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SACS sacsin molecular chaperone [ Homo sapiens (human) ]

Gene ID: 26278, updated on 4-May-2015
Official Symbol
SACSprovided by HGNC
Official Full Name
sacsin molecular chaperoneprovided by HGNC
Primary source
HGNC:HGNC:10519
See related
Ensembl:ENSG00000151835; HPRD:05135; 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
See SACS in MapViewer
Location:
13q12
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 (35kDa dystrophin-associated glycoprotein) Neighboring gene TatD DNase domain containing 2 pseudogene 3 Neighboring gene SDA1 domain containing 1 pseudogene 4 Neighboring gene ribosomal protein, large, P1 pseudogene 13 Neighboring gene SACS antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 327 Neighboring gene tumor necrosis factor receptor superfamily, member 19 Neighboring gene uncharacterized LOC105370114

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spastic ataxia Charlevoix-Saguenay type
MedGen: C1849140 OMIM: 270550 GeneReviews: ARSACS
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NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
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
sacsin
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
    smart00271
    Location:41754213
    DnaJ; DnaJ molecular chaperone homology domain
    smart00748
    Location:43044420
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
  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
    ENSP00000371735, ENST00000382298
    Conserved Domains (3) summary
    cd01769
    Location:1960
    UBL; Ubiquitin-like domain of UBL
    smart00271
    Location:43224360
    DnaJ; DnaJ molecular chaperone homology domain
    smart00748
    Location:44514567
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266338.1XP_005266395.1  

    Conserved Domains (3) summary
    cd01769
    Location:1960
    UBL; Ubiquitin-like domain of UBL
    smart00271
    Location:43314369
    DnaJ; DnaJ molecular chaperone homology domain
    smart00748
    Location:44604576
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
  2. XM_011535038.1XP_011533340.1  

    Conserved Domains (3) summary
    cd01769
    Location:2768
    UBL; Ubiquitin-like domain of UBL
    smart00271
    Location:43394377
    DnaJ; DnaJ molecular chaperone homology domain
    smart00748
    Location:44684584
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain
  3. XM_011535039.1XP_011533341.1  

    Conserved Domains (3) summary
    cd01769
    Location:1657
    UBL; Ubiquitin-like domain of UBL
    smart00271
    Location:43284366
    DnaJ; DnaJ molecular chaperone homology domain
    smart00748
    Location:44574573
    HEPN; Higher Eukarytoes and Prokaryotes Nucleotide-binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

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