Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SACS contributors: mct/npt/pgu/shn - updated : 04-05-2012
HGNC name spastic ataxia of Charlevoix-Saguenay (sacsin)
HGNC id 10519
Corresponding disease
SACS spastic ataxia of Charlevoix-Saguenay
Location 13q12.12      Physical location : 23.902.964 - 24.007.841
Synonym name
  • sacsin
  • dnaJ homolog subfamily C member 29
  • Synonym symbol(s) KIAA0730, ARSACS, DKFZp686B15167, DNAJC29
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 104.88 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    text structure a gigantic exon and an other
    MAPPING cloned Y linked N status provisional
    Map cen - D13S1275 - D13S232 - SACS SACS - D13S292 - D13S1243 - qter
    Physical map
    LOC387903 13 LOC387903 ESTRRA 13q12.11 estrogen-related receptor alpha pseudogene LOC387904 13 similar to hypothetical protein GPRK6P 13pter-q21 G protein-coupled receptor kinase 6 pseudogene LOC387905 13 LOC387905 FLJ25952 13q12.11 hypothetical protein FLJ25952 LOC387906 13 similar to RIKEN cDNA 5033406L14 LOC390382 13 similar to histone 1, H2bc; H2B histone family, member S FLJ34588 13q12.11 Smhs2 homolog (rat) LOC387907 13 similar to bA271B5.1 (similar to ribosomal protein S7) FGF9 13q11-q12 fibroblast growth factor 9 (glia-activating factor) LOC387908 13 similar to Ferritin heavy chain (Ferritin H subunit) LOC390383 13 similar to inositol polyphosphate multikinase LOC387909 13 hypothetical gene supported by AK130366 LOC283530 13q12.12 hypothetical LOC283530 LOC387910 13 LOC387910 SGCG 13q12 sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) SACS 13q12 spastic ataxia of Charlevoix-Saguenay (sacsin) TNFRSF19 13q12.11-q12.3 tumor necrosis factor receptor superfamily, member 19 MIPEP 13q12 mitochondrial intermediate peptidase LOC387911 13 similar to hypothetical protein MGC48915 LOC390384 13 similar to hypothetical protein DKFZp434A171 SPATA13 13q12.13 spermatogenesis associated 13 MGC48915 13q12.13 hypothetical protein MGC48915 LOC390385 13 similar to hypothetical protein, MGC:7199 HCP33 13q12.13 cytochrome c, somatic pseudogene ADPRTL1 13q11 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 LOC387912 13 similar to TPTE and PTEN homologous inositol lipid phosphatase ATP12A 13q12.1-q12.3 ATPase, H+/K+ transporting, nongastric, alpha polypeptide LOC390386 13 similar to hypothetical protein DKFZp434A171 RNF17 13q12 ring finger protein 17 TDRD4 13q12.12 tudor domain containing 4 CENPJ 13q12.13 centromere protein J LOC387913 13 similar to TPTE and PTEN homologous inositol lipid phosphatase LOC390387 13 similar to Striatin PABPC3 13q11-q12 poly(A) binding protein, cytoplasmic 3 FLJ25477 13q12.13 hypothetical protein FLJ25477 MTMR6 13q12 myotubularin related protein 6 NUPL1 13q12.12 nucleoporin like 1 LOC246717 13q12 transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B) pseudogene ATP8A2 13q12-13 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 15639 520 4579 cortex, cerebellum and midbrain - 19208651
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly Homo sapiens
     braindiencephalonamygdala  
     spinal cord   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye: lens, anterior segment, optic nerve, retina
    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