• Gene id: 57716

Gene Summary

• Gene Symbol: PRX   Gene   UCSC   Ensembl
• Aliases: CMT4F
• Gene name: periaxin
• Alternate names: periaxin,
• Gene location: 19q13.2 (40414717: 40393761)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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 junc
• OMIM: 605725

Protein Summary

• Protein general information: Q9BXM0  
  • Name: Periaxin
  • Length: 1461  
  • Mass: 154905
  • Tissue specificity: Detected in spinal cord (PubMed
• Sequence:

  MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFVRELREDSPAARSLSLQEGDQLLSARVFFENF
  KYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEIKGPRAKVAKLNIQSLSPVKKKKMVPGALGVPAD
  LAPVDVEFSFPKFSRLRRGLKAEAVKGPVPAAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAKVEAEVAA
  GARFTAPQVELVGPRLPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLGAPAPPAVEAPAVGIQVPQVELPAL
  PSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVGVDLALPGAEVEARGEAPEVALKMPRLSFPRFGARAKEVAEA
  KVAKVSPEARVKGPRLRMPTFGLSLLEPRPAAPEVVESKLKLPTIKMPSLGIGVSGPEVKVPKGPEVKLPKAPEV
  KLPKVPEAALPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVQLLKV
  SEMKLPKVPEMAVPEVRLPEVQLPKVSEMKLPEVSEVAVPEVRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKL
  PEVQLPKVPEMAVPDVHLPEVQLPKVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLPKVPEMKLPKMPEMAV
  PEVRLPEVQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVPDMKLPEIKLPKVPEMAVPDVHLPEVQLPKV
  SEIRLPEMQVPKVPDVHLPKAPEVKLPRAPEVQLKATKAEQAEGMEFGFKMPKMTMPKLGRAESPSRGKPGEAGA
  EVSGKLVTLPCLQPEVDGEAHVGVPSLTLPSVELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPS
  VEIVTPQLPAVEIEEGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVSKFAISLPKARVGAEA
  EAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPRFALPKFGVRGRDTEAAELVPGVAELEGKGW
  GWDGRVKMPKLKMPSFGLARGKEAEVQGDRASPGEKAESTAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSG
  LKVSTAGQVVTEGHDAGLRMPPLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVA
  GGELLVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEGAEEQPPGAERTFCLS
  LPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGAEEGEKAKSPKLRLPRVGFSQSEMVTGEGSP
  SPEEEEEEEEEGSGEGASGRRGRVRVRLPRVGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGS
  GDQEEGGLRVRLPSVGFSETGAPGPARMEGAQAAAV

• Structural information:
  • Protein Domains: (16..9-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  
  • Prosite: PS50106
  • PDB: 4CMZ
  • PDBsum: 4CMZ
  • STRING: ENSP00000326018
• Other Databases: GeneCards:  PRX  Malacards:  PRX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008366	axon ensheathment	NAS	biological process
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0032287	peripheral nervous system myelin maintenance	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq