| Gene Information | |
|---|---|
| Gene Name | OBSCN |
| Organism | Homo sapiens (Human) |
| Gene Length | 7968 |
| Protein Names | Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000154358 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | OBSCN |
| Uniprot ID | Q5VST9 |
| Pfam | PF00041; PF07679; PF00612; PF00069; PF00621 |
| In ASD | no |
| Allosteric Prediction | no (-0.206415492) |
| Ortholog in Animals | Alpaca_ OBSCN ( ortholog_one2one ) Mouse_ Obscn ( ortholog_one2one ) Pig_ OBSCN ( ortholog_one2one ) Rat_ Obscn ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PALLD, MYPN, HMCN1, IGFN1, CCDC141, ALPK3, SPEG, SPEGNB, MYOT |
| Tissue | skeletal.muscle, artery, heart |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1V1C (NMR - ) 2CR6 (NMR - ) 2DKU (NMR - ) 2DM7 (NMR - ) 2E7B (NMR - ) 2EDF (NMR - ) 2EDH (NMR - ) 2EDL (NMR - ) 2EDQ (NMR - ) 2EDR (NMR - ) 2EDT (NMR - ) 2EDW (NMR - ) 2ENY (NMR - ) 2EO1 (NMR - ) 2GQH (NMR - ) 2MWC (NMR - ) 2N56 (NMR - ) 2YZ8 (X-ray 2.00A ) 4C4K (X-ray 1.95A ) 4RSV (X-ray 2.41A ) 4UOW (X-ray 3.30A ) 5TZM (X-ray 1.18A ) 6MG9 (NMR - ) |
| DBSNP | rs1771487 rs1771487 rs55950009 rs1757153 rs55760713 rs117147433 rs752906025 rs965007403 rs780907202 rs777214598 rs950055015 rs199523598 rs7532342 rs453140 rs56217040 rs55706639 rs750681123 rs545316651 rs1188721 rs1188722 rs3795783 rs1188697 rs3795785 rs437129 rs3795789 rs3795790 rs770177081 rs539154039 rs435776 rs1150912 rs1188732 rs369570923 rs11810627 rs4653942 rs199865640 rs1188729 rs3795800 rs3795801 rs570805670 rs373610 rs369909 rs3795809 rs867550675 rs1188710 rs500049 |
| Subcellular location [CC] | [Isoform 3]: Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:12527750}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:12527750}. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk (PubMed:12527750). Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells (PubMed:12527750).; Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:A2AAJ9}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:A2AAJ9}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:A2AAJ9}. Nucleus {ECO:0000250|UniProtKB:A2AAJ9}. Note=Colocalizes with CDH2 and ATP1B1 to the sarcolemma and to intercalating disks in cardiac muscles. Colocalizes with ATP1B1 to M line and Z line in cardiac muscles. {ECO:0000250|UniProtKB:A2AAJ9}. |
| Mouse PG classification | NA |
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