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Arsa Gene Detail
Summary
  • Symbol
    Arsa
  • Name
    arylsulfatase A
  • Synonyms
    As2, As-2, ASA, AS-A
  • Feature Type
    protein coding gene
  • IDs
    MGI:88077
    NCBI Gene: 11883
Location & Maps
more
  • Sequence Map
    Chr15:89472476-89477425 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4950 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ARSA, arylsulfatase A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ARSA, arylsulfatase A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MLD
  • Links
    NCBI Gene ID: 410
    neXtProt AC: NX_P15289

  • Chr Location
    22q13.33; chr22:50622754-50628173 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Arsa mouse models; 1 with human ARSA associations

Human Disease Mouse Models
       Metachromatic Leukodystrophy   OMIM: 250100 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 1 allele in 2 genetic backgrounds
    2 images
    42 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    1
  • Genomic Mutations
    3 involving Arsa
  • Incidental Mutations
Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035225 VEGA Gene Model | MGI Sequence Detail 4950 C57BL/6J ±  kb
transcript OTTMUST00000089775 VEGA | MGI Sequence Detail 3492 Not Applicable  
polypeptide OTTMUSP00000049092 VEGA | MGI Sequence Detail 506 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    51 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • EC
  • InterPro Domains
    IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
    IPR017850 Alkaline-phosphatase-like, core domain
    IPR024607 Sulfatase, conserved site
    IPR000917 Sulfatase, N-terminal
Molecular
Reagents
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  • All nucleic 80
    Genomic 4
    cDNA 74
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-1396, MGD-MRK-1402, MGD-MRK-1407, MGI:2146209
References
more
  • Summaries
    All 65
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 7
    Phenotypes 42
  • Earliest
    J:6651 Francke U, et al., Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22. Cytogenet Cell Genet. 1981;31(2):58-69
  • Latest
    J:221166 Mirzaian M, et al., Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry. J Lipid Res. 2015 Apr;56(4):936-43

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory