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ARSA arylsulfatase A [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000487 Homo sapiens arylsulfatase A (ARSA), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001085425 Homo sapiens arylsulfatase A (ARSA), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001085426 Homo sapiens arylsulfatase A (ARSA), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001085427 Homo sapiens arylsulfatase A (ARSA), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001085428 Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006724414 PREDICTED: Homo sapiens arylsulfatase A (ARSA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol ARSA
Entrez Gene ID 410
Full Name arylsulfatase A
Synonyms MLD
General protein information
Preferred Names
arylsulfatase A
Names
arylsulfatase A
ASA
cerebroside-sulfatase
NP_000478.3
NP_001078894.2
NP_001078895.2
NP_001078896.2
NP_001078897.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q13.33

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].
Disorder

MIM: 607574

Metachromatic leukodystrophy, 250100 (3)

mRNA Protein Product Sequence Price Select
NM_000487, 313569790 NP_000478, 313569791 arylsulfatase A isoform a precursor ORF Sequence $550.00
NM_001085425, 313569792 NP_001078894, 313569793 arylsulfatase A isoform a precursor ORF Sequence $550.00
NM_001085426, 313569794 NP_001078895, 313569795 arylsulfatase A isoform a precursor ORF Sequence $550.00
NM_001085427, 313569796 NP_001078896, 313569797 arylsulfatase A isoform a precursor ORF Sequence $550.00
NM_001085428, 313569798 NP_001078897, 146229327 arylsulfatase A isoform b ORF Sequence $550.00
XM_006724414, 578837688 XP_006724477, 578837689 arylsulfatase A isoform X1 ORF Sequence $550.00
KEGG
hsa00600Sphingolipid metabolism
hsa04142Lysosome
Reactome
REACT_19323Sphingolipid metabolism
REACT_17015Metabolism of proteins
REACT_1069PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
REACT_22258Metabolism of lipids and lipoproteins
REACT_22161Post-translational protein modification
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
REACT_121036The activation of arylsulfatases
Homo sapiens (human)ARSANP_000478.3
Pan troglodytes (chimpanzee)ARSAXP_003317377.1
Macaca mulatta (Rhesus monkey)ARSAXP_001113032.1
Canis lupus familiaris (dog)ARSANP_001041548.1
Bos taurus (cattle)ARSANP_001068673.1
Mus musculus (house mouse)ArsaNP_033843.2
Rattus norvegicus (Norway rat)ArsaNP_001030105.2
Gallus gallus (chicken)ARSAXP_424471.3
Danio rerio (zebrafish)arsaNP_001013561.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100487749XP_002941879.1
Xenopus (Silurana) tropicalis (western clawed frog)arsaXP_002938337.2
Process
IDNameEvidence
GO:0006665sphingolipid metabolic processTAS
GO:0006687glycosphingolipid metabolic processTAS
GO:0006914autophagyIEA
GO:0007339binding of sperm to zona pellucidaIEA
GO:0007417central nervous system developmentIEA
GO:0007584response to nutrientIEA
GO:0009268response to pHIEA
GO:0043627response to estrogenIEA
GO:0043687post-translational protein modificationTAS
GO:0044267cellular protein metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0045471response to ethanolIEA
GO:0051597response to methylmercuryIEA
Component
IDNameEvidence
GO:0001669acrosomal vesicleIEA
GO:0005615extracellular spaceIEA
GO:0005764lysosomeTAS
GO:0005768endosomeIEA
GO:0005788endoplasmic reticulum lumenTAS
GO:0016021integral component of membraneIEA
GO:0031232extrinsic component of external side of plasma membraneIEA
GO:0043202lysosomal lumenTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004065arylsulfatase activityIEA
GO:0004098cerebroside-sulfatase activityTAS
GO:0005509calcium ion bindingIDA
GO:0008484sulfuric ester hydrolase activityIDA
GeneCards ARSA
UniProt P15289, B4DVI5
MIM 607574
HGNC 713
HPRD 09617

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ARSA gene?

The ARSA gene provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps process substances known as sulfatides. Sulfatides are a subgroup of sphingolipids, a category of fats that are important components of cell membranes. Sulfatides are abundant in the nervous system's white matter, consisting of nerve fibers covered by myelin. Myelin, made up of multiple layers of membranes, insulates and protects nerves.

Interactant

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