Pnn pinin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnnprovided by MGI
Official Full Name: pininprovided by MGI
Primary source: MGI:MGI:1100514
See related: Ensembl:ENSMUSG00000020994 AllianceGenome:MGI:1100514
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D12Ertd512e
Summary: Predicted to enable DNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Predicted to act upstream of or within cell-cell adhesion. Located in cytoplasm and nuclear speck. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and hemolymphoid system gland. Orthologous to human PNN (pinin, desmosome associated protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 65.0), CNS E14 (RPKM 38.8) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 26.0 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (59113705..59120803)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (59066919..59074017)

Chromosome 12 - NC_000078.7 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?

Pnn has an important role in alternative splicing of a specific subset of lncRNAs of the corneal epithelium.
Title: Role of Pnn in alternative splicing of a specific subset of lncRNAs of the corneal epithelium.
Pnn downregulation in skeletal muscle causes a muscular dystrophic phenotype associated with NEB deficiency and the CCD domain is incapable of replacing full length Pnn in terms of functional capacity.
Title: Transgenic mice expressing mutant Pinin exhibit muscular dystrophy, nebulin deficiency and elevated expression of slow-type muscle fiber genes.
Loss of Pnn induces apoptotic morphology in embryonic stem cells.
Title: Loss of Pnn expression results in mouse early embryonic lethality and cellular apoptosis through SRSF1-mediated alternative expression of Bcl-xS and ICAD.
The results suggest that astrocytes are unique among cell types of neuroblast origin in terms of expression Pinin protein.
Title: Pnn and SR family proteins are differentially expressed in mouse central nervous system.
Pinin modulates expression of an intestinal homeobox gene, Cdx2, and plays an essential role for small intestinal morphogenesis
Title: Pinin modulates expression of an intestinal homeobox gene, Cdx2, and plays an essential role for small intestinal morphogenesis.
demonstrate abnormal activities of Tcf/Lef transcription factors, and alterations in beta-catenin level in multiple Pnn hypomorphic tissues
Title: Role of Pinin in neural crest, dorsal dermis, and axial skeleton development and its involvement in the regulation of Tcf/Lef activity in mice.
Spatial and temporal expression profile of pinin during mouse development.
Title: Spatial and temporal expression profile of pinin during mouse development.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54093 (e-PCR)
- UniSTS:109330

NoName (e-PCR)
- UniSTS:532324

Pnn (e-PCR), detects polymorphism
- UniSTS:532324

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Pnn (e-PCR), detects polymorphism
- UniSTS:496522

D12Ertd512e (e-PCR), detects polymorphism
- UniSTS:167090

AU045199 (e-PCR)
- UniSTS:160211

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	ISO Inferred from Sequence Orthology more info
part_of exon-exon junction complex	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pinin

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.