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Aliases & Descriptions for OBSCN
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp666E245 2 | | EC 2.7.11.1 3 | | FLJ14124 2 | | KIAA1556 1, 2, 3 | | KIAA1639 1, 2, 3 | | MGC120409 2 | | MGC120410 2 | | MGC120411 2 | | MGC120412 2 | | MGC138590 2 | | Obscurin-MLCK 3 | | Obscurin-RhoGEF 3 | | UNC89 1, 2 | | obscurin-MLCK 2 | | obscurin-RhoGEF 2 |
| | | Descriptions |
|---|
| Obscurin-myosin light chain kinase 3 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2 | | obscurin, myosin light chain kinase 2 |
|
| | Search outside databases for aliases for OBSCN genePrevious GC identifers: GC01P226893 GC01M224138 GC01P224855 GC01P225370 GC01P224702 |
Summaries for OBSCN(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for OBSCN: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrilsGene Wiki entry for OBSCN |
Genomic Location for OBSCN
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the OBSCN gene 
Entrez Gene cytogenetic band: 1q42.13 Ensembl cytogenetic band: 1q42.13 HGNC cytogenetic band: 1q42OBSCN Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P226462:
(about GC identifiers)
Start:
|
226,462,484 bp from pter |
End:
|
226,633,198 bp from pter |
Size:
|
170,715 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004559.13
| Proteins for OBSCN
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9 (See
protein sequence)Recommended Name: Obscurin Size: 7968 amino acids; 868484 Da
Cofactor: Magnesium (By similarity)
Subunit: Isoform 3 interacts with TTN/titin, ANK1 isoform Mu17/ank1.5, and with calmodulin in a Ca(2+)-independent manner. Associates with fast skeletal muscle myosin (By similarity)
Subcellular location: Isoform 3: Cytoplasm, myofibril, sarcomere, M-band. Cytoplasm, myofibril, sarcomere, Z-disk. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells
Caution: Initially the name obscurin was used to describe isoform 3 which lacks the kinase domains
Sequence caution: Sequence=CAC85746.1; Type=Erroneous gene model prediction; Sequence=CAC85749.1; Type=Erroneous gene model prediction; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Sequence=CAH71670.2; Type=Erroneous gene model prediction; Sequence=CAI19283.1; Type=Erroneous gene model prediction; Sequence=CAI19284.1; Type=Erroneous gene model prediction;
PDB structures from and Proteopedia :1V1C (3D)
 2CR6 (3D)
 2DKU (3D)
 2DM7 (3D)
 2E7B (3D)
 2EDF (3D)
 2EDH (3D)
 2EDL (3D)
 2EDQ (3D)
 2EDR (3D)
 2EDT (3D)
 2EDW (3D)
 2ENY (3D)
 2EO1 (3D)
 2GQH (3D)
 2YZ8 (3D)
 
Secondary accessions: Q2A664 Q5T7G8 Q5T7G9 Q5VSU2 Q86YC7 Q8NHN0 Q8NHN1 Q8NHN2 Q8NHN3 Q8NHN4 Q8NHN5 Q8NHN6 Q8NHN7 Q8NHN8 Q8NHN9 Q96AA2 Q9HCD3 Q9HCL6Alternative splicing: 6 isoforms: Q5VST9-1 Q5VST9-2 Q5VST9-3 Q5VST9-4 Q5VST9-5 Q5VST9-6 (Additional isoforms seem to exist)Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001092093.1 NP_443075.2
ENSEMBL proteins: ENSP00000355670 ENSP00000284548 ENSP00000352613 ENSP00000355667 ENSP00000355668 ENSP00000355665
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for OBSCN: Assays for OBSCN: | Protein
Domains/ Families for OBSCN(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q5VST9
ProtoNet protein and cluster: Q5VST9 3 Blocks protein families: IPB000219 DH domain IPB003598 Immunoglobulin C-2 type IPB013098 Immunoglobulin I-set
UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase familySimilarity: Contains 1 DH (DBL-homology) domainSimilarity: Contains 3 fibronectin type-III domainsSimilarity: Contains 55 Ig-like (immunoglobulin-like) domainsSimilarity: Contains 1 IQ domainSimilarity: Contains 2 PH domainsSimilarity: Contains 2 protein kinase domainsSimilarity: Contains 1 SH3 domain | Gene Function for OBSCN
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_052843
Applied Biosystems Silencer® siRNAs for OBSCN
Sigma-Aldrich siRNA and siRNA Panels for OBSCN  Sigma-Aldrich shRNA Panels and shRNA for OBSCN  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_052843                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_052843                                  untagged cDNA clone in CMV expression vector: NM_052843 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001098623
UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrilsCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme Number (IUBMB): EC 2.7.11.1 5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
): About this table | Pathways & Interactions for OBSCN
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for OBSCN 
5/92 Interacting proteins for OBSCN (ENSP000003556703 Q5VST91, 2) via UniProtKB, MINT, and/or STRING (see all 92
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006468 | protein amino acid phosphorylation |
IEA | -- | | GO:0007275 | multicellular organismal development |
IEA | -- | | GO:0030154 | cell differentiation |
IEA | -- | | GO:0035023 | regulation of Rho protein signal transduction |
IEA | -- | About this table
|
Drugs & Compounds for OBSCN(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for OBSCN
|
Transcripts for OBSCN(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_052843
Sigma-Aldrich siRNA and siRNA Panels for OBSCN  Sigma-Aldrich shRNA Panels and shRNA for OBSCN  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001098623 NM_052843 REFSEQ mRNAs for OBSCN gene (2 alternative transcripts): NM_001098623.1 NM_052843.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001098623 NM_052843               OriGene GFP tagged cDNA clone in CMV expression vector: NM_052843                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_052843                                  untagged cDNA clone in CMV expression vector: NM_052843  Additional cDNA sequence: AB046776.1 AB046859.2 AJ002535.1 AK097489.1 AK294019.1 AL832357.1 AL833724.1 AM231061.1 BC034746.1 BC098118.1 BC098262.1 BC098292.1 BC099731.1 BC114382.1 BC114461.1 DQ400343.1 17 DOTS entries: DT.309204 DT.91660234 DT.40192867 DT.100019129 DT.432103 DT.95070233 DT.91742598 DT.75132836 DT.92068659 DT.97813424 DT.121379161 DT.40235496 DT.91941546 DT.95370775 DT.101962611 DT.91833941 DT.91961510 24/66 AceView cDNA sequences (see all 66
):CA391927 BM984363 BE466441 BC034746 CD674219 BQ001756 CA430292 BC043916 BX279955 CA396562 BQ446463 AL080128 CK299696 F28086 BM551034 AI080136 AL833724 AK097489 CA391926 BE731455 AI889172 NM_052843 F24617 BQ006643
highest scoring ESTs for OBSCN:AA211445 AA211502 AI080136 AI128717 AI862904 AJ571824 AJ573009 AJ573143 AJ574393 AL832357 Unigene Cluster for OBSCN: Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Hs.656999 [show with all ESTs]Unigene Representative Sequence: NM_001098623
GeneLoc Exon Structure
6 Ensembl transcripts including schematic representations: ENST00000366709
ENST00000284548
ENST00000359599
ENST00000366706
ENST00000366707
ENST00000366704
|
Expression for OBSCN
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| OBSCN expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for OBSCN
1 / 2 / 3 9 probe-sets matching OBSCN gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGAGCGCCG
SOURCE GeneReport for Unigene cluster: Hs.656999
|
Orthologs for OBSCN
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for OBSCN gene from 4 species
About this table Species with no ortholog for OBSCN
ENSEMBL Gene Tree for OBSCN | Paralogs for OBSCN(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for OBSCN gene
- OBSL12
|
SNPs/Variants for OBSCN(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for OBSCN (up to first 250kb)
|
Disorders & Mutations for OBSCN
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608616
Human Gene Mutation Database: OBSCN
|
Medical News for OBSCN(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for OBSCN (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/23 PubMed articles for OBSCN gene (see all 23
):- Identification, tissue expression and chromosomal localization of human Obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases. (PubMed id 11814696)1, 2, 3, 4 Russell M.W....Sonneman K.J. (2002)
- Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. (PubMed id 11448995)2, 3, 4 Young P.W.... Gautel M. (2001)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 Gregory S.G.... Bentley D.R. (2006)
- Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing. (PubMed id 16205939)3, 4 Borisov A.B.... Russell M.W. (2006)
- Complete human gene structure of obscurin: implications for isoform generation by differential splicing. (PubMed id 16625316)3, 4 Fukuzawa A.... Gautel M. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. (PubMed id 12527750)3, 4 Bagnato P.... Sorrentino V. (2003)
- The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system. (PubMed id 11717165)3, 4 Bang M.-L....Labeit S. (2001)
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)3, 4 Nagase T....Ohara O. (2000)
|
Search for OBSCN
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing OBSCN
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing OBSCN
(According to HUGE)
About This Section
| |
Specialized Databases showing OBSCN(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for OBSCN(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for OBSCN:

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Incremental update: 13 Oct 2009
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