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P34059

- GALNS_HUMAN

UniProt

P34059 - GALNS_HUMAN

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Protein

N-acetylgalactosamine-6-sulfatase

Gene
GALNS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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.1 Publication

Cofactori

Binds 1 calcium ion per subunit.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi39 – 391Calcium
Metal bindingi40 – 401Calcium
Metal bindingi79 – 791Calcium; via 3-oxoalanine
Metal bindingi288 – 2881Calcium
Metal bindingi289 – 2891Calcium

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. N-acetylgalactosamine-4-sulfatase activity Source: ProtInc
  3. N-acetylgalactosamine-6-sulfatase activity Source: UniProtKB-EC
  4. sulfuric ester hydrolase activity Source: MGI

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glycosaminoglycan metabolic process Source: Reactome
  3. keratan sulfate catabolic process Source: Reactome
  4. keratan sulfate metabolic process Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06790-MONOMER.
BRENDAi3.1.6.4. 2681.
ReactomeiREACT_121313. Keratan sulfate degradation.

Names & Taxonomyi

Protein namesi
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 namesi
Name:GALNS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:4122. GALNS.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

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.11 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → M in MPS4A. 1 Publication
VAR_024873
Natural varianti17 – 182Missing in MPS4A.
VAR_024874
Natural varianti23 – 231G → R in MPS4A. 1 Publication
VAR_024875
Natural varianti36 – 361L → P in MPS4A. 1 Publication
VAR_024876
Natural varianti41 – 411M → L in MPS4A. 1 Publication
VAR_024877
Natural varianti42 – 421G → E in MPS4A. 1 Publication
VAR_024878
Natural varianti47 – 471G → R in MPS4A; severe form.
VAR_007172
Natural varianti52 – 554Missing in MPS4A.
VAR_024879
Natural varianti53 – 531S → F in MPS4A. 1 Publication
VAR_024880
Natural varianti60 – 601D → N in MPS4A; mild form.
VAR_007173
Natural varianti61 – 611R → W in MPS4A. 2 Publications
VAR_024881
Natural varianti67 – 671L → M Associated with S-409 in a MPS4A patient. 1 Publication
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].
VAR_007174
Natural varianti69 – 691F → V in MPS4A. 1 Publication
VAR_024882
Natural varianti71 – 744NFYS → T in MPS4A.
VAR_024883
Natural varianti77 – 771P → R in MPS4A; severe form. 1 Publication
VAR_007175
Natural varianti79 – 791C → Y in MPS4A. 1 Publication
VAR_024884
Natural varianti80 – 801S → L in MPS4A; intermediate form.
VAR_007177
Natural varianti90 – 901R → W in MPS4A; severe form. 1 Publication
VAR_007178
Natural varianti94 – 941R → C in MPS4A; mild/intermediate form. 1 Publication
VAR_007179
Natural varianti94 – 941R → G in MPS4A; mild/intermediate form.
VAR_007180
Natural varianti94 – 941R → L in MPS4A. 1 Publication
VAR_024885
Natural varianti96 – 961G → C in MPS4A.
VAR_007181
Natural varianti96 – 961G → V in MPS4A; severe form. 2 Publications
VAR_007182
Natural varianti97 – 971F → V in MPS4A; mild form. 1 Publication
VAR_007183
Natural varianti107 – 1071A → T in MPS4A. 1 Publication
VAR_024886
Natural varianti111 – 1111Q → R in MPS4A; intermediate form.
VAR_007184
Natural varianti113 – 1131I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 1 Publication
VAR_007185
Natural varianti116 – 1161G → S in MPS4A. 1 Publication
VAR_024887
Natural varianti125 – 1251P → L in MPS4A; severe form.
VAR_007186
Natural varianti135 – 1351S → R in MPS4A; severe form. 1 Publication
VAR_007187
Natural varianti138 – 1381V → A in MPS4A; mild/severe/intermediate form. 1 Publication
VAR_007188
Natural varianti139 – 1391G → S in MPS4A; severe form.
VAR_007189
Natural varianti141 – 1411W → C in MPS4A. 1 Publication
VAR_024888
Natural varianti141 – 1411W → R in MPS4A; severe form.
VAR_007190
Natural varianti150 – 1501H → Y in MPS4A. 1 Publication
VAR_024889
Natural varianti151 – 1511P → L in MPS4A; severe form. 2 Publications
VAR_007191
Natural varianti151 – 1511P → S in MPS4A; severe form. 1 Publication
VAR_007192
Natural varianti155 – 1551G → E in MPS4A. 1 Publication
VAR_024890
Natural varianti155 – 1551G → R in MPS4A; severe form.
VAR_007193
Natural varianti156 – 1561F → C in MPS4A; severe form. 1 Publication
VAR_007194
Natural varianti156 – 1561F → S in MPS4A; mild form.
VAR_007195
Natural varianti162 – 1621S → F in MPS4A. 1 Publication
VAR_024891
Natural varianti164 – 1641N → T in MPS4A. 1 Publication
VAR_024892
Natural varianti166 – 1661H → Q in MPS4A; severe form.
VAR_007196
Natural varianti167 – 1671F → V in MPS4A. 1 Publication
Corresponds to variant rs148565559 [ dbSNP | Ensembl ].
VAR_024893
Natural varianti168 – 1681G → R in MPS4A.
VAR_007197
Natural varianti171 – 1711D → A in MPS4A. 1 Publication
VAR_024894
Natural varianti179 – 1791P → H in MPS4A; severe form.
VAR_007199
Natural varianti179 – 1791P → L in MPS4A; severe form. 1 Publication
VAR_007200
Natural varianti179 – 1791P → S in MPS4A. 1 Publication
VAR_024895
Natural varianti185 – 1851E → G in MPS4A; severe form.
VAR_007201
Natural varianti203 – 2031A → V in MPS4A. 1 Publication
VAR_024896
Natural varianti204 – 2041N → K in MPS4A; mild form. 1 Publication
VAR_007203
Natural varianti230 – 2301W → G in MPS4A; severe form. 1 Publication
VAR_007204
Natural varianti233 – 2331D → N in MPS4A. 1 Publication
VAR_024897
Natural varianti239 – 2391V → F in MPS4A. 1 Publication
VAR_024898
Natural varianti247 – 2471G → D in MPS4A.
VAR_007206
Natural varianti253 – 2531R → W in MPS4A. 1 Publication
VAR_024899
Natural varianti257 – 2571A → T in MPS4A; severe form. 1 Publication
VAR_007207
Natural varianti259 – 2591R → Q in MPS4A; mild form.
VAR_007208
Natural varianti260 – 2601E → D in MPS4A. 1 Publication
VAR_024900
Natural varianti279 – 2879Missing in MPS4A; mild form.
VAR_007209
Natural varianti284 – 2841F → V in MPS4A; severe form. 1 Publication
VAR_007210
Natural varianti285 – 2851Missing in MPS4A. 1 Publication
VAR_024901
Natural varianti287 – 2871S → L in MPS4A; severe form.
VAR_007211
Natural varianti290 – 2901G → S in MPS4A; severe form.
VAR_007212
Natural varianti291 – 2911A → D in MPS4A; mild form.
VAR_007213
Natural varianti291 – 2911A → T in MPS4A; severe form. 1 Publication
VAR_007214
Natural varianti295 – 2951S → F in MPS4A; mild form.
VAR_007215
Natural varianti301 – 3011G → C in MPS4A; severe form.
Corresponds to variant rs118204443 [ dbSNP | Ensembl ].
VAR_007216
Natural varianti307 – 3071L → P in MPS4A. 1 Publication
VAR_024902
Natural varianti309 – 3091G → R in MPS4A; severe form.
VAR_007217
Natural varianti310 – 3101K → N in MPS4A. 1 Publication
VAR_024903
Natural varianti312 – 3121T → S in MPS4A; mild/intermediate/severe form. 1 Publication
VAR_007218
Natural varianti318 – 3181M → R in MPS4A; severe form.
VAR_007219
Natural varianti325 – 3251W → C in MPS4A. 1 Publication
VAR_024904
Natural varianti325 – 3251Missing in MPS4A.
VAR_007220
Natural varianti340 – 3401G → D in MPS4A. 1 Publication
VAR_024905
Natural varianti341 – 3411S → R in MPS4A. 1 Publication
VAR_024906
Natural varianti343 – 3431M → R in MPS4A; severe form.
VAR_007221
Natural varianti344 – 3441D → E in MPS4A.
VAR_007222
Natural varianti344 – 3441D → N in MPS4A; severe form.
VAR_007223
Natural varianti345 – 3451L → P in MPS4A. 1 Publication
VAR_024907
Natural varianti346 – 3461F → L in MPS4A; severe form.
VAR_007224
Natural varianti351 – 3511A → V in MPS4A; severe form.
VAR_007225
Natural varianti352 – 3521L → P in MPS4A. 1 Publication
VAR_024908
Natural varianti357 – 3571P → L in MPS4A. 1 Publication
VAR_024909
Natural varianti361 – 3611R → G in MPS4A.
VAR_007226
Natural varianti369 – 3691L → P in MPS4A. 1 Publication
VAR_024910
Natural varianti376 – 3761R → Q in MPS4A; severe form. 1 Publication
Corresponds to variant rs150734270 [ dbSNP | Ensembl ].
VAR_007227
Natural varianti380 – 3801R → S in MPS4A. 1 Publication
VAR_024911
Natural varianti380 – 3801R → T in MPS4A. 1 Publication
VAR_024912
Natural varianti386 – 3861R → C in MPS4A; severe form.
VAR_007228
Natural varianti386 – 3861R → H in MPS4A. 1 Publication
VAR_024913
Natural varianti388 – 3881D → N in MPS4A. 1 Publication
VAR_024914
Natural varianti391 – 3911M → V in MPS4A; severe form.
VAR_007229
Natural varianti392 – 3921A → V in MPS4A. 1 Publication
VAR_024915
Natural varianti395 – 3951L → P in MPS4A.
VAR_007231
Natural varianti395 – 3951L → V in MPS4A; severe form. 1 Publication
VAR_007232
Natural varianti398 – 3981H → D in MPS4A. 1 Publication
VAR_024916
Natural varianti401 – 4011H → Y in MPS4A. 1 Publication
VAR_024917
Natural varianti403 – 4042Missing in MPS4A.
VAR_024918
Natural varianti407 – 4071N → H in MPS4A.
VAR_007233
Natural varianti409 – 4091W → S in MPS4A; associated with M-67 in a patient.
VAR_007234
Natural varianti450 – 4501E → V in MPS4A; severe form.
VAR_007235
Natural varianti452 – 4521F → I in MPS4A. 1 Publication
VAR_024919
Natural varianti470 – 4701S → P in MPS4A. 1 Publication
VAR_024920
Natural varianti484 – 4841P → S in MPS4A. 1 Publication
VAR_024921
Natural varianti487 – 4871N → S in MPS4A. 1 Publication
VAR_007237
Natural varianti494 – 4941M → V in MPS4A; severe form.
VAR_007239

