Ppil1 peptidylprolyl isomerase (cyclophilin)-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ppil1provided by MGI
Official Full Name: peptidylprolyl isomerase (cyclophilin)-like 1provided by MGI
Primary source: MGI:MGI:1916066
See related: Ensembl:ENSMUSG00000024007 AllianceGenome:MGI:1916066
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cypl1; 1110060O10Rik
Summary: Predicted to enable cyclosporin A binding activity; disordered domain specific binding activity; and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in embryonic brain development; gene expression; and protein peptidyl-prolyl isomerization. Predicted to be located in nucleus. Predicted to be part of U2-type catalytic step 2 spliceosome. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and urinary system. Used to study microcephaly and pontocerebellar hypoplasia type 14. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 14. Orthologous to human PPIL1 (peptidylprolyl isomerase like 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14.5 (RPKM 35.3), CNS E11.5 (RPKM 34.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 15.15 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (29469809..29482945, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (29250835..29263971, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Title: Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

203J18-Sp6 (e-PCR), detects polymorphism
- UniSTS:140905

AI327391 (e-PCR)
- UniSTS:160633

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity	IEA Inferred from Electronic Annotation more info
enables cyclosporin A binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	IEA Inferred from Electronic Annotation more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables peptidyl-prolyl cis-trans isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-prolyl cis-trans isomerase activity	ISO Inferred from Sequence Orthology more info
enables peptidyl-prolyl cis-trans isomerase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in embryonic brain development	ISO Inferred from Sequence Orthology more info
involved_in embryonic brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein peptidyl-prolyl isomerization	ISO Inferred from Sequence Orthology more info
involved_in protein peptidyl-prolyl isomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U2-type catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
part_of U2-type catalytic step 2 spliceosome	ISS Inferred from Sequence or Structural Similarity more info
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase-like 1

Names: PPIase; rotamase PPIL1

NP_081121.1

EC 5.2.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_026845.4 → NP_081121.1 peptidyl-prolyl cis-trans isomerase-like 1

See identical proteins and their annotated locations for NP_081121.1

Status: PROVISIONAL

Source sequence(s)

AC162182

Consensus CDS

CCDS28593.1

UniProtKB/Swiss-Prot

Q3UA03, Q9D0W5

UniProtKB/TrEMBL

B9EJX8, Q3U0J1

Related

ENSMUSP00000024802.9, ENSMUST00000024802.10

Conserved Domains (1) summary

cd01922
Location:15 → 161

cyclophilin_SpCYP2_like; cyclophilin 2-like peptidylprolyl cis- trans isomerase (PPIase) domain similar to Schizosaccharomyces pombe cyp-2. These proteins bind their respective SNW chromatin binding protein in autologous systems, in a CsA independent manner indicating ...