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P34059

- GALNS_HUMAN

UniProt

P34059 - GALNS_HUMAN

Protein

N-acetylgalactosamine-6-sulfatase

Gene

GALNS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 1 (01 Feb 1994)
      Previous versions | rss
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    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

    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

    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.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

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

    Sequence similaritiesi

    Belongs to the sulfatase family.Curated

    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

    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: October 1, 2014
    This is version 143 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