Prx periaxin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prxprovided by MGI
Official Full Name: periaxinprovided by MGI
Primary source: MGI:MGI:108176
See related: Ensembl:ENSMUSG00000053198 AllianceGenome:MGI:108176
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: L-Periaxin
Summary: Involved in several processes, including myelination in peripheral nervous system; regulation of RNA splicing; and transmission of nerve impulse. Located in cytosol; nuclear speck; and plasma membrane. Is expressed in sciatic nerve. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 3 and Charcot-Marie-Tooth disease type 4F. Orthologous to human PRX (periaxin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 29.1), mammary gland adult (RPKM 3.3) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 15.91 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (27198730..27219466)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (27499305..27520041)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Proteome profile of peripheral myelin in healthy mice and in a neuropathy model.
Title: Proteome profile of peripheral myelin in healthy mice and in a neuropathy model.
Taken together, these observations reveal that AnkB is required for Prx membrane anchoring and for maintenance of lens fiber cell hexagonal geometry, membrane skeleton organization, and biomechanics.
Title: Ankyrin-B directs membrane tethering of periaxin and is required for maintenance of lens fiber cell hexagonal shape and mechanics.
Cajal band appositions contain a dystroglycan complex that includes periaxin and dystrophin-related protein (Drp)2.
Title: Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth.
Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers
Title: Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers.
Preterminal branching due to segmental demyelination near the neuromuscular synapse in Periaxin KO mice may underlie some characteristics of disabilities, including coordination deficits, present in this mouse model of CMT disease.
Title: Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice.
dual mechanism for periaxin regulation and suggest that the role of Krox-20 is to amplify an earlier Krox-20-independent activation of the periaxin genein schwann cells
Title: Regulation of the myelin gene periaxin provides evidence for Krox-20-independent myelin-related signalling in Schwann cells.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67961 (e-PCR)
- UniSTS:225675

Prx (e-PCR), detects polymorphism
- UniSTS:144269

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in peripheral nervous system myelin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peripheral nervous system myelin maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in peripheral nervous system myelin maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: periaxin

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_019412.2 → NP_062285.1 periaxin isoform S

See identical proteins and their annotated locations for NP_062285.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript but encodes the shorter isoform (S).

Source sequence(s)

AC158304, AJ222969, CJ045218

Consensus CDS

CCDS39849.1

UniProtKB/Swiss-Prot

O55103

Related

ENSMUSP00000103992.2, ENSMUST00000108355.2

Conserved Domains (1) summary

smart00228
Location:17 → 98

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
NM_198048.2 → NP_932165.2 periaxin isoform L

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (L).

Source sequence(s)

AC158304, AJ222968, CJ045218

Consensus CDS

CCDS21023.1

UniProtKB/TrEMBL

E9QQ57, Q6NVF7

Related

ENSMUSP00000096241.3, ENSMUST00000098644.9

Conserved Domains (2) summary

smart00228
Location:17 → 98

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam02389
Location:433 → 547

Cornifin; Cornifin (SPRR) family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

27198730..27219466

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006539666.2 → XP_006539729.1 periaxin isoform X1

UniProtKB/TrEMBL

Q6NVF7

Conserved Domains (2) summary

smart00228
Location:17 → 98

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

pfam02389
Location:434 → 552

Cornifin; Cornifin (SPRR) family