Biology:SPEG
 Generic protein structure example |
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.[1][2][3] SPEG is involved in the development of the muscle cell cytoskeleton,[1] and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function.[3] Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.[4]
In the mouse this gene is called SPEG complex locus.[5] 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. | Spegtm1a(KOMP)Wtsi | |
| Example structure of targeted conditional mutant allele for this gene | ||
Wtsi.jpg) | ||
| 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 | ||
References
- ↑ 1.0 1.1 "SPEG striated muscle enriched protein kinase [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&rn=1&list_uids=10290.
- ↑ "SPEG - Striated muscle preferentially expressed protein kinase - Homo sapiens (Human) - SPEG gene & protein" (in en). https://www.uniprot.org/uniprot/Q15772.
- ↑ 3.0 3.1 Luo, S; Rosen, SM; Li, Q; Agrawal, PB (2021-05-27). "Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.". International Journal of Molecular Sciences 22 (11): 5732. doi:10.3390/ijms22115732. PMID 34072258.
- ↑ Zhang, G; Xu, M; Huang, T; Lin, W; Chen, J; Chen, W; Chang, X (2021-04-29). "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. PMID 33926407.
- ↑ "Speg SPEG complex locus [Mus musculus (house mouse) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&rn=1&list_uids=11790.
Further reading
- "APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury". J. Biol. Chem. 271 (29): 17354–9. 1996. doi:10.1074/jbc.271.29.17354. PMID 8663449.
- "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". J. Biol. Chem. 274 (20): 14344–51. 1999. doi:10.1074/jbc.274.20.14344. PMID 10318857.
- "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 Res. 7 (1): 65–73. 2000. doi:10.1093/dnares/7.1.65. PMID 10718198.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases". Dev. Genes Evol. 214 (7): 352–9. 2005. doi:10.1007/s00427-004-0413-5. PMID 15185077. https://deepblue.lib.umich.edu/bitstream/2027.42/47514/1/427_2004_Article_413.pdf.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Genomic rearrangements on VCAM1, SELE, APEG1and AIF1 loci in atherosclerosis". J. Cell. Mol. Med. 9 (1): 153–9. 2005. doi:10.1111/j.1582-4934.2005.tb00345.x. PMID 15784173.
- "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. 2005. doi:10.1038/nature03466. PMID 15815621. Bibcode: 2005Natur.434..724H.
- "X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1)". BMC Struct. Biol. 5: 21. 2006. doi:10.1186/1472-6807-5-21. PMID 16354304.
- "The human desmin locus: gene organization and LCR-mediated transcriptional control". Genomics 87 (6): 733–46. 2006. doi:10.1016/j.ygeno.2006.01.009. PMID 16545539.
External links
- SPEG human gene location in the UCSC Genome Browser.
- SPEG human gene details in the UCSC Genome Browser.
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