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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
Complete GO annotation...

Keywords - Biological processi

Cell 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:97631. Pmp22.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 11CytoplasmicSequence analysis
Transmembranei2 – 3130HelicalBy similarityAdd
BLAST
Topological domaini32 – 6433ExtracellularSequence analysisAdd
BLAST
Transmembranei65 – 9127HelicalBy similarityAdd
BLAST
Topological domaini92 – 954CytoplasmicSequence analysis
Transmembranei96 – 11924HelicalBy similarityAdd
BLAST
Topological domaini120 – 13314ExtracellularSequence analysisAdd
BLAST
Transmembranei134 – 15623HelicalBy similarityAdd
BLAST
Topological domaini157 – 1604CytoplasmicSequence analysis

GO - Cellular componenti

Complete GO annotation...

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.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 161161Peripheral myelin protein 22PRO_0000164651Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi41 – 411N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP16646.

PTM databases

PhosphoSiteiP16646.
SwissPalmiP16646.

Expressioni

Tissue specificityi

Schwann cells of the peripheral nervous system.

Developmental stagei

Specifically expressed at growth arrest of mammalian cells.

Gene expression databases

BgeeiENSMUSG00000018217.
CleanExiMM_PMP22.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000018361.

Structurei

3D structure databases

ProteinModelPortaliP16646.
SMRiP16646. Positions 3-155.
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

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF7. PTHR10671:SF7. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti161 – 1611Missing in AAA37661 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → P in tr-J. 1 Publication
Natural varianti150 – 1501G → D in tr. 1 Publication

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.

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. Positions 3-155.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000018361.

PTM databases

PhosphoSiteiP16646.
SwissPalmiP16646.

Proteomic databases

PaxDbiP16646.

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

PROiP16646.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000018217.
CleanExiMM_PMP22.

Family and domain databases

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF7. PTHR10671:SF7. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPMP22_MOUSE
AccessioniPrimary (citable) accession number: P16646
Secondary accession number(s): Q91XF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: November 1, 1991
Last modified: September 7, 2016
This is version 135 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.