Version 5.4
Homo sapiens Gene: PRPH
Summary
InnateDB Gene IDBG-31354.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRPH
Gene Name peripherin
Synonyms NEF4; PRPH1
Species Homo sapiens
Ensembl Gene ENSG00000135406
Encoded Proteins
IDBP-31356
peripherin
IDBP-374393
peripherin
IDBP-602770
peripherin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:49293252-49298686
Strand Forward strand
Band q13.12
Transcripts
ENST00000257860 ENSP00000257860
ENST00000451891 ENSP00000408897
ENST00000551194
ENST00000533401
ENST00000537252
ENST00000532332 ENSP00000437182
ENST00000530631
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0045104 intermediate filament cytoskeleton organization
Cellular Component
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000023484
View Gene Order
ENSBTAG00000017864
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.37044 Hs.641029 Hs.737496
RefSeq NM_006262 XM_005269025
HUGO
OMIM
CCDS CCDS8783
HPRD 01365
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca