PMP22_MOUSE
ID PMP22_MOUSE Reviewed; 161 AA.
AC P16646; Q91XF9;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1991, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Peripheral myelin protein 22;
DE Short=PMP-22;
DE AltName: Full=Growth arrest-specific protein 3;
DE Short=GAS-3;
GN Name=Pmp22; Synonyms=Gas-3, Gas3, Pmp-22;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=1692961; DOI=10.1128/mcb.10.6.2924-2930.1990;
RA Manfioletti G., Ruaro M.E., del Sal G., Philipson L., Schneider C.;
RT "A growth arrest-specific (gas) gene codes for a membrane protein.";
RL Mol. Cell. Biol. 10:2924-2930(1990).
RN [2]
RP SEQUENCE REVISION.
RA Manfioletti G.;
RL Submitted (AUG-1991) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT TR ASP-150, AND
RP DISEASE.
RX PubMed=1552943; DOI=10.1038/356241a0;
RA Suter U., Welcher A.A., Ozcelik T., Snipes G.J., Kosaras B., Francke U.,
RA Billings-Gagliardi S., Sidman R.L., Shooter E.M.;
RT "Trembler mouse carries a point mutation in a myelin gene.";
RL Nature 356:241-244(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Rautenstrauss B.;
RL Submitted (OCT-1994) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP DEVELOPMENTAL STAGE.
RX PubMed=30773261; DOI=10.1016/j.bbrc.2019.02.048;
RA Liu Y., Dakou E., Meng Y., Leyns L.;
RT "Loss of Emp2 compromises cardiogenic differentiation in mouse embryonic
RT stem cells.";
RL Biochem. Biophys. Res. Commun. 511:173-178(2019).
RN [7]
RP VARIANT TR-J PRO-16, AND DISEASE.
RX PubMed=1374899; DOI=10.1073/pnas.89.10.4382;
RA Suter U., Moskow J.J., Welcher A.A., Snipes G.J., Kosaras B., Sidman R.L.,
RA Shooter E.M.;
RT "A leucine-to-proline mutation in the putative first transmembrane domain
RT of the 22-kDa peripheral myelin protein in the trembler-J mouse.";
RL Proc. Natl. Acad. Sci. U.S.A. 89:4382-4386(1992).
CC -!- FUNCTION: Might be involved in growth regulation, and in myelinization
CC in the peripheral nervous system.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q01453};
CC Multi-pass membrane protein {ECO:0000250|UniProtKB:Q01453}.
CC -!- TISSUE SPECIFICITY: Schwann cells of the peripheral nervous system
CC (PubMed:1552943). Expressed at growth arrest of mammalian fibroblasts
CC (PubMed:1692961). {ECO:0000269|PubMed:1552943,
CC ECO:0000269|PubMed:1692961}.
CC -!- DEVELOPMENTAL STAGE: Expressed from day 3 of gastrulation, expression
CC levels are maintained until day 10. {ECO:0000269|PubMed:30773261}.
CC -!- DISEASE: Note=A defect in Pmp-22 is the cause of trembler (tr)
CC phenotype. Trembler mice show a Schwann cells defect characterized by
CC severe hypomyelination and continuing Schwann cells proliferation
CC throughout life. {ECO:0000269|PubMed:1374899,
CC ECO:0000269|PubMed:1552943}.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
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DR EMBL; M32240; AAA37661.1; -; mRNA.
DR EMBL; Z38110; CAA86226.1; -; mRNA.
DR EMBL; BC010765; AAH10765.1; -; mRNA.
DR PIR; A36324; A36324.
DR PIR; S21721; S21721.
DR RefSeq; NP_001289184.1; NM_001302255.1.
DR RefSeq; NP_001289186.1; NM_001302257.1.
DR RefSeq; NP_001289187.1; NM_001302258.1.
DR RefSeq; NP_001289188.1; NM_001302259.1.
DR RefSeq; NP_001289189.1; NM_001302260.1.
DR RefSeq; NP_032911.1; NM_008885.3.
DR AlphaFoldDB; P16646; -.
DR SMR; P16646; -.
DR STRING; 10090.ENSMUSP00000018361; -.
DR GlyGen; P16646; 1 site.
DR PhosphoSitePlus; P16646; -.
DR SwissPalm; P16646; -.
DR PaxDb; P16646; -.
DR PRIDE; P16646; -.
DR DNASU; 18858; -.
DR GeneID; 18858; -.
DR KEGG; mmu:18858; -.
DR UCSC; uc007jkm.2; mouse.
DR CTD; 5376; -.
DR MGI; MGI:97631; Pmp22.
DR eggNOG; ENOG502S0F5; Eukaryota.
DR InParanoid; P16646; -.
DR OrthoDB; 1513895at2759; -.
DR PhylomeDB; P16646; -.
DR BioGRID-ORCS; 18858; 6 hits in 77 CRISPR screens.
DR PRO; PR:P16646; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; P16646; protein.
DR GO; GO:0005923; C:bicellular tight junction; ISO:MGI.
DR GO; GO:0009986; C:cell surface; IDA:MGI.
DR GO; GO:0043218; C:compact myelin; IDA:MGI.
DR GO; GO:0016021; C:integral component of membrane; ISO:MGI.
DR GO; GO:0008305; C:integrin complex; IDA:MGI.
DR GO; GO:0043256; C:laminin complex; IDA:MGI.
DR GO; GO:0016020; C:membrane; IDA:MGI.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:MGI.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0003774; F:cytoskeletal motor activity; IMP:MGI.
DR GO; GO:0030036; P:actin cytoskeleton organization; IMP:MGI.
DR GO; GO:0008344; P:adult locomotory behavior; IMP:MGI.
DR GO; GO:0007628; P:adult walking behavior; IMP:MGI.
DR GO; GO:0070842; P:aggresome assembly; IMP:MGI.
DR GO; GO:0006914; P:autophagy; IMP:MGI.
DR GO; GO:0061564; P:axon development; IMP:MGI.
DR GO; GO:0071711; P:basement membrane organization; IMP:MGI.
DR GO; GO:0032060; P:bleb assembly; ISO:MGI.
DR GO; GO:0007155; P:cell adhesion; IMP:MGI.
DR GO; GO:0007049; P:cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0008219; P:cell death; ISO:MGI.
DR GO; GO:0030154; P:cell differentiation; ISO:MGI.
DR GO; GO:0044255; P:cellular lipid metabolic process; IMP:MGI.
DR GO; GO:0051641; P:cellular localization; IMP:MGI.
DR GO; GO:0034605; P:cellular response to heat; IMP:MGI.
DR GO; GO:0034620; P:cellular response to unfolded protein; IMP:MGI.
DR GO; GO:0008203; P:cholesterol metabolic process; IMP:MGI.
DR GO; GO:0010761; P:fibroblast migration; IMP:MGI.
DR GO; GO:0042063; P:gliogenesis; IMP:MGI.
DR GO; GO:0006955; P:immune response; IMP:MGI.
DR GO; GO:0030032; P:lamellipodium assembly; IMP:MGI.
DR GO; GO:0007618; P:mating; IMP:MGI.
DR GO; GO:0031579; P:membrane raft organization; IMP:MGI.
DR GO; GO:0061744; P:motor behavior; IMP:MGI.
DR GO; GO:0010259; P:multicellular organism aging; IMP:MGI.
DR GO; GO:0035264; P:multicellular organism growth; IMP:MGI.
DR GO; GO:0055001; P:muscle cell development; IMP:MGI.
DR GO; GO:0032288; P:myelin assembly; IMP:MGI.
DR GO; GO:0042552; P:myelination; IMP:MGI.
DR GO; GO:0022011; P:myelination in peripheral nervous system; IMP:MGI.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; ISO:MGI.
DR GO; GO:0010629; P:negative regulation of gene expression; IMP:MGI.
DR GO; GO:0010977; P:negative regulation of neuron projection development; ISO:MGI.
DR GO; GO:0098529; P:neuromuscular junction development, skeletal muscle fiber; IMP:MGI.
DR GO; GO:0050905; P:neuromuscular process; IMP:MGI.
DR GO; GO:0019228; P:neuronal action potential; IMP:MGI.
DR GO; GO:0019227; P:neuronal action potential propagation; IMP:MGI.
DR GO; GO:0045161; P:neuronal ion channel clustering; IMP:MGI.
DