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P16646 (PMP22_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peripheral myelin protein 22

Short name=PMP-22
Alternative name(s):
Growth arrest-specific protein 3
Short name=GAS-3
Gene names
Name:Pmp22
Synonyms:Gas-3, Gas3, Pmp-22
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length161 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Schwann cells of the peripheral nervous system.

Developmental stage

Specifically expressed at growth arrest of mammalian cells.

Involvement in disease

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.

Sequence similarities

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 161161Peripheral myelin protein 22
PRO_0000164651

Regions

Topological domain11Cytoplasmic Potential
Transmembrane2 – 3130Helical; By similarity
Topological domain32 – 6433Extracellular Potential
Transmembrane65 – 9127Helical; By similarity
Topological domain92 – 954Cytoplasmic Potential
Transmembrane96 – 11924Helical; By similarity
Topological domain120 – 13314Extracellular Potential
Transmembrane134 – 15623Helical; By similarity
Topological domain157 – 1604Cytoplasmic Potential

Amino acid modifications

Glycosylation411N-linked (GlcNAc...) Potential

Natural variations

Natural variant161L → P in tr-J. Ref.6
Natural variant1501G → D in tr. Ref.3

Experimental info

Sequence conflict1611Missing in AAA37661. Ref.5

Sequences

Sequence LengthMass (Da)Tools
P16646 [UniParc].

Last modified November 1, 1991. Version 2.
Checksum: F9A918E6E6817118

FASTA16118,023
        10         20         30         40         50         60 
MLLLLLGILF LHIAVLVLLF VSTIVSQWLV GNGHTTDLWQ NCTTSALGAV QHCYSSSVSE 

        70         80         90        100        110        120 
WLQSVQATMI LSVIFSVLAL FLFFCQLFTL TKGGRFYITG FFQILAGLCV MSAAAIYTVR 

       130        140        150        160 
HSEWHVNTDY SYGFAYILAW VAFPLALLSG IIYVILRKRE L 

« Hide

References

« Hide 'large scale' references
[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]"Trembler mouse carries a point mutation in a myelin gene."
Suter U., Welcher A.A., Ozcelik T., Snipes G.J., Kosaras B., Francke U., Billings-Gagliardi S., Sidman R.L., Shooter E.M.
Nature 356:241-244(1992) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M32240 mRNA. Translation: AAA37661.1.
Z38110 mRNA. Translation: CAA86226.1.
BC010765 mRNA. Translation: AAH10765.1.
PIRA36324.
S21721.
RefSeqNP_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.
UniGeneMm.1237.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID18858.
KEGGmmu:18858.
UCSCuc007jkm.1. mouse.

Organism-specific databases

CTD5376.
MGIMGI:97631. Pmp22.

Phylogenomic databases

eggNOGNOG43599.
HOGENOMHOG000059542.
HOVERGENHBG001690.
InParanoidP16646.
PhylomeDBP16646.

Gene expression databases

ArrayExpressP16646.
BgeeP16646.
CleanExMM_PMP22.
GenevestigatorP16646.

Family and domain databases

InterProIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio295240.
PROP16646.
SOURCESearch...

Entry information

Entry namePMP22_MOUSE
AccessionPrimary (citable) accession number: P16646
Secondary accession number(s): Q91XF9
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot