Gene/Proteome Database (LMPD)

LMPD ID
LMP002799
Gene ID
410
Species
Homo sapiens (Human)
Gene Name
arylsulfatase A
Gene Symbol
ARSA
Synonyms
MLD
Chromosome
22
Map Location
22q13.33
EC Number
3.1.6.8
Summary
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
Orthologs
View orthologs and multiple alignments for ARSA

Proteins

arylsulfatase A isoform a precursor
Refseq ID NP_000478
Protein GI 313569791
UniProt ID P15289
mRNA ID NM_000487
Length 509
RefSeq Status REVIEWED
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
arylsulfatase A isoform a precursor
Refseq ID NP_001078895
Protein GI 313569795
UniProt ID P15289
mRNA ID NM_001085426
Length 509
RefSeq Status REVIEWED
Protein sequence is identical to GI:313569791 (mRNA isoform)
arylsulfatase A isoform a precursor
Refseq ID NP_001078896
Protein GI 313569797
UniProt ID P15289
mRNA ID NM_001085427
Length 509
RefSeq Status REVIEWED
Protein sequence is identical to GI:313569791 (mRNA isoform)
arylsulfatase A isoform a precursor
Refseq ID NP_001078894
Protein GI 313569793
UniProt ID P15289
mRNA ID NM_001085425
Length 509
RefSeq Status REVIEWED
Protein sequence is identical to GI:313569791 (mRNA isoform)
arylsulfatase A isoform b
Refseq ID NP_001078897
Protein GI 313569797
UniProt ID P15289
mRNA ID NM_001085428
Length 509
RefSeq Status REVIEWED
Protein sequence is identical to GI:313569791 (mRNA isoform)
sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1913 peptide sequence: MSMGAPRSLLLALAAGLAVA mat_peptide: 21..509 product: arylsulfatase A isoform a calculated_mol_wt: 51911 peptide sequence: RPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1913 peptide sequence: MSMGAPRSLLLALAAGLAVA mat_peptide: 21..509 product: arylsulfatase A isoform a calculated_mol_wt: 51911 peptide sequence: RPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1913 peptide sequence: MSMGAPRSLLLALAAGLAVA mat_peptide: 21..509 product: arylsulfatase A isoform a calculated_mol_wt: 51911 peptide sequence: RPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1913 peptide sequence: MSMGAPRSLLLALAAGLAVA mat_peptide: 21..509 product: arylsulfatase A isoform a calculated_mol_wt: 51911 peptide sequence: RPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA

Gene Information

Entrez Gene ID
410
Gene Name
arylsulfatase A
Gene Symbol
ARSA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0001669 IEA:Ensembl C acrosomal vesicle
GO:0005788 TAS:Reactome C endoplasmic reticulum lumen
GO:0005768 IEA:Ensembl C endosome
GO:0005615 IEA:Ensembl C extracellular space
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0031232 IEA:Ensembl C extrinsic component of external side of plasma membrane
GO:0016021 IEA:Ensembl C integral component of membrane
GO:0043202 TAS:Reactome C lysosomal lumen
GO:0005764 TAS:ProtInc C lysosome
GO:0004065 TAS:ProtInc F arylsulfatase activity
GO:0005509 IDA:UniProtKB F calcium ion binding
GO:0004098 TAS:Reactome F cerebroside-sulfatase activity
GO:0008484 IDA:MGI F sulfuric ester hydrolase activity
GO:0006914 IEA:Ensembl P autophagy
GO:0007339 IEA:Ensembl P binding of sperm to zona pellucida
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0007417 IEA:Ensembl P central nervous system development
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0043627 IEA:Ensembl P response to estrogen
GO:0045471 IEA:Ensembl P response to ethanol
GO:0051597 IEA:Ensembl P response to methylmercury
GO:0007584 IEA:Ensembl P response to nutrient
GO:0009268 IEA:Ensembl P response to pH
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome
hsa00600 Sphingolipid metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116105 Glycosphingolipid metabolism
REACT_121036 The activation of arylsulfatases

Domain Information

InterPro Annotations

Accession Description
IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
IPR017850 Alkaline-phosphatase-like, core domain
IPR000917 Sulfatase
IPR024607 Sulfatase, conserved site

UniProt Annotations

Entry Information

Gene Name
arylsulfatase A
Protein Entry
ARSA_HUMAN
UniProt ID
P15289
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P15289-1; Sequence=Displayed; Name=2; IsoId=P15289-2; Sequence=VSP_046190; Note=No experimental confirmation available.;
Catalytic Activity A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate.
Cofactor Name=Ca(2+); Xref=ChEBI
Disease Leukodystrophy metachromatic (MLD) [MIM
Disease Multiple sulfatase deficiency (MSD) [MIM
Enzyme Regulation Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
Function Hydrolyzes cerebroside sulfate.
Miscellaneous The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit.
Ptm 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. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
Sequence Caution Sequence=AAB03341.1; Type=Erroneous initiation; Evidence= ; Sequence=BAH11167.1; Type=Erroneous initiation; Evidence= ;
Similarity Belongs to the sulfatase family.
Subcellular Location Lysosome.
Subunit Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1. {ECO
Web Resource Name=Arylsulfatase A (ARSA); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ARSA";
Web Resource Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/arsa/";
Web Resource Name=Wikipedia; Note=Arylsulfatase A entry; URL="http://en.wikipedia.org/wiki/Arylsulfatase_A";

Identical and Related Proteins

Unique RefSeq proteins for LMP002799 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
313569791 RefSeq NP_000478 509 arylsulfatase A isoform a precursor

Identical Sequences to LMP002799 proteins

Reference Database Accession Length Protein Name
GI:313569791 DBBJ BAH11167.1 509 arylsulfatase A [Homo sapiens]
GI:313569791 DBBJ BAI45274.1 509 arylsulfatase A, partial [synthetic construct]
GI:313569791 GenBank ACP88189.1 509 Sequence 66 from patent US 7504247
GI:313569791 RefSeq NP_001078894.2 509 arylsulfatase A isoform a precursor [Homo sapiens]
GI:313569791 RefSeq NP_001078895.2 509 arylsulfatase A isoform a precursor [Homo sapiens]
GI:313569791 RefSeq NP_001078896.2 509 arylsulfatase A isoform a precursor [Homo sapiens]

Related Sequences to LMP002799 proteins

Reference Database Accession Length Protein Name
GI:313569791 GenBank AAY75655.1 520 Sequence 558 from patent US 6900016
GI:313569791 GenBank EAW73582.1 509 arylsulfatase A, isoform CRA_a [Homo sapiens]
GI:313569791 GenBank EAW73583.1 509 arylsulfatase A, isoform CRA_a [Homo sapiens]
GI:313569791 GenBank ABM83843.1 509 arylsulfatase A [synthetic construct]
GI:313569791 GenBank ABM87165.1 509 arylsulfatase A, partial [synthetic construct]
GI:313569791 GenBank ADT53282.1 509 Sequence 25 from patent US 7842492