Peflin

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)
End	31,644,896 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	130,021,928 bp
RNA expression pattern
	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
	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
	553115
	67898
	ENSG00000162517
	ENSMUSG00000028779
	Q9UBV8
	Q8BFY6
	NM_012392; NM_001359651
	NM_026441
	NP_036524; NP_001346580
	NP_080717
	Wikidata
View/Edit Human	View/Edit Mouse

Peflin is a protein that in humans is encoded by the PEF1 gene.^[5]^[6]^[7]

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]^[7]

Interactions

PEF1 has been shown to interact with PDCD6.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162517 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028779 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: PEF1 penta-EF-hand domain containing 1".
^ 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.

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162517 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10486255-5] 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.

[pmid11883899-6] 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.

[entrez-7] "Entrez Gene: PEF1 penta-EF-hand domain containing 1".

[pmid11278427-8] 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.

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Interactions

References

Further reading