Description: Homo sapiens periaxin (PRX), transcript variant 2, mRNA. RefSeq Summary (NM_181882): 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]. Transcript (Including UTRs) Position: hg19 chr19:40,899,671-40,910,195 Size: 10,525 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr19:40,899,873-40,903,841 Size: 3,969 Coding Exon Count: 1
ID:PRAX_HUMAN DESCRIPTION: RecName: Full=Periaxin; FUNCTION: Seems to be required for maintenance of peripheral nerve myelin sheath. May have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane. May have a role in the early phases of myelin deposition. SUBUNIT: Interacts with SCN10A. Found in a complex with SCN10A. INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1753064, EBI-389883; SUBCELLULAR LOCATION: Nucleus (By similarity). SUBCELLULAR LOCATION: Isoform 1: Cell membrane (By similarity). Note=Associated with plasma membrane during myelination (By similarity). SUBCELLULAR LOCATION: Isoform 2: Cytoplasm (By similarity). TISSUE SPECIFICITY: Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells. DOMAIN: Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains. DOMAIN: The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal. DISEASE: Defects in PRX are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. SIMILARITY: Belongs to the periaxin family. SIMILARITY: Contains 1 PDZ (DHR) domain. SEQUENCE CAUTION: Sequence=BAB13446.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB13446.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRX";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PRX CDC HuGE Published Literature: PRX
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BXM0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.