Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P16646

- PMP22_MOUSE

UniProt

P16646 - PMP22_MOUSE

Protein

Peripheral myelin protein 22

Gene

Pmp22

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. 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

    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

    GO - Cellular componenti

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

    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

    ArrayExpressiP16646.
    BgeeiP16646.
    CleanExiMM_PMP22.
    GenevestigatoriP16646.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 11CytoplasmicSequence Analysis
    Topological domaini32 – 6433ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 954CytoplasmicSequence Analysis
    Topological domaini120 – 13314ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini157 – 1604CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2 – 3130HelicalBy similarityAdd
    BLAST
    Transmembranei65 – 9127HelicalBy similarityAdd
    BLAST
    Transmembranei96 – 11924HelicalBy similarityAdd
    BLAST
    Transmembranei134 – 15623HelicalBy similarityAdd
    BLAST

    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

    MLLLLLGILF LHIAVLVLLF VSTIVSQWLV GNGHTTDLWQ NCTTSALGAV    50
    QHCYSSSVSE WLQSVQATMI LSVIFSVLAL FLFFCQLFTL TKGGRFYITG 100
    FFQILAGLCV MSAAAIYTVR HSEWHVNTDY SYGFAYILAW VAFPLALLSG 150
    IIYVILRKRE L 161
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M32240 mRNA. Translation: AAA37661.1.
    Z38110 mRNA. Translation: CAA86226.1.
    BC010765 mRNA. Translation: AAH10765.1.
    PIRiA36324.
    S21721.
    RefSeqiNP_032911.1. NM_008885.2.
    XP_006532551.1. XM_006532488.1.
    XP_006532552.1. XM_006532489.1.
    XP_006532553.1. XM_006532490.1.
    XP_006532554.1. XM_006532491.1.
    XP_006532555.1. XM_006532492.1.
    UniGeneiMm.1237.

    Genome annotation databases

    GeneIDi18858.
    KEGGimmu:18858.
    UCSCiuc007jkm.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_008885.2.
    XP_006532551.1. XM_006532488.1.
    XP_006532552.1. XM_006532489.1.
    XP_006532553.1. XM_006532490.1.
    XP_006532554.1. XM_006532491.1.
    XP_006532555.1. XM_006532492.1.
    UniGenei Mm.1237.

    3D structure databases

    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

    ArrayExpressi P16646.
    Bgeei P16646.
    CleanExi MM_PMP22.
    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

    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: October 1, 2014
    This is version 121 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