UniProt functional annotation for Q18PE0



	UniProt functional annotation for Q18PE0

UniProt code: Q18PE0.

Organism: Mus musculus (Mouse).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.

Function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. {ECO:0000269|PubMed:16794080, ECO:0000269|PubMed:20603078}.

Subunit: Homodimer. Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via IRS-type PTB domain) with MUSK (via cytoplasmic part); requires MUSK phosphorylation. {ECO:0000269|PubMed:16794080, ECO:0000269|PubMed:20603078}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:16794080}; Peripheral membrane protein {ECO:0000269|PubMed:16794080}. Cell junction, synapse {ECO:0000269|PubMed:16794080}. Note=Accumulates at neuromuscular junctions.

Developmental stage: Expressed in the central region encompassing the endplate area of the diaphragm muscles at day 14.5 of embryonic development (14.5 dpc), when AChRs cluster in a nerve- and agrin- independent manner. {ECO:0000269|PubMed:16794080}.

Domain: The PH domain mediated binding to phospholipids with phosphoinositol headgroups. Affinity is highest for phosphatidyl 3,4,5- trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate. {ECO:0000269|PubMed:20603078}.

Disruption phenotype: Mice are immobile at birth and die shortly thereafter. They do not form neither acetylcholine receptor clusters nor neuromuscular synapses. {ECO:0000269|PubMed:16794080}.

Sequence caution: Sequence=AAH89590.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC31923.1; Type=Erroneous initiation; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Mus musculus (Mouse).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.



Function:		Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. {ECO:0000269\|PubMed:16794080, ECO:0000269\|PubMed:20603078}.


Subunit:		Homodimer. Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via IRS-type PTB domain) with MUSK (via cytoplasmic part); requires MUSK phosphorylation. {ECO:0000269\|PubMed:16794080, ECO:0000269\|PubMed:20603078}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:16794080}; Peripheral membrane protein {ECO:0000269\|PubMed:16794080}. Cell junction, synapse {ECO:0000269\|PubMed:16794080}. Note=Accumulates at neuromuscular junctions.
Developmental stage:		Expressed in the central region encompassing the endplate area of the diaphragm muscles at day 14.5 of embryonic development (14.5 dpc), when AChRs cluster in a nerve- and agrin- independent manner. {ECO:0000269\|PubMed:16794080}.
Domain:		The PH domain mediated binding to phospholipids with phosphoinositol headgroups. Affinity is highest for phosphatidyl 3,4,5- trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate. {ECO:0000269\|PubMed:20603078}.
Disruption phenotype:		Mice are immobile at birth and die shortly thereafter. They do not form neither acetylcholine receptor clusters nor neuromuscular synapses. {ECO:0000269\|PubMed:16794080}.
Sequence caution:		Sequence=AAH89590.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC31923.1; Type=Erroneous initiation; Evidence={ECO:0000305};