Keywords - Diseasei

Disease mutation, Dwarfism, Mucopolysaccharidosis

Organism-specific databases

MIMi253000. phenotype.
Orphaneti309297. Mucopolysaccharidosis type 4A.
PharmGKBiPA28535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Add
BLAST
Chaini27 – 522496N-acetylgalactosamine-6-sulfatasePRO_0000033411Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei79 – 7913-oxoalanine (Cys)
Glycosylationi204 – 2041N-linked (GlcNAc...)1 Publication
Disulfide bondi308 ↔ 4191 Publication
Glycosylationi423 – 4231N-linked (GlcNAc...)2 Publications
Disulfide bondi489 ↔ 5181 Publication
Disulfide bondi501 ↔ 5071 Publication

Post-translational modificationi

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.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP34059.
PaxDbiP34059.
PRIDEiP34059.

PTM databases

PhosphoSiteiP34059.

Expressioni

Gene expression databases

ArrayExpressiP34059.
BgeeiP34059.
CleanExiHS_GALNS.
GenevestigatoriP34059.

Organism-specific databases

HPAiCAB026404.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108860. 1 interaction.
STRINGi9606.ENSP00000268695.

Structurei

Secondary structure

1
522
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi32 – 409
Helixi47 – 493
Helixi57 – 648
Beta strandi66 – 683
Beta strandi70 – 734
Beta strandi75 – 784
Helixi79 – 8810
Helixi92 – 954
Helixi124 – 1285
Helixi129 – 1313
Beta strandi134 – 1396
Helixi147 – 1493
Helixi151 – 1533
Beta strandi157 – 1615
Beta strandi172 – 1754
Beta strandi179 – 1824
Beta strandi185 – 1906
Turni191 – 1933
Turni198 – 2003
Helixi205 – 22016
Turni221 – 2233
Beta strandi226 – 2316
Beta strandi236 – 2383
Helixi243 – 2453
Helixi252 – 27423
Helixi278 – 2803
Beta strandi281 – 2899
Turni296 – 2983
Beta strandi312 – 3143
Helixi315 – 3184
Beta strandi322 – 3254
Turni327 – 3293
Helixi344 – 35310
Beta strandi359 – 3613
Helixi369 – 3746
Beta strandi382 – 3865
Beta strandi389 – 3957
Beta strandi398 – 4047
Helixi409 – 4135
Turni425 – 4273
Beta strandi436 – 4383
Beta strandi440 – 4434
Turni444 – 4463
Helixi459 – 47719
Beta strandi485 – 4895
Helixi491 – 4933
Beta strandi494 – 4974
Helixi501 – 5044

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4FDIX-ray2.20A/B27-522[»]
4FDJX-ray2.81A/B27-522[»]
ProteinModelPortaliP34059.
SMRiP34059. Positions 29-522.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni27 – 379353Catalytic domainAdd
BLAST

Sequence similaritiesi

Belongs to the sulfatase family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3119.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP34059.
KOiK01132.
OMAiLTQVYLQ.
OrthoDBiEOG7QZG9J.
PhylomeDBiP34059.
TreeFamiTF314186.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P34059-1 [UniParc]FASTAAdd to Basket

