Prph peripherin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prphprovided by MGI
Official Full Name: peripherinprovided by MGI
Primary source: MGI:MGI:97774
See related: Ensembl:ENSMUSG00000023484 AllianceGenome:MGI:97774
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: Prph1
Summary: Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within intermediate filament cytoskeleton organization. Located in C-fiber; neurofilament; and photoreceptor outer segment membrane. Is expressed in several structures, including adrenal gland; alimentary system; diaphragm; nervous system; and olfactory system. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 1. Orthologous to human PRPH (peripherin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E14 (RPKM 15.6), CNS E18 (RPKM 8.0) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 55.72 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (98951452..98956858)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (99053579..99058978)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Data suggest that the underlying molecular mechanisms in amyotrophic lateral sclerosis pathogenesis involve peripherin mis-splicing and altered homeostasis of nerve fibers.
Title: ALS mouse model SOD1G93A displays early pathology of sensory small fibers associated to accumulation of a neurotoxic splice variant of peripherin.
Contralateral and ipsilateral olivocochlear efferent-mediated suppression of the cochlear amplifier were absent in Prph null mice.
Title: Type II spiral ganglion afferent neurons drive medial olivocochlear reflex suppression of the cochlear amplifier.
Data suggest anti-peripherin (PRPH) B cells represent a heterogeneous population that is generated early in life but proliferates as diabetes is established.
Title: In vivo detection of peripherin-specific autoreactive B cells during type 1 diabetes pathogenesis.
peripherin appears to be a participant in learning and memory impairment in mice
Title: The effects of bilateral common carotid artery occlusion on expression of peripherin and choline acetyltransferase activity in C57BL/6 mice.
rather than forming an independent structure, peripherin is a subunit of neurofilaments in the adult peripheral nervous system
Title: Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons.
Peripherin isoform expression and inclusion formation serve a physiologically relevant role in the pathology of amyotrophic lateral sclerosis.
Title: Isoform-specific expression and ratio changes accompany oxidant-induced peripherin aggregation in a neuroblastoma cell line.
Complex post-transcriptional processes may underlie the continuum between peripherin-mediated neuronal repair and its pathogenic role in a transgenic model of amyotrophic lateral sclerosis.
Title: Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease.
Peripherin may interact with other cytoskeletal elements to regulate outgrowth of the peripheral neurites of type II SGN, distinguishing these neurons from the type I SGN innervating the inner hair cells.
Title: Type III intermediate filament peripherin inhibits neuritogenesis in type II spiral ganglion neurons in vitro.
Anti-peripherin B lymphocytes are positively selected and primed in the course of type 1 diabetes development in NOD mice.
Title: Anti-peripherin B lymphocytes are positively selected during diabetogenesis.
In the adult mouse hindbrain, peripherin is expressed in discrete neuronal subpopulations that have sensory, motor and autonomic functions.
Title: Neuronal expression of peripherin, a type III intermediate filament protein, in the mouse hindbrain.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC104164P1 (e-PCR)
- UniSTS:270103

X59840 (e-PCR)
- UniSTS:180828

Prph1 (e-PCR), detects polymorphism
- UniSTS:144268

D15Mit42 (e-PCR), detects polymorphism
- UniSTS:127660

RH94483 (e-PCR)
- UniSTS:119731

Prph (e-PCR), detects polymorphism
- UniSTS:265678

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in C-fiber	IDA Inferred from Direct Assay more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info
is_active_in type III intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in type III intermediate filament	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: peripherin

Names: peripherin 1

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_001163588.2 → NP_001157060.1 peripherin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2) shorter by 1 aa compared to isoform 1.

Source sequence(s)

AC157610

Consensus CDS

CCDS88838.1

UniProtKB/Swiss-Prot

O35688, O35689, P15331

UniProtKB/TrEMBL

A0A2R8W6R6

Related

ENSMUSP00000155294.2, ENSMUST00000230021.2

Conserved Domains (3) summary

pfam00038
Location:100 → 442

Filament; Intermediate filament protein

pfam04732
Location:22 → 99

Filament_head; Intermediate filament head (DNA binding) region

cl01461
Location:271 → 410

DUF2239; Uncharacterized protein conserved in bacteria (DUF2239)
NM_001163589.2 → NP_001157061.1 peripherin isoform 3

See identical proteins and their annotated locations for NP_001157061.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) is alternatively spliced in the mid-region compared to variant 1. However, it remains in-frame and encodes a shorter isoform (3) missing a 32 aa protein segment compared to isoform 1.

Source sequence(s)

AC157610

Consensus CDS

CCDS49727.1

UniProtKB/Swiss-Prot

O35688, O35689, P15331

UniProtKB/TrEMBL

G5E846

Related

ENSMUSP00000024249.4, ENSMUST00000024249.5

Conserved Domains (2) summary

pfam00038
Location:100 → 410

Filament; Intermediate filament protein

pfam04732
Location:22 → 99

Filament_head; Intermediate filament head (DNA binding) region
NM_001411661.1 → NP_001398590.1 peripherin isoform 4

Status: VALIDATED

Source sequence(s)

AC157610

UniProtKB/Swiss-Prot

O35688, O35689, P15331
NM_001411662.1 → NP_001398591.1 peripherin isoform 5

Status: VALIDATED

Source sequence(s)

AC157610

UniProtKB/Swiss-Prot

O35688, O35689, P15331
NM_013639.3 → NP_038667.2 peripherin isoform 1

See identical proteins and their annotated locations for NP_038667.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1).

Source sequence(s)

AC157610

Consensus CDS

CCDS27813.1

UniProtKB/Swiss-Prot

O35688, O35689, P15331

UniProtKB/TrEMBL

G3X981

Related

ENSMUSP00000049303.8, ENSMUST00000047104.15

Conserved Domains (2) summary

pfam00038
Location:100 → 442

Filament; Intermediate filament protein

pfam04732
Location:22 → 99

Filament_head; Intermediate filament head (DNA binding) region

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_000081.7 Reference GRCm39 C57BL/6J

Range

98951452..98956858

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520631.5 → XP_006520694.1 peripherin isoform X1

See identical proteins and their annotated locations for XP_006520694.1

UniProtKB/Swiss-Prot

O35688, O35689, P15331

UniProtKB/TrEMBL

G3X981

Conserved Domains (2) summary

pfam00038
Location:100 → 442

Filament; Intermediate filament protein

pfam04732
Location:22 → 99

Filament_head; Intermediate filament head (DNA binding) region