Protein: Periaxin (O55103)
Organism: Mus musculus (Mouse)
Function: Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.
Subcellular location: Cell membrane {ECO:0000269|PubMed:21745462}. Cell junction {ECO:0000269|PubMed:21745462}. Note=Colocalizes with ACTB at tricellular junctions between eye lens fiber cells. {ECO:0000269|PubMed:21745462}.; SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000269|PubMed:9488714}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus {ECO:0000269|PubMed:10671475}. Cytoplasm {ECO:0000250|UniProtKB:Q9BXM0}. Note=Detected in the Schwann cell nucleus prior to the onset of myelination (PubMed:10671475). Detected in Schwann cells at periaxonal myelin membranes. Associated with the cell membrane during myelination (PubMed:9488714). {ECO:0000269|PubMed:10671475, ECO:0000269|PubMed:9488714}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:10671475, ECO:0000269|PubMed:9488714}.
Sequence: MEARSRSAEELRRAELVEIIVETEAQTGVSGFNVAGGGKEGIFVRELREDSPAAKSLSLQEGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEMKGPRAKVAKLNIQSLAPVKKKKMVTGALGTPADLAPVDVEFSFPKFSRLRRGLKAEAVKGPVPAAPARRRLQLPRLRVREVAEEAQVARMAAAAPPPRKAKAEAEAATGAGFTAPQIELVGPRLPSAEVGVPQVSVPKGTPSTEAASGFALHLPTLGLGAPAAPAVEPPATGIQVPQVELPTLPSLPTLPTLPCLDTQEGAAVVKVPTLDVAAPSMGVDLALPGAEVEAQGEVPEVALKMPRLSFPRFGIRGKEATEAKVVKGSPEAKAKGPRLRMPTFGLSLLEPRPSGPEAVAESKLKLPTLKMPSFGIGVAGPEVKAPTGPEVKLPKVPEVKLPKVPEAAIPDVQLPEVQLPKMSDMKLPKIPEMVVPDVRLPEVQLPKVPEMKVPEMKLPKWPEMAVPDVHLPDVQLPKVPEMKLPKVPEMAVPDVHLPDVQLPKVPEMKLPEMKLPKVPEMAVPDVRLPEVQLPKVSEVKLPKMPEMAVPDVHLPELQLPKMSEVKLPKMPEMAVPDVRLPEVQLPKVSEMKLPKMPEMTMPDIRLPEVQLPKVPDIKLPEMKLPEIKLPKVPDMAVPDVPLPELQLPKVSDIRLPEMQVSQVPEVQLPKMPEMKLSKVPEVQRKSAGAEQAKGTEFSFKLPKMTMPKLGKVGKPGEASIEVPDKLMTLPCLQPEVGTEASHVGVPSLSLPSVELDLPGALGLEGQVQEAVPGKVEKPEGPRVAVGVGEVGFRVPSVEIVTPQLPTVEVEKEQLEMVEMKVKPSSKFSLPKFGLSGPKAVKGEVEGPGRATKLKVSKFTISLPKARAGTEAEAKGAGEAGLLPALDLSIPQLSLDAQLPSGKVEVADSKPKSSRFALPKFGVKGRDSEADVLVAGEAELEGKGWGWDGKVKMPKLKMPSFGLSRGKEAETQDGRVSPGEKLEAIAGQLKIPAVELVTPGAQETEKVTSGVKPSGLQVSTTGQVVAEGQESVQRVSTLGISLPQVELASFGEAGPEIVAPSAEGTAGSRVQVPQVMLELPGTQVAGGDLLVGEGIFKMPTVTVPQLELDVGLGHEAQAGEAAKSEGGIKLKLPTLGTGSRGEGVEPQGPEAQRTFHLSLPDVELTSPVSSHAEYQVVEGDGDGGHKLKVRLPLFGLAKAKEGIEVGEKVKSPKLRLPRVGFSQSESVSGEGSPSPEEEEEGSGEGASSRRGRVRVRLPRVGLASPSKVSKGQEGDATSKSPVGEKSPKFRFPRVSLSPKARSGSRDREEGGFRVRLPSVGFSETAVPGSTRIEGTQAAAI
InterPro domains: - IPR052082: Peripheral myelin sheath structural protein (family) [11-102]
- IPR036034: PDZ superfamily (homologous_superfamily) [16-101]
- IPR001478: PDZ domain (domain) [16-100]
Interaction partners: - Dystrophin-related protein 2
- Ezrin
- Periplakin
- Myelin protein P0
- E3 SUMO-protein ligase EGR2
- Utrophin
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0065007 (biological regulation), GO:0050789 (regulation of biological process), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0048519 (negative regulation of biological process), GO:0032501 (multicellular organismal process), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0009653 (anatomical structure morphogenesis), GO:0050794 (regulation of cellular process), GO:0071840 (cellular component organization or biogenesis), GO:0048523 (negative regulation of cellular process), GO:0003008 (system process), GO:0021675 (nerve development), GO:0009887 (animal organ morphogenesis), GO:0048598 (embryonic morphogenesis), GO:0051129 (negative regulation of cellular component organization), GO:0009888 (tissue development), GO:0007162 (negative regulation of cell adhesion), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0009790 (embryo development), GO:0016043 (cellular component organization), GO:0050877 (nervous system process), GO:0048839 (inner ear development), GO:0051128 (regulation of cellular component organization), GO:0044087 (regulation of cellular component biogenesis), GO:1902903 (regulation of supramolecular fiber organization), GO:0010639 (negative regulation of organelle organization), GO:0048568 (embryonic organ development), GO:0030030 (cell projection organization), GO:0042472 (inner ear morphogenesis), GO:0031344 (regulation of cell projection organization), GO:0032231 (regulation of actin filament bundle assembly), GO:0031346 (positive regulation of cell projection organization), GO:0048562 (embryonic organ morphogenesis), GO:0072359 (circulatory system development), GO:0007423 (sensory organ development), GO:0090596 (sensory organ morphogenesis), GO:0033043 (regulation of organelle organization), GO:0060113 (inner ear receptor cell differentiation), GO:0090103 (cochlea morphogenesis), GO:0031345 (negative regulation of cell projection organization), GO:0060429 (epithelium development), GO:0034330 (cell junction organization), GO:0007600 (sensory perception), GO:0007507 (heart development), GO:0042471 (ear morphogenesis), GO:0007193 (adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway), GO:0051493 (regulation of cytoskeleton organization), GO:0051494 (negative regulation of cytoskeleton organization), GO:0120035 (regulation of plasma membrane bounded cell projection organization), GO:0031175 (neuron projection development), GO:0010977 (negative regulation of neuron projection development), GO:0048699 (generation of neurons), GO:0050808 (synapse organization), GO:0043583 (ear development), GO:0120036 (plasma membrane bounded cell projection organization), GO:0050954 (sensory perception of mechanical stimulus), GO:0045216 (cell-cell junction organization), GO:0007605 (sensory perception of sound), GO:0060122 (inner ear receptor cell stereocilium organization)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0043209 (myelin sheath)