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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ARSA Gene

protein-coding GIFtS: 68
GCID: GC22M051063

Arylsulfatase A

Alzheimer's & Parkinson's Diseases Congress

See related diseases
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Arylsulfatase A¹ ²		cerebroside-sulfatase²
ASA² ³		Cerebroside-sulfatase³
Metachromatic Leucodystrophy¹		EC 3.1.6.8³
MLD²		EC 3.1.6⁸

External Ids:	HGNC: 713¹	Entrez Gene: 410²	Ensembl: ENSG00000100299⁷	OMIM: 607574⁵	UniProtKB: P15289³

Export aliases for ARSA gene to outside databases

Previous GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARSA Gene:

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)

GeneCards Summary for ARSA Gene:

ARSA (arylsulfatase A) is a protein-coding gene. Diseases associated with ARSA include metachromatic leukodystrophy, and nervous system cancer, and among its related super-pathways are Sphingolipid metabolism and The activation of arylsulfatases. GO annotations related to this gene include sulfuric ester hydrolase activity and calcium ion binding. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289

Function: Hydrolyzes cerebroside sulfate

Gene Wiki entry for ARSA (Arylsulfatase A) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.2 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ARSA gene promoter:
GR ER-alpha AML1a RelA Nkx2-5 E4BP4 NF-kappaB COMP1 GR-alpha NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ARSA promoter sequence

Search SABiosciences Chromatin IP Primers for ARSA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.33

ARSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARSA gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M051063: view genomic region (about GC identifiers)

Start:	51,061,182 bp from pter	End:	51,066,607 bp from pter
Size:	5,426 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289 (See protein sequence)

Recommended Name: Arylsulfatase A precursor

Size: 507 amino acids; 53588 Da

Cofactor: Binds 1 calcium ion per subunit

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

Subcellular location: Lysosome

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

Sequence caution: Sequence=AAB03341.1; Type=Erroneous initiation; Sequence=BAH11167.1; Type=Erroneous initiation;

6/9 PDB 3D structures from and Proteopedia for ARSA (see all 9):

1AUK (3D)

1E1Z (3D)

1E2S (3D)

1E33 (3D)

1E3C (3D)

1N2K (3D)

Secondary accessions: B2RCA6 B7XD04 F8WCC8 Q6ICI5 Q96CJ0

Alternative splicing: 2 isoforms: P15289-1 P15289-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARSA: NX_P15289

Explore proteomics data for ARSA at MOPED

Post-translational modifications:

UniProtKB: 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)

View neXtProt modification sites for NX_P15289

2 DME Specific Peptides for ARSA (P15289)

GKYKAHF

PSRAALLTGRLP

ARSA Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (5 alternative transcripts):

NP_000478.3 NP_001078894.2 NP_001078895.2 NP_001078896.2 NP_001078897.1

ENSEMBL proteins:

ENSP00000348406 ENSP00000216124 ENSP00000378983 ENSP00000412542 ENSP00000378981

ENSP00000448440 ENSP00000448932

Reactome Protein details: P15289
Human Recombinant Protein Products for ARSA:

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	TAS	2562955
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0043202	lysosomal lumen	TAS	--

ARSA for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

ARS: Arylsulfatase family

4 InterPro protein domains:

IPR000917 Sulfatase

IPR017849 Alkaline_Pase-like_a/b/a

IPR024607 Sulfatase_CS

IPR017850 Alkaline_phosphatase_core

Graphical View of Domain Structure for InterPro Entry P15289

ProtoNet protein and cluster: P15289

1 Blocks protein domain: IPB000917 Sulfatase

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289

Similarity: Belongs to the sulfatase family

ARSA for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ARSA_HUMAN, P15289

Function: Hydrolyzes cerebroside sulfate

Catalytic activity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate

Enzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine

Genatlas biochemistry entry for ARSA:

arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids

Enzyme Numbers (IUBMB): EC 3.1.6.8¹ EC 3.1.6²

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004065	arylsulfatase activity	TAS	2562955
GO:0004098	cerebroside-sulfatase activity	TAS	--
GO:0005509	calcium ion binding	IDA	12888274
GO:0008484	sulfuric ester hydrolase activity	IDA	15962010

ARSA for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for ARSA:

Cell cycle / mitosis defect

Decreased viability of wild-ty

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Arsa):

behavior/neurological	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system
nervous system

ARSA for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Arsa^tm1Gie for ARSA

inGenious Targeting Laboratory - Custom generated mouse model solutions for ARSA

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARSA

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARSA

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ARSA About

See pathways by source

SuperPath

Contained pathways About

Sphingolipid metabolism

	Sphingolipid metabolism	0.63			Glycosphingolipid metabolism	0.55
	Sphingolipid metabolism	0.63

PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

0.46

The activation of arylsulfatases

0.46

Metabolism

Metabolism

0.40

Metabolism of lipids and lipoproteins

0.34

Asparagine N-linked glycosylation

Post-translational protein modification

0.44

Metabolism of proteins

0.35

Lysosome

Lysosome

Pathways by source See SuperPaths
Show all pathways

5/8 Reactome Pathways for ARSA (see all 8)

	Sphingolipid metabolism
	Glycosphingolipid metabolism
	Metabolism
	PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
	Metabolism of proteins

2 Kegg Pathways (Kegg details for ARSA):

	Sphingolipid metabolism
	Lysosome

ARSA for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ARSA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/26 Interacting proteins for ARSA (P15289³ ENSP00000216124⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLEC4G	Q6UXB4³, ENSP00000327599⁴	I2D: score=2 STRING: ENSP00000327599
CTSL	P07711³, ENSP00000345344⁴	I2D: score=1 STRING: ENSP00000345344
TRIP13	Q15645³	I2D: score=1
ARSB	ENSP00000264914⁴	STRING: ENSP00000264914
ARSD	ENSP00000370546⁴	STRING: ENSP00000370546

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006687	glycosphingolipid metabolic process	TAS	--
GO:0007339	binding of sperm to zona pellucida	IEA	--
GO:0008152	metabolic process	--	--
GO:0043687	post-translational protein modification	TAS	--

ARSA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ARSA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ARSA

10/11 HMDB Compounds for ARSA (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
3-O-Sulfogalactosylceramide (d18:1/24:0)	Sulfatide (d18:1/24:0) (see all 16)	151122-71-3	--
Galactosylceramide (d18:1/16:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/18:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/18:1(9Z))	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/20:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/22:0)	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/24:1(15Z))	Galactocerebroside (see all 15)	--	--
Galactosylceramide (d18:1/26:1(17Z))	Galactocerebroside (see all 15)	--	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Sulfate	Sulfate (ion 2-) (see all 9)	14808-79-8	--

4 DrugBank Compounds for ARSA About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Micafungin	--	235114-32-6	enzyme	substrate	15882123 17516879
N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium	--	--	target	--	10592235
Suramin	Bayer 205 (see all 6)	145-63-1	enzyme	inhibitor	7291729
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid	--	--	target	--	--
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid	--	--	enzyme	--	--

10/42 Novoseek inferred chemical compound relationships for ARSA gene (see all 42) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sulfatide	95.1	72	1359786 (6), 10894127 (3), 15322834 (2), 17204333 (2) (see all 37)
formylglycine	90.1	3	10212197 (1), 9497327 (1), 9760228 (1)
p-nitrocatechol sulfate	89.9	14	10464659 (2), 1687673 (2), 16613739 (2), 11870284 (1) (see all 7)
cerebroside	77.4	9	10082381 (1), 11746679 (1), 1687673 (1), 15275696 (1) (see all 6)
n-acetylgalactosamine 6-sulfate	72.1	2	1755850 (1), 1875023 (1)
mannose 6-phosphate	70.3	12	12296771 (3), 1352293 (1), 8106525 (1), 15709909 (1) (see all 7)
sulf	66.4	5	16311251 (2), 17093507 (2)
galactosylceramide	65.7	3	9024105 (1), 18097285 (1)
mucopolysaccharide	40.9	3	9336808 (2), 11315200 (1)
mannose	35.5	3	1352293 (1), 7890120 (1), 9202426 (1)

Search CenterWatch for drugs/clinical trials and news about ARSA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ARSA gene (5 alternative transcripts):

NM_000487.5 NM_001085425.2 NM_001085426.2 NM_001085427.2 NM_001085428.2

Unigene Clusters for ARSA:

Arylsulfatase A

Hs.88251 [show with all ESTs], Hs.731715 [show with all ESTs]

Unigene Representative Sequences: NM_000487, AK310564

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)

ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)

ENST00000547307 ENST00000547805

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA

Additional mRNA sequence:

AK301098.1 AK310564.1

17 DOTS entries:

DT.453952 DT.100731419 DT.100877746 DT.100877744 DT.95337986 DT.65287834 DT.100699710 DT.100877740

DT.100028446 DT.95337982 DT.100644967 DT.95337987 DT.100877741 DT.120644762 DT.40230542 DT.91745500

DT.97844860

24/228 AceView cDNA sequences (see all 228):

