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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
Gene Tree: Sacs
Alleles
and
phenotypes
All alleles(4) : Targeted(1) Gene trapped(3)
Gene Ontology
(GO)
classifications
All GO classifications: (3 annotations)
Component cytoplasm
Function ATP binding, low-density lipoprotein particle receptor binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (31)    Tissues (5)    Images (20)
Theiler Stages: 23
Assay TypeResults
RNA in situ 31
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(7) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000029987 (Evidence)
Ensembl Gene ModelENSMUSG00000048279 (Evidence)
Entrez Gene50720 (Evidence)
DFCITC1590447, TC1595410, TC1597367, TC1607541
DoTSDT.101354238, DT.110766123, DT.40176736, DT.91333342, DT.91388762
Consensus CDS ProjectCCDS27180.1
International Mouse Knockout Project StatusSacs
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(27)
Other
accession IDs
MGI:2442021

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory