From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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
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
Molecular structure of Speg region with inserted mutation sequence
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
^
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 (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 .
PMC
8199188 .
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 .
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, et al. (1996).
"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.
doi :
10.1074/jbc.271.29.17354 .
PMID
8663449 .
Hsieh CM, Yet SF, Layne MD, et al. (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" . J. Biol. Chem . 274 (20): 14344–51.
doi :
10.1074/jbc.274.20.14344 .
PMID
10318857 .
Nagase T, Kikuno R, Ishikawa KI, et al. (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 Res . 7 (1): 65–73.
doi :
10.1093/dnares/7.1.65 .
PMID
10718198 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Sutter SB, Raeker MO, Borisov AB, Russell MW (2005).
"Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases" (PDF) . Dev. Genes Evol . 214 (7): 352–9.
doi :
10.1007/s00427-004-0413-5 .
hdl :
2027.42/47514 .
PMID
15185077 .
S2CID
7676954 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Arvanitis DA, Flouris GA, Spandidos DA (2005).
"Genomic rearrangements on VCAM1, SELE, APEG1and AIF1 loci in atherosclerosis" . J. Cell. Mol. Med . 9 (1): 153–9.
doi :
10.1111/j.1582-4934.2005.tb00345.x .
PMC
6741330 .
PMID
15784173 .
Hillier LW, Graves TA, Fulton RS, et al. (2005).
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31.
Bibcode :
2005Natur.434..724H .
doi :
10.1038/nature03466 .
PMID
15815621 .
Manjasetty BA, Niesen FH, Scheich C, et al. (2006).
"X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1)" . BMC Struct. Biol . 5 : 21.
doi :
10.1186/1472-6807-5-21 .
PMC
1352370 .
PMID
16354304 .
Tam JL, Triantaphyllopoulos K, Todd H, et al. (2006). "The human desmin locus: gene organization and LCR-mediated transcriptional control". Genomics . 87 (6): 733–46.
doi :
10.1016/j.ygeno.2006.01.009 .
PMID
16545539 .
External links
Activity Regulation Classification Kinetics Types