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    SACS sacsin molecular chaperone [ Homo sapiens (human) ]

    Gene ID: 26278, updated on 20-Feb-2017
    Official Symbol
    SACSprovided by HGNC
    Official Full Name
    sacsin molecular chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:10519
    See related
    Ensembl:ENSG00000151835 MIM:604490; Vega:OTTHUMG00000016562
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPAX6; ARSACS; DNAJC29; PPP1R138
    Summary
    This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    13q12.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (23328823..23433728, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (23902962..24007867, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan gamma Neighboring gene SDA1 domain containing 1 pseudogene 4 Neighboring gene uncharacterized LOC107984585 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 13 Neighboring gene SACS antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 327 Neighboring gene TNF receptor superfamily member 19 Neighboring gene uncharacterized LOC105370114

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Spastic ataxia Charlevoix-Saguenay type
    MedGen: C1849140 OMIM: 270550 GeneReviews: ARSACS
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    NHGRI GWA Catalog
    Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
    NHGRI GWA Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686B15167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Hsp70 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    chaperone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteasome binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of inclusion body assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    axon TAS
    Traceable Author Statement
    more info
    PubMed 
    cell body fiber TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    sacsin
    Names
    dnaJ homolog subfamily C member 29
    protein phosphatase 1, regulatory subunit 138
    spastic ataxia of Charlevoix-Saguenay (sacsin)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012342.1 RefSeqGene

      Range
      4975..109880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278055.1NP_001264984.1  sacsin isoform 2

      See identical proteins and their annotated locations for NP_001264984.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, lacks a segment of the 5' coding region and initiates translation at an in-frame downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1 at the N-terminus.
      Source sequence(s)
      AK125458, AL157766, DB309987
      Conserved Domains (2) summary
      smart00748
      Location:43044420
      HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
      cl02542
      Location:41754213
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    2. NM_014363.5NP_055178.3  sacsin isoform 1

      See identical proteins and their annotated locations for NP_055178.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK125458, AL157766, AW295072, AW296712, DB213398, DB309987
      Consensus CDS
      CCDS9300.2
      UniProtKB/Swiss-Prot
      Q9NZJ4
      Related
      ENSP00000371729, OTTHUMP00000018109, ENST00000382292, OTTHUMT00000044148
      Conserved Domains (3) summary
      cd01769
      Location:1960
      UBL; Ubiquitin-like domain of UBL
      smart00748
      Location:44514567
      HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
      cl02542
      Location:43224360
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      23328823..23433728 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266338.2XP_005266395.1  sacsin isoform X1

      Conserved Domains (3) summary
      cd01769
      Location:1960
      UBL; Ubiquitin-like domain of UBL
      smart00748
      Location:44604576
      HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
      cl02542
      Location:43314369
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    2. XM_017020539.1XP_016876028.1  sacsin isoform X3

    3. XM_011535039.2XP_011533341.1  sacsin isoform X2

      Conserved Domains (3) summary
      cd01769
      Location:1657
      UBL; Ubiquitin-like domain of UBL
      smart00748
      Location:44574573
      HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
      cl02542
      Location:43284366
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      23871558..23976445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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