UniProtKB - P16646 (PMP22_MOUSE)
Protein
Peripheral myelin protein 22
Gene
Pmp22
Organism
Mus musculus (Mouse)
Status
Functioni
Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
GO - Molecular functioni
- motor activity Source: MGI
GO - Biological processi
- actin cytoskeleton organization Source: MGI
- adult locomotory behavior Source: MGI
- adult walking behavior Source: MGI
- aggresome assembly Source: MGI
- autophagy Source: MGI
- axon development Source: MGI
- basement membrane organization Source: MGI
- bleb assembly Source: MGI
- cell adhesion Source: MGI
- cell cycle arrest Source: UniProtKB-KW
- cell death Source: MGI
- cell differentiation Source: MGI
- cellular lipid metabolic process Source: MGI
- cellular localization Source: MGI
- cellular response to heat Source: MGI
- cellular response to unfolded protein Source: MGI
- cholesterol metabolic process Source: MGI
- fibroblast migration Source: MGI
- gliogenesis Source: MGI
- immune response Source: MGI
- lamellipodium assembly Source: MGI
- mating Source: MGI
- membrane raft organization Source: MGI
- motor behavior Source: MGI
- multicellular organism aging Source: MGI
- multicellular organism growth Source: MGI
- muscle fiber development Source: MGI
- myelin assembly Source: MGI
- myelination Source: MGI
- myelination in peripheral nervous system Source: MGI
- negative regulation of cell population proliferation Source: MGI
- negative regulation of gene expression Source: MGI
- negative regulation of neuron projection development Source: MGI
- neuromuscular junction development, skeletal muscle fiber Source: MGI
- neuromuscular process Source: MGI
- neuronal action potential Source: MGI
- neuronal action potential propagation Source: MGI
- neuronal ion channel clustering Source: MGI
- paranodal junction assembly Source: MGI
- peripheral nervous system development Source: MGI
- peripheral nervous system neuron axonogenesis Source: MGI
- positive regulation of gene expression Source: MGI
- proteasomal protein catabolic process Source: MGI
- proteasome-mediated ubiquitin-dependent protein catabolic process Source: MGI
- regulation of apoptotic signaling pathway Source: MGI
- regulation of gene expression Source: MGI
- regulation of glial cell apoptotic process Source: MGI
- regulation of inflammatory response Source: MGI
- regulation of protein serine/threonine kinase activity Source: MGI
- regulation of Schwann cell proliferation Source: MGI
- response to bacterium Source: MGI
- response to endoplasmic reticulum stress Source: MGI
- Schwann cell development Source: MGI
- Schwann cell differentiation Source: MGI
- Schwann cell migration Source: MGI
- striated muscle cell differentiation Source: MGI
- transmission of nerve impulse Source: MGI
- vestibular reflex Source: MGI
Keywordsi
Biological process | Cell cycle, Growth arrest |
Names & Taxonomyi
Protein namesi | Recommended name: Peripheral myelin protein 22Short name: PMP-22 Alternative name(s): Growth arrest-specific protein 3 Short name: GAS-3 |
Gene namesi | Name:Pmp22 Synonyms:Gas-3, Gas3, Pmp-22 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:97631, Pmp22 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Extracellular region or secreted
- laminin complex Source: MGI
Plasma Membrane
- integrin complex Source: MGI
- plasma membrane Source: MGI
Other locations
- bicellular tight junction Source: MGI
- cell surface Source: MGI
- compact myelin Source: MGI
- integral component of membrane Source: MGI
- membrane Source: MGI
- perinuclear region of cytoplasm Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 | CytoplasmicSequence analysis | 1 | |
Transmembranei | 2 – 31 | HelicalBy similarityAdd BLAST | 30 | |
Topological domaini | 32 – 64 | ExtracellularSequence analysisAdd BLAST | 33 | |
Transmembranei | 65 – 91 | HelicalBy similarityAdd BLAST | 27 | |
Topological domaini | 92 – 95 | CytoplasmicSequence analysis | 4 | |
Transmembranei | 96 – 119 | HelicalBy similarityAdd BLAST | 24 | |
Topological domaini | 120 – 133 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 134 – 156 | HelicalBy similarityAdd BLAST | 23 | |
Topological domaini | 157 – 160 | CytoplasmicSequence analysis | 4 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
A defect in Pmp-22 is the cause of trembler (tr) phenotype. Trembler mice show a Schwann cells defect characterized by severe hypomyelination and continuing Schwann cells proliferation throughout life.2 Publications
Keywords - Diseasei
Disease variantPTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000164651 | 1 – 161 | Peripheral myelin protein 22Add BLAST | 161 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 41 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | P16646 |
PRIDEi | P16646 |
PTM databases
GlyGeni | P16646, 1 site |
PhosphoSitePlusi | P16646 |
SwissPalmi | P16646 |
Expressioni
Tissue specificityi
Schwann cells of the peripheral nervous system.
Developmental stagei
Specifically expressed at growth arrest of mammalian cells.
Interactioni
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000018361 |
Miscellaneous databases
RNActi | P16646, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the PMP-22/EMP/MP20 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S0F5, Eukaryota |
InParanoidi | P16646 |
OrthoDBi | 1513895at2759 |
PhylomeDBi | P16646 |
Family and domain databases
InterProi | View protein in InterPro IPR003936, PMP22 IPR004031, PMP22/EMP/MP20/Claudin IPR004032, PMP22_EMP_MP20 |
PANTHERi | PTHR10671:SF7, PTHR10671:SF7, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01453, EPMEMFAMILY PR01458, PMYELIN22 |
PROSITEi | View protein in PROSITE PS01221, PMP22_1, 1 hit PS01222, PMP22_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P16646-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLLLLLGILF LHIAVLVLLF VSTIVSQWLV GNGHTTDLWQ NCTTSALGAV
60 70 80 90 100
QHCYSSSVSE WLQSVQATMI LSVIFSVLAL FLFFCQLFTL TKGGRFYITG
110 120 130 140 150
FFQILAGLCV MSAAAIYTVR HSEWHVNTDY SYGFAYILAW VAFPLALLSG
160
IIYVILRKRE L
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ5SXS3 | Q5SXS3_MOUSE | Peripheral myelin protein 22 | Pmp22 | 160 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 161 | Missing in AAA37661 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural varianti | 16 | L → P in tr-J. 1 Publication | 1 | |
Natural varianti | 150 | G → D in tr. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M32240 mRNA Translation: AAA37661.1 Z38110 mRNA Translation: CAA86226.1 BC010765 mRNA Translation: AAH10765.1 |
PIRi | A36324 S21721 |
RefSeqi | NP_001289184.1, NM_001302255.1 NP_001289186.1, NM_001302257.1 NP_001289187.1, NM_001302258.1 NP_001289188.1, NM_001302259.1 NP_001289189.1, NM_001302260.1 NP_032911.1, NM_008885.3 |
Genome annotation databases
GeneIDi | 18858 |
KEGGi | mmu:18858 |
UCSCi | uc007jkm.2, mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M32240 mRNA Translation: AAA37661.1 Z38110 mRNA Translation: CAA86226.1 BC010765 mRNA Translation: AAH10765.1 |
PIRi | A36324 S21721 |
RefSeqi | NP_001289184.1, NM_001302255.1 NP_001289186.1, NM_001302257.1 NP_001289187.1, NM_001302258.1 NP_001289188.1, NM_001302259.1 NP_001289189.1, NM_001302260.1 NP_032911.1, NM_008885.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000018361 |
PTM databases
GlyGeni | P16646, 1 site |
PhosphoSitePlusi | P16646 |
SwissPalmi | P16646 |
Proteomic databases
PaxDbi | P16646 |
PRIDEi | P16646 |
Genome annotation databases
GeneIDi | 18858 |
KEGGi | mmu:18858 |
UCSCi | uc007jkm.2, mouse |
Organism-specific databases
CTDi | 5376 |
MGIi | MGI:97631, Pmp22 |
Phylogenomic databases
eggNOGi | ENOG502S0F5, Eukaryota |
InParanoidi | P16646 |
OrthoDBi | 1513895at2759 |
PhylomeDBi | P16646 |
Miscellaneous databases
BioGRID-ORCSi | 18858, 2 hits in 22 CRISPR screens |
PROi | PR:P16646 |
RNActi | P16646, protein |
SOURCEi | Search... |
Family and domain databases
InterProi | View protein in InterPro IPR003936, PMP22 IPR004031, PMP22/EMP/MP20/Claudin IPR004032, PMP22_EMP_MP20 |
PANTHERi | PTHR10671:SF7, PTHR10671:SF7, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01453, EPMEMFAMILY PR01458, PMYELIN22 |
PROSITEi | View protein in PROSITE PS01221, PMP22_1, 1 hit PS01222, PMP22_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PMP22_MOUSE | |
Accessioni | P16646Primary (citable) accession number: P16646 Secondary accession number(s): Q91XF9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1990 |
Last sequence update: | November 1, 1991 | |
Last modified: | February 10, 2021 | |
This is version 158 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families