Human Gene OBSCN (ENST00000570156.7) from GENCODE V38
  Description: Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant IC, mRNA. (from RefSeq NM_001271223)
RefSeq Summary (NM_001271223): 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, Jul 2008].
Gencode Transcript: ENST00000570156.7
Gencode Gene: ENSG00000154358.23
Transcript (Including UTRs)
   Position: hg38 chr1:228,208,044-228,378,876 Size: 170,833 Total Exon Count: 116 Strand: +
Coding Region
   Position: hg38 chr1:228,211,784-228,378,795 Size: 167,012 Coding Exon Count: 115 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:228,208,044-228,378,876)mRNA (may differ from genome)Protein (8923 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: A6NGQ3_HUMAN
DESCRIPTION: SubName: Full=Obscurin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: OBSCN
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2j (8), fibromuscular dysplasia (6), cerebral arterial disease (4), dilated cardiomyopathy (1), left ventricular noncompaction (1), cardiomyopathy, familial hypertrophic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.75 RPKM in Muscle - Skeletal
Total median expression: 244.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.90160-0.443 Picture PostScript Text
3' UTR -28.2081-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR000048 - IQ_motif_EF-hand-BS
IPR011009 - Kinase-like_dom
IPR020675 - Myosin_light_ch_kinase-rel
IPR020682 - Obscurin-myosin_light-ch_kin
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS
IPR001452 - SH3_domain
IPR008266 - Tyr_kinase_AS

Pfam Domains:
PF00041 - Fibronectin type III domain
PF07679 - Immunoglobulin I-set domain
PF00612 - IQ calmodulin-binding motif
PF00069 - Protein kinase domain
PF00621 - RhoGEF domain

ModBase Predicted Comparative 3D Structure on A6NGQ3
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0016310 phosphorylation
GO:0035023 regulation of Rho protein signal transduction

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016604 nuclear body
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0031430 M band


-  Descriptions from all associated GenBank mRNAs
  AJ002535 - Homo sapiens mRNA for obscurin (OBSCN gene).
AB046776 - Homo sapiens mRNA for KIAA1556 protein, partial cds.
AL832357 - Homo sapiens mRNA; cDNA DKFZp451F056 (from clone DKFZp451F056).
DQ576719 - Homo sapiens piRNA piR-44831, complete sequence.
AK024186 - Homo sapiens cDNA FLJ14124 fis, clone MAMMA1002498.
BC098118 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024799), complete cds.
BC098262 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024800), complete cds.
BC098292 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024802), complete cds.
BC099731 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024803), complete cds.
BC114382 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024805), complete cds.
BC114461 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024804), complete cds.
KJ903372 - Synthetic construct Homo sapiens clone ccsbBroadEn_12766 OBSCN gene, encodes complete protein.
BC043916 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:3845393), with apparent retained intron.
AK097489 - Homo sapiens cDNA FLJ40170 fis, clone TESTI2016848, weakly similar to H.sapiens mRNA for titin protein.
AL080128 - Homo sapiens mRNA; cDNA DKFZp434C153 (from clone DKFZp434C153).
AB046859 - Homo sapiens mRNA for KIAA1639 protein, partial cds.
AM231061 - Homo sapiens partial mRNA for obscurin isoform B (OBSCN gene).
DQ400343 - Homo sapiens obscurin isoform B (OBSCN) mRNA, partial cds, alternatively spliced.
JD388075 - Sequence 369099 from Patent EP1572962.
AL833724 - Homo sapiens mRNA; cDNA DKFZp666E245 (from clone DKFZp666E245).
JD216455 - Sequence 197479 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NGQ3, A6NGQ3_HUMAN, ENST00000570156.1, ENST00000570156.2, ENST00000570156.3, ENST00000570156.4, ENST00000570156.5, ENST00000570156.6, NM_001271223, uc001hsq.1, uc001hsq.2, uc001hsq.3
UCSC ID: ENST00000570156.7
RefSeq Accession: NM_001271223
Protein: A6NGQ3 CCDS: CCDS59204.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene OBSCN:
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.