SPEG

SPEG complex locus, also known as SPEG, is a human gene.[5]

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]
Gene ontology Molecular function • transferase activity • nucleotide binding • protein serine/threonine kinase activity • protein kinase activity • GO:0001948 protein binding • ATP binding • kinase activity Cellular component • cell nucleus Biological process • protein phosphorylation • muscle cell differentiation • muscle organ development • cell differentiation • phosphorylation • negative regulation of cell proliferation • cardiovascular system development 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

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.[5]

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.	Speg^tm1a(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. "Entrez Gene: SPEG SPEG complex locus".

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" (PDF). 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. 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. 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.