Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Arylsulfatase A  

UniProtKB / Swiss-Prot ID :  ARSA_HUMAN

Gene Name (Synonyms) : 
ARSA  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Lysosome. 

Protein Function :  Hydrolyzes cerebroside sulfate. 

Protein Sequence MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCT...
Predicted Secondary Structure CCHHHHHHHHHHCCCCCCCCCCEEEEEEECCCCCCCCCCCCCCCCCHHHHHHHHCCCEEECCEECCCCCH...
Protein Variant
LocationDescription
18A -> D (in MLD; enzyme activity reducedto 5% of wild-type enzyme;
29D -> N (in MLD; infantile-onset; causes asevere reduction of enzyme activity;
30D -> H (in MLD; enzyme activity reducedto 2.4% of wild-type enzyme;
32G -> S (in MLD; late-infantile form;dbSNP:rs199476350).
52L -> P (in MLD; loss of enzymaticactivity; dbSNP:rs199476357).
68L -> P (in MLD; late-infantile form;dbSNP:rs199476351).
76L -> P (in dbSNP:rs199476362). VAR_007243
82P -> L (in MLD; late-infantile-onset;dbSNP:rs6151411).
84R -> Q (in MLD; mild; dbSNP:rs74315458). VAR_007245
84R -> W (in MLD; juvenile form;dbSNP:rs199476352).
86G -> D (in MLD; severe; no enzymeresidual activity; leads to a decreased
94P -> A (in MLD; adult form;dbSNP:rs199476353).
95S -> N (in MLD; dbSNP:rs199476363). VAR_007247
96S -> F (in MLD; severe;dbSNP:rs74315456).
96S -> L (in MLD; severe; no enzymeresidual activity; dbSNP:rs199476371).
99G -> D (in MLD; adult type;dbSNP:rs74315455).
99G -> V (in MLD; late-infantile form;dbSNP:rs74315455).
119G -> R (in MLD; juvenile-onset;dbSNP:rs199476364).
122G -> S (in MLD; adult type; rs74315461). VAR_007252
135L -> P (in MLD; dbSNP:rs121434215). VAR_007253
136P -> L (in MLD; severe late-infantiletype; loss of enzymatic activity;
136P -> S (in MLD; late-infantile form;dbSNP:rs60504011).
137Missing (in MLD). VAR_054173
138H -> D (in MLD; significantly loweractivity than wild-type protein;
143R -> G (in MLD; juvenile/adult-onset;generates 5% as much activity as the
148P -> L (in MLD; juvenile-onset;dbSNP:rs199476375).
152D -> Y (in MLD; dbSNP:rs199476365). VAR_007255
153Q -> H (in MLD; late-infantile form; noenzyme residual activity;
154G -> D (in MLD; dbSNP:rs74315463). VAR_007256
155P -> L (in MLD; juvenile-onset;dbSNP:rs74315464).
155P -> R (in MLD; dbSNP:rs74315464). VAR_007257
156C -> R (in MLD; adult type; enzymeactivity reduced to 50% of wild-type
167P -> R (in MLD; dbSNP:rs74315465). VAR_007258
169D -> N (in MLD; dbSNP:rs74315466). VAR_007259
172C -> Y (in MLD; juvenile-onset;dbSNP:rs199476381).
179I -> S (in MLD; mild; dbSNP:rs74315457). VAR_007261
181L -> Q (in MLD; infantile form;dbSNP:rs199476378).
190Q -> H (in MLD; no enzyme residualactivity; dbSNP:rs199476372).
191P -> T (in MLD; juvenile-onset;dbSNP:rs199476374).
193W -> C (in dbSNP:rs6151415). VAR_007262
201Y -> C (in MLD; juvenile-onset; resultsin higly reduced enzyme activity and
212A -> P (in MLD; loss of enzymaticactivity; dbSNP:rs199476341).
212A -> V (in MLD; dbSNP:rs74315467). VAR_007264
217R -> H (in MLD; enzyme activity reducedto 15.6% of wild-type enzyme;
219F -> V (in MLD; enzyme activity reducedto less than 1% of normal activity;
224A -> V (in MLD; dbSNP:rs74315468). VAR_007265
227H -> Y (in MLD; late-infantile form;dbSNP:rs199476354).
231P -> T (in MLD; dbSNP:rs74315469). VAR_007266
244R -> C (in MLD; juvenile-onset;dbSNP:rs74315470).
244R -> H (in MLD; infantile-onset;dbSNP:rs199476366).
245G -> R (in MLD; severe;dbSNP:rs74315471).
247F -> S (in MLD; dbSNP:rs199476384). VAR_054186
250S -> Y (in MLD; infantile-onset;dbSNP:rs199476367).
253E -> K (in MLD; late-infantile;dbSNP:rs74315483).
255D -> H (in MLD; late-infantile form; noenzyme residual activity; leads to a
274T -> M (in MLD; severe; 35% of normalactivity; dbSNP:rs74315472).
281D -> Y (in MLD; dbSNP:rs199476386). VAR_054189
282N -> S (in MLD; enzyme activity reducedto 0.6% of wild-type enzyme;
286T -> P (in MLD; adult type;dbSNP:rs28940894).
288R -> C (in MLD; dbSNP:rs74315473). VAR_007272
288R -> H (in MLD; adult form;dbSNP:rs199476355).
293G -> D (in MLD; late-onset;dbSNP:rs199476387).
293G -> S (in MLD; adult type; causes asevere reduction of enzyme activity;
294C -> Y (in MLD; juvenile-onset; causes asevere reduction of enzyme activity;
295S -> Y (in MLD; severe;dbSNP:rs74315474).
298L -> S (in MLD; late-infantile form;complete loss of enzyme activity;
300C -> F (in MLD; late-infantile-onset;enzyme activity reduced to less than 1%;
302K -> N (in MLD; enzyme activity reducedto 2.8% of wild-type enzyme;
304T -> M (in MLD; loss of enzymaticactivity; dbSNP:rs199476359).
306Y -> H (in MLD; juvenile-onset;dbSNP:rs199476379).
307E -> K (in MLD; loss of enzymaticactivity; dbSNP:rs199476360).
308G -> D (in MLD; late-infantile form;dbSNP:rs199476356).
308G -> V (in MLD; late-infantile form; noenzyme residual activity;
309G -> S (in MLD; severe; 13% of normalactivity; dbSNP:rs74315459).
311R -> Q (in MLD; juvenile-onset;dbSNP:rs199476382).
312E -> D (in MLD; low amounts of residualenzyme activity; leads to a decreased
314A -> T (in MLD; infantile-onset;dbSNP:rs199476368).
325G -> S (in MLD; juvenile-onset;dbSNP:rs148092995).
327T -> I (in MLD; late-infantile form). VAR_054203
335D -> V (in MLD; late-infantile-onset;loss of enzymatic activity;
350N -> S (associated with arylsulfatase Apseudodeficiency; appears to be
356F -> V (in dbSNP:rs6151422). VAR_018838
367K -> N (in MLD; dbSNP:rs199476369). VAR_007279
370R -> Q (in MLD; mild; dbSNP:rs74315477). VAR_007280
370R -> W (in MLD; severe; no enzymeresidual activity; dbSNP:rs74315476).
376Y -> N (in MLD; enzyme activity reducedto 4.7% of wild-type enzyme;
377P -> L (in MLD; severe;dbSNP:rs74315478).
381D -> E (in MLD; early-infantile form;dbSNP:rs6151425).
382E -> K (in MLD; intermediate;dbSNP:rs74315479).
384R -> C (in MLD; dbSNP:rs199476370). VAR_007284
390R -> Q (in MLD; juvenile-onset;dbSNP:rs199476391).
390R -> W (in MLD; late-infantile andjuvenile-onset; dbSNP:rs74315480).
391T -> S (in dbSNP:rs743616). VAR_007287
397H -> Y (in MLD; adult-onset;dbSNP:rs199476376).
398Missing (in MLD). VAR_007289
406Missing (in MLD; late-infantile-onset). VAR_007290
406S -> G (in MLD; loss of enzymaticactivity; dbSNP:rs199476361).
408T -> I (in MLD; adult type;dbSNP:rs28940895).
409T -> I (in MLD; mild; dbSNP:rs74315481). VAR_054207
425P -> T (in MLD; juvenile-onset; retainsabout 12% of specific enzyme activity;
426P -> L (in MLD; juvenile/adult-onset;mild; common mutation; dbSNP:rs28940893).
428L -> P (in MLD; late-infantile form;dbSNP:rs199476392).
429Y -> S (in MLD; adult-onset;dbSNP:rs199476380).
440N -> S (in dbSNP:rs6151427). VAR_018839
464A -> V. VAR_007292
469A -> G (in MLD; early-infantile form;dbSNP:rs199476385).
489C -> G (in MLD; late-onset;dbSNP:rs199476388).
496R -> H (in dbSNP:rs6151428). VAR_007293
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
693-oxoalanine (Cys).PVSLCTPSR
CCCCCHHHH
4.02UniProtKB
Link
158N-linked (Glc...)GPCQNLTCF
CCCCCCCCC
43.99HPRD
Link
158N-linked (GlcNAc...).GPCQNLTCF
CCCCCCCCC
43.99UniProtKB
Link
184N-linked (Glc...)PLLANLSVE
CCCCCCCCC
32.58HPRD
Link
184N-linked (GlcNAc...).PLLANLSVE
CCCCCCCCC
32.58UniProtKB
Link
350N-linked (Glc...)APLPNVTLD
CCCCCEEEC
47.27HPRD
Link
350N-linked (Glc...)APLPNVTLD
CCCCCEEEC
47.27HPRD
Link
350N-linked (GlcNAc...).APLPNVTLD
CCCCCEEEC
47.27UniProtKB
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
BMPR2_HUMANin vitroHPRD:09617HPRD15188402
G3ST1_HUMANin vitroHPRD:09617HPRD2562955
ARSA_HUMANin vitroHPRD:09617HPRD9521684
AGAL_HUMANENSP00000216124STRING
NEUR1_HUMANENSP00000216124STRING
NEUR2_HUMANENSP00000216124STRING
GALC_HUMANENSP00000216124STRING
NEUR3_HUMANENSP00000216124STRING
CGT_HUMANENSP00000216124STRING
DEGS1_HUMANENSP00000216124STRING
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Disease Reference
Kegg disease
OMIM disease
250100Leukodystrophy metachromatic (MLD)
272200Multiple sulfatase deficiency (MSD)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
N-linked Glycosylation
ReferencePubMed
"Glycoproteomics analysis of human liver tissue by combination ofmultiple 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).
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-158 AND ASN-350, AND MASSSPECTROMETRY.
"Crystal structure of a covalent intermediate of endogenous humanarylsulfatase A.";
Chruszcz M., Laidler P., Monkiewicz M., Ortlund E., Lebioda L.,Lewinski K.;
J. Inorg. Biochem. 96:386-392(2003).
Cited for: X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS) OF 19-507, SUBUNIT,GLYCOSYLATION AT ASN-158 AND ASN-184, ACTIVE SITE, ENZYME REGULATION,CALCIUM-BINDING, AND COFACTOR.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures