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Arsa Gene Detail
Summary
  • Symbol
    Arsa
  • Name
    arylsulfatase A
  • Synonyms
    As-2, As2, AS-A, ASA
  • Feature Type
    protein coding gene
  • IDs
    MGI:88077
    NCBI Gene: 11883
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:89356679-89361627 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 44.94 cM, cytoband E
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    155 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 Chr15:89356679-89361628 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARSA, arylsulfatase A
  • Synonyms
    ASA, MLD
  • Links
    NCBI Gene ID: 410
    neXtProt AC: NX_P15289
    UniProt: P15289

  • Chr Location
    22q13.33; chr22:50622754-50628173 (-)  GRCh38
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
less
  • Phenotype Summary
    46 phenotypes from 1 allele in 2 genetic backgrounds
    2 images
    49 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
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
neoplasm
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
less
  • All GO Annotations
    44
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    833
  • Tissues
    117
  • cDNA Data
    74
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    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 96
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 12
      Phenotypes 49
    • 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:321288 Babcock MC, et al., Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor. Sci Rep. 2021 Jul 14;11(1):14486
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory