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Protein

Peripheral myelin protein 22

Gene

Pmp22

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

GO - Biological processi

  • bleb assembly Source: MGI
  • cell cycle arrest Source: UniProtKB-KW
  • cell death Source: MGI
  • myelin assembly Source: MGI

Keywordsi

Biological processCell cycle, Growth arrest

Names & Taxonomyi

Protein namesi
Recommended name:
Peripheral myelin protein 22
Short 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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:97631. Pmp22.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1CytoplasmicSequence analysis1
Transmembranei2 – 31HelicalBy similarityAdd BLAST30
Topological domaini32 – 64ExtracellularSequence analysisAdd BLAST33
Transmembranei65 – 91HelicalBy similarityAdd BLAST27
Topological domaini92 – 95CytoplasmicSequence analysis4
Transmembranei96 – 119HelicalBy similarityAdd BLAST24
Topological domaini120 – 133ExtracellularSequence analysisAdd BLAST14
Transmembranei134 – 156HelicalBy similarityAdd BLAST23
Topological domaini157 – 160CytoplasmicSequence analysis4

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & 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 mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001646511 – 161Peripheral myelin protein 22Add BLAST161

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP16646.
PRIDEiP16646.

PTM databases

PhosphoSitePlusiP16646.
SwissPalmiP16646.

Expressioni

Tissue specificityi

Schwann cells of the peripheral nervous system.

Developmental stagei

Specifically expressed at growth arrest of mammalian cells.

Gene expression databases

CleanExiMM_PMP22.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000018361.

Structurei

3D structure databases

ProteinModelPortaliP16646.
SMRiP16646.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWVJ. Eukaryota.
ENOG4111SX3. LUCA.
HOGENOMiHOG000059542.
HOVERGENiHBG001690.
InParanoidiP16646.
KOiK19289.
PhylomeDBiP16646.

Family and domain databases

InterProiView protein in InterPro
IPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
PANTHERiPTHR10671:SF7. PTHR10671:SF7. 1 hit.
PfamiView protein in Pfam
PF00822. PMP22_Claudin. 1 hit.
PRINTSiPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEiView protein in PROSITE
PS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.

Sequencei

Sequence statusi: Complete.

P16646-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:161
Mass (Da):18,023
Last modified:November 1, 1991 - v2
Checksum:iF9A918E6E6817118
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti161Missing in AAA37661 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti16L → P in tr-J. 1 Publication1
Natural varianti150G → D in tr. 1 Publication1

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.
PIRiA36324.
S21721.
RefSeqiNP_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.
UniGeneiMm.1237.

Genome annotation databases

GeneIDi18858.
KEGGimmu:18858.
UCSCiuc007jkm.2. mouse.

Similar proteinsi

Entry informationi

Entry nameiPMP22_MOUSE
AccessioniPrimary (citable) accession number: P16646
Secondary accession number(s): Q91XF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 1, 1991
Last modified: October 25, 2017
This is version 141 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families