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Details on Person UniProt:Q5VST9-3 OBSCN
| Class:Id | ReferenceIsoform:195048 |
|---|---|
| _chainChangeLog | chain:1-7968 added on Sat February 7 2015 |
| _displayName | UniProt:Q5VST9-3 OBSCN |
| _timestamp | 2025-05-21 21:07:14 |
| chain | chain:1-7968 |
| checksum | 13F411797E399D10 |
| comment | FUNCTION Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662).CATALYTIC ACTIVITY L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+)CATALYTIC ACTIVITY L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+)COFACTOR Interacts (via protein kinase domain 2) with CDH2 and (via protein kinase domain 1) with ATP1B1 (By similarity). Isoform 3 interacts with TTN/titin and calmodulin (PubMed:11448995, PubMed:11717165). Isoform 3 interacts with ANK1 isoform Mu17/ank1.5 (PubMed:12527750).INTERACTION 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).SUBCELLULAR LOCATION 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.ALTERNATIVE PRODUCTS Additional isoforms seem to exist.PTM Autophosphorylated by protein kinase domains 1 and 2.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.MISCELLANEOUS Lacks the kinase domain. Initially described as obscurin.SIMILARITY Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.CAUTION Initially the name obscurin was used to describe isoform 3 which lacks the kinase domains. |
| created | [InstanceEdit:195029] Gopinathrao, G, 2007-04-02 17:19:01 |
| description | recommendedName: Obscurin ecNumber evidence="2"2.7.11.1 alternativeName: Obscurin-RhoGEF alternativeName: Obscurin-myosin light chain kinase shortName: Obscurin-MLCK |
| geneName | OBSCN KIAA1556 KIAA1639 |
| identifier | Q5VST9 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing ATP-binding Calmodulin-binding Cell membrane Chromosomal rearrangement Cytoplasm Developmental protein Differentiation Disease variant Disulfide bond Immunoglobulin domain Kinase Lipid-binding Magnesium Membrane Metal-binding Muscle protein Nucleotide-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Serine/threonine-protein kinase SH3 domain Transferase |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | OBSCN |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8960201] ENSEMBL:ENSG00000154358 OBSCN [Homo sapiens] |
| secondaryIdentifier | OBSCN_HUMAN A0A7P0Z489 Q2A664 Q5T7G8 Q5T7G9 Q5VSU2 Q86YC7 Q8NHN0 Q8NHN1 Q8NHN2 Q8NHN3 Q8NHN4 Q8NHN5 Q8NHN6 Q8NHN7 Q8NHN8 Q8NHN9 Q96AA2 Q9HCD3 Q9HCL6 |
| sequenceLength | 7968 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q5VST9-3 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q5VST9-3 OBSCN (195048)
