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: (2 annotations)

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 Type	Results
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 Model	OTTMUSG00000029987 (Evidence)
Ensembl Gene Model	ENSMUSG00000048279 (Evidence)
Entrez Gene	50720 (Evidence)
DFCI	TC1590447, TC1595410, TC1597367, TC1607541
DoTS	DT.101354238, DT.110766123, DT.40176736, DT.91333342, DT.91388762
Consensus CDS Project	CCDS27180.1
International Mouse Knockout Project Status	Sacs

Sequences

Length	Strain/Species
genomic	OTTMUSG00000029987	VEGA Gene Model | MGI Sequence Detail	102239	C57BL/6J
transcript	OTTMUST00000074366	VEGA | MGI Sequence Detail	14991	Not Applicable
polypeptide	OTTMUSP00000038686	VEGA | MGI Sequence Detail	4582	Not Applicable

All sequences(50) RefSeq(3) UniProt(5)

Polymorphisms

SNPs(525 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003594	ATPase-like, ATP-binding domain
InterPro	IPR001623	Heat shock protein DnaJ, N-terminal
InterPro	IPR007842	HEPN
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