PEF1

From Wikipedia, the free encyclopedia


Penta-EF-hand domain containing 1
Identifiers
Symbol(s) PEF1; PEF1A; PEFLIN
External IDs OMIM: 610033 MGI1915148 HomoloGene56569
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 553115 67898
Ensembl ENSG00000162517 ENSMUSG00000028779
Uniprot Q9UBV8 Q8BFY6
Refseq NM_012392 (mRNA)
NP_036524 (protein)
NM_026441 (mRNA)
NP_080717 (protein)
Location Chr 1: 31.87 - 31.88 Mb Chr 4: 129.61 - 129.63 Mb
Pubmed search [1] [2]

Penta-EF-hand domain containing 1, also known as PEF1, is a human gene.[1]

PEF1 is a Ca(2+)-binding protein that belongs to the penta-EF hand (PEF) protein family, which includes the calpain small subunit (CAPNS1; MIM 114170), sorcin (SRI; MIM 182520), grancalcin (GCA; MIM 607030), and ALG2 (PDCD6; MIM 601057) (Kitaura et al., 2001).[supplied by OMIM][1]

[edit] References

[edit] Further reading

  • Kitaura Y, Watanabe M, Satoh H, et al. (1999). "Peflin, a novel member of the five-EF-hand-protein family, is similar to the apoptosis-linked gene 2 (ALG-2) protein but possesses nonapeptide repeats in the N-terminal hydrophobic region.". Biochem. Biophys. Res. Commun. 263 (1): 68-75. doi:10.1006/bbrc.1999.1189. PMID 10486255. 
  • Kitaura Y, Matsumoto S, Satoh H, et al. (2001). "Peflin and ALG-2, members of the penta-EF-hand protein family, form a heterodimer that dissociates in a Ca2+-dependent manner.". J. Biol. Chem. 276 (17): 14053-8. doi:10.1074/jbc.M008649200. PMID 11278427. 
  • Kitaura Y, Satoh H, Takahashi H, et al. (2002). "Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.". Arch. Biochem. Biophys. 399 (1): 12-8. doi:10.1006/abbi.2001.2736. PMID 11883899. 
  • Satoh H, Nakano Y, Shibata H, Maki M (2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner.". Biochim. Biophys. Acta 1600 (1-2): 61-7. PMID 12445460. 
  • 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. PMID 12477932. 
  • Hansen C, Tarabykina S, la Cour JM, et al. (2003). "The PEF family proteins sorcin and grancalcin interact in vivo and in vitro.". FEBS Lett. 545 (2-3): 151-4. PMID 12804766. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265-70. doi:10.1101/gr.1293003. PMID 12975309. 
  • 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. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:10.1038/nature04209. PMID 16189514. 
  • Jordanova A, Irobi J, Thomas FP, et al. (2006). "Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.". Nat. Genet. 38 (2): 197-202. doi:10.1038/ng1727. PMID 16429158.