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SACS (sacsin molecular chaperone)

Identity

Other namesARSACS
DNAJC29
PPP1R138
SPAX6
HGNC (Hugo) SACS
LocusID (NCBI) 26278
Location 13q12.12
Location_base_pair Starts at 23902962 and ends at 23949682 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SACS   10519
Cards
Entrez_Gene (NCBI)SACS  26278  sacsin molecular chaperone
GeneCards (Weizmann)SACS
Ensembl (Hinxton)ENSG00000151835 [Gene_View]  chr13:23902962-23949682 [Contig_View]  SACS [Vega]
ICGC DataPortalENSG00000151835
cBioPortalSACS
AceView (NCBI)SACS
Genatlas (Paris)SACS
WikiGenes26278
SOURCE (Princeton)NM_001278055 NM_014363
Genomic and cartography
GoldenPath (UCSC)SACS  -  13q12.12   chr13:23902962-23949682 -  13q12.12   [Description]    (hg19-Feb_2009)
EnsemblSACS - 13q12.12 [CytoView]
Mapping of homologs : NCBISACS [Mapview]
OMIM270550   604490   
Gene and transcription
Genbank (Entrez)AB018273 AK024708 AK090599 AK125458 AW295072
RefSeq transcript (Entrez)NM_001278055 NM_014363
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_012342 NT_024524 NW_001838070 NW_004929388
Consensus coding sequences : CCDS (NCBI)SACS
Cluster EST : UnigeneHs.159492 [ NCBI ]
CGAP (NCI)Hs.159492
Alternative Splicing : Fast-db (Paris)GSHG0008353
Alternative Splicing GalleryENSG00000151835
Gene ExpressionSACS [ NCBI-GEO ]     SACS [ SEEK ]   SACS [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZJ4 (Uniprot)
NextProtQ9NZJ4  [Medical]
With graphics : InterProQ9NZJ4
Splice isoforms : SwissVarQ9NZJ4 (Swissvar)
Domaine pattern : Prosite (Expaxy)DNAJ_2 (PS50076)    HEPN (PS50910)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)DnaJ_domain [organisation]   HATPase_ATP-bd [organisation]   HEPN [organisation]   Ubiquitin-like [organisation]   Ubiquitin-rel_dom [organisation]  
Related proteins : CluSTrQ9NZJ4
Domain families : Pfam (Sanger)HEPN (PF05168)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam05168    pfam00240   
Domain families : Smart (EMBL)DnaJ (SM00271)  HEPN (SM00748)  
DMDM Disease mutations26278
Blocks (Seattle)Q9NZJ4
PDB (SRS)1IUR    3O10   
PDB (PDBSum)1IUR    3O10   
PDB (IMB)1IUR    3O10   
PDB (RSDB)1IUR    3O10   
Human Protein AtlasENSG00000151835 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9NZJ4
HPRD05135
IPIIPI00795015   IPI00784002   IPI00871261   IPI01009120   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZJ4
IntAct (EBI)Q9NZJ4
FunCoupENSG00000151835
BioGRIDSACS
InParanoidQ9NZJ4
Interologous Interaction database Q9NZJ4
IntegromeDBSACS
STRING (EMBL)SACS
Ontologies - Pathways
Ontology : AmiGOATP binding  nucleus  cytoplasm  mitochondrion  protein folding  cell death  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
Ontology : EGO-EBIATP binding  nucleus  cytoplasm  mitochondrion  protein folding  cell death  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
Protein Interaction DatabaseSACS
Wikipedia pathwaysSACS
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SACS
snp3D : Map Gene to Disease26278
SNP (GeneSNP Utah)SACS
SNP : HGBaseSACS
Genetic variants : HAPMAPSACS
Exome VariantSACS
1000_GenomesSACS 
ICGC programENSG00000151835 
Somatic Mutations in Cancer : COSMICSACS 
CONAN: Copy Number AnalysisSACS 
Mutations and Diseases : HGMDSACS
Mutations and Diseases : intOGenSACS
Genomic VariantsSACS  SACS [DGVbeta]
dbVarSACS
ClinVarSACS
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM270550    604490   
MedgenSACS
GENETestsSACS
Disease Genetic AssociationSACS
Huge Navigator SACS [HugePedia]  SACS [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSACS
Homology/Alignments : Family Browser (UCSC)SACS
Phylogenetic Trees/Animal Genes : TreeFamSACS
Chemical/Protein Interactions : CTD26278
Chemical/Pharm GKB GenePA34927
Clinical trialSACS
Cancer Resource (Charite)ENSG00000151835
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineSACS
iHOPSACS
OncoSearchSACS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 19:16:26 CEST 2014

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