SPEG
| SPEG complex locus | |||||||||||||
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PDB rendering based on 1u2h. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SPEG ; APEG-1; APEG1; BPEG; CNM5; SPEGalpha; SPEGbeta | ||||||||||||
| External IDs | OMIM: 615950 HomoloGene: 55619 IUPHAR: 2203 GeneCards: SPEG Gene | ||||||||||||
| EC number | 2.7.11.1 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10290 | 11790 | |||||||||||
| Ensembl | ENSG00000072195 | ENSMUSG00000026207 | |||||||||||
| UniProt | Q15772 | Q62407 | |||||||||||
| RefSeq (mRNA) | NM_001173476 | NM_001085370 | |||||||||||
| RefSeq (protein) | NP_001166947 | NP_001078839 | |||||||||||
| Location (UCSC) |
Chr 2: 219.43 – 219.5 Mb |
Chr 1: 75.38 – 75.43 Mb | |||||||||||
| PubMed search | |||||||||||||
SPEG complex locus, also known as SPEG, is a human gene.[1]
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.[1]
| 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
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. 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". Dev. Genes Evol. 214 (7): 352–9. doi:10.1007/s00427-004-0413-5. PMID 15185077.
- 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. 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. 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.
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