SPEG

For the botanist with taxonomic author abbreviation Speg., see Carlo Luigi Spegazzini.

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
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q35 Start 219,434,843 bp [1] End 219,493,629 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 C4|1 38.88 cM Start 75,375,297 bp [2] End 75,432,320 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in popliteal artery right coronary artery ascending aorta gastric mucosa left uterine tube left coronary artery gastrocnemius muscle canal of the cervix left ventricle anterior pituitary Top expressed in ascending aorta aortic valve external carotid artery internal carotid artery right ventricle triceps brachii muscle superior surface of tongue olfactory tubercle supraoptic nucleus digastric muscle More reference expression data BioGPS 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 Species Human Mouse Entrez 10290 11790 Ensembl ENSG00000072195 ENSMUSG00000026207 UniProt Q15772 Q62407 RefSeq (mRNA) NM_001173476 NM_005876 NM_001085370 NM_001085371 NM_001173477 NM_007463 RefSeq (protein) NP_001166947 NP_005867 NP_001078839 NP_001078840 NP_001166948 NP_031489 Location (UCSC) Chr 2: 219.43 – 219.49 Mb Chr 1: 75.38 – 75.43 Mb PubMed search [3] [4]
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. ^{[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

1. GRCh38: Ensembl release 89: ENSG00000072195 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026207 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "SPEG striated muscle enriched protein kinase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 6 June 2021.
6. "SPEG - Striated muscle preferentially expressed protein kinase - Homo sapiens (Human) - SPEG gene & protein". www.uniprot.org. Retrieved 6 June 2021.
7. 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.
8. 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.
9. "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

• SPEG human gene location in the UCSC Genome Browser .
• SPEG human gene details in the UCSC Genome Browser .