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Protein

Peripheral myelin protein 22

Gene

Pmp22

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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
  • cell differentiation Source: MGI
  • myelin assembly Source: MGI
  • myelination Source: MGI
  • negative regulation of cell proliferation Source: MGI
  • negative regulation of neuron projection development Source: MGI
  • response to bacterium 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

Sequence (1+)i

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
« 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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SXS3Q5SXS3_MOUSE
Peripheral myelin protein 22
Pmp22 mCG_14822
160Annotation score:

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

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
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

3D structure databases

ProteinModelPortaliP16646
SMRiP16646
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000018361

PTM databases

PhosphoSitePlusiP16646
SwissPalmiP16646

Proteomic databases

PaxDbiP16646
PRIDEiP16646

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi18858
KEGGimmu:18858
UCSCiuc007jkm.2 mouse

Organism-specific databases

CTDi5376
MGIiMGI:97631 Pmp22

Phylogenomic databases

eggNOGiENOG410IWVJ Eukaryota
ENOG4111SX3 LUCA
HOGENOMiHOG000059542
HOVERGENiHBG001690
InParanoidiP16646
KOiK19289
PhylomeDBiP16646

Miscellaneous databases

PROiPR:P16646
SOURCEiSearch...

Gene expression databases

CleanExiMM_PMP22

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
ProtoNetiSearch...

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 10, 2018
This is version 145 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. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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