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OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)

Identity

Other namesARHGEF30
UNC89
HGNC (Hugo) OBSCN
LocusID (NCBI) 84033
Location 1q42.13
Location_base_pair Starts at 228395831 and ends at 228566575 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)OBSCN   15719
Cards
Entrez_Gene (NCBI)OBSCN  84033  obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
GeneCards (Weizmann)OBSCN
Ensembl (Hinxton)ENSG00000154358 [Gene_View]  chr1:228395831-228566575 [Contig_View]  OBSCN [Vega]
ICGC DataPortalENSG00000154358
AceView (NCBI)OBSCN
Genatlas (Paris)OBSCN
WikiGenes84033
SOURCE (Princeton)NM_001098623 NM_001271223 NM_052843
Genomic and cartography
GoldenPath (UCSC)OBSCN  -  1q42.13   chr1:228395831-228566575 +  1q42.13   [Description]    (hg19-Feb_2009)
EnsemblOBSCN - 1q42.13 [CytoView]
Mapping of homologs : NCBIOBSCN [Mapview]
OMIM608616   
Gene and transcription
Genbank (Entrez)AB046776 AB046859 AJ002535 AK024186 AK097489
RefSeq transcript (Entrez)NM_001098623 NM_001271223 NM_052843
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_032122 NT_167186 NW_001838544 NW_004929294
Consensus coding sequences : CCDS (NCBI)OBSCN
Cluster EST : UnigeneHs.656999 [ NCBI ]
CGAP (NCI)Hs.656999
Alternative Splicing : Fast-db (Paris)GSHG0001514
Alternative Splicing GalleryENSG00000154358
Gene ExpressionOBSCN [ NCBI-GEO ]     OBSCN [ SEEK ]   OBSCN [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VST9 (Uniprot)
NextProtQ5VST9  [Medical]
With graphics : InterProQ5VST9
Splice isoforms : SwissVarQ5VST9 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    FN3 (PS50853)    IG_LIKE (PS50835)    IQ (PS50096)    PH_DOMAIN (PS50003)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)DH-domain    Fibronectin_type3    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    IQ_motif_EF-hand-BS    Kinase-like_dom    Obscurin-myosin_light-ch_kin    PH_like_dom    Pleckstrin_homology    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase_dom    Ser/Thr_kinase_AS    SH3_domain    Tyr_kinase_AS   
Related proteins : CluSTrQ5VST9
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    IQ (PF00612)    Pkinase (PF00069)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam00612    pfam00069    pfam00621   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  IQ (SM00015)  PH (SM00233)  S_TKc (SM00220)  SH3 (SM00326)  
DMDM Disease mutations84033
Blocks (Seattle)Q5VST9
PDB (SRS)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2YZ8   
PDB (PDBSum)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2YZ8   
PDB (IMB)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2YZ8   
PDB (RSDB)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2YZ8   
Human Protein AtlasENSG00000154358
Peptide AtlasQ5VST9
HPRD08594
IPIIPI00288940   IPI00742748   IPI00744119   IPI00479915   IPI00854629   IPI00953396   IPI00016383   IPI00641787   
Protein Interaction databases
DIP (DOE-UCLA)Q5VST9
IntAct (EBI)Q5VST9
FunCoupENSG00000154358
BioGRIDOBSCN
InParanoidQ5VST9
Interologous Interaction database Q5VST9
IntegromeDBOBSCN
STRING (EMBL)OBSCN
Ontologies - Pathways
Ontology : AmiGOprotein serine/threonine kinase activity  protein tyrosine kinase activity  Rho guanyl-nucleotide exchange factor activity  protein binding  calmodulin binding  ATP binding  cytosol  small GTPase mediated signal transduction  multicellular organismal development  structural constituent of muscle  peptidyl-tyrosine phosphorylation  myofibril  Z disc  ankyrin binding  M band  titin binding  positive regulation of Rho GTPase activity  protein localization to M-band  positive regulation of apoptotic process  sarcomere organization  metal ion binding  neurotrophin TRK receptor signaling pathway  regulation of small GTPase mediated signal transduction  apoptotic signaling pathway  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein tyrosine kinase activity  Rho guanyl-nucleotide exchange factor activity  protein binding  calmodulin binding  ATP binding  cytosol  small GTPase mediated signal transduction  multicellular organismal development  structural constituent of muscle  peptidyl-tyrosine phosphorylation  myofibril  Z disc  ankyrin binding  M band  titin binding  positive regulation of Rho GTPase activity  protein localization to M-band  positive regulation of apoptotic process  sarcomere organization  metal ion binding  neurotrophin TRK receptor signaling pathway  regulation of small GTPase mediated signal transduction  apoptotic signaling pathway  
Protein Interaction DatabaseOBSCN
Wikipedia pathwaysOBSCN
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)OBSCN
SNP (GeneSNP Utah)OBSCN
SNP : HGBaseOBSCN
Genetic variants : HAPMAPOBSCN
1000_GenomesOBSCN 
ICGC programENSG00000154358 
CONAN: Copy Number AnalysisOBSCN 
Somatic Mutations in Cancer : COSMICOBSCN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Mutations and Diseases : HGMDOBSCN
OMIM608616   
MedgenOBSCN
GENETestsOBSCN
Disease Genetic AssociationOBSCN
Huge Navigator OBSCN [HugePedia]  OBSCN [HugeCancerGEM]
Genomic VariantsOBSCN  OBSCN [DGVbeta]
Exome VariantOBSCN
dbVarOBSCN
ClinVarOBSCN
snp3D : Map Gene to Disease84033
General knowledge
Homologs : HomoloGeneOBSCN
Homology/Alignments : Family Browser (UCSC)OBSCN
Phylogenetic Trees/Animal Genes : TreeFamOBSCN
Chemical/Protein Interactions : CTD84033
Chemical/Pharm GKB GenePA31888
Clinical trialOBSCN
Cancer Resource (Charite)ENSG00000154358
Other databases
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
CoreMineOBSCN
iHOPOBSCN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:05:45 CEST 2014

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