P34059 (GALNS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetylgalactosamine-6-sulfatase
EC=3.1.6.4

Alternative name(s):
Chondroitinsulfatase
Short name=Chondroitinase
Galactose-6-sulfate sulfatase
Short name=GalN6S
N-acetylgalactosamine-6-sulfate sulfatase
Short name=GalNAc6S sulfatase

Gene names

Name:

GALNS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	522 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate. Ref.5
Cofactor	Binds 1 calcium ion per subunit. Ref.5
Subunit structure	Homodimer. Ref.5
Subcellular location	Lysosome.
Post-translational modification	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.
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17
Sequence similarities	Belongs to the sulfatase family.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Polymorphism
Disease	Disease mutation Dwarfism Mucopolysaccharidosis
Domain	Signal
Ligand	Calcium Metal-binding
Molecular function	Hydrolase
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome keratan sulfate catabolic process Traceable author statement. Source: Reactome
Cellular_component	lysosomal lumen Traceable author statement. Source: Reactome
Molecular_function	N-acetylgalactosamine-4-sulfatase activity Traceable author statement PubMed 8325655. Source: ProtInc N-acetylgalactosamine-6-sulfatase activity Inferred from electronic annotation. Source: EC metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 26

26

Chain

27 – 522

496

N-acetylgalactosamine-6-sulfatase

PRO_0000033411

Regions

Region

27 – 379

353

Catalytic domain

Sites

Metal binding

39

1

Calcium

Metal binding

40

1

Calcium

Metal binding

79

1

Calcium; via 3-oxoalanine

Metal binding

288

1

Calcium

Metal binding

289

1

Calcium

Amino acid modifications

Modified residue

79

1

3-oxoalanine (Cys)

Glycosylation

204

1

N-linked (GlcNAc...) Ref.5

Glycosylation

423

1

N-linked (GlcNAc...) Ref.4 Ref.5

Disulfide bond

308 ↔ 419

Ref.5

Disulfide bond

489 ↔ 518

Ref.5

Disulfide bond

501 ↔ 507

Ref.5

Natural variations

Natural variant

15

1

L → M in MPS4A. Ref.17

VAR_024873

Natural variant

17 – 18

2

Missing in MPS4A.

VAR_024874

Natural variant

23

1

G → R in MPS4A. Ref.17

VAR_024875

Natural variant

36

1

L → P in MPS4A. Ref.17

VAR_024876

Natural variant

41

1

M → L in MPS4A. Ref.17

VAR_024877

Natural variant

42

1

G → E in MPS4A. Ref.17

VAR_024878

Natural variant

47

1

G → R in MPS4A; severe form.

VAR_007172

Natural variant

52 – 55

4

Missing in MPS4A.

VAR_024879

Natural variant

53

1

S → F in MPS4A. Ref.17

VAR_024880

Natural variant

60

1

D → N in MPS4A; mild form.

VAR_007173

Natural variant

61

1

R → W in MPS4A. Ref.17 Ref.18

VAR_024881

Natural variant

67

1

L → M Associated with S-409 in a MPS4A patient. Ref.17
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].

VAR_007174

Natural variant

69

1

F → V in MPS4A. Ref.17

VAR_024882

Natural variant

71 – 74

4

NFYS → T in MPS4A.

VAR_024883

Natural variant

77

1

P → R in MPS4A; severe form. Ref.9

VAR_007175

Natural variant

79

1

C → Y in MPS4A. Ref.17

VAR_024884

Natural variant

80

1

S → L in MPS4A; intermediate form.

VAR_007177

Natural variant

90

1

R → W in MPS4A; severe form. Ref.9

VAR_007178

Natural variant

94

1

R → C in MPS4A; mild/intermediate form. Ref.12

VAR_007179

Natural variant

94

1

R → G in MPS4A; mild/intermediate form.

VAR_007180

Natural variant

94

1

R → L in MPS4A. Ref.17

VAR_024885

Natural variant

96

1

G → C in MPS4A.

VAR_007181

Natural variant

96

1

G → V in MPS4A; severe form. Ref.9 Ref.15

VAR_007182

Natural variant

97

1

F → V in MPS4A; mild form. Ref.12

VAR_007183

Natural variant

107

1

A → T in MPS4A. Ref.17

VAR_024886

Natural variant

111

1

Q → R in MPS4A; intermediate form.

VAR_007184

Natural variant

113

1

I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. Ref.15

VAR_007185

Natural variant

116

1

G → S in MPS4A. Ref.17

VAR_024887

Natural variant

125

1

P → L in MPS4A; severe form.

VAR_007186

Natural variant

135

1

S → R in MPS4A; severe form. Ref.15

VAR_007187

Natural variant

138

1

V → A in MPS4A; mild/severe/intermediate form. Ref.11

VAR_007188

Natural variant

139

1

G → S in MPS4A; severe form.

VAR_007189

Natural variant

141

1

W → C in MPS4A. Ref.17

VAR_024888

Natural variant

141

1

W → R in MPS4A; severe form.

VAR_007190

Natural variant

150

1

H → Y in MPS4A. Ref.17

VAR_024889

Natural variant

151

1

P → L in MPS4A; severe form. Ref.9 Ref.11

VAR_007191

Natural variant

151

1

P → S in MPS4A; severe form. Ref.11

VAR_007192

Natural variant

155

1

G → E in MPS4A. Ref.17

VAR_024890

Natural variant

155

1

G → R in MPS4A; severe form.

VAR_007193

Natural variant

156

1

F → C in MPS4A; severe form. Ref.15

VAR_007194

Natural variant

156

1

F → S in MPS4A; mild form.

VAR_007195

Natural variant

162

1

S → F in MPS4A. Ref.17

VAR_024891

Natural variant

164

1

N → T in MPS4A. Ref.17

VAR_024892

Natural variant

166

1

H → Q in MPS4A; severe form.

VAR_007196

Natural variant

167

1

F → V in MPS4A. Ref.17

VAR_024893

Natural variant

168

1

G → R in MPS4A.

VAR_007197

Natural variant

171

1

D → A in MPS4A. Ref.17

VAR_024894

Natural variant

178

1

I → V. Ref.17

VAR_007198

Natural variant

179

1

P → H in MPS4A; severe form.

VAR_007199

Natural variant

179

1

P → L in MPS4A; severe form. Ref.15

VAR_007200

Natural variant

179

1

P → S in MPS4A. Ref.17

VAR_024895

Natural variant

185

1

E → G in MPS4A; severe form.

VAR_007201

Natural variant

200

1

T → M. Ref.17
Corresponds to variant rs7187889 [ dbSNP | Ensembl ].

VAR_007202

Natural variant

203

1

A → V in MPS4A. Ref.17

VAR_024896

Natural variant

204

1

N → K in MPS4A; mild form. Ref.6

VAR_007203

Natural variant

230

1

W → G in MPS4A; severe form. Ref.9

VAR_007204

Natural variant

231

1

A → G. Ref.17
Corresponds to variant rs34745339 [ dbSNP | Ensembl ].

VAR_007205

Natural variant

233

1

D → N in MPS4A. Ref.17

VAR_024897

Natural variant

239

1

V → F in MPS4A. Ref.17

VAR_024898

Natural variant

247

1

G → D in MPS4A.

VAR_007206

Natural variant

253

1

R → W in MPS4A. Ref.17

VAR_024899

Natural variant

257

1

A → T in MPS4A; severe form. Ref.15

VAR_007207

Natural variant

259

1

R → Q in MPS4A; mild form.

VAR_007208

Natural variant

260

1

E → D in MPS4A. Ref.17

VAR_024900

Natural variant

279 – 287

9

Missing in MPS4A; mild form.

VAR_007209

Natural variant

284

1

F → V in MPS4A; severe form. Ref.15

VAR_007210

Natural variant

285

1

Missing in MPS4A. Ref.17

VAR_024901

Natural variant

287

1

S → L in MPS4A; severe form.

VAR_007211

Natural variant

290

1

G → S in MPS4A; severe form.

VAR_007212

Natural variant

291

1

A → D in MPS4A; mild form.

VAR_007213

Natural variant

291

1

A → T in MPS4A; severe form. Ref.9

VAR_007214

Natural variant

295

1

S → F in MPS4A; mild form.

VAR_007215

Natural variant

301

1

G → C in MPS4A; severe form.

VAR_007216

Natural variant

307

1

L → P in MPS4A. Ref.17

VAR_024902

Natural variant

309

1

G → R in MPS4A; severe form.

VAR_007217

Natural variant

310

1

K → N in MPS4A. Ref.17

VAR_024903

Natural variant

312

1

T → S in MPS4A; mild/intermediate/severe form. Ref.15

VAR_007218

Natural variant

318

1

M → R in MPS4A; severe form.

VAR_007219

Natural variant

325

1

W → C in MPS4A. Ref.17

VAR_024904

Natural variant

325

1

Missing in MPS4A.

VAR_007220

Natural variant

340

1

G → D in MPS4A. Ref.17

VAR_024905

Natural variant

341

1

S → R in MPS4A. Ref.17

VAR_024906

Natural variant

343

1

M → R in MPS4A; severe form.

VAR_007221

Natural variant

344

1

D → E in MPS4A.

VAR_007222

Natural variant

344

1

D → N in MPS4A; severe form.

VAR_007223

Natural variant

345

1

L → P in MPS4A. Ref.17

VAR_024907

Natural variant

346

1

F → L in MPS4A; severe form.

VAR_007224

Natural variant

351

1

A → V in MPS4A; severe form.

VAR_007225

Natural variant

352

1

L → P in MPS4A. Ref.17

VAR_024908

Natural variant

357

1

P → L in MPS4A. Ref.17

VAR_024909

Natural variant

361

1

R → G in MPS4A.

VAR_007226

Natural variant

369

1

L → P in MPS4A. Ref.17

VAR_024910

Natural variant

376

1

R → Q in MPS4A; severe form. Ref.15

VAR_007227

Natural variant

380

1

R → S in MPS4A. Ref.17

VAR_024911

Natural variant

380

1

R → T in MPS4A. Ref.17

VAR_024912

Natural variant

386

1

R → C in MPS4A; severe form.

VAR_007228

Natural variant

386

1

R → H in MPS4A. Ref.17

VAR_024913

Natural variant

388

1

D → N in MPS4A. Ref.17

VAR_024914

Natural variant

391

1

M → V in MPS4A; severe form.

VAR_007229

Natural variant

392

1

A → V in MPS4A. Ref.17

VAR_024915

Natural variant

393

1

A → S. Ref.16 Ref.17
Corresponds to variant rs2303269 [ dbSNP | Ensembl ].

VAR_007230

Natural variant

395

1

L → P in MPS4A.

VAR_007231

Natural variant

395

1

L → V in MPS4A; severe form. Ref.15

VAR_007232

Natural variant

398

1

H → D in MPS4A. Ref.17

VAR_024916

Natural variant

401

1

H → Y in MPS4A. Ref.17

VAR_024917

Natural variant

403 – 404

2

Missing in MPS4A.

VAR_024918

Natural variant

407

1

N → H in MPS4A.

VAR_007233

Natural variant

409

1

W → S in MPS4A; associated with M-67 in a patient.

VAR_007234

Natural variant

450

1

E → V in MPS4A; severe form.

VAR_007235

Natural variant

452

1

F → I in MPS4A. Ref.17

VAR_024919

Natural variant

459

1

A → V. Ref.17

VAR_007236

Natural variant

470

1

S → P in MPS4A. Ref.17

VAR_024920

Natural variant

484

1

P → S in MPS4A. Ref.17

VAR_024921

Natural variant

487

1

N → S in MPS4A. Ref.10

VAR_007237

Natural variant

488

1

V → M. Ref.16 Ref.17

VAR_007238

Natural variant

494

1

M → V in MPS4A; severe form.

VAR_007239

Natural variant

510

1

P → T in a colorectal cancer sample; somatic mutation. Ref.18

VAR_036493

Secondary structure

1

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522

Helix Strand Turn

Details...

