Version 5.4
Mus musculus Protein: Pmp22
Summary
InnateDB Protein IDBP-185609.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pmp22
Protein Name peripheral myelin protein 22
Synonyms 22kDa; Gas-3; HNPP; Tr; trembler;
Species Mus musculus
Ensembl Protein ENSMUSP00000018361
InnateDB Gene IDBG-185607 (Pmp22)
Protein Structure
UniProt Annotation
Function Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations Note=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.
Tissue Specificity Schwann cells of the peripheral nervous system.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007050 cell cycle arrest
GO:0008285 negative regulation of cell proliferation
GO:0010977 negative regulation of neuron projection development
GO:0030154 cell differentiation
GO:0032288 myelin assembly
GO:0042552 myelination
Cellular Component
GO:0005886 plasma membrane
GO:0005923 tight junction
GO:0016021 integral component of membrane
GO:0043218 compact myelin
Protein Structure and Domains
PDB ID MGI:97631
InterPro IPR003936 Peripheral myelin protein PMP22
IPR004031 PMP-22/EMP/MP20/Claudin superfamily
IPR004032 PMP-22/EMP/MP20
PFAM PF00822
PF13903
PRINTS PR01458
PR01453
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P16646
PhosphoSite PhosphoSite-
TrEMBL Q5SXS3
UniProt Splice Variant
Entrez Gene 18858
UniGene Mm.488764
RefSeq NP_032911
MGI ID
MGI Symbol Pmp22
OMIM
CCDS CCDS24837
HPRD
IMGT
EMBL AK076005 AK171745 AL592215 BC010765 CH466601 M32240 Z38110
GenPept AAA37661 AAH10765 BAC36113 BAE42647 CAA86226 EDL10381 EDL10383 EDL10384

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca