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Aliases for PRPH Gene

Aliases for PRPH Gene

  • Peripherin 2 3
  • PRPH1 3 4
  • NEF4 3 4
  • Neurofilament 4 (57kD) 3
  • Neurofilament 4 4

External Ids for PRPH Gene

Previous Symbols for PRPH Gene

  • NEF4

Summaries for PRPH Gene

Entrez Gene Summary for PRPH Gene

  • 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]

GeneCards Summary for PRPH Gene

PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include macular dystrophy, vitelliform, 3 and macular dystrophy, patterned, 1. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot for PRPH Gene

  • Class-III neuronal intermediate filament protein

Gene Wiki entry for PRPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPH Gene

Genomics for PRPH Gene

Genomic Location for PRPH Gene

Start:
49,293,252 bp from pter
End:
49,298,698 bp from pter
Size:
5,447 bases
Orientation:
Plus strand

Genomic View for PRPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPH Gene

Regulatory Elements for PRPH Gene

Proteins for PRPH Gene

  • Protein details for PRPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41219-PERI_HUMAN
    Recommended name:
    Peripherin
    Protein Accession:
    P41219
    Secondary Accessions:
    • Q8N577

    Protein attributes for PRPH Gene

    Size:
    470 amino acids
    Molecular mass:
    53651 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PRPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPH Gene

Proteomics data for PRPH Gene at MOPED

Post-translational modifications for PRPH Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys288 and Lys398

Other Protein References for PRPH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPH Gene

Domains for PRPH Gene

Gene Families for PRPH Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

UniProtKB/Swiss-Prot:

PERI_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • P41219
genes like me logo Genes that share domains with PRPH: view

Function for PRPH Gene

Molecular function for PRPH Gene

GENATLAS Biochemistry: peripherin,neuronal,intermediate filament associated protein (IFAP,type III)
UniProtKB/Swiss-Prot Function: Class-III neuronal intermediate filament protein

Gene Ontology (GO) - Molecular Function for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PRPH: view
genes like me logo Genes that share phenotypes with PRPH: view

miRNA for PRPH Gene

miRTarBase miRNAs that target PRPH

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PRPH Gene

Localization for PRPH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPH Gene COMPARTMENTS Subcellular localization image for PRPH gene
Compartment Confidence
cytoskeleton 4
cytosol 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament TAS 1378416
GO:0005883 neurofilament IEA --
GO:0016020 membrane IDA 19946888
GO:0030424 axon --
GO:0042622 photoreceptor outer segment membrane IEA --
genes like me logo Genes that share ontologies with PRPH: view

Pathways for PRPH Gene

genes like me logo Genes that share pathways with PRPH: view

Pathways by source for PRPH Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for PRPH Gene
1 BioSystems pathway for PRPH Gene
1 KEGG pathway for PRPH Gene

Gene Ontology (GO) - Biological Process for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045104 intermediate filament cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with PRPH: view

Transcripts for PRPH Gene

mRNA/cDNA for PRPH Gene

Unigene Clusters for PRPH Gene

Peripherin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PRPH Gene

GeneLoc Exon Structure for
PRPH
ECgene alternative splicing isoforms for
PRPH

Expression for PRPH Gene

mRNA expression in normal human tissues for PRPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPH Gene

This gene is overexpressed in Testis (8.9) and Colon - Sigmoid (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPH Gene

SOURCE GeneReport for Unigene cluster for PRPH Gene Hs.37044

genes like me logo Genes that share expressions with PRPH: view

Orthologs for PRPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPH 36
  • 99.93 (n)
  • 100 (a)
PRPH 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRPH 36
  • 92.57 (n)
  • 96.54 (a)
PRPH 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPH 36
  • 93.43 (n)
  • 97.22 (a)
PRPH 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prph 36
  • 89.61 (n)
  • 95.7 (a)
Prph 16
Prph 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRPH 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPH 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prph 36
  • 90.72 (n)
  • 96.57 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PRPH 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia plasticin-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia prph 36
  • 67.33 (n)
  • 72.31 (a)
zebrafish
(Danio rerio)
Actinopterygii plasticin 36
prph 36
  • 67.15 (n)
  • 64.99 (a)
prph 37
  • 64 (a)
OneToOne
Species with no ortholog for PRPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRPH Gene

ENSEMBL:
Gene Tree for PRPH (if available)
TreeFam:
Gene Tree for PRPH (if available)

Paralogs for PRPH Gene

Paralogs for PRPH Gene

genes like me logo Genes that share paralogs with PRPH: view

Variants for PRPH Gene

Structural Variations from Database of Genomic Variants (DGV) for PRPH Gene

Variant ID Type Subtype PubMed ID
esv25113 CNV Gain 19812545
nsv826367 CNV Gain 20364138

Relevant External Links for PRPH Gene

HapMap Linkage Disequilibrium report
PRPH
Human Gene Mutation Database (HGMD)
PRPH

No data available for Sequence variations from dbSNP and Humsavar for PRPH Gene

Disorders for PRPH Gene

(1) OMIM Diseases for PRPH Gene (170710)

Relevant External Links for PRPH

Genetic Association Database (GAD)
PRPH
Human Genome Epidemiology (HuGE) Navigator
PRPH
genes like me logo Genes that share disorders with PRPH: view

No data available for UniProtKB/Swiss-Prot for PRPH Gene

Publications for PRPH Gene

  1. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. (PMID: 15322088) Gros-Louis F. … Julien J.P. (J. Biol. Chem. 2004) 3 49
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements. (PMID: 7806235) Foley J. … Parysek L.M. (Genomics 1994) 3 4
  4. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 49
  5. Chromosomal localisation of the mouse and human peripherin genes. (PMID: 1378416) Moncla A. … Portier M.M. (Genet. Res. 1992) 2 3

Products for PRPH Gene

Sources for PRPH Gene

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