Beta strand

32 – 40

9

Helix

47 – 49

3

Helix

57 – 64

8

Beta strand

66 – 68

3

Beta strand

70 – 73

4

Beta strand

75 – 78

4

Helix

79 – 88

10

Helix

92 – 95

4

Helix

124 – 128

5

Helix

129 – 131

3

Beta strand

134 – 139

6

Helix

147 – 149

3

Helix

151 – 153

3

Beta strand

157 – 161

5

Beta strand

172 – 175

4

Beta strand

179 – 182

4

Beta strand

185 – 190

6

Turn

191 – 193

3

Turn

198 – 200

3

Helix

205 – 220

16

Turn

221 – 223

3

Beta strand

226 – 231

6

Beta strand

236 – 238

3

Helix

243 – 245

3

Helix

252 – 274

23

Helix

278 – 280

3

Beta strand

281 – 289

9

Turn

296 – 298

3

Beta strand

312 – 314

3

Helix

315 – 318

4

Beta strand

322 – 325

4

Turn

327 – 329

3

Helix

344 – 353

10

Beta strand

359 – 361

3

Helix

369 – 374

6

Beta strand

382 – 386

5

Beta strand

389 – 395

7

Beta strand

398 – 404

7

Helix

409 – 413

5

Turn

425 – 427

3

Beta strand

436 – 438

3

Beta strand

440 – 443

4

Turn

444 – 446

3

Helix

459 – 477

19

Beta strand

485 – 489

5

Helix

491 – 493

3

Beta strand

494 – 497

4

Helix

501 – 504

4

Sequences

	Sequence		Length	Mass (Da)
	P34059 [UniParc]. Last modified February 1, 1994. Version 1. Checksum: 1D086E528AAAE949	FASTA	522	58,026
	10 20 30 40 50 60 MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG EPSRETPNLD 70 80 90 100 110 120 RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT NAHARNAYTP QEIVGGIPDS 130 140 150 160 170 180 EQLLPELLKK AGYVSKIVGK WHLGHRPQFH PLKHGFDEWF GSPNCHFGPY DNKARPNIPV 190 200 210 220 230 240 YRDWEMVGRY YEEFPINLKT GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY 250 260 270 280 290 300 ASKPFLGTSQ RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG 310 320 330 340 350 360 GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL ALAGLTPPSD 370 380 390 400 410 420 RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA HFWTWTNSWE NFRQGIDFCP 430 440 450 460 470 480 GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE RFPLSFASAE YQEALSRITS VVQQHQEALV 490 500 510 520 PAQPQLNVCN WAVMNWAPPG CEKLGKCLTP PESIPKKCLW SH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase." Tomatsu S., Fukuda S., Masue M., Sukegawa K., Fukao T., Yamagishi A., Hori T., Iwata H., Ogawa T., Nakashima Y., Hanyu Y., Hashimoto T., Titani K., Oyama R., Suzuki M., Yagi K., Hayashi Y., Orii T. Biochem. Biophys. Res. Commun. 181:677-683(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], PARTIAL PROTEIN SEQUENCE. Tissue: Placenta.
[2]	"Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene." Morris C.P., Guo X.H., Apostolou S., Hopwood J.J., Scott H.S. Genomics 22:652-654(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas.
[4]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-423, MASS SPECTROMETRY. Tissue: Liver.
[5]	"The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A." Rivera-Colon Y., Schutsky E.K., Kita A.Z., Garman S.C. J. Mol. Biol. 423:736-751(2012) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 27-522, GLYCOSYLATION AT ASN-204 AND ASN-423, SUBUNIT, COFACTOR, CATALYTIC ACTIVITY, CALCIUM-BINDING SITES, DISULFIDE BONDS.
[6]	"Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases." Fukuda S., Tomatsu S., Masue M., Sukegawa K., Iwata H., Ogawa T., Nakashima Y., Hori T., Yamagishi A., Hanyu Y., Morooka K., Kiman T., Hashimoto T., Orii T. J. Clin. Invest. 90:1049-1053(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MPS4A LYS-204.
[7]	"Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene." Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G., Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T. Am. J. Hum. Genet. 57:556-563(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A.
[8]	"Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene." Ogawa T., Tomatsu S., Fukuda S., Yamagishi A., Maruf Rezvi G., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T. Hum. Mol. Genet. 4:341-349(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A.
[9]	"Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients." Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G., Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T. Hum. Mol. Genet. 4:741-743(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A ARG-77; TRP-90; VAL-96; LEU-151; GLY-230 AND THR-291.
[10]	"Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)." Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamada N., Isogai K., Kato Z., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T. Hum. Mutat. 6:195-196(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MPS4A SER-487.
[11]	"Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency." Tomatsu S., Fukuda S., Yamagishi A., Cooper A., Wraith J.E., Hori T., Kato Z., Yamada N., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T. Am. J. Hum. Genet. 58:950-962(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A ALA-138; SER-151 AND LEU-151.
[12]	"Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)." Cole D.E.C., Fukuda S., Gordon B.A., Rip J.W., Lecouteur A.N., Rupar C.A., Tomatsu S., Ogawa T., Sukegawa K., Orii T. Am. J. Med. Genet. 63:558-565(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A CYS-94 AND VAL-97.
[13]	"Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome." Bunge S., Kleijer W.J., Tylki-Szymanska A., Steglich C., Beck M., Tomatsu S., Fukuda S., Poorthuis B.J.H.M., Czartoryska B., Orii T., Gal A. Hum. Mutat. 10:223-232(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A.
[14]	"Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene." Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Ferreira P., di Natale P., Tortora P., Fujimoto A., Kato Z., Yamada N., Isogai K., Yamagishi A., Sukegawa K., Suzuki Y., Shimozawa N., Kondo N., Sly W.S., Orii T. Hum. Mutat. 10:368-375(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A.
[15]	"Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype." Yamada N., Fukuda S., Tomatsu S., Muller V., Hopwood J.J., Nelson J., Kato Z., Yamagishi A., Sukegawa K., Kondo N., Orii T. Hum. Mutat. 11:202-208(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A VAL-96; PHE-113; ARG-135; CYS-156; LEU-179; THR-257; VAL-284; SER-312; GLN-376 AND VAL-395.
[16]	"Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease." Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamagishi A., Kato Z., Yamada N., Isogai K., Sukegawa K., Suzuki Y., Shimozawa N., Kondo N., Orii T. Hum. Mutat. Suppl. 1:S42-S46(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-393 AND MET-488.
[17]	"Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)." Tomatsu S., Montano A.M., Nishioka T., Gutierrez M.A., Pena O.M., Tranda Firescu G.G., Lopez P., Yamaguchi S., Noguchi A., Orii T. Hum. Mutat. 26:500-512(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MPS4A MET-15; 17-LEU-SER-18 DEL; ARG-23; PRO-36; LEU-41; GLU-42; 52-PRO--GLU-55 DEL; PHE-53; TRP-61; VAL-69; 71-ASN--SER-74 DELINS THR; TYR-79; LEU-94; THR-107; SER-116; CYS-141; TYR-150; GLU-155; PHE-162; THR-164; VAL-167; ALA-171; SER-179; VAL-203; ASN-233; PHE-239; TRP-253; ASP-260; PHE-285 DEL; PRO-307; ASN-310; CYS-325; ASP-340; ARG-341; PRO-345; PRO-352; LEU-357; PRO-369; THR-380; SER-380; HIS-386; ASN-388; VAL-392; ASP-398; TYR-401; 403-TRP-THR-404 DEL; ILE-452; PRO-470 AND SER-484, VARIANTS MET-67; VAL-178; MET-200; GLY-231; SER-393; VAL-459 AND MET-488.
[18]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-61 AND THR-510.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

D17629 Genomic DNA. Translation: BAA04535.1.
U06088 , U06078, U06079, U06080, U06081, U06082, U06083, U06084, U06085, U06086, U06087 Genomic DNA. Translation: AAC51350.1.
BC050684 mRNA. Translation: AAH50684.2.
BC056151 mRNA. Translation: AAH56151.1.

IPI

IPI00029605.

PIR

KJHUG6. JQ1299.

RefSeq

NP_000503.1. NM_000512.4.

UniGene

Hs.271383.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
4FDI	X-ray	2.20	A/B	27-522	[»]
4FDJ	X-ray	2.81	A/B	27-522	[»]

ProteinModelPortal

P34059.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000268695.

PTM databases

PhosphoSite

P34059.

Polymorphism databases

DMDM

462148.

Proteomic databases

PaxDb

P34059.

PRIDE

P34059.

Protocols and materials databases

DNASU

2588.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000268695; ENSP00000268695; ENSG00000141012.

GeneID

2588.

KEGG

hsa:2588.

UCSC

uc002fly.4. human.

Organism-specific databases

CTD

2588.

GeneCards

GC16M088880.

H-InvDB

HIX0134371.

HGNC

HGNC:4122. GALNS.

HPA

CAB026404.

MIM

253000. phenotype.
612222. gene.

neXtProt

NX_P34059.

Orphanet

582. Mucopolysaccharidosis type 4.

PharmGKB

PA28535.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG3119.

HOGENOM

HOG000135352.

HOVERGEN

HBG004283.

InParanoid

P34059.

KO

K01132.

OMA

GAISHAF.

OrthoDB

EOG480HWH.

PhylomeDB

P34059.

Enzyme and pathway databases

BioCyc

MetaCyc:HS06790-MONOMER.

BRENDA

3.1.6.4. 2681.

Reactome

REACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpress

P34059.

Bgee

P34059.

CleanEx

HS_GALNS.

Genevestigator

P34059.

GermOnline

ENSG00000141012. Homo sapiens.

Family and domain databases

Gene3D

3.40.720.10. 1 hit.

InterPro

IPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]

Pfam

PF00884. Sulfatase. 1 hit.
[Graphical view]

SUPFAM

SSF53649. Alkaline_phosphatase_core. 1 hit.

PROSITE

PS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

Galns. human.

DrugBank

DB00070. Hyaluronidase.

GenomeRNAi

2588.

NextBio

10237.

SOURCE

Search...

Entry information

Entry name

GALNS_HUMAN

Accession

Primary (citable) accession number: P34059
Secondary accession number(s): Q86VK3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1994
Last sequence update:	February 1, 1994
Last modified:	May 1, 2013
This is version 128 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.