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DSC1 (desmocollin 1)

Identity

Other namesCDHF1
DG2/DG3
HGNC (Hugo) DSC1
Location 18q12.1
Location_base_pair Starts at 26963214 and ends at 26996817 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 (Hugo)DSC1   3035
Entrez_Gene (NCBI)DSC1  1823  desmocollin 1
Cards
GeneCards (Weizmann)DSC1
Ensembl (Hinxton)ENSG00000134765 [Gene_View]  DSC1 [Vega]
AceView (NCBI)DSC1
Genatlas (Paris)DSC1
euGene (Indiana)1823
SOURCE (Stanford)NM_004948 NM_024421
Gene Expression (Array Express) ENSG00000134765
Genomic and cartography
GoldenPath (UCSC)DSC1  -  18q12.1   chr18:26963214-26996817 -  18q12.1   [Description]    (hg18-March_2006)
EnsemblDSC1 - 18q12.1 [CytoView]
Mapping of homologs : NCBIDSC1 [Mapview]
OMIM125643   
Gene and transcription
Gene : Genbank (Entrez)BC148349 CU444724 CU447407 X72925 X72925
Reference sequence (RefSeq transcript) :SRSNM_004948 NM_024421
Reference transcript : EntrezNM_004948 NM_024421
RefSeq genomic : SRSAC_000061 AC_000150 NC_000018 NT_010966 NW_001838467 NW_927095
RefSeq genomic : EntrezAC_000061 AC_000150 NC_000018 NT_010966 NW_001838467 NW_927095
Consensus coding sequences : CCDS NCBIDSC1
Cluster EST : UnigeneHs.567260 [ SRS ] Hs.567260 [ NCBI ]
Alternative Splicing : Fast-db (Paris)2989
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ08554 (SRS) Q08554 (Expasy) Q08554 (Uniprot)
With graphics : InterProQ08554
Splice isoforms : VarSplice FASTAQ08554(VarSplice FASTA)
Domaine pattern : Prosite (SRS)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domain pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (SRS)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro    Desmo_cadherin    Desmocollin   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro    Desmo_cadherin    Desmocollin   
Related proteins : CluSTrQ08554
Domain families : Pfam SRSCadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam SangerCadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam NCBIpfam00028    pfam01049    pfam08758   
Domain families : Smart EMBLCA (SM00112)  
Blocks (Seattle)Q08554
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD00511
Protein Interaction databases
DIP (DOE-UCLA)Q08554
IntAct (EBI)Q08554
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIDSC1
SNP : GeneSNP UtahDSC1
SNP : HGBaseDSC1
Genetic variants : HAPMAPDSC1
Somatic Mutations in Cancer : COSMICDSC1 
Mutations and Diseases : HGMDDSC1
Hereditary diseases : OMIM125643   
Hereditary diseases : GENETests125643   
Diseases : Genetic AssociationDSC1
General knowledge
Homologs : HomoloGeneDSC1
Homology/Alignments : Family Browser UCSCDSC1
Phylogenetic Trees/Animal Genes : TreeFamDSC1
Chemical/Protein Interactions : CTD1823
Keywords Ontology : AmiGOcalcium ion binding  protein binding  membrane fraction  plasma membrane  gap junction  cell adhesion  homophilic cell adhesion  integral to membrane  cell junction  desmosome  
Keywords Ontology : EGO-EBIcalcium ion binding  protein binding  membrane fraction  plasma membrane  gap junction  cell adhesion  homophilic cell adhesion  integral to membrane  cell junction  desmosome  
Pathways : BIOCARTA
Pathways : KEGGCell Communication
Other databases
Probes
Probes : ImagenesDSC1 Related clones (RZPD - Berlin)
Literature
PubMed23 Pubmed reference(s) in Entrez
PubGeneDSC1
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
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:33:34 CET 2010
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