Property Summary

NCBI Gene PubMed Count 37
Grant Count 5
Funding $310,540.65
PubMed Score 3.00
PubTator Score 216.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Multiple myeloma -1.059 0.000
osteosarcoma 1.987 0.001
atypical teratoid / rhabdoid tumor 2.200 0.003
glioblastoma 1.400 0.000
sonic hedgehog group medulloblastoma 1.900 0.004
medulloblastoma, large-cell 2.000 0.000
colon cancer -3.200 0.002
adult high grade glioma 1.700 0.011
posterior fossa group A ependymoma 1.600 0.001
psoriasis -1.200 0.000

Gene RIF (16)

PMID Text
23179371 interaction between disease-causing RAB7A mutants and peripherin could play an important role in Charcot-Marie-Tooth type 2B neuropathy
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
21241994 although the mechanisms underlying peripherin co-localization in Bunina bodies are unknown, peripherin could be involved in forming these inclusions
21088854 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
20533992 Transgenic peripherin isoform expression reveals post-transcriptional changes to the normal expression pattern associated with malformed filaments and intracellular inclusions underlying a role in the pathogenesis of amyotrophic lateral sclerosis.
20363051 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.
18709437 Transgenic mice expressing the PRPH-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence.
18528283 Expression of the 2 markers, peripherin and alpha-internexin, in a small round cell tumor strongly favors the diagnosis of neuroblastoma.
18408015 PKCepsilon through its interaction with peripherin facilitates its aggregation and subsequent cell death
18287500 Peripherin splicing abnormalities occur in amyotrophic lateral sclerosis generating aggregation-prone splice isoforms, one of which causes peripherin aggregation when its expression is upregulated.
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AA Sequence

MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGAL      1 - 70
LRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARA     71 - 140
DQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLS    141 - 210
RLELERKIESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNL    211 - 280
QEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALE    281 - 350
AGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIK    351 - 420
TTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY                        421 - 470
//

Text Mined References (39)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23179371 2013 Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21900206 2011 A directed protein interaction network for investigating intracellular signal transduction.
21743467 2011 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
21241994 2011 Peripherin partially localizes in Bunina bodies in amyotrophic lateral sclerosis.
21088854 2010 Expression of peripherin in human cochlea.
20533992 2010 Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease.
20363051 2011 A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
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