Homo sapiens Protein: PMP22
Summary
InnateDB Protein IDBP-811261.1
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PMP22
Protein Name peripheral myelin protein 22
Synonyms CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110;
Species Homo sapiens
Ensembl Protein ENSP00000484631
InnateDB Gene IDBG-31486 (PMP22)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007268 synaptic transmission
GO:0007422 peripheral nervous system development
GO:0008219 cell death
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
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
PhosphoSite PhosphoSite-
TrEMBL Q6FH25
UniProt Splice Variant
Entrez Gene 5376
UniGene
RefSeq NP_696997
HUGO HGNC:9118
OMIM 601097
CCDS CCDS11168
HPRD
IMGT
EMBL AK290640 AK300690 BC019040 BC091499 CR541931 CR541953 D11428 L03203 M94048 S61788 X65968
GenPept AAA36457 AAA58495 AAB26811 AAH19040 AAH91499 BAA01995 BAF83329 BAG62373 CAA46781 CAG46729 CAG46751