PPIL3
| Peptidylprolyl isomerase (cyclophilin)-like 3 | |||||||||||||
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PDB rendering based on 1xyh. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PPIL3 ; CYPJ | ||||||||||||
| External IDs | OMIM: 615811 MGI: 1917475 HomoloGene: 41717 GeneCards: PPIL3 Gene | ||||||||||||
| EC number | 5.2.1.8 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 53938 | 70225 | |||||||||||
| Ensembl | ENSG00000240344 | ENSMUSG00000026035 | |||||||||||
| UniProt | Q9H2H8 | Q9D6L8 | |||||||||||
| RefSeq (mRNA) | NM_032472 | NM_001285826 | |||||||||||
| RefSeq (protein) | NP_115861 | NP_001272755 | |||||||||||
| Location (UCSC) |
Chr 2: 200.87 – 200.89 Mb |
Chr 1: 58.43 – 58.45 Mb | |||||||||||
| PubMed search | |||||||||||||
Peptidyl-prolyl cis-trans isomerase-like 3 is an enzyme that in humans is encoded by the PPIL3 gene.[1][2]
Function
This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Transcript variants derived from alternative splicing and/or alternative polyadenylation exist; some of these variants encode different isoforms.[2]
Model organisms
Model organisms have been used in the study of PPIL3 function. A conditional knockout mouse line called Ppil3tm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9]
| Characteristic | Phenotype |
|---|---|
| All data available at.[4][9] | |
| Haematology 6 Weeks | Normal |
| Insulin | Normal |
| Homozygous viability at P14 | Normal |
| Homozygous Fertility | Normal |
| Body weight | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Abnormal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Haematology 16 Weeks | Normal |
| Peripheral blood leukocytes 16 Weeks | Normal |
| Heart weight | Normal |
| Salmonella infection | Normal |
| Cytotoxic T Cell Function | Normal |
| Spleen Immunophenotyping | Normal |
| Mesenteric Lymph Node Immunophenotyping | Normal |
| Anti-nuclear Antibody Assay | Normal |
| Epidermal Immune Composition | Normal |
| Influenza Challenge | Normal |
References
- ↑ Zhou Z, Ying K, Dai J, Tang R, Wang W, Huang Y, Zhao W, Xie Y, Mao Y (Jul 2001). "Molecular cloning and characterization of a novel peptidylprolyl isomerase (cyclophilin)-like gene (PPIL3) from human fetal brain". Cytogenetics and Cell Genetics 92 (3-4): 231–6. doi:10.1159/000056909. PMID 11435694.
- 1 2 "Entrez Gene: PPIL3 peptidylprolyl isomerase (cyclophilin)-like 3".
- ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- 1 2 "International Mouse Phenotyping Consortium".
- ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
- 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".
Further reading
- Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ (Apr 2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". Rna 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
- Huang LL, Zhao XM, Huang CQ, Yu L, Xia ZX (Mar 2005). "Structure of recombinant human cyclophilin J, a novel member of the cyclophilin family". Acta Crystallographica. Section D, Biological Crystallography 61 (Pt 3): 316–21. doi:10.1107/S0907444904033189. PMID 15735342.
- Qi ZY, Hui GZ, Li Y, Zhou ZX, Gu SH, Ying K, Xie Y (May 2005). "cDNA microarray in isolation of novel differentially expressed genes related to human glioma and clone of a novel full-length gene". Chinese Medical Journal 118 (10): 799–805. PMID 15989758.
- Hu H, Huang CQ, Liu HL, Han Y, Yu L, Bi RC (Feb 2005). "Crystallization and preliminary X-ray crystallographic studies of human cyclophilin J". Acta Crystallographica. Section F, Structural Biology and Crystallization Communications 61 (Pt 2): 216–8. doi:10.1107/S1744309105000643. PMC 1952245. PMID 16510998.
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