Human Gene PRX (uc002onq.3)
  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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:40,899,671-40,910,195)mRNA (may differ from genome)Protein (1322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  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

-  MalaCards Disease Associations
  MalaCards Gene Search: PRX
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 4f* (1578), dejerine-sottas disease* (640), congenital hypomyelination neuropathy* (283), neuropathy, congenital hypomyelinating* (183), charcot-marie-tooth neuropathy type 1* (179), charcot-marie-tooth neuropathy type 4f* (100), hereditary neuropathies (13), charcot-marie-tooth disease (13), charcot-marie-tooth disease, type 4a (7), sensory peripheral neuropathy (7), amyotrophic neuralgia (7), charcot-marie-tooth disease, type 4b2 (7), neuropathy (6), charcot-marie-tooth disease, type 4b1 (6), tooth disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 262.66 RPKM in Nerve - Tibial
Total median expression: 387.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -387.73816-0.475 Picture PostScript Text
3' UTR -75.80202-0.375 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ

ModBase Predicted Comparative 3D Structure on Q9BXM0
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0008366 axon ensheathment

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  AB046840 - Homo sapiens mRNA for KIAA1620 protein, partial cds.
AF321191 - Homo sapiens L-periaxin (PRX) mRNA, complete cds, alternatively spliced.
AF321192 - Homo sapiens S-periaxin (PRX) mRNA, complete cds, alternatively spliced.
BC067266 - Homo sapiens periaxin, mRNA (cDNA clone MGC:74886 IMAGE:6177899), complete cds.
JD151265 - Sequence 132289 from Patent EP1572962.
JD271771 - Sequence 252795 from Patent EP1572962.
JD477374 - Sequence 458398 from Patent EP1572962.
JD403857 - Sequence 384881 from Patent EP1572962.
JD537596 - Sequence 518620 from Patent EP1572962.
JD192001 - Sequence 173025 from Patent EP1572962.
JD457003 - Sequence 438027 from Patent EP1572962.
JD181153 - Sequence 162177 from Patent EP1572962.
JD152504 - Sequence 133528 from Patent EP1572962.
JD445045 - Sequence 426069 from Patent EP1572962.
JD471389 - Sequence 452413 from Patent EP1572962.
JD471406 - Sequence 452430 from Patent EP1572962.
JD138748 - Sequence 119772 from Patent EP1572962.
JD335796 - Sequence 316820 from Patent EP1572962.
JD104534 - Sequence 85558 from Patent EP1572962.
JD383491 - Sequence 364515 from Patent EP1572962.
JD387449 - Sequence 368473 from Patent EP1572962.
JD123667 - Sequence 104691 from Patent EP1572962.
JD379358 - Sequence 360382 from Patent EP1572962.
JD368991 - Sequence 350015 from Patent EP1572962.
JD526128 - Sequence 507152 from Patent EP1572962.
JD177012 - Sequence 158036 from Patent EP1572962.
JD236930 - Sequence 217954 from Patent EP1572962.
JD374295 - Sequence 355319 from Patent EP1572962.
JD400549 - Sequence 381573 from Patent EP1572962.
JD419504 - Sequence 400528 from Patent EP1572962.
JD157977 - Sequence 139001 from Patent EP1572962.
JD161927 - Sequence 142951 from Patent EP1572962.
JD318493 - Sequence 299517 from Patent EP1572962.
JD161086 - Sequence 142110 from Patent EP1572962.
JD480750 - Sequence 461774 from Patent EP1572962.
JD497369 - Sequence 478393 from Patent EP1572962.
JD162681 - Sequence 143705 from Patent EP1572962.
JD170517 - Sequence 151541 from Patent EP1572962.
JD073920 - Sequence 54944 from Patent EP1572962.
JD177771 - Sequence 158795 from Patent EP1572962.
JD340014 - Sequence 321038 from Patent EP1572962.
JD457113 - Sequence 438137 from Patent EP1572962.
JD466455 - Sequence 447479 from Patent EP1572962.
JD448494 - Sequence 429518 from Patent EP1572962.
JD544496 - Sequence 525520 from Patent EP1572962.
JD122223 - Sequence 103247 from Patent EP1572962.
JD210086 - Sequence 191110 from Patent EP1572962.
JD547062 - Sequence 528086 from Patent EP1572962.
JD161218 - Sequence 142242 from Patent EP1572962.
JD086660 - Sequence 67684 from Patent EP1572962.
JD533175 - Sequence 514199 from Patent EP1572962.
JD497614 - Sequence 478638 from Patent EP1572962.
JD046018 - Sequence 27042 from Patent EP1572962.
JD361104 - Sequence 342128 from Patent EP1572962.
JD133339 - Sequence 114363 from Patent EP1572962.
JD081321 - Sequence 62345 from Patent EP1572962.
JD497037 - Sequence 478061 from Patent EP1572962.
JD409214 - Sequence 390238 from Patent EP1572962.
JD305515 - Sequence 286539 from Patent EP1572962.
JD410183 - Sequence 391207 from Patent EP1572962.
JD222351 - Sequence 203375 from Patent EP1572962.
JD474438 - Sequence 455462 from Patent EP1572962.
JD337334 - Sequence 318358 from Patent EP1572962.
DQ588225 - Homo sapiens piRNA piR-55337, complete sequence.
JD185957 - Sequence 166981 from Patent EP1572962.
JD474239 - Sequence 455263 from Patent EP1572962.
JD535592 - Sequence 516616 from Patent EP1572962.
JD473211 - Sequence 454235 from Patent EP1572962.
JD382638 - Sequence 363662 from Patent EP1572962.
JD446648 - Sequence 427672 from Patent EP1572962.
JD193643 - Sequence 174667 from Patent EP1572962.
JD303875 - Sequence 284899 from Patent EP1572962.
JD448967 - Sequence 429991 from Patent EP1572962.
JD492444 - Sequence 473468 from Patent EP1572962.
JD037339 - Sequence 18363 from Patent EP1572962.
JD382645 - Sequence 363669 from Patent EP1572962.
JD332612 - Sequence 313636 from Patent EP1572962.
DQ591715 - Homo sapiens piRNA piR-58827, complete sequence.
JD087409 - Sequence 68433 from Patent EP1572962.
JD230865 - Sequence 211889 from Patent EP1572962.
DQ591715 - Homo sapiens piRNA piR-58827, complete sequence.
JD087409 - Sequence 68433 from Patent EP1572962.
DQ591715 - Homo sapiens piRNA piR-58827, complete sequence.
JD087409 - Sequence 68433 from Patent EP1572962.
JD137876 - Sequence 118900 from Patent EP1572962.
JD230420 - Sequence 211444 from Patent EP1572962.
JD468053 - Sequence 449077 from Patent EP1572962.
JD391715 - Sequence 372739 from Patent EP1572962.
JD432268 - Sequence 413292 from Patent EP1572962.
JD164319 - Sequence 145343 from Patent EP1572962.
JD381135 - Sequence 362159 from Patent EP1572962.
JD322482 - Sequence 303506 from Patent EP1572962.
JD220178 - Sequence 201202 from Patent EP1572962.
JD283763 - Sequence 264787 from Patent EP1572962.
JD419322 - Sequence 400346 from Patent EP1572962.
JD293638 - Sequence 274662 from Patent EP1572962.
JD403110 - Sequence 384134 from Patent EP1572962.
JD192349 - Sequence 173373 from Patent EP1572962.
JD362082 - Sequence 343106 from Patent EP1572962.
CU688262 - Synthetic construct Homo sapiens gateway clone IMAGE:100023213 5' read PRX mRNA.
JD073440 - Sequence 54464 from Patent EP1572962.
JD372406 - Sequence 353430 from Patent EP1572962.
JD117977 - Sequence 99001 from Patent EP1572962.
JD276381 - Sequence 257405 from Patent EP1572962.
JD280390 - Sequence 261414 from Patent EP1572962.
JD526052 - Sequence 507076 from Patent EP1572962.
JD137085 - Sequence 118109 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AB046840, KIAA1620, NM_181882, NP_870998, PRAX_HUMAN, Q9BXL9, Q9BXM0, Q9HCF2
UCSC ID: uc002onq.3
RefSeq Accession: NM_181882
Protein: Q9BXM0 (aka PRAX_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PRX:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB046840.1
exon count: 3CDS single in 3' UTR: no RNA size: 4790
ORF size: 3969CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 5835.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 426# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.