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PEF1
Identifiers
Aliases	PEF1, ABP32, PEF1A, penta-EF-hand domain containing 1
External IDs	OMIM: 610033; MGI: 1915148; HomoloGene: 56569; GeneCards: PEF1; OMA:PEF1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p35.2 Start 31,629,866 bp End 31,644,896 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.2 Start 129,996,351 bp End 130,021,928 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left lobe of thyroid gland right lobe of thyroid gland ascending aorta skin of leg skin of abdomen popliteal artery tibial arteries Descending thoracic aorta right coronary artery left coronary artery Top expressed in granulocyte right kidney duodenum lip facial motor nucleus proximal tubule superior frontal gyrus dentate gyrus of hippocampal formation granule cell esophagus muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein binding protein dimerization activity metal ion binding calcium-dependent cysteine-type endopeptidase activity protein heterodimerization activity RNA binding calcium-dependent protein binding molecular adaptor activity Cellular component cytoplasm extracellular exosome membrane Golgi membrane COPII vesicle coat Cul3-RING ubiquitin ligase complex endoplasmic reticulum ER to Golgi transport vesicle membrane cytoplasmic vesicle Biological process response to calcium ion proteolysis endoplasmic reticulum to Golgi vesicle-mediated transport neural crest formation neural crest cell development COPII vesicle coating positive regulation of protein monoubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 553115 67898 Ensembl ENSG00000162517 ENSMUSG00000028779 UniProt Q9UBV8 Q8BFY6 RefSeq (mRNA) NM_012392 NM_001359651 NM_026441 RefSeq (protein) NP_036524 NP_001346580 NP_080717 Location (UCSC) Chr 1: 31.63 – 31.64 Mb Chr 4: 130 – 130.02 Mb PubMed search
Wikidata
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Peflin is a protein that in humans is encoded by the PEF1 gene.

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).

Interactions

PEF1 has been shown to interact with PDCD6.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000162517 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028779 – 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. Kitaura Y, Watanabe M, Satoh H, Kawai T, Hitomi K, Maki M (Oct 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.
6. Kitaura Y, Satoh H, Takahashi H, Shibata H, Maki M (Mar 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.
7. ^ "Entrez Gene: PEF1 penta-EF-hand domain containing 1".
8. Kitaura Y, Matsumoto S, Satoh H, Hitomi K, Maki M (Apr 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. ISSN 0021-9258. PMID 11278427.

Further reading

• 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.
• 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. doi:10.1016/S1570-9639(02)00445-4. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1016/S0014-5793(03)00518-0. PMID 12804766. S2CID 42572647.
• 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. PMC 403697. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• 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. S2CID 16668375.

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