SACS (spastic ataxia of Charlevoix-Saguenay (sacsin))

Identity

Other names	ARSACS
	DKFZp686B15167
HGNC	SACS
Location	13q11
Location_base_pair	Starts at 22800965 and ends at 22905841 bp from pter ( according to hg18-March_2006).
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	SACS   10519
Entrez_Gene	SACS  26278  spastic ataxia of Charlevoix-Saguenay (sacsin)
	Cards
GeneCards	SACS
Ensembl	SACS [Search_View]   ENSG00000151835 [Gene_View]
Genatlas	SACS
GeneLynx	SACS
eGenome	SACS
euGene	26278
	Genomic and cartography
GoldenPath	SACS  -  13q11   chr13:22800965-22905841 -  13q12.12   [Description]    (hg18-March_2006)
Ensembl	SACS - 13q12.12 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SACS
	Gene and transcription
Genbank	AB018273 [ ENTREZ ]
Genbank	AK024708 [ ENTREZ ]
Genbank	AK090599 [ ENTREZ ]
Genbank	AK125458 [ ENTREZ ]
Genbank	BC039418 [ ENTREZ ]
RefSeq	NM_014363 [ SRS ]    NM_014363 [ ENTREZ ]
RefSeq	AC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeq	AC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
RefSeq	NC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeq	NT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeq	NW_001838070 [ SRS ]    NW_001838070 [ ENTREZ ]
RefSeq	NW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
AceView	SACS AceView - NCBI
Unigene	Hs.159492 [ SRS ]    Hs.159492 [ NCBI ]     HS159492 [ spliceNest ]
Fast-db	864 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q9NZJ4 [ SRS]    Q9NZJ4 [ EXPASY ]     Q9NZJ4 [ INTERPRO ]     Q9NZJ4 [ UNIPROT ]
Prosite	PS00636 DNAJ_1 [ SRS ]    PS00636 DNAJ_1 [ Expasy ]
Prosite	PS50076 DNAJ_2 [ SRS ]    PS50076 DNAJ_2 [ Expasy ]
Prosite	PS50910 HEPN [ SRS ]    PS50910 HEPN [ Expasy ]
Prosite	PS50053 UBIQUITIN_2 [ SRS ]    PS50053 UBIQUITIN_2 [ Expasy ]
Interpro	IPR001623 DnaJ_N [ SRS ]    IPR001623 DnaJ_N [ EBI ]
Interpro	IPR007842 HEPN [ SRS ]    IPR007842 HEPN [ EBI ]
Interpro	IPR000626 Ubiquitin [ SRS ]    IPR000626 Ubiquitin [ EBI ]
CluSTr	Q9NZJ4
Pfam	PF05168 HEPN [ SRS ]    PF05168 HEPN [ Sanger ]    pfam05168 [ NCBI-CDD ]
Pfam	PF00240 ubiquitin [ SRS ]    PF00240 ubiquitin [ Sanger ]    pfam00240 [ NCBI-CDD ]
Smart	SM00271 DnaJ [EMBL]
Smart	SM00748 HEPN [EMBL]
Blocks	Q9NZJ4
PDB	1IUR [ SRS ]    1IUR [ PdbSum ],   1IUR [ IMB ]   1IUR [ RSDB ]
HPRD	05135
	Protein Interaction databases
DIP	Q9NZJ4
IntAct	Q9NZJ4
	Polymorphism : SNP, mutations, diseases
OMIM	270550;604490    [ map ]
GENECLINICS	270550;604490
SNP	SACS [dbSNP-NCBI]
SNP	NM_014363 [SNP-NCI]
SNP	SACS [GeneSNPs - Utah]  SACS] [HGBASE - SRS]
HAPMAP	SACS [HAPMAP]
COSMIC	SACS [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	SACS
	General knowledge
Family Browser	SACS [UCSC Family Browser]
SOURCE	NM_014363
SMD	Hs.159492
SAGE	Hs.159492
GO	molecular_function [Amigo]  molecular_function
GO	ATP binding [Amigo]  ATP binding
GO	cellular_component [Amigo]  cellular_component
GO	protein folding [Amigo]  protein folding
GO	protein modification process [Amigo]  protein modification process
GO	heat shock protein binding [Amigo]  heat shock protein binding
PubGene	SACS
TreeFam	SACS
CTD	26278 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SACS Related clones (RZPD - Berlin)
	PubMed
PubMed	16 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 15:00:37 2008