Version 5.4
| Mus musculus Protein: Pmp22 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Protein | IDBP-263977.6 | ||||||||
| 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 | ENSMUSP00000104341 | ||||||||
| 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 |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| 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 | |||||||||
| 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 | ||||||||