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.[5][6][7] SPEG is involved in the development of the muscle cell cytoskeleton,[5] and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function.[7] Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.[8]
In the mouse this gene is called SPEG complex locus.[9]
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
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| Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the MGI
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Speg
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| Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse.
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Spegtm1a(KOMP)Wtsi
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| Example structure of targeted conditional mutant allele for this gene
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| 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
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References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000072195 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026207 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "SPEG striated muscle enriched protein kinase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 6 June 2021.
- ^ "SPEG - Striated muscle preferentially expressed protein kinase - Homo sapiens (Human) - SPEG gene & protein". www.uniprot.org. Retrieved 6 June 2021.
- ^ a b Luo S, Rosen SM, Li Q, Agrawal PB (May 2021). "Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease". International Journal of Molecular Sciences. 22 (11): 5732. doi:10.3390/ijms22115732. PMC 8199188. PMID 34072258.
- ^ Zhang G, Xu M, Huang T, Lin W, Chen J, Chen W, et al. (April 2021). "Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review". BMC Pediatrics. 21 (1): 209. doi:10.1186/s12887-021-02656-6. PMC 8082920. PMID 33926407.
- ^ "Speg SPEG complex locus [Mus musculus (house mouse)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 6 June 2021.
Further reading
- Hsieh CM, Yoshizumi M, Endege WO, Kho CJ, Jain MK, Kashiki S, et al. (July 1996). "APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury". The Journal of Biological Chemistry. 271 (29): 17354–17359. doi:10.1074/jbc.271.29.17354. PMID 8663449.
- Hsieh CM, Yet SF, Layne MD, Watanabe M, Hong AM, Perrella MA, et al. (May 1999). "Genomic cloning and promoter analysis of aortic preferentially expressed gene-1. Identification of a vascular smooth muscle-specific promoter mediated by an E box motif". The Journal of Biological Chemistry. 274 (20): 14344–14351. doi:10.1074/jbc.274.20.14344. PMID 10318857.
- Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
- Sutter SB, Raeker MO, Borisov AB, Russell MW (July 2004). "Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases". Development Genes and Evolution. 214 (7): 352–359. doi:10.1007/s00427-004-0413-5. hdl:2027.42/47514. PMID 15185077. S2CID 7676954.
- Arvanitis DA, Flouris GA, Spandidos DA (2005). "Genomic rearrangements on VCAM1, SELE, APEG1and AIF1 loci in atherosclerosis". Journal of Cellular and Molecular Medicine. 9 (1): 153–159. doi:10.1111/j.1582-4934.2005.tb00345.x. PMC 6741330. PMID 15784173.
- Manjasetty BA, Niesen FH, Scheich C, Roske Y, Goetz F, Behlke J, et al. (December 2005). "X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1)". BMC Structural Biology. 5: 21. doi:10.1186/1472-6807-5-21. PMC 1352370. PMID 16354304.
- Tam JL, Triantaphyllopoulos K, Todd H, Raguz S, de Wit T, Morgan JE, et al. (June 2006). "The human desmin locus: gene organization and LCR-mediated transcriptional control". Genomics. 87 (6): 733–746. doi:10.1016/j.ygeno.2006.01.009. PMID 16545539.
External links
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