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FLASH GENE
Symbol SACS contributors: mct/npt/pgu/shn - updated : 04-05-2012
HGNC name spastic ataxia of Charlevoix-Saguenay (sacsin)
HGNC id 10519
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two a head shock protein (HSP90) homology domains in the N terminal region, and a putative ubiquitin-like (UbL) domain for an interaction with the proteasome
  • two leucine zippers
  • a sacsin repeat region
  • seven nuclear localization signals (NLS)
  • three coiled-coils and one hydrophilic domain within the carboxy terminal half of the protein and a DNAJ motif at the C terminus, and an HEPN (higher eukaryotes and prokaryotes nucleotide-binding) domain that dimerizes and contains a high-affinity binding site for GTP, and also contains a protein-protein interaction J-domain, the defining feature of DnaJ/Hsp40 proteins
    • secondary structure
  • five parallel alpha-helices with a large loop of several short helical segments
    • HOMOLOGY
    interspecies ortholog to Sacs, Mus musculus
    ortholog to Sacs, Rattus norvegicus
    ortholog to SACS, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    text
  • predominantly cytoplasmic with a mitochondrial component
  • associated with mitochondria and may play a role in mitochondrial quality control, as observed for other proteins associated with neurodegenerative diseases
    • basic FUNCTION
  • may be functioning in chaperone-mediated protein folding
  • may integrate the ubiquitin–proteasome system and Hsp70 function to a specific cellular role
  • regulator of the Hsp70 chaperone machinery that is implicated in the processing of other ataxia-linked proteins
  • may act as a molecular scaffold for assembly of a specific protein complex and regulation of this complex requires integration of molecular chaperone machinery and the ubiquitin–proteasome systems (UPS)
  • role for sacsin in regulation of mitochondrial dynamics
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potential substrate of the ubiquitin ligase UBE3A responsible for Angelman syndrome
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SACS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS