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PRPH

GENERAL INFORMATION

Gene name

 PRPH

Gene description

 Peripherin

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (adrenal gland)
GTEx:Tissue enhanced (testis)
FANTOM5:Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

Protein expression

 Distinct cytoplasmic expression in peripheral nerves and ganglion cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA039277 , HPA063887 , CAB002437
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Rectum

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)

GENE INFORMATION

Gene name

 PRPH (HGNC Symbol)

Synonyms

 NEF4, PRPH1

Description

 Peripherin (HGNC Symbol)

Entrez gene 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]

Chromosome

 12

Cytoband

 q13.12

Chromosome location (bp)

 49293252 - 49298686

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135406 (version 83.38)

Entrez gene

 5630

UniProt

 P41219 (UniProt - Evidence at protein level)

neXtProt

 NX_P41219

Antibodypedia

 PRPH antibodies

PROTEIN BROWSER
PRPH-001
PRPH-002
PRPH-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PRPH-001
ENSP00000257860
ENST00000257860
P41219 [Direct mapping]
Peripherin
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
GO:0005882 [intermediate filament]
GO:0005883 [neurofilament]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0042622 [photoreceptor outer segment membrane]
GO:0044299 [C-fiber]
GO:0045098 [type III intermediate filament]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0046982 [protein heterodimerization activity]
GO:0070062 [extracellular exosome]
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 470 aa
53.7 kDa 		No 0
PRPH-002
ENSP00000408897
ENST00000451891
F8W835 [Direct mapping]
Peripherin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
GO:0045098 [type III intermediate filament]
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 207 aa
24.5 kDa 		No 0
PRPH-004
ENSP00000437182
ENST00000532332
H7C5W5 [Direct mapping]
Peripherin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
GO:0045098 [type III intermediate filament]
Show all
 200 aa
22.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.