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P34059 (GALNS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626
Chain27 – 522496N-acetylgalactosamine-6-sulfatase
PRO_0000033411

Regions

Region27 – 379353Catalytic domain

Sites

Metal binding391Calcium
Metal binding401Calcium
Metal binding791Calcium; via 3-oxoalanine
Metal binding2881Calcium
Metal binding2891Calcium

Amino acid modifications

Modified residue7913-oxoalanine (Cys)
Glycosylation2041N-linked (GlcNAc...) Ref.5
Glycosylation4231N-linked (GlcNAc...) Ref.4 Ref.5
Disulfide bond308 ↔ 419 Ref.5
Disulfide bond489 ↔ 518 Ref.5
Disulfide bond501 ↔ 507 Ref.5

Natural variations

Natural variant151L → M in MPS4A. Ref.17
VAR_024873
Natural variant17 – 182Missing in MPS4A.
VAR_024874
Natural variant231G → R in MPS4A. Ref.17
VAR_024875
Natural variant361L → P in MPS4A. Ref.17
VAR_024876
Natural variant411M → L in MPS4A. Ref.17
VAR_024877
Natural variant421G → E in MPS4A. Ref.17
VAR_024878
Natural variant471G → R in MPS4A; severe form.
VAR_007172
Natural variant52 – 554Missing in MPS4A.
VAR_024879
Natural variant531S → F in MPS4A. Ref.17
VAR_024880
Natural variant601D → N in MPS4A; mild form.
VAR_007173
Natural variant611R → W in MPS4A. Ref.17 Ref.18
VAR_024881
Natural variant671L → M Associated with S-409 in a MPS4A patient. Ref.17
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].
VAR_007174
Natural variant691F → V in MPS4A. Ref.17
VAR_024882
Natural variant71 – 744NFYS → T in MPS4A.
VAR_024883
Natural variant771P → R in MPS4A; severe form. Ref.9
VAR_007175
Natural variant791C → Y in MPS4A. Ref.17
VAR_024884
Natural variant801S → L in MPS4A; intermediate form.
VAR_007177
Natural variant901R → W in MPS4A; severe form. Ref.9
VAR_007178
Natural variant941R → C in MPS4A; mild/intermediate form. Ref.12
VAR_007179
Natural variant941R → G in MPS4A; mild/intermediate form.
VAR_007180
Natural variant941R → L in MPS4A. Ref.17
VAR_024885
Natural variant961G → C in MPS4A.
VAR_007181
Natural variant961G → V in MPS4A; severe form. Ref.9 Ref.15
VAR_007182
Natural variant971F → V in MPS4A; mild form. Ref.12
VAR_007183
Natural variant1071A → T in MPS4A. Ref.17
VAR_024886
Natural variant1111Q → R in MPS4A; intermediate form.
VAR_007184
Natural variant1131I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. Ref.15
VAR_007185
Natural variant1161G → S in MPS4A. Ref.17
VAR_024887
Natural variant1251P → L in MPS4A; severe form.
VAR_007186
Natural variant1351S → R in MPS4A; severe form. Ref.15
VAR_007187
Natural variant1381V → A in MPS4A; mild/severe/intermediate form. Ref.11
VAR_007188
Natural variant1391G → S in MPS4A; severe form.
VAR_007189
Natural variant1411W → C in MPS4A. Ref.17
VAR_024888
Natural variant1411W → R in MPS4A; severe form.
VAR_007190
Natural variant1501H → Y in MPS4A. Ref.17
VAR_024889
Natural variant1511P → L in MPS4A; severe form. Ref.9 Ref.11
VAR_007191
Natural variant1511P → S in MPS4A; severe form. Ref.11
VAR_007192
Natural variant1551G → E in MPS4A. Ref.17
VAR_024890
Natural variant1551G → R in MPS4A; severe form.
VAR_007193
Natural variant1561F → C in MPS4A; severe form. Ref.15
VAR_007194
Natural variant1561F → S in MPS4A; mild form.
VAR_007195
Natural variant1621S → F in MPS4A. Ref.17
VAR_024891
Natural variant1641N → T in MPS4A. Ref.17
VAR_024892
Natural variant1661H → Q in MPS4A; severe form.
VAR_007196
Natural variant1671F → V in MPS4A. Ref.17
Corresponds to variant rs148565559 [ dbSNP | Ensembl ].
VAR_024893
Natural variant1681G → R in MPS4A.
VAR_007197
Natural variant1711D → A in MPS4A. Ref.17
VAR_024894
Natural variant1781I → V. Ref.17
VAR_007198
Natural variant1791P → H in MPS4A; severe form.
VAR_007199
Natural variant1791P → L in MPS4A; severe form. Ref.15
VAR_007200
Natural variant1791P → S in MPS4A. Ref.17
VAR_024895
Natural variant1851E → G in MPS4A; severe form.
VAR_007201
Natural variant2001T → M. Ref.17
Corresponds to variant rs7187889 [ dbSNP | Ensembl ].
VAR_007202
Natural variant2031A → V in MPS4A. Ref.17
VAR_024896
Natural variant2041N → K in MPS4A; mild form. Ref.6
VAR_007203
Natural variant2301W → G in MPS4A; severe form. Ref.9
VAR_007204
Natural variant2311A → G. Ref.17
Corresponds to variant rs34745339 [ dbSNP | Ensembl ].
VAR_007205
Natural variant2331D → N in MPS4A. Ref.17
VAR_024897
Natural variant2391V → F in MPS4A. Ref.17
VAR_024898
Natural variant2471G → D in MPS4A.
VAR_007206
Natural variant2531R → W in MPS4A. Ref.17
VAR_024899
Natural variant2571A → T in MPS4A; severe form. Ref.15
VAR_007207
Natural variant2591R → Q in MPS4A; mild form.
VAR_007208
Natural variant2601E → D in MPS4A. Ref.17
VAR_024900
Natural variant279 – 2879Missing in MPS4A; mild form.
VAR_007209
Natural variant2841F → V in MPS4A; severe form. Ref.15
VAR_007210
Natural variant2851Missing in MPS4A. Ref.17
VAR_024901
Natural variant2871S → L in MPS4A; severe form.
VAR_007211
Natural variant2901G → S in MPS4A; severe form.
VAR_007212
Natural variant2911A → D in MPS4A; mild form.
VAR_007213
Natural variant2911A → T in MPS4A; severe form. Ref.9
VAR_007214
Natural variant2951S → F in MPS4A; mild form.
VAR_007215
Natural variant3011G → C in MPS4A; severe form.
Corresponds to variant rs118204443 [ dbSNP | Ensembl ].
VAR_007216
Natural variant3071L → P in MPS4A. Ref.17
VAR_024902
Natural variant3091G → R in MPS4A; severe form.
VAR_007217
Natural variant3101K → N in MPS4A. Ref.17
VAR_024903
Natural variant3121T → S in MPS4A; mild/intermediate/severe form. Ref.15
VAR_007218
Natural variant3181M → R in MPS4A; severe form.
VAR_007219
Natural variant3251W → C in MPS4A. Ref.17
VAR_024904
Natural variant3251Missing in MPS4A.
VAR_007220
Natural variant3401G → D in MPS4A. Ref.17
VAR_024905
Natural variant3411S → R in MPS4A. Ref.17
VAR_024906
Natural variant3431M → R in MPS4A; severe form.
VAR_007221
Natural variant3441D → E in MPS4A.
VAR_007222
Natural variant3441D → N in MPS4A; severe form.
VAR_007223
Natural variant3451L → P in MPS4A. Ref.17
VAR_024907
Natural variant3461F → L in MPS4A; severe form.
VAR_007224
Natural variant3511A → V in MPS4A; severe form.
VAR_007225
Natural variant3521L → P in MPS4A. Ref.17
VAR_024908
Natural variant3571P → L in MPS4A. Ref.17
VAR_024909
Natural variant3611R → G in MPS4A.
VAR_007226
Natural variant3691L → P in MPS4A. Ref.17
VAR_024910
Natural variant3761R → Q in MPS4A; severe form. Ref.15
Corresponds to variant rs150734270 [ dbSNP | Ensembl ].
VAR_007227
Natural variant3801R → S in MPS4A. Ref.17
VAR_024911
Natural variant3801R → T in MPS4A. Ref.17
VAR_024912
Natural variant3861R → C in MPS4A; severe form.
VAR_007228
Natural variant3861R → H in MPS4A. Ref.17
VAR_024913
Natural variant3881D → N in MPS4A. Ref.17
VAR_024914
Natural variant3911M → V in MPS4A; severe form.
VAR_007229
Natural variant3921A → V in MPS4A. Ref.17
VAR_024915
Natural variant3931A → S. Ref.16 Ref.17
Corresponds to variant rs2303269 [ dbSNP | Ensembl ].
VAR_007230
Natural variant3951L → P in MPS4A.
VAR_007231
Natural variant3951L → V in MPS4A; severe form. Ref.15
VAR_007232
Natural variant3981H → D in MPS4A. Ref.17
VAR_024916
Natural variant4011H → Y in MPS4A. Ref.17
VAR_024917
Natural variant403 – 4042Missing in MPS4A.
VAR_024918
Natural variant4071N → H in MPS4A.
VAR_007233
Natural variant4091W → S in MPS4A; associated with M-67 in a patient.
VAR_007234
Natural variant4501E → V in MPS4A; severe form.
VAR_007235
Natural variant4521F → I in MPS4A. Ref.17
VAR_024919
Natural variant4591A → V. Ref.17
Corresponds to variant rs114703967 [ dbSNP | Ensembl ].
VAR_007236
Natural variant4701S → P in MPS4A. Ref.17
VAR_024920
Natural variant4841P → S in MPS4A. Ref.17
VAR_024921
Natural variant4871N → S in MPS4A. Ref.10
VAR_007237
Natural variant4881V → M. Ref.16 Ref.17
Corresponds to variant rs78127134 [ dbSNP | Ensembl ].
VAR_007238
Natural variant4941M → V in MPS4A; severe form.
VAR_007239
Natural variant5101P → T in a colorectal cancer sample; somatic mutation. Ref.18
VAR_036493

Secondary structure

......................................................................................... 522
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P34059 [UniParc].

Last modified February 1, 1994. Version 1.
Checksum: 1D086E528AAAE949

FASTA52258,026
        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 

« Hide

References

« Hide '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.
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. expand/collapse author list , 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

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D17629 Genomic DNA. Translation: BAA04535.1.
U06088 expand/collapse EMBL AC list , 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.
PIRKJHUG6. JQ1299.
RefSeqNP_000503.1. NM_000512.4.
UniGeneHs.271383.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4FDIX-ray2.20A/B27-522[»]
4FDJX-ray2.81A/B27-522[»]
ProteinModelPortalP34059.
SMRP34059. Positions 29-522.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108860. 1 interaction.
STRING9606.ENSP00000268695.

Chemistry

DrugBankDB00070. Hyaluronidase.

PTM databases

PhosphoSiteP34059.

Polymorphism databases

DMDM462148.

Proteomic databases

PaxDbP34059.
PRIDEP34059.

Protocols and materials databases

DNASU2588.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268695; ENSP00000268695; ENSG00000141012.
GeneID2588.
KEGGhsa:2588.
UCSCuc002fly.4. human.

Organism-specific databases

CTD2588.
GeneCardsGC16M088880.
H-InvDBHIX0134371.
HGNCHGNC:4122. GALNS.
HPACAB026404.
MIM253000. phenotype.
612222. gene.
neXtProtNX_P34059.
Orphanet309297. Mucopolysaccharidosis type 4A.
PharmGKBPA28535.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3119.
HOGENOMHOG000135352.
HOVERGENHBG004283.
InParanoidP34059.
KOK01132.
OMASFYSANP.
OrthoDBEOG7QZG9J.
PhylomeDBP34059.
TreeFamTF314186.

Enzyme and pathway databases

BioCycMetaCyc:HS06790-MONOMER.
BRENDA3.1.6.4. 2681.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressP34059.
BgeeP34059.
CleanExHS_GALNS.
GenevestigatorP34059.

Family and domain databases

Gene3D3.40.720.10. 1 hit.
InterProIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]
PfamPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMSSF53649. SSF53649. 1 hit.
PROSITEPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGalns. human.
GeneWikiGalactosamine-6_sulfatase.
GenomeRNAi2588.
NextBio10237.
PROP34059.
SOURCESearch...

Entry information

Entry nameGALNS_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM