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SOX1 (SRY (sex determining region Y)-box 1)

Identity

Other names-
HGNC (Hugo) SOX1
LocusID (NCBI) 6656
Location 13q34
Location_base_pair Starts at 112721913 and ends at 112726020 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)SOX1   11189
Entrez_Gene (NCBI)SOX1  6656  SRY (sex determining region Y)-box 1
Cards
GeneCards (Weizmann)SOX1
Ensembl (Hinxton)ENSG00000182968 [Gene_View]  chr13:112721913-112726020 [Contig_View]  SOX1 [Vega]
AceView (NCBI)SOX1
Genatlas (Paris)SOX1
SOURCE (Stanford)NM_005986
Genomic and cartography
GoldenPath (UCSC)SOX1  -  13q34   chr13:112721913-112726020 +  13q34   [Description]    (hg19-Feb_2009)
EnsemblSOX1 - 13q34 [CytoView]
Mapping of homologs : NCBISOX1 [Mapview]
OMIM602148   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (SRS)NM_005986
RefSeq transcript (Entrez)NM_005986
RefSeq genomic (SRS)AC_000145 NC_000013 NC_018924 NT_027140 NW_001838085 NW_004078078
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NT_027140 NW_001838085 NW_004078078
Consensus coding sequences : CCDS (NCBI)SOX1
Cluster EST : UnigeneHs.202526 [ SRS ] Hs.202526 [ NCBI ]
CGAP (NCI)Hs.202526
Alternative Splicing : Fast-db (Paris)GSHG0036543
Alternative Splicing GalleryENSG00000182968
Gene ExpressionSOX1 [ NCBI-GEO ]   SOX1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00570 (SRS) O00570 (Uniprot)
NextProtO00570
With graphics : InterProO00570
Splice isoforms : SwissVarO00570(Swissvar)
Domaine pattern : Prosite (SRS)HMG_BOX_2 (PS50118)   
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (SRS)HMG_superfamily    TF_SOX   
Domains : Interpro (EBI)HMG_superfamily    TF_SOX   
Related proteins : CluSTrO00570
Domain families : Pfam (SRS)HMG_box (PF00505)    SOXp (PF12336)   
Domain families : Pfam (Sanger)HMG_box (PF00505)    SOXp (PF12336)   
Domain families : Pfam (NCBI)pfam00505    pfam12336   
Domain families : Smart (EMBL)HMG (SM00398)  
DMDM6656
Blocks (Seattle)O00570
Human Protein AtlasENSG00000182968
HPRD03687
IPIIPI00012162   
Protein Interaction databases
DIP (DOE-UCLA)O00570
IntAct (EBI)O00570
FunCoupENSG00000182968
REACTOMESOX1
Protein Interaction Database6656
BioGRIDSOX1
InParanoidO00570
Interologous Interaction database O00570
IntegromeDBSOX1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SOX1
SNP (GeneSNP Utah)SOX1
SNP : HGBaseSOX1
Genetic variants : HAPMAPSOX1
Somatic Mutations in Cancer : COSMICSOX1 
CONAN: Copy Number AnalysisSOX1 
Mutations and Diseases : HGMDSOX1
OMIM602148   
GENETests602148   
Disease Genetic AssociationSOX1
Huge Navigator SOX1 [HugePedia]  SOX1 [HugeCancerGEM]
Genomic VariantsSOX1  SOX1 [DGVbeta]
snp3D : Map Gene to Disease6656
General knowledge
Homologs : HomoloGeneSOX1
Homology/Alignments : Family Browser (UCSC)SOX1
Phylogenetic Trees/Animal Genes : TreeFamSOX1
Chemical/Protein Interactions : CTD6656
Chemical/Pharm GKB GenePA36026
Clinical trialSOX1
Cancer Resource (Charite)ENSG00000182968
Ontology : AmiGOcore promoter sequence-specific DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  chromatin organization  transcription, DNA-dependent  regulation of transcription, DNA-dependent  
Ontology : EGO-EBIcore promoter sequence-specific DNA binding  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  chromatin organization  transcription, DNA-dependent  regulation of transcription, DNA-dependent  
Other databases
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
PubGeneSOX1
iHOPSOX1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:19:58 CEST 2013

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