SPEG
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{for|the botanist with taxonomic author abbreviation Speg.|Carlo Luigi Spegazzini}}
{{Infobox gene}}
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.{{cite web |title=SPEG striated muscle enriched protein kinase [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&rn=1&list_uids=10290 |website=www.ncbi.nlm.nih.gov |access-date=6 June 2021}}{{cite web |title=SPEG - Striated muscle preferentially expressed protein kinase - Homo sapiens (Human) - SPEG gene & protein |url=https://www.uniprot.org/uniprot/Q15772 |website=www.uniprot.org |access-date=6 June 2021 |language=en}}{{cite journal | vauthors = Luo S, Rosen SM, Li Q, Agrawal PB | title = Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease | journal = International Journal of Molecular Sciences | volume = 22 | issue = 11 | page = 5732 | date = May 2021 | pmid = 34072258 | pmc = 8199188 | doi = 10.3390/ijms22115732 | doi-access = free }} 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.{{cite journal | vauthors = Zhang G, Xu M, Huang T, Lin W, Chen J, Chen W, Chang X | title = Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review | journal = BMC Pediatrics | volume = 21 | issue = 1 | pages = 209 | date = April 2021 | pmid = 33926407 | pmc = 8082920 | doi = 10.1186/s12887-021-02656-6 | doi-access = free }}
In the mouse this gene is called SPEG complex locus.{{cite web |title=Speg SPEG complex locus [Mus musculus (house mouse)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&rn=1&list_uids=11790 |website=www.ncbi.nlm.nih.gov |access-date=6 June 2021}}
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.
| class="wikitable" |
| colspan=3 | Mouse Mutant Alleles for Speg |
|---|
| Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the [http://informatics.jax.org MGI]
| [http://www.informatics.jax.org/javawi2/servlet/WIFetch?page=markerDetail&key=31285 Speg] |
| Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse.
| [http://www.knockoutmouse.org/genedetails/MGI:109282 Spegtm1a(KOMP)Wtsi] |
| colspan=2 | Example structure of targeted conditional mutant allele for this gene |
| colspan=2 style="background:white"| File:Speg tm1a(KOMP)Wtsi.jpg |
| colspan=2 | 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
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Further reading
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- {{cite journal | vauthors = Hsieh CM, Yoshizumi M, Endege WO, Kho CJ, Jain MK, Kashiki S, de los Santos R, Lee WS, Perrella MA, Lee ME | title = APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury | journal = The Journal of Biological Chemistry | volume = 271 | issue = 29 | pages = 17354–17359 | date = July 1996 | pmid = 8663449 | doi = 10.1074/jbc.271.29.17354 | doi-access = free }}
- {{cite journal | vauthors = Hsieh CM, Yet SF, Layne MD, Watanabe M, Hong AM, Perrella MA, Lee ME | title = 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 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 20 | pages = 14344–14351 | date = May 1999 | pmid = 10318857 | doi = 10.1074/jbc.274.20.14344 | doi-access = free }}
- {{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = 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 | journal = DNA Research | volume = 7 | issue = 1 | pages = 65–73 | date = February 2000 | pmid = 10718198 | doi = 10.1093/dnares/7.1.65 | doi-access = free }}
- {{cite journal | vauthors = Sutter SB, Raeker MO, Borisov AB, Russell MW | title = Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases | journal = Development Genes and Evolution | volume = 214 | issue = 7 | pages = 352–359 | date = July 2004 | pmid = 15185077 | doi = 10.1007/s00427-004-0413-5 | hdl-access = free | s2cid = 7676954 | hdl = 2027.42/47514 }}
- {{cite journal | vauthors = Arvanitis DA, Flouris GA, Spandidos DA | title = Genomic rearrangements on VCAM1, SELE, APEG1and AIF1 loci in atherosclerosis | journal = Journal of Cellular and Molecular Medicine | volume = 9 | issue = 1 | pages = 153–159 | year = 2005 | pmid = 15784173 | pmc = 6741330 | doi = 10.1111/j.1582-4934.2005.tb00345.x }}
- {{cite journal | vauthors = Manjasetty BA, Niesen FH, Scheich C, Roske Y, Goetz F, Behlke J, Sievert V, Heinemann U, Büssow K | title = X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1) | journal = BMC Structural Biology | volume = 5 | pages = 21 | date = December 2005 | pmid = 16354304 | pmc = 1352370 | doi = 10.1186/1472-6807-5-21 | doi-access = free }}
- {{cite journal | vauthors = Tam JL, Triantaphyllopoulos K, Todd H, Raguz S, de Wit T, Morgan JE, Partridge TA, Makrinou E, Grosveld F, Antoniou M | title = The human desmin locus: gene organization and LCR-mediated transcriptional control | journal = Genomics | volume = 87 | issue = 6 | pages = 733–746 | date = June 2006 | pmid = 16545539 | doi = 10.1016/j.ygeno.2006.01.009 | doi-access = }}
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External links
- {{UCSC genome browser|SPEG}}
- {{UCSC gene details|SPEG}}
{{PDB Gallery|geneid=10290}}
{{Serine/threonine-specific protein kinases}}
{{Enzymes}}
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