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P16646

- PMP22_MOUSE

UniProt

P16646 - PMP22_MOUSE

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Protein

Peripheral myelin protein 22

Gene

Pmp22

Organism
Mus musculus (Mouse)
Status
Reviewed - 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

  1. cell cycle arrest Source: UniProtKB-KW
  2. myelin assembly Source: MGI
  3. negative regulation of cell proliferation Source: Ensembl
  4. negative regulation of neuron projection development Source: Ensembl
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
ProteomesiUP000000589: Unplaced

Organism-specific databases

MGIiMGI:97631. Pmp22.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity

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

  1. compact myelin Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-KW
  4. tight junction Source: Ensembl
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

Expressioni

Tissue specificityi

Schwann cells of the peripheral nervous system.

Developmental stagei

Specifically expressed at growth arrest of mammalian cells.

Gene expression databases

BgeeiP16646.
CleanExiMM_PMP22.
ExpressionAtlasiP16646. baseline and differential.
GenevestigatoriP16646.

Structurei

3D structure databases

ProteinModelPortaliP16646.
SMRiP16646. Positions 3-159.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43599.
HOGENOMiHOG000059542.
HOVERGENiHBG001690.
InParanoidiP16646.
PhylomeDBiP16646.

Family and domain databases

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
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_032911.1. NM_008885.3.
UniGeneiMm.1237.

Genome annotation databases

GeneIDi18858.
KEGGimmu:18858.
UCSCiuc007jkm.1. 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 .
PIRi A36324.
S21721.
RefSeqi NP_032911.1. NM_008885.3.
UniGenei Mm.1237.

3D structure databases

ProteinModelPortali P16646.
SMRi P16646. Positions 3-159.
ModBasei Search...
MobiDBi Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 18858.
KEGGi mmu:18858.
UCSCi uc007jkm.1. mouse.

Organism-specific databases

CTDi 5376.
MGIi MGI:97631. Pmp22.

Phylogenomic databases

eggNOGi NOG43599.
HOGENOMi HOG000059542.
HOVERGENi HBG001690.
InParanoidi P16646.
PhylomeDBi P16646.

Miscellaneous databases

NextBioi 295240.
PROi P16646.
SOURCEi Search...

Gene expression databases

Bgeei P16646.
CleanExi MM_PMP22.
ExpressionAtlasi P16646. baseline and differential.
Genevestigatori P16646.

Family and domain databases

InterProi IPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view ]
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEi PS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A growth arrest-specific (gas) gene codes for a membrane protein."
    Manfioletti G., Ruaro M.E., del Sal G., Philipson L., Schneider C.
    Mol. Cell. Biol. 10:2924-2930(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Manfioletti G.
    Submitted (AUG-1991) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT TR ASP-150.
  4. Rautenstrauss B.
    Submitted (OCT-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  6. "A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse."
    Suter U., Moskow J.J., Welcher A.A., Snipes G.J., Kosaras B., Sidman R.L., Shooter E.M.
    Proc. Natl. Acad. Sci. U.S.A. 89:4382-4386(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TR-J PRO-16.

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: November 26, 2014
This is version 123 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

External Data

Dasty 3