PPIL3

PPIL3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1XYH, 2OJU, 2OK3
Identifiers
Aliases	PPIL3, CYPJ, peptidylprolyl isomerase like 3
External IDs	OMIM: 615811; MGI: 1917475; HomoloGene: 41717; GeneCards: PPIL3; OMA:PPIL3 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	200,889,303 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	58,484,645 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; pancreatic epithelial cell; ; ganglionic eminence; ; myocardium of left ventricle; ; ventricular zone; ; secondary oocyte; ; right uterine tube; ; tibialis anterior muscle; ; germinal epithelium; ; tibia;
	Top expressed in
	facial motor nucleus; ; endothelial cell of lymphatic vessel; ; hand; ; primitive streak; ; primary oocyte; ; otolith organ; ; utricle; ; superior cervical ganglion; ; medullary collecting duct; ; condyle;
	More reference expression data
	n/a
Gene ontology
Molecular function	isomerase activity; protein binding; peptidyl-prolyl cis-trans isomerase activity;
Cellular component	catalytic step 2 spliceosome; spliceosomal complex;
Biological process	mRNA splicing, via spliceosome; mRNA processing; protein folding; RNA splicing; protein peptidyl-prolyl isomerization;
	Sources:Amigo / QuickGO
Orthologs
	53938
	70225
	ENSG00000240344
	ENSMUSG00000026035
	Q9H2H8
	Q9D6L8
	NM_032472; NM_130906; NM_131916
	NM_001285826; NM_001285827; NM_027351; NM_027374
	NP_115861; NP_570981
	NP_001272755; NP_001272756; NP_081627; NP_081650
	Wikidata
View/Edit Human	View/Edit Mouse

Peptidyl-prolyl cis-trans isomerase-like 3 is an enzyme that in humans is encoded by the PPIL3 gene.^[5]^[6]

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.^[6]

Model organisms

Model organisms have been used in the study of PPIL3 function. A conditional knockout mouse line called Ppil3^{tm1b(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[7] Male and female animals underwent a standardized phenotypic screen^[8] to determine the effects of deletion.^[9]^[10]^[11]^[12] Additional screens performed: - In-depth immunological phenotyping^[13]

*Ppil3* knockout mouse phenotype
Characteristic	Phenotype
All data available at.^[8]^[13]
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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000240344 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026035 – 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.
^ 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.
^ ^a ^b "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.
^ ^a ^b "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.
^ ^a ^b "Infection and Immunity Immunophenotyping (3i) Consortium".

Function

Model organisms

References

Further reading