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Sacs Gene Detail
Summary
  • Symbol
    Sacs
  • Name
    sacsin
  • Synonyms
    E130115J16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354724
    NCBI Gene: 50720
  • Gene Overview
    MyGene.info: SACS
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:61138457-61240695 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      102239 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 32.13 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SACS, sacsin molecular chaperone
  • Human Ortholog
    SACS, sacsin molecular chaperone
    Orthology source: HGNC
  • Synonyms
    ARSACS, DNAJC29, PPP1R138, SPAX6
  • Links
    NCBI Gene ID: 26278
    neXtProt AC: NX_Q9NZJ4
    UniProt: Q9NZJ4

  • Chr Location
    13q12.12; chr13:23328823-23433728 (-)  GRCh38.p7

  • HCOP
    human homology predictions: SACS
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sacs mouse models; 1 with human SACS 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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    9 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.
Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000029987 VEGA Gene Model | MGI Sequence Detail 102239 C57BL/6J ±  kb
    transcript OTTMUST00000074366 VEGA | MGI Sequence Detail 14991 Not Applicable  
    polypeptide OTTMUSP00000038686 VEGA | MGI Sequence Detail 4582 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      715 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      Genomic 1
      cDNA 7
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2442021
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 2
      Phenotypes 9
    • Earliest
      J:60133 Engert JC, et al., ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5
    • Latest
      J:243494 Duncan EJ, et al., Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory