UniProt functional annotation for Q5VST9

UniProt code: Q5VST9.

Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
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). {ECO:0000250|UniProtKB:A2AAJ9, ECO:0000269|PubMed:11448995, ECO:0000269|PubMed:16205939, ECO:0000269|PubMed:28826662}.
Catalytic activity:		Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:A2AAJ9};
Catalytic activity:		Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:A2AAJ9};
Cofactor:		Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:A2AAJ9};
Subunit:		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). {ECO:0000250|UniProtKB:A2AAJ9, ECO:0000269|PubMed:11448995, ECO:0000269|PubMed:11717165, ECO:0000269|PubMed:12527750}.
Subcellular location:		[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).
Subcellular location:		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}.
Ptm:		Autophosphorylated by protein kinase domains 1 and 2. {ECO:0000250|UniProtKB:A2AAJ9}.
Disease:		Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1. {ECO:0000269|PubMed:12618763}.
Miscellaneous:		[Isoform 3]: Lacks the kinase domain. Initially described as obscurin. {ECO:0000305}.
Similarity:		Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. {ECO:0000305}.
Sequence caution:		Sequence=CAC85746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85749.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence caution:		[Isoform 4]: Sequence=BAB13382.1; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.