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Sacs
Gene Detail
Symbol

Name
ID
Sacs
sacsin
MGI:1354724
Synonyms
E130115J16Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 14
32.13 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:61138457-61240695 bp, + strand
From VEGA annotation of GRCm38

  102239 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HCOP human homology predictions: SACS
Gene Tree: Sacs
Human
homologs
SACS, sacsin molecular chaperone
Orthology source: HGNC

IDs:
NCBI Gene ID: 26278
neXtProt AC: NX_Q9NZJ4

Human Synonyms: ARSACS, DNAJC29, PPP1R138, SPAX6

Human Chr (Location): 13q12; chr13:23328823-23433728 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SACS

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(3) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Sacs interacts with 282 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (2 annotations)
Component cytoplasm
Function low-density lipoprotein particle receptor binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (31)    Tissues (5)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 31
cDNA source data(6)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sacs    NEW 
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(7) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000029987 (Evidence)
Ensembl Gene Model ENSMUSG00000048279 (Evidence)
Entrez Gene 50720 (Evidence)
DFCI TC1590447, TC1597367, TC1595410, TC1607541
DoTS DT.101354238, DT.40176736, DT.110766123, DT.91388762, DT.91333342
Consensus CDS Project CCDS27180.1
International Mouse Phenotyping Consortium Status Sacs
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029987 VEGA Gene Model | MGI Sequence Detail 102239 C57BL/6J ±  kb
transcript OTTMUST00000074366 VEGA | MGI Sequence Detail 14991 Not Applicable 
polypeptide OTTMUSP00000038686 VEGA | MGI Sequence Detail 4582 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(11) UniProt(5)
Polymorphisms
SNPs within 2kb(728 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001623 DnaJ domain
InterPro IPR007842 HEPN
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
Protein Ontology PR:000014430 sacsin
References
(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:182034 Girard M, et al., Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6
All references(26)
Other
accession IDs
MGI:2442021

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
06/23/2015
MGI 5.22
The Jackson Laboratory