Arsa arylsulfatase A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arsaprovided by MGI
Official Full Name: arylsulfatase Aprovided by MGI
Primary source: MGI:MGI:88077
See related: Ensembl:ENSMUSG00000022620 AllianceGenome:MGI:88077
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ASA; As2; AS-A; As-2; TISP73
Summary: Predicted to enable arylsulfatase activity and calcium ion binding activity. Acts upstream of or within binding activity of sperm to zona pellucida. Located in plasma membrane. Is expressed in brain and genitourinary system. Used to study metachromatic leukodystrophy. Human ortholog(s) of this gene implicated in metachromatic leukodystrophy. Orthologous to human ARSA (arylsulfatase A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis adult (RPKM 87.4), lung adult (RPKM 26.7) and 24 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15 E3; 15 44.94 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89356679..89361627, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89472476..89477424, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deep proteomic profiling unveils arylsulfatase A as a non-alcoholic steatohepatitis inducible hepatokine and regulator of glycemic control.
Title: Deep proteomic profiling unveils arylsulfatase A as a non-alcoholic steatohepatitis inducible hepatokine and regulator of glycemic control.
Multipotential Neural precursors deficient in arylsulfatase A show a higher ratio of long versus short fatty acid sulfatides, reduction in PDGFRa, decreased AKT phosphorylation, and increased exosomal shedding of PDGFRa.
Title: Dysfunction of platelet-derived growth factor receptor α (PDGFRα) represses the production of oligodendrocytes from arylsulfatase A-deficient multipotential neural precursor cells.
distributed not only on the cell surfaces of endothelial cells and hepatocytes, but also on the collagen fibrils in the space of Disse
Title: Novel structure of hepatic extracellular matrices containing arylsulfatase A.
Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
Title: Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
Sulfogalactosylglycerolipid was a physiological substrate of Sertoli lysosomal arylsulfatase A
Title: Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
study provides the first proof of cognitive deficit and impaired synaptic plasticity in an MLD mouse model.
Title: Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy.
ArsA plays a role as a novel component of the extracellular matrix which could be very useful for clarifying the mechanisms underlying some of the syndromes caused by functional deficiency of the Ars genes.
Title: Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels
Title: Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
Lysosomal AS-A may be involved in cell-surface remodeling during luteolysis by desulfating SGG after its endocytosis and targeting to the lysosome.
Title: Presence of arylsulfatase A and sulfogalactosylglycerolipid in mouse ovaries: localization to the corpus luteum.
Safety of Arsa overexpression for gene therapy of metachromatic leukodystrophy was evaluated.
Title: Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

DLAT (e-PCR)
- UniSTS:48474

Arsa (e-PCR), detects polymorphism
- UniSTS:507996

Arsa (e-PCR), detects polymorphism
- UniSTS:546660

AW212749 (e-PCR)
- UniSTS:186037

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables arylsulfatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arylsulfatase activity	IEA Inferred from Electronic Annotation more info
enables arylsulfatase activity	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables cerebroside-sulfatase activity	IEA Inferred from Electronic Annotation more info
enables sulfuric ester hydrolase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in autophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within binding of sperm to zona pellucida	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	ISO Inferred from Sequence Orthology more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	ISO Inferred from Sequence Orthology more info
involved_in response to methylmercury	IEA Inferred from Electronic Annotation more info
involved_in response to methylmercury	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to pH	IEA Inferred from Electronic Annotation more info
involved_in response to pH	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: arylsulfatase A

Names: cerebroside-sulfatase

NP_033843.2

EC 3.1.6.8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009713.4 → NP_033843.2 arylsulfatase A precursor

See identical proteins and their annotated locations for NP_033843.2

Status: VALIDATED

Source sequence(s)

AC137513

Consensus CDS

CCDS27753.1

UniProtKB/Swiss-Prot

P50428, Q9DC66

Related

ENSMUSP00000127646.2, ENSMUST00000165199.8

Conserved Domains (2) summary

COG3119
Location:16 → 440

AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]

cl23718
Location:19 → 502

ALP_like; alkaline phosphatases and sulfatases