BX337658 BC014210 BX365605 BU618020 BQ927461 BI905793 CR599839 CB120047

BM763358 CB306644 NM_000487 CR614235 BM818814 CB125745 BM818658 AI366066

BI906735 CR590422 CB124424 CA423492 BQ669212 BM547797 R96096 BU632246

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ARSA (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	^	5a	·	5b	^	6a	·	6b	·	6c	^	7	^	8a	·	8b	^	9
SP1:																																	-
SP2:																													-				-
SP3:							-		-				-		-		-		-		-		-		-								-
SP4:																							-		-		-						-
SP5:									-

ECgene alternative splicing isoforms for ARSA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ARSA expression in normal human tissues (normalized intensities) ARSA embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TACCCTGGCG

About this image

ARSA expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/27 selected tissues (see all 27) fully expand


Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Colon (Gastrointestinal Tract) fully expand to see all 3 entries
colon ; peripheral nerve/ganglion

Uterus (Reproductive System) fully expand to see all 3 entries
uterus, post-menopause ; glandular cells

Lung (Respiratory System) fully expand to see all 3 entries
lung ; pneumocytes

See ARSA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARSA

SOURCE GeneReport for Unigene clusters: Hs.88251 Hs.731715

SABiosciences Custom PCR Arrays for ARSA

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ARSA gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Arsa^{1 , 5}	arylsulfatase A^{1, 5}	83.27(n)¹ 86.95(a)¹		15 (44.94 cM)⁵ 11883¹ NM_009713.4¹ NP_033843.2¹ 89472476⁵
chicken (Gallus gallus)	Aves	ARSA¹	arylsulfatase A	66.67(n) 65.19(a)		426863 XM_424471.3 XP_424471.3
lizard (Anolis carolinensis)	Reptilia	-- --	--	67(a) 64(a)	1 ↔ many 1 ↔ many	GL343765.1(209941-216295) GL344984.1(10017-16548)
zebrafish (Danio rerio)	Actinopterygii	arsa¹	arylsulfatase A	59.06(n) 57.64(a)		541416 NM_001013543.1 NP_001013561.1
worm (Caenorhabditis elegans)	Secernentea	D1014.1³	arylsulfatase	36(a)		V(8160224-8161279) --

ENSEMBL Gene Tree for ARSA (if available)
TreeFam Gene Tree for ARSA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ARSA gene

ARSF² ARSI² ARSJ² ARSG² STS² ARSH² ARSB² GALNS²

ARSE² ARSD²

3 SIMAP similar genes for ARSA using alignment to 1 protein entry: ARSA_HUMAN:

DKFZp686G12235 GALNS ARSG

ARSA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_054203⁴		Leukodystrophy metachromatic (MLD)⁴	--	see VAR_054203	2	T I	mis⁴		0	--	--	--	--
VAR_007249⁴		Leukodystrophy metachromatic (MLD)⁴	--	see VAR_007249	2	S L	mis⁴		0	--	--	--	--
rs28940893^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006735(-)	`GCCCCC/TGCTGC`	10	P L	mis¹ ese³		1		NA	3842
rs74315485^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006739(-)	`ATGAGA/CCCCCG`	10	T P	mis¹		0	--	--	--	--
rs74315481^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006786(-)	`TACCAC/TTGCAG`	10	T I	mis¹		0	--	--	--	--
rs28940895^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006789(-)	`TGATAC/TCACTG`	10	T I	mis¹ ese³		0	--	--	--	--
rs199476391^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ untested¹	35006957(-)	`TGTGCG/AGACTG`	10	/Q /R	mis¹		1		EU	1315
rs74315480^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006958(-)	`CTGTGC/TGGACT`	10	R W	mis¹		0	--	--	--	--
rs199476370^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ untested¹	35006976(-)	`AGGTCC/TGTGGG`	10	R C	mis¹		0	--	--	--	--
rs74315479^1,2,4	C	Leukodystrophy metachromatic (MLD)⁴ pathogenic¹	35006982(-)	`CAGACA/GAGGTC`	10	K E	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ARSA (51061182 - 51066607 bp)

Structural Variations
Database of Genomic Variants (DGV) 9 variations for ARSA: About this table

Variant ID	Type	Subtype	PubMed ID
dgv5069n71	CNV	Loss	21882294
nsv915495	CNV	Loss	21882294
dgv5068n71	CNV	Loss	21882294
nsv914543	CNV	Loss	21882294
nsv834239	CNV	Loss	17160897
dgv5066n71	CNV	Loss	21882294
dgv5067n71	CNV	Loss	21882294
nsv914542	CNV	Loss	21882294
nsv519694	CNV	Gain+Loss	19592680

Human Gene Mutation Database (HGMD): ARSA

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 607574
OMIM disorders: 250100
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289

Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect.

Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse

loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological

symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis.

Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and

adult. Note=The disease is caused by mutations affecting the gene represented in this entry

Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder

caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and

activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy,

mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and

developmental delay. Note=The protein represented in this entry is involved in disease pathogenesis.

Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations

result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to

3-oxoalanine

20/51 diseases for ARSA (see all 51): About MalaCards

metachromatic leukodystrophy nervous system cancer central nervous system cancer sneddon syndrome

fabry disease gangliosidosis gm1 sandhoff disease krabbe disease

wilson disease choroideremia tay-sachs disease leukodystrophy

gaucher's disease gangliosidosis essential tremor pervasive developmental disorder

lysosomal storage disease dysostosis tremor mucolipidosis

6 diseases from the University of Copenhagen DISEASES database for ARSA:

Metachromatic leukodystrophy Mucosulfatidosis Mucopolysaccharidosis Krabbe disease

Mucolipidosis Cerebral lipidosis

ARSA for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/37 Novoseek inferred disease relationships for ARSA gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukodystrophy metachromatic	99	308	1687673 (4), 1670590 (3), 12427515 (3), 1357970 (3) (see all 99)
leukodystrophy metachromatic late infantile	95.6	8	8723680 (1), 14571263 (1), 9272717 (1), 9888390 (1) (see all 6)
leukodystrophy metachromatic adult	93.3	2	7710377 (2)
multiple sulfatase deficiency	90.5	6	9336808 (2), 12809637 (1), 15446395 (1), 1687673 (1)
leukodystrophy metachromatic juvenile	89.2	3	8707308 (1), 1684088 (1)
lysosomal storage diseases	87.2	43	1348043 (1), 7860068 (1), 8542433 (1), 9090526 (1) (see all 27)
demyelination	75	16	7904733 (2), 7866401 (1), 10822308 (1), 15322834 (1) (see all 11)
sphingolipidoses	67.3	1	18360747 (1)
krabbe disease	64.2	4	7755846 (1), 10713632 (1), 15275696 (1)
enzyme deficiency	59.1	4	18797988 (1), 17980709 (1), 1968615 (1)

GeneTests: ARSA
GeneReviews: ARSA
Genetic Association Database (GAD): ARSA
Human Genome Epidemiology (HuGE) Navigator: ARSA (5 documents)

Export disorders for ARSA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ARSA gene, integrated from 9 sources (see all 332):
(articles sorted by number of sources associating them with ARSA)

Utopia: connect your pdf to the dynamic
world of online information

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. (PubMed id 15026521)^{1, 2, 4} Gallo S.... Pandolfo M. (2004)
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)^{1, 2, 9} Marcao A.... Sa Miranda M.C. (2003)
High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (PubMed id 8101038)^{1, 2, 9} Kreysing J.... Gieselmann V. (1993)
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PubMed id 18693274)^{1, 2, 9} Grossi S....Filocamo M. (2008)
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. (PubMed id 12459318)^{1, 4, 9} Bognar S.K....Demarin V. (2002)
Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. (PubMed id 11124905)^{1, 2, 9} von Buelow R.... Uson I. (2001)
Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. (PubMed id 9888390)^{1, 2, 9} Berger J.... Bernheimer H. (1999)
An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (PubMed id 8104633)^{1, 2, 9} Harvey J.S.... Morris C.P. (1993)
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (PubMed id 15710861)^{1, 2, 9} Marcao A.M.... Gieselmann V. (2005)
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)^{1, 2, 9} Ricketts M.H.... Manowitz P. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 410	HGNC: 713	AceView: ARSA	Ensembl:ENSG00000100299	euGenes: HUgn410
ECgene: ARSA	Kegg: 410	H-InvDB: ARSA

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ARSA	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSA
NIEHS-SNPs	http://egp.gs.washington.edu/data/arsa/
Wikipedia	http://en.wikipedia.org/wiki/Arylsulfatase_A

Intellectual Property for ARSA gene
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Patent Information for ARSA gene:
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GeneCards and IP:
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