SPEG

SPEG
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1U2H
Identifiers
Aliases	SPEG, APEG-1, APEG1, BPEG, SPEGalpha, SPEGbeta, CNM5, SPEG complex locus, MYLK6, striated muscle enriched protein kinase
External IDs	OMIM: 615950; MGI: 109282; HomoloGene: 55619; GeneCards: SPEG; OMA:SPEG - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	219,493,629 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,432,320 bp
RNA expression pattern
	Top expressed in
	popliteal artery; ; tibial arteries; ; right coronary artery; ; Descending thoracic aorta; ; ascending aorta; ; gastric mucosa; ; body of uterus; ; left uterine tube; ; muscle layer of sigmoid colon; ; left coronary artery;
	Top expressed in
	ascending aorta; ; aortic valve; ; external carotid artery; ; internal carotid artery; ; tunica media of zone of aorta; ; muscle of thigh; ; Epithelium of choroid plexus; ; right ventricle; ; triceps brachii muscle; ; superior surface of tongue;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein serine/threonine kinase activity; protein kinase activity; protein binding; ATP binding; kinase activity;
Cellular component	nucleus;
Biological process	protein phosphorylation; muscle cell differentiation; muscle organ development; cell differentiation; phosphorylation; negative regulation of cell population proliferation;
	Sources:Amigo / QuickGO
Orthologs
	10290
	11790
	ENSG00000072195
	ENSMUSG00000026207
	Q15772
	Q62407
	NM_001173476; NM_005876
	NM_001085370; NM_001085371; NM_001173477; NM_007463
	NP_001166947; NP_005867
	NP_001078839; NP_001078840; NP_001166948; NP_031489
	Wikidata
View/Edit Human	View/Edit Mouse

Striated muscle preferentially expressed protein kinase, in the human is encoded by the SPEG gene, a member of the myosin light-chain kinase protein family. SPEG is involved in the development of the muscle cell cytoskeleton, and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function. Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.

In the mouse this gene is called SPEG complex locus. Expression of this gene is thought to serve as a marker for differentiated vascular smooth muscle cells which may have a role in regulating growth and differentiation of this cell type. The encoded protein is highly similar to the corresponding rat and mouse proteins. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of only one variant has been defined.

Mouse Mutant Alleles for Speg
Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the MGI	Speg
Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse.	Speg^{tm1a(KOMP)Wtsi}
Example structure of targeted conditional mutant allele for this gene

These Mutant ES Cells can be studied directly or used to generate mice with this gene knocked out. Study of these mice can shed light on the function of Speg: see Knockout mouse