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FLASH GENE

Symbol

PRPH

contributors: mct/npt - updated : 26-11-2021

HGNC name	peripherin
HGNC id	9461

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MDBS3 macular dystrophy, butterfly shaped pigmentary 3
Location	12q13.12      Physical location : 49.688.908 - 49.692.480
Synonym name	neurofilament 4 (57kD)
Synonym symbol(s)	NEF4, PRPH1

DNA

TYPE	functioning gene
STRUCTURE	3.57 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006262 9 - 1833 NP_006253 58 470 expression in the normal nervous system is characterized by tissue-specific Per-58 : Per-45 isoform ratios 2017 29196434 PER-28 - - - isoform 2 28 - - 2017 29196434 also called PER28 transcript retaining introns 3 and 4 that results in a 28 kDa splice isoform PER-45 - - - 45 - - 2017 29196434 required for normal network formation, with the absence of Per-45 leading to irregular filamentous structures

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly   salivary gland       highly Hearing/Equilibrium ear inner cochlea Corti   Homo sapiens Nervous brain       highly Visual eye retina

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY	tetraspanin family
	intermediate filament family, type III

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	a type III intermediate filament protein found in the peripheral nervous system neurons
	component of ubiquitinated inclusions and of axonal spheroids in amyotrophic lateral sclerosis (ALS)
	neuronal intermediate filament protein detected within the intraneuronal inclusions characteristic of amyotrophic lateral sclerosis (McLean 2008)
	peripherin plays a role not only in neurite outgrowth during development but also in axonal regeneration after injury
	intermediate filament (IF) protein involved in cytoskeletal development and maintenance of neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

its phosophrylation may play a role in motor nerve regeneration

a component

INTERACTION

DNA

RNA

small molecule

protein	SYNC might function to modulate formation of PRPH filament networks through binding to peripherin isoforms
	B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
	is an intermediate filament protein expressed primarily in peripheral neurons, as a putative RAB7A interacting protein, and RAB7A is important for peripherin organization and function

cell & other

REGULATION

induced by

phosphorylation by Akt

ASSOCIATED DISORDERS

corresponding disease(s)

MDBS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of Peripherin 28 (transcript retaining introns 3 and 4 that results in a 28 kDa splice isoform) expression in ALS compared with controls, at both the mRNA and protein levels, and that Per 28 is associated with disease pathology, specifically round inclusions (Simonelli 2007)

Susceptibility

to amyotrophic lateral sclerosis to peripheral neuropathy

Variant & Polymorphism other	frameshift peripherin mutant (1-bp deletion within exon 1 (PRPH(228delC)), predicting a truncated peripherin species of 85 amino acids) resulted in disruption of neurofilament network assembly and in amyotrophic lateral sclerosis
	PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

Candidate gene
Marker	can be used as a marker for the characterization of the innervation of the outer (OHCs) hair cells system
	marker of Hirschsprung disease (HD) (may be most helpful in identifying transition zones)
Therapy target

ANIMAL & CELL MODELS