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Sgsh Gene Detail
Summary
  • Symbol
    Sgsh
  • Name
    N-sulfoglucosamine sulfohydrolase (sulfamidase)
  • Synonyms
    4632406A19Rik, sulphamidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1350341
    NCBI Gene: 27029
  • Gene Overview
    MyGene.info: SGSH
Location & Maps
more
  • Sequence Map
    Chr11:119343425-119355536 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      12112 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 83.36 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SGSH, N-sulfoglucosamine sulfohydrolase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SGSH, N-sulfoglucosamine sulfohydrolase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HSS, MPS3A, SFMD
  • Links
    NCBI Gene ID: 6448
    neXtProt AC: NX_P51688

  • Chr Location
    17q25.3; chr17:80206966-80220400 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 167
    1 human;1 mouse;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SGSH
  • Gene Tree
    Sgsh
Human Diseases
more
  • Diseases
    1 with Sgsh mouse models; 1 with human SGSH associations

Human Disease Mouse Models
       Mucopolysaccharidosis, Type IIIA; MPS3A   OMIM: 252900 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    23 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.
  • All Mutations and Alleles
    3
  • Endonuclease-mediated
    1
  • Spontaneous
    1
  • Targeted
    1
  • Incidental Mutations
    Mutagenetix , APF
Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    3
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
    96
  • Tissues
    96
  • cDNA Data
    28
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003911 VEGA Gene Model | MGI Sequence Detail 12112 C57BL/6J ±  kb
transcript OTTMUST00000008669 VEGA | MGI Sequence Detail 4357 Not Applicable  
polypeptide OTTMUSP00000004222 VEGA | MGI Sequence Detail 502 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    127 from dbSNP Build 142
  • PCR
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    cDNA 28
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2443648
References
more
  • Summaries
    All 50
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 3
    Phenotypes 23
  • Earliest
    J:72142 Bhaumik M, et al., A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology. 1999 Dec;9(12):1389-96
  • Latest
    J:220837 Beard H, et al., Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice. Mol Genet Metab. 2015 May;115(1):33-40
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory