Property Summary

NCBI Gene PubMed Count 37
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 1.2e-05
osteosarcoma 1.987 1.1e-03
atypical teratoid / rhabdoid tumor 2.200 3.4e-03
glioblastoma 1.400 2.5e-04
sonic hedgehog group medulloblastoma 1.900 3.7e-03
medulloblastoma, large-cell 2.000 2.0e-05
colon cancer -3.200 1.6e-03
adult high grade glioma 1.700 1.1e-02
posterior fossa group A ependymoma 1.600 7.4e-04
psoriasis -1.200 8.2e-26

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.
17851265 Novel C165R mutation of retinal degeneration slow/peripherin gene in family affected by different patterns of retinal dystrophy.
17569669 peripherin is a novel substrate for Akt in vivo and its phosphorylation may play a role in motor nerve regeneration
16787413 Peripherin overexpression in transgenic mice can cause defective transport of type IV neurofilament proteins, a phenomenon that may account for the progressive formation of amyotrophic lateral sclerosis-like spheroids in axons.
15322088 Observational study of gene-disease association. (HuGE Navigator)
14675609 The data of this experiment document the expression of peripherin in Lewy body-like inclusions , which may provide a clue to the pathogenesis of neurodegeneration in ALS.
11835375 Observational study of genotype prevalence. (HuGE Navigator)

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.
19946888 2010 Defining the membrane proteome of NK cells.
18709437 2008 Transgenic mice expressing the Peripherin-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence.
18528283 2008 A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas.
18408015 2008 Protein kinase Cepsilon binds peripherin and induces its aggregation, which is accompanied by apoptosis of neuroblastoma cells.
18287500 2008 An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology.
17851265 2007 Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.
17569669 2007 Identification of peripherin as a Akt substrate in neurons.
16787413 2006 Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin.
16541075 2006 The finished DNA sequence of human chromosome 12.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15322088 2004 A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14675609 2004 Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12403814 2002 Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density.
12358815 2002 Desmoplastic and spindle cell melanomas express protein markers of the neural crest but not of later committed stages of Schwann cell differentiation.
12223549 2002 Intron 1 is required for cell type-specific, but not injury-responsive, peripherin gene expression.
11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
10728817 2000 Expression of the intermediate filament peripherin in extraskeletal myxoid chondrosarcoma.
9453548 1998 Peripherin is tyrosine-phosphorylated at its carboxyl-terminal tyrosine.
9414188 1997 Differential expression of the intermediate filament peripherin in cutaneous neural lesions and neurotized melanocytic nevi.
9085149 1997 The intermediate filament peripherin is expressed in cutaneous melanocytic lesions.
8381395 1993 Expression and distribution of peripherin protein in human neuroblastoma cell lines.
7976309 1994 Distribution of cytoskeletal proteins (neurofilaments, peripherin and MAP-tau) in the cochlea of the human fetus.
7806235 1994 The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements.
7622044 1995 Transcriptional activation of the neuronal peripherin-encoding gene depends on a G + C-rich element that binds Sp1 in vitro and in vivo.
1986862 1991 Network antibodies identify nuclear lamin B as a physiological attachment site for peripherin intermediate filaments.
1378416 1992 Chromosomal localisation of the mouse and human peripherin genes.