Human Gene OBSCN (ENST00000636476.2) from GENCODE V38
  Description: 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 myofibrils. (from UniProt Q5VST9)
RefSeq Summary (NM_001098623): 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: ENST00000636476.2
Gencode Gene: ENSG00000154358.23
Transcript (Including UTRs)
   Position: hg38 chr1:228,211,784-228,378,876 Size: 167,093 Total Exon Count: 104 Strand: +
Coding Region
   Position: hg38 chr1:228,211,784-228,378,795 Size: 167,012 Coding Exon Count: 104 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:228,211,784-228,378,876)mRNA (may differ from genome)Protein (7969 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGImyGene2neXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: OBSCN_HUMAN
DESCRIPTION: RecName: Full=Obscurin; EC=2.7.11.1; AltName: Full=Obscurin-RhoGEF; AltName: Full=Obscurin-myosin light chain kinase; Short=Obscurin-MLCK;
FUNCTION: 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 myofibrils.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
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).
INTERACTION: P16157:ANK1; NbExp=3; IntAct=EBI-941921, EBI-941686; P16157-17:ANK1; NbExp=8; IntAct=EBI-941921, EBI-941819; Q8WZ42:TTN; NbExp=4; IntAct=EBI-941850, EBI-681210;
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. 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.
SIMILARITY: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 3 fibronectin type-III domains.
SIMILARITY: Contains 55 Ig-like (immunoglobulin-like) domains.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 2 PH domains.
SIMILARITY: Contains 2 protein kinase domains.
SIMILARITY: Contains 1 SH3 domain.
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;

-  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
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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1V1C
- NMR MuPIT

2CR6
- NMR MuPIT

2DKU
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2DM7 - NMR MuPIT 2E7B - NMR MuPIT 2EDF - NMR MuPIT
2EDH - NMR MuPIT 2EDL - NMR MuPIT 2EDQ - NMR MuPIT
2EDR - NMR MuPIT 2EDT - NMR MuPIT 2EDW - NMR MuPIT
2ENY - NMR MuPIT 2EO1 - NMR MuPIT 2GQH - NMR MuPIT
2YZ8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q5VST9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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:0004674 protein serine/threonine kinase activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008307 structural constituent of muscle
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0030506 ankyrin binding
GO:0031432 titin binding
GO:0046872 metal ion binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0016310 phosphorylation
GO:0030154 cell differentiation
GO:0035023 regulation of Rho protein signal transduction
GO:0036309 protein localization to M-band
GO:0043065 positive regulation of apoptotic process
GO:0045214 sarcomere organization
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016604 nuclear body
GO:0030016 myofibril
GO:0030018 Z disc
GO:0031430 M band
GO:0042383 sarcolemma


-  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.
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.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5VST9 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: AJ002535, ENST00000636476.1, KIAA1556, KIAA1639, OBSCN_HUMAN, Q2A664, Q5T7G8, Q5T7G9, Q5VST9, Q5VSU2, Q86YC7, Q8NHN0, Q8NHN1, Q8NHN2, Q8NHN3, Q8NHN4, Q8NHN5, Q8NHN6, Q8NHN7, Q8NHN8, Q8NHN9, Q96AA2, Q9HCD3, Q9HCL6, uc285hmq.1, uc285hmq.2
UCSC ID: ENST00000636476.2
RefSeq Accession: NM_001098623
Protein: Q5VST9 (aka OBSCN_HUMAN)
CCDS: CCDS58065.1

-  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.