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Arsb Gene Detail
Summary
  • Symbol
    Arsb
  • Name
    arylsulfatase B
  • Synonyms
    1110007C02Rik, As1, As-1, As-1r, As1-r, As-1s, As1-s, As-1t, As1-t, Asr-1, Ast-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88075
    NCBI Gene: 11881
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:93908187-94079524 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 47.88 cM
  • Mapping Data
    28 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1478 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88075
 protein coding gene Chr13:93908138-94079524 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020829
 protein coding gene Chr13:95142989-95334246 (+)
A/J MGP_AJ_G0020783
 protein coding gene Chr13:91596747-91771494 (+)
AKR/J MGP_AKRJ_G0020757
 protein coding gene Chr13:94395666-94576524 (+)
BALB/cJ MGP_BALBcJ_G0020780
 protein coding gene Chr13:92242728-92417160 (+)
C3H/HeJ MGP_C3HHeJ_G0020573
 protein coding gene Chr13:94096331-94278594 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021216
 protein coding gene Chr13:98046619-98239445 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018784
 protein coding gene Chr13:87453751-87618718 (+)
CAST/EiJ MGP_CASTEiJ_G0020092
 protein coding gene Chr13:93344380-93526079 (+)
CBA/J MGP_CBAJ_G0020532
 protein coding gene Chr13:101939380-102149852 (+)
DBA/2J MGP_DBA2J_G0020657
 protein coding gene Chr13:91386976-91563435 (+)
FVB/NJ MGP_FVBNJ_G0020638
 protein coding gene Chr13:90179754-90345802 (+)
LP/J MGP_LPJ_G0020732
 protein coding gene Chr13:95265075-95440992 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020666
 protein coding gene Chr13:102431558-102621590 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021256
 protein coding gene Chr13:93769446-93962294 (+)
PWK/PhJ MGP_PWKPhJ_G0019844
 protein coding gene Chr13:90103087-90275427 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019668
 protein coding gene Chr13:90058547-90232490 (+)
WSB/EiJ MGP_WSBEiJ_G0020149
 protein coding gene Chr13:94282166-94460088 (+)



Homology
more
  • Human Ortholog
    ARSB, arylsulfatase B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARSB, arylsulfatase B
  • Synonyms
    ASB, G4S, MPS6
  • Links
    NCBI Gene ID: 411
    neXtProt AC: NX_P15848
    UniProt: P15848

  • Chr Location
    5q14.1; chr5:78777209-78986087 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Arsb mouse models; 1 with human ARSB associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 4 alleles in 5 genetic backgrounds
    7 images
    22 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 mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    10
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
non-membrane-bounded 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
    850
  • Tissues
    103
  • cDNA Data
    19
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11881 NCBI Gene Model | MGI Sequence Detail 171338 C57BL/6J ±  kb
    transcript NM_009712 RefSeq | MGI Sequence Detail 3989 ZRU/MplStud  
    polypeptide P50429 UniProt | EBI | MGI Sequence Detail 534 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      Genomic 2
      cDNA 19
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1398, MGD-MRK-1399, MGD-MRK-1400, MGD-MRK-1401, MGD-MRK-1403, MGD-MRK-1404, MGD-MRK-1405, MGD-MRK-1406, MGD-MRK-1429, MGD-MRK-1434, MGI:1919034, MGI:2145257, MGI:88073, MGI:88074, MGI:88076
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 10
      Phenotypes 22
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:343559 Hwang-Wong E, et al., Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development. JCI Insight. 2023 Nov 8;8(21)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory