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P16646

- PMP22_MOUSE

UniProt

P16646 - PMP22_MOUSE

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Protein
Peripheral myelin protein 22
Gene
Pmp22, Gas-3, Gas3, Pmp-22
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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 11Cytoplasmic Reviewed prediction
Transmembranei2 – 3130Helical; By similarity
Add
BLAST
Topological domaini32 – 6433Extracellular Reviewed prediction
Add
BLAST
Transmembranei65 – 9127Helical; By similarity
Add
BLAST
Topological domaini92 – 954Cytoplasmic Reviewed prediction
Transmembranei96 – 11924Helical; By similarity
Add
BLAST
Topological domaini120 – 13314Extracellular Reviewed prediction
Add
BLAST
Transmembranei134 – 15623Helical; By similarity
Add
BLAST
Topological domaini157 – 1604Cytoplasmic Reviewed prediction

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
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 22
PRO_0000164651Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

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

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti161 – 1611Missing in AAA37661. 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

« 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: April 16, 2014
This is version 120 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

Similar proteinsi