzymatic activity;
FT dbSNP:rs770908172)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071593"
FT VARIANT 380
FT /note="R -> S (in MPS4A; dbSNP:rs200763834)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024911"
FT VARIANT 380
FT /note="R -> T (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024912"
FT VARIANT 386
FT /note="R -> C (in MPS4A; severe form; dbSNP:rs118204437)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:7668283, ECO:0000269|PubMed:9375852"
FT /id="VAR_007228"
FT VARIANT 386
FT /note="R -> H (in MPS4A; dbSNP:rs1221167717)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024913"
FT VARIANT 388
FT /note="D -> N (in MPS4A; dbSNP:rs373739301)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024914"
FT VARIANT 391
FT /note="M -> V (in MPS4A; severe form; dbSNP:rs398123429)"
FT /evidence="ECO:0000269|PubMed:24726177,
FT ECO:0000269|PubMed:9375852"
FT /id="VAR_007229"
FT VARIANT 392
FT /note="A -> V (in MPS4A; dbSNP:rs398123430)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:24726177"
FT /id="VAR_024915"
FT VARIANT 393
FT /note="A -> S (in dbSNP:rs2303269)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:9452036"
FT /id="VAR_007230"
FT VARIANT 395
FT /note="L -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:9375852"
FT /id="VAR_007231"
FT VARIANT 395
FT /note="L -> V (in MPS4A; severe form)"
FT /evidence="ECO:0000269|PubMed:9521421"
FT /id="VAR_007232"
FT VARIANT 398
FT /note="H -> D (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024916"
FT VARIANT 401
FT /note="H -> Y (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024917"
FT VARIANT 403..404
FT /note="Missing (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024918"
FT VARIANT 407
FT /note="N -> H (in MPS4A; dbSNP:rs749578474)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007233"
FT VARIANT 409
FT /note="W -> S (in MPS4A; associated with M-67 in a
FT patient)"
FT /id="VAR_007234"
FT VARIANT 415
FT /note="G -> V (in MPS4A; loss of enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071594"
FT VARIANT 416
FT /note="I -> T (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs142822371)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071595"
FT VARIANT 420
FT /note="P -> R (in MPS4A; reduced enzymatic activity)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071596"
FT VARIANT 450
FT /note="E -> V (in MPS4A; severe form)"
FT /id="VAR_007235"
FT VARIANT 452
FT /note="F -> I (in MPS4A; dbSNP:rs398123432)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024919"
FT VARIANT 459
FT /note="A -> V (in dbSNP:rs114703967)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_007236"
FT VARIANT 470
FT /note="S -> P (in MPS4A)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024920"
FT VARIANT 484
FT /note="P -> S (in MPS4A; dbSNP:rs1204485789)"
FT /evidence="ECO:0000269|PubMed:16287098"
FT /id="VAR_024921"
FT VARIANT 487
FT /note="N -> S (in MPS4A; dbSNP:rs118204440)"
FT /evidence="ECO:0000269|PubMed:7581409,
FT ECO:0000269|PubMed:7668283"
FT /id="VAR_007237"
FT VARIANT 488
FT /note="V -> M (in dbSNP:rs78127134)"
FT /evidence="ECO:0000269|PubMed:16287098,
FT ECO:0000269|PubMed:9452036"
FT /id="VAR_007238"
FT VARIANT 492
FT /note="A -> T (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs760300454)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071597"
FT VARIANT 494
FT /note="M -> V (in MPS4A; severe form; dbSNP:rs1401175486)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_007239"
FT VARIANT 495
FT /note="N -> K (in dbSNP:rs886039377)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071598"
FT VARIANT 500
FT /note="G -> S (in MPS4A; reduced enzymatic activity;
FT dbSNP:rs1303492021)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071599"
FT VARIANT 507
FT /note="C -> F (in MPS4A; dbSNP:rs398123433)"
FT /evidence="ECO:0000269|PubMed:24726177"
FT /id="VAR_071600"
FT VARIANT 510
FT /note="P -> T (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036493"
FT STRAND 32..40
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 47..49
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 57..64
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 66..68
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 70..73
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 75..78
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 79..88
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 92..95
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 124..128
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 129..131
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 134..139
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 147..149
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 151..153
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 157..161
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 172..175
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 179..182
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 185..190
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 191..193
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 198..200
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 205..220
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 221..223
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 226..231
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 236..238
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 243..245
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 252..274
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 278..280
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 281..289
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 296..298
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 312..314
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 315..318
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 322..325
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 327..329
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 344..353
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 359..361
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 369..374
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 382..386
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 389..395
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 398..404
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 409..413
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 425..427
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 436..438
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 440..443
FT /evidence="ECO:0007829|PDB:4FDI"
FT TURN 444..446
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 459..477
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 485..489
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 491..493
FT /evidence="ECO:0007829|PDB:4FDI"
FT STRAND 494..497
FT /evidence="ECO:0007829|PDB:4FDI"
FT HELIX 501..504
FT /evidence="ECO:0007829|PDB:4FDI"
SQ SEQUENCE 522 AA; 58026 MW; 1D086E528AAAE949 CRC64;
MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG EPSRETPNLD
RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT NAHARNAYTP QEIVGGIPDS
EQLLPELLKK AGYVSKIVGK WHLGHRPQFH PLKHGFDEWF GSPNCHFGPY DNKARPNIPV
YRDWEMVGRY YEEFPINLKT GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY
ASKPFLGTSQ RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG
GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL ALAGLTPPSD
RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA HFWTWTNSWE NFRQGIDFCP
GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE RFPLSFASAE YQEALSRITS VVQQHQEALV
PAQPQLNVCN WAVMNWAPPG CEKLGKCLTP PESIPKKCLW SH
