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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
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:61138457-61240695 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 32.13 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    715 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354724
protein coding gene Chr14:61138427-61240695 (.)
129S1/SvImJ MGP_129S1SvImJ_G0021437
protein coding gene Chr14:55504602-55606682 (+)
A/J MGP_AJ_G0021396
protein coding gene Chr14:54296314-54401781 (+)
AKR/J MGP_AKRJ_G0021371
protein coding gene Chr14:56232719-56338671 (+)
BALB/cJ MGP_BALBcJ_G0021401
protein coding gene Chr14:54247498-54350448 (+)
C3H/HeJ MGP_C3HHeJ_G0021179
protein coding gene Chr14:55874093-55980334 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021840
protein coding gene Chr14:58218657-58325915 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019380
protein coding gene Chr14:52308405-52408392 (+)
CAST/EiJ MGP_CASTEiJ_G0020695
protein coding gene Chr14:52269754-52378372 (+)
CBA/J MGP_CBAJ_G0021146
protein coding gene Chr14:59895140-60002193 (+)
DBA/2J MGP_DBA2J_G0021269
protein coding gene Chr14:53961390-54067016 (+)
FVB/NJ MGP_FVBNJ_G0021247
protein coding gene Chr14:53389928-53494868 (+)
LP/J MGP_LPJ_G0021343
protein coding gene Chr14:56546516-56648864 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021276
protein coding gene Chr14:59209818-59316225 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021863
protein coding gene Chr14:55386143-55490826 (+)
PWK/PhJ MGP_PWKPhJ_G0020439
protein coding gene Chr14:50631783-50734062 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020272
protein coding gene Chr14:51326904-51428300 (+)
WSB/EiJ MGP_WSBEiJ_G0020748
protein coding gene Chr14:55699615-55810694 (+)



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
less
  • 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
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.
Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000048279 Ensembl Gene Model | MGI Sequence Detail 102239 C57BL/6J ±  kb
    transcript ENSMUST00000119943 Ensembl | MGI Sequence Detail 14991 Not Applicable  
    polypeptide ENSMUSP00000113377 Ensembl | MGI Sequence Detail 4582 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      Genomic 1
      cDNA 9
      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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory