Homo sapiens Gene: PRX

Summary
InnateDB Gene IDBG-51460.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol PRX
Gene Name periaxin
Synonyms CMT4F
Species Homo sapiens
Ensembl Gene ENSG00000105227
Encoded Proteins
IDBP-51462 periaxin
IDBP-51464 periaxin
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: 40899675-40919273
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 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein‑Protein  17
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008366 axon ensheathment
GO:0021675 nerve development
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0043209 myelin sheath
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000053198 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000017333 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9BXM0 
TrEMBL
UniProt Splice Variant
Entrez Gene 57716 
UniGene Hs.205457
RefSeq NM_020956  NM_181882 
HUGO 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