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MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG    50
EPSRETPNLD RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT 100
NAHARNAYTP QEIVGGIPDS EQLLPELLKK AGYVSKIVGK WHLGHRPQFH 150
PLKHGFDEWF GSPNCHFGPY DNKARPNIPV YRDWEMVGRY YEEFPINLKT 200
GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY ASKPFLGTSQ 250
RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG 300
GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL 350
ALAGLTPPSD RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA 400
HFWTWTNSWE NFRQGIDFCP GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE 450
RFPLSFASAE YQEALSRITS VVQQHQEALV PAQPQLNVCN WAVMNWAPPG 500
CEKLGKCLTP PESIPKKCLW SH 522
Length:522
Mass (Da):58,026
Last modified:February 1, 1994 - v1
Checksum:i1D086E528AAAE949
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → M in MPS4A. 1 Publication
VAR_024873
Natural varianti17 – 182Missing in MPS4A.
VAR_024874
Natural varianti23 – 231G → R in MPS4A. 1 Publication
VAR_024875
Natural varianti36 – 361L → P in MPS4A. 1 Publication
VAR_024876
Natural varianti41 – 411M → L in MPS4A. 1 Publication
VAR_024877
Natural varianti42 – 421G → E in MPS4A. 1 Publication
VAR_024878
Natural varianti47 – 471G → R in MPS4A; severe form.
VAR_007172
Natural varianti52 – 554Missing in MPS4A.
VAR_024879
Natural varianti53 – 531S → F in MPS4A. 1 Publication
VAR_024880
Natural varianti60 – 601D → N in MPS4A; mild form.
VAR_007173
Natural varianti61 – 611R → W in MPS4A. 2 Publications
VAR_024881
Natural varianti67 – 671L → M Associated with S-409 in a MPS4A patient. 1 Publication
Corresponds to variant rs11862754 [ dbSNP | Ensembl ].
VAR_007174
Natural varianti69 – 691F → V in MPS4A. 1 Publication
VAR_024882
Natural varianti71 – 744NFYS → T in MPS4A.
VAR_024883
Natural varianti77 – 771P → R in MPS4A; severe form. 1 Publication
VAR_007175
Natural varianti79 – 791C → Y in MPS4A. 1 Publication
VAR_024884
Natural varianti80 – 801S → L in MPS4A; intermediate form.
VAR_007177
Natural varianti90 – 901R → W in MPS4A; severe form. 1 Publication
VAR_007178
Natural varianti94 – 941R → C in MPS4A; mild/intermediate form. 1 Publication
VAR_007179
Natural varianti94 – 941R → G in MPS4A; mild/intermediate form.
VAR_007180
Natural varianti94 – 941R → L in MPS4A. 1 Publication
VAR_024885
Natural varianti96 – 961G → C in MPS4A.
VAR_007181
Natural varianti96 – 961G → V in MPS4A; severe form. 2 Publications
VAR_007182
Natural varianti97 – 971F → V in MPS4A; mild form. 1 Publication
VAR_007183
Natural varianti107 – 1071A → T in MPS4A. 1 Publication
VAR_024886
Natural varianti111 – 1111Q → R in MPS4A; intermediate form.
VAR_007184
Natural varianti113 – 1131I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 1 Publication
VAR_007185
Natural varianti116 – 1161G → S in MPS4A. 1 Publication
VAR_024887
Natural varianti125 – 1251P → L in MPS4A; severe form.
VAR_007186
Natural varianti135 – 1351S → R in MPS4A; severe form. 1 Publication
VAR_007187
Natural varianti138 – 1381V → A in MPS4A; mild/severe/intermediate form. 1 Publication
VAR_007188
Natural varianti139 – 1391G → S in MPS4A; severe form.
VAR_007189
Natural varianti141 – 1411W → C in MPS4A. 1 Publication
VAR_024888
Natural varianti141 – 1411W → R in MPS4A; severe form.
VAR_007190
Natural varianti150 – 1501H → Y in MPS4A. 1 Publication
VAR_024889
Natural varianti151 – 1511P → L in MPS4A; severe form. 2 Publications
VAR_007191
Natural varianti151 – 1511P → S in MPS4A; severe form. 1 Publication
VAR_007192
Natural varianti155 – 1551G → E in MPS4A. 1 Publication
VAR_024890
Natural varianti155 – 1551G → R in MPS4A; severe form.
VAR_007193
Natural varianti156 – 1561F → C in MPS4A; severe form. 1 Publication
VAR_007194
Natural varianti156 – 1561F → S in MPS4A; mild form.
VAR_007195
Natural varianti162 – 1621S → F in MPS4A. 1 Publication
VAR_024891
Natural varianti164 – 1641N → T in MPS4A. 1 Publication
VAR_024892
Natural varianti166 – 1661H → Q in MPS4A; severe form.
VAR_007196
Natural varianti167 – 1671F → V in MPS4A. 1 Publication
Corresponds to variant rs148565559 [ dbSNP | Ensembl ].
VAR_024893
Natural varianti168 – 1681G → R in MPS4A.
VAR_007197
Natural varianti171 – 1711D → A in MPS4A. 1 Publication
VAR_024894
Natural varianti178 – 1781I → V.1 Publication
VAR_007198
Natural varianti179 – 1791P → H in MPS4A; severe form.
VAR_007199
Natural varianti179 – 1791P → L in MPS4A; severe form. 1 Publication
VAR_007200
Natural varianti179 – 1791P → S in MPS4A. 1 Publication
VAR_024895
Natural varianti185 – 1851E → G in MPS4A; severe form.
VAR_007201
Natural varianti200 – 2001T → M.1 Publication
Corresponds to variant rs7187889 [ dbSNP | Ensembl ].
VAR_007202
Natural varianti203 – 2031A → V in MPS4A. 1 Publication
VAR_024896
Natural varianti204 – 2041N → K in MPS4A; mild form. 1 Publication
VAR_007203
Natural varianti230 – 2301W → G in MPS4A; severe form. 1 Publication
VAR_007204
Natural varianti231 – 2311A → G.1 Publication
Corresponds to variant rs34745339 [ dbSNP | Ensembl ].
VAR_007205
Natural varianti233 – 2331D → N in MPS4A. 1 Publication
VAR_024897
Natural varianti239 – 2391V → F in MPS4A. 1 Publication
VAR_024898
Natural varianti247 – 2471G → D in MPS4A.
VAR_007206
Natural varianti253 – 2531R → W in MPS4A. 1 Publication
VAR_024899
Natural varianti257 – 2571A → T in MPS4A; severe form. 1 Publication
VAR_007207
Natural varianti259 – 2591R → Q in MPS4A; mild form.
VAR_007208
Natural varianti260 – 2601E → D in MPS4A. 1 Publication
VAR_024900
Natural varianti279 – 2879Missing in MPS4A; mild form.
VAR_007209
Natural varianti284 – 2841F → V in MPS4A; severe form. 1 Publication
VAR_007210
Natural varianti285 – 2851Missing in MPS4A. 1 Publication
VAR_024901
Natural varianti287 – 2871S → L in MPS4A; severe form.
VAR_007211
Natural varianti290 – 2901G → S in MPS4A; severe form.
VAR_007212
Natural varianti291 – 2911A → D in MPS4A; mild form.
VAR_007213
Natural varianti291 – 2911A → T in MPS4A; severe form. 1 Publication
VAR_007214
Natural varianti295 – 2951S → F in MPS4A; mild form.
VAR_007215
Natural varianti301 – 3011G → C in MPS4A; severe form.
Corresponds to variant rs118204443 [ dbSNP | Ensembl ].
VAR_007216
Natural varianti307 – 3071L → P in MPS4A. 1 Publication
VAR_024902
Natural varianti309 – 3091G → R in MPS4A; severe form.
VAR_007217
Natural varianti310 – 3101K → N in MPS4A. 1 Publication
VAR_024903
Natural varianti312 – 3121T → S in MPS4A; mild/intermediate/severe form. 1 Publication
VAR_007218
Natural varianti318 – 3181M → R in MPS4A; severe form.
VAR_007219
Natural varianti325 – 3251W → C in MPS4A. 1 Publication
VAR_024904
Natural varianti325 – 3251Missing in MPS4A.
VAR_007220
Natural varianti340 – 3401G → D in MPS4A. 1 Publication
VAR_024905
Natural varianti341 – 3411S → R in MPS4A. 1 Publication
VAR_024906
Natural varianti343 – 3431M → R in MPS4A; severe form.
VAR_007221
Natural varianti344 – 3441D → E in MPS4A.
VAR_007222
Natural varianti344 – 3441D → N in MPS4A; severe form.
VAR_007223
Natural varianti345 – 3451L → P in MPS4A. 1 Publication
VAR_024907
Natural varianti346 – 3461F → L in MPS4A; severe form.
VAR_007224
Natural varianti351 – 3511A → V in MPS4A; severe form.
VAR_007225
Natural varianti352 – 3521L → P in MPS4A. 1 Publication
VAR_024908
Natural varianti357 – 3571P → L in MPS4A. 1 Publication
VAR_024909
Natural varianti361 – 3611R → G in MPS4A.
VAR_007226
Natural varianti369 – 3691L → P in MPS4A. 1 Publication
VAR_024910
Natural varianti376 – 3761R → Q in MPS4A; severe form. 1 Publication
Corresponds to variant rs150734270 [ dbSNP | Ensembl ].
VAR_007227
Natural varianti380 – 3801R → S in MPS4A. 1 Publication
VAR_024911
Natural varianti380 – 3801R → T in MPS4A. 1 Publication
VAR_024912
Natural varianti386 – 3861R → C in MPS4A; severe form.
VAR_007228
Natural varianti386 – 3861R → H in MPS4A. 1 Publication
VAR_024913
Natural varianti388 – 3881D → N in MPS4A. 1 Publication
VAR_024914
Natural varianti391 – 3911M → V in MPS4A; severe form.
VAR_007229
Natural varianti392 – 3921A → V in MPS4A. 1 Publication
VAR_024915
Natural varianti393 – 3931A → S.2 Publications
Corresponds to variant rs2303269 [ dbSNP | Ensembl ].
VAR_007230
Natural varianti395 – 3951L → P in MPS4A.
VAR_007231
Natural varianti395 – 3951L → V in MPS4A; severe form. 1 Publication
VAR_007232
Natural varianti398 – 3981H → D in MPS4A. 1 Publication
VAR_024916
Natural varianti401 – 4011H → Y in MPS4A. 1 Publication
VAR_024917
Natural varianti403 – 4042Missing in MPS4A.
VAR_024918
Natural varianti407 – 4071N → H in MPS4A.
VAR_007233
Natural varianti409 – 4091W → S in MPS4A; associated with M-67 in a patient.
VAR_007234
Natural varianti450 – 4501E → V in MPS4A; severe form.
VAR_007235
Natural varianti452 – 4521F → I in MPS4A. 1 Publication
VAR_024919
Natural varianti459 – 4591A → V.1 Publication
Corresponds to variant rs114703967 [ dbSNP | Ensembl ].
VAR_007236
Natural varianti470 – 4701S → P in MPS4A. 1 Publication
VAR_024920
Natural varianti484 – 4841P → S in MPS4A. 1 Publication
VAR_024921
Natural varianti487 – 4871N → S in MPS4A. 1 Publication
VAR_007237
Natural varianti488 – 4881V → M.2 Publications
Corresponds to variant rs78127134 [ dbSNP | Ensembl ].
VAR_007238
Natural varianti494 – 4941M → V in MPS4A; severe form.
VAR_007239
Natural varianti510 – 5101P → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036493

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS10970.1.
PIRiJQ1299. KJHUG6.
RefSeqiNP_000503.1. NM_000512.4.
UniGeneiHs.271383.

Genome annotation databases

EnsembliENST00000268695; ENSP00000268695; ENSG00000141012.
GeneIDi2588.
KEGGihsa:2588.
UCSCiuc002fly.4. human.

Polymorphism databases

DMDMi462148.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS10970.1.
PIRi JQ1299. KJHUG6.
RefSeqi NP_000503.1. NM_000512.4.
UniGenei Hs.271383.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali P34059.
SMRi P34059. Positions 29-522.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108860. 1 interaction.
STRINGi 9606.ENSP00000268695.

Chemistry

DrugBanki DB00070. Hyaluronidase.

PTM databases

PhosphoSitei P34059.

Polymorphism databases

DMDMi 462148.

Proteomic databases

MaxQBi P34059.
PaxDbi P34059.
PRIDEi P34059.

Protocols and materials databases

DNASUi 2588.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268695 ; ENSP00000268695 ; ENSG00000141012 .
GeneIDi 2588.
KEGGi hsa:2588.
UCSCi uc002fly.4. human.

Organism-specific databases

CTDi 2588.
GeneCardsi GC16M088880.
GeneReviewsi GALNS.
H-InvDB HIX0134371.
HGNCi HGNC:4122. GALNS.
HPAi CAB026404.
MIMi 253000. phenotype.
612222. gene.
neXtProti NX_P34059.
Orphaneti 309297. Mucopolysaccharidosis type 4A.
PharmGKBi PA28535.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3119.
HOGENOMi HOG000135352.
HOVERGENi HBG004283.
InParanoidi P34059.
KOi K01132.
OMAi LTQVYLQ.
OrthoDBi EOG7QZG9J.
PhylomeDBi P34059.
TreeFami TF314186.

Enzyme and pathway databases

BioCyci MetaCyc:HS06790-MONOMER.
BRENDAi 3.1.6.4. 2681.
Reactomei REACT_121313. Keratan sulfate degradation.

Miscellaneous databases

ChiTaRSi Galns. human.
GeneWikii Galactosamine-6_sulfatase.
GenomeRNAii 2588.
NextBioi 10237.
PROi P34059.
SOURCEi Search...

Gene expression databases

ArrayExpressi P34059.
Bgeei P34059.
CleanExi HS_GALNS.
Genevestigatori P34059.

Family and domain databases

Gene3Di 3.40.720.10. 1 hit.
InterProi IPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view ]
Pfami PF00884. Sulfatase. 1 hit.
[Graphical view ]
SUPFAMi SSF53649. SSF53649. 1 hit.
PROSITEi PS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-61 AND THR-510.

Entry informationi

Entry nameiGALNS_HUMAN
AccessioniPrimary (citable) accession number: P34059
Secondary accession number(s): Q86VK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: September 3, 2014
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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