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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
  • Gene Overview
    MyGene.info: ARSA
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:89472476-89477424 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.94 cM, cytoband E
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    39 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88077
protein coding gene Chr15:89472476-89477425 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022238
protein coding gene Chr15:90675919-90680868 (-)
A/J MGP_AJ_G0022197
protein coding gene Chr15:87203854-87208803 (-)
AKR/J MGP_AKRJ_G0022172
protein coding gene Chr15:89789191-89794140 (-)
BALB/cJ MGP_BALBcJ_G0022203
protein coding gene Chr15:87307952-87312901 (-)
C3H/HeJ MGP_C3HHeJ_G0021973
protein coding gene Chr15:89787622-89792571 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022648
protein coding gene Chr15:93972469-93977418 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020173
protein coding gene Chr15:83425531-83430726 (-)
CAST/EiJ MGP_CASTEiJ_G0021495
protein coding gene Chr15:90572296-90577251 (-)
CBA/J MGP_CBAJ_G0021940
protein coding gene Chr15:97162223-97167172 (-)
DBA/2J MGP_DBA2J_G0022067
protein coding gene Chr15:86653630-86658582 (-)
FVB/NJ MGP_FVBNJ_G0022046
protein coding gene Chr15:85725465-85730414 (-)
LP/J MGP_LPJ_G0022138
protein coding gene Chr15:90833151-90838096 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022066
protein coding gene Chr15:101552187-101557136 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022663
protein coding gene Chr15:89825603-89830554 (-)
PWK/PhJ MGP_PWKPhJ_G0021236
protein coding gene Chr15:86716294-86721236 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021070
protein coding gene Chr15:89575858-89580761 (-)
WSB/EiJ MGP_WSBEiJ_G0021544
protein coding gene Chr15:90327577-90332526 (-)



Homology
more
  • Human Ortholog
    ARSA, arylsulfatase A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ARSA, arylsulfatase A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ASA, MLD
  • Links
    NCBI Gene ID: 410
    neXtProt AC: NX_P15289
    UniProt: P15289

  • Chr Location
    22q13.33; chr22:50622754-50628173 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    44 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11883 NCBI Gene Model | MGI Sequence Detail 4949 C57BL/6J ±  kb
    transcript NM_009713 RefSeq | MGI Sequence Detail 3491 C57BL/6  
    polypeptide P50428 UniProt | EBI | MGI Sequence Detail 506 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • EC
    • InterPro Domains
      IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
      IPR017850 Alkaline-phosphatase-like, core domain superfamily
      IPR024607 Sulfatase, conserved site
      IPR000917 Sulfatase, N-terminal
    Molecular
    Reagents
    less
    • All nucleic 81
      Genomic 4
      cDNA 75
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1396, MGD-MRK-1402, MGD-MRK-1407, MGI:2146209
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 8
      Phenotypes 44
    • 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:233611 Hirata A, et al., Homeobox family Hoxc localization during murine palate formation. Congenit Anom (Kyoto). 2016 Jul;56(4):172-9

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory