SPEG
Protein SPEG PDB 1u2h.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPEG, APEG-1, APEG1, BPEG, SPEGalpha, SPEGbeta, CNM5, SPEG complex locus, MYLK6, striated muscle enriched protein kinase
External IDsOMIM: 615950 MGI: 109282 HomoloGene: 55619 GeneCards: SPEG
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 1: 75.38 – 75.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000072195 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. ^ 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.
  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