Protein-coding gene in the species Homo sapiens
| PEF1 |
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| Identifiers |
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| Aliases | PEF1, ABP32, PEF1A, penta-EF-hand domain containing 1 |
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| External IDs | OMIM: 610033; MGI: 1915148; HomoloGene: 56569; GeneCards: PEF1; OMA:PEF1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 1 (human)[1] |
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| | Band | 1p35.2 | Start | 31,629,866 bp[1] |
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| End | 31,644,896 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 4 (mouse)[2] |
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| | Band | 4|4 D2.2 | Start | 129,996,351 bp[2] |
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| End | 130,021,928 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | 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
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 1: 31.63 – 31.64 Mb | Chr 4: 130 – 130.02 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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.
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.
