Homo sapiens Gene: PRX
Summary
InnateDB Gene IDBG-51460.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRX
Gene Name periaxin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000105227
Encoded Proteins
periaxin
periaxin
Protein Structure
Entrez Gene
Summary This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:40393768-40413366
Strand Reverse strand
Band q13.2
Transcripts
ENST00000291825 ENSP00000291825
ENST00000324001 ENSP00000326018
ENST00000599513
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [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:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
GO:0008366 axon ensheathment
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9BXM0
TrEMBL
UniProt Splice Variant
Entrez Gene 57716
UniGene Hs.205457
RefSeq NM_020956 NM_181882
HUGO HGNC:13797
OMIM 605725
CCDS CCDS12556 CCDS33028
HPRD 05758
IMGT
EMBL AB046840 AC010271 AF321191 AF321192 BC067266
GenPept AAH67266 AAK19279 AAK19280 BAB13446
ImmGen PRX (murine)
RNA Seq Atlas 57716