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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 category
TCGA (cancer tissue):Mixed
HPA (cell line):Group enriched (AN3-CA, SCLC-21H)
HPA (normal tissue):Tissue enhanced (adrenal gland)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Distinct cytoplasmic expression in peripheral nerves and ganglion cells.

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA039277
HPA063887
CAB002437

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
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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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
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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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
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
GO:0045098 [type III intermediate filament]
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 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.