PRPH - peripherin Gene

Also Known as NEF4; PRPH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5630

About PRPH

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,295,147-49,298,686 (from NCBI)

This gene has 6 transcripts (splice variants), 190 orthologues, 68 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues.

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]

PRPH Products (1)

mRNA	Protein	Name
NM_006262.4	NP_006253.2	peripherin

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21900206	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRPH Protein Structure

Filament_head

Filament

0
100
200
300
400
470 a.a.

Protein Preferred Names	Protein Names
peripherin	neurofilament 4 (57kD)

PRPH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRPH	P41219	ZNF572	Homo sapiens	Q7Z3I7	Validated Y2H	32296183
Intra	PRPH	P41219	DES	Homo sapiens	P17661	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	DES	Homo sapiens	P17661	Y2H Array	32296183
Intra	PRPH	P41219	PPP1R13B	Homo sapiens	Q96KQ4	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	PPP1R13B	Homo sapiens	Q96KQ4	Validated Y2H	32296183
Intra	PRPH	P41219	PPP1R13B	Homo sapiens	Q96KQ4	Y2H Array	32296183
Intra	PRPH	P41219	FCHO1	Homo sapiens	A0A0C3SFZ9	Y2H Array	32296183
Intra	PRPH	P41219	FCHO1	Homo sapiens	A0A0C3SFZ9	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	PRKAA2	Homo sapiens	P54646	Validated Y2H	32296183
Intra	PRPH	P41219	KIFC3	Homo sapiens	Q9BVG8-5	Validated Y2H	32296183
Intra	PRPH	P41219	PPP1R18	Homo sapiens	Q6NYC8	Validated Y2H	32296183
Intra	PRPH	P41219	ZMAT2	Homo sapiens	Q96NC0	Validated Y2H	32296183
Intra	PRPH	P41219	KRT75	Homo sapiens	O95678	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT75	Homo sapiens	O95678	Y2H Array	32296183
Intra	PRPH	P41219	KRT24	Homo sapiens	Q2M2I5	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT24	Homo sapiens	Q2M2I5	Validated Y2H	32296183
Intra	PRPH	P41219	KRT24	Homo sapiens	Q2M2I5	Y2H Array	32296183
Intra	PRPH	P41219	CDC37	Homo sapiens	Q16543	Validated Y2H	32296183
Intra	PRPH	P41219	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	PRPH	P41219	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	PRPH	P41219	PIAS2	Homo sapiens	O75928-2	Y2H Array	32296183
Intra	PRPH	P41219	PIAS2	Homo sapiens	O75928-2	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	VIM	Homo sapiens	P08670	Y2H	21900206
Intra	PRPH	P41219	VIM	Homo sapiens	P08670	Y2H Array	32296183
Intra	PRPH	P41219	VIM	Homo sapiens	P08670	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT16	Homo sapiens	P08779	Y2H Array	32296183
Intra	PRPH	P41219	KRT16	Homo sapiens	P08779	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	TCP10L	Homo sapiens	Q8TDR4	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	TCP10L	Homo sapiens	Q8TDR4	Y2H Array	32296183
Intra	PRPH	P41219	TCP10L	Homo sapiens	Q8TDR4	Validated Y2H	32296183
Intra	PRPH	P41219	NXF1	Homo sapiens	Q9UBU9	Validated Y2H	32296183
Intra	PRPH	P41219	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
Intra	PRPH	P41219	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	PRPH	P41219	CT55	Homo sapiens	Q8WUE5	Validated Y2H	32296183
Intra	PRPH	P41219	KRT14	Homo sapiens	P02533	Y2H Array	32296183
Intra	PRPH	P41219	KRT14	Homo sapiens	P02533	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	TCEA2	Homo sapiens	Q15560	Validated Y2H	32296183
Intra	PRPH	P41219	LENG1	Homo sapiens	Q96BZ8	Validated Y2H	32296183
Intra	PRPH	P41219	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	PRPH	P41219	KRT19	Homo sapiens	P08727	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT19	Homo sapiens	P08727	Y2H Array	32296183
Intra	PRPH	P41219	MAGOHB	Homo sapiens	Q96A72	Validated Y2H	32296183
Intra	PRPH	P41219	ZC4H2	Homo sapiens	Q9NQZ6	Validated Y2H	32296183
Intra	PRPH	P41219	ZC4H2	Homo sapiens	Q9NQZ6	Y2H Array	32296183
Intra	PRPH	P41219	ZC4H2	Homo sapiens	Q9NQZ6	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	LCA5L	Homo sapiens	O95447	Y2H Array	32296183
Intra	PRPH	P41219	LCA5L	Homo sapiens	O95447	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	TTC23	Homo sapiens	Q5W5X9-3	Validated Y2H	32296183
Intra	PRPH	P41219	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	PRPH	P41219	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	PRPH	P41219	KRT31	Homo sapiens	Q15323	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PRPH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85696	Peripherin Antibody (YA5388)	WB	Human, Rat

Related Diseases

Diseases	Alias
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	FTDALS2 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2 Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2
Amyotrophic Lateral Sclerosis Type 22	Als 22 Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	FTDALS3 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3 Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	FTDALS4 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4 Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
Amyotrophic Lateral Sclerosis 19	Amyotrophic Lateral Sclerosis Type 19 ALS19 Sclerosis, Lateral, Amyotrophic, Type 19
Amyotrophic Lateral Sclerosis 20	Amyotrophic Lateral Sclerosis Type 20 ALS20 Sclerosis, Lateral, Amyotrophic, Type 20
Amyotrophic Lateral Sclerosis 21	Amyotrophic Lateral Sclerosis Type 21 ALS21 Multisystem Proteinopathy 5 Msp5 Distal Myopathy With Vocal Cord Weakness Vcpdm Myopathy, Distal, 2, Formerly Mpd2, Formerly Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly Vcpdm, Formerly Vocal Cord And Pharyngeal Distal Myopathy Matr3-Related Distal Myopathy Distal Myopathy 2 Mpd2 Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy Sclerosis, Lateral, Amyotrophic, Type 21 Myopathy, Distal 2
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11217	PRPH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11218	PRPH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRPH	VGNC	VGNC:33384
Macaca mulatta	PRPH	VGNC	VGNC:100093
Felis catus	PRPH	VGNC	VGNC:69082
Canis familiaris	PRPH	VGNC	VGNC:45031
Rattus norvegicus	PRPH	RGD	RGD:3414
Mus musculus	PRPH	MGD	MGI:97774
Others	PRPH	NCBI