PRPH peripherin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPHprovided by HGNC
Official Full Name: peripherinprovided by HGNC
Primary source: HGNC:HGNC:9461
See related: Ensembl:ENSG00000135406 MIM:170710; AllianceGenome:HGNC:9461
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEF4; PRPH1
Summary: This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
Annotation information: Note: PRPH (Gene ID: 5630) and PRPH2 (Gene ID: 5961) share the PRPH symbol/alias in common. PRPH is sometimes used as an alternative name for peripherin 2 (PRPH2), which can be confused with the official symbol for peripherin (PRPH). [05 Jul 2018]
Expression: Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49295147..49298686)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49257338..49260877)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49688930..49692469)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation in the peripherin gene is associated cone-rod dysfunction or dominant maculopathy.
Title: Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Genome-wide association study of sural nerve conduction amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant in PRPH associated with reduced amplitude of the sural nerve action potential, but not with sural nerve conduction velocity.
Title: A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Desmin, Glial Fibrillary Acidic Protein, Vimentin, and Peripherin are type III intermediate filaments that have roles in health and disease [review]
Title: Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.
To discover of Phosphorylated autoantigens Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.
Title: Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.
In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones
Title: Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease.
interaction between disease-causing RAB7A mutants and peripherin could play an important role in Charcot-Marie-Tooth type 2B neuropathy
Title: Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
This work contributes to determine the role of PRPH gene variants in ALS. Further studies are necessary to define the mechanisms through which the mutant peripherin could cause ALS phenotype.
Title: A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
study analyzed expression of peripherin(PP) in the cochlea; in organ of Corti, PP seems to be specifically expressed in outer hair cell afferents; small or type II spiral ganglion cell bodies also intensely express PP
Title: Expression of peripherin in human cochlea.
although the mechanisms underlying peripherin co-localization in Bunina bodies are unknown, peripherin could be involved in forming these inclusions
Title: Peripherin partially localizes in Bunina bodies in amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 1 MedGen: C1862939 OMIM: 105400 GeneReviews: Amyotrophic Lateral Sclerosis Overview	Compare labs

EBI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:384860 (e-PCR)
- UniSTS:157111

STS-L14565 (e-PCR)
- UniSTS:76789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in intermediate filament	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in type III intermediate filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: peripherin

Names: neurofilament 4 (57kD)

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.

Genomic

NG_008354.1 RefSeqGene

Range

5022..8561

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006262.4 → NP_006253.2 peripherin

See identical proteins and their annotated locations for NP_006253.2

Status: REVIEWED

Source sequence(s)

AK125587, BC032703

Consensus CDS

CCDS8783.1

UniProtKB/Swiss-Prot

P41219, Q8N577

UniProtKB/TrEMBL

B3KWQ6

Related

ENSP00000257860.4, ENST00000257860.9

Conserved Domains (2) summary

pfam00038
Location:96 → 406

Filament; Intermediate filament protein

pfam04732
Location:13 → 95

Filament_head; Intermediate filament head (DNA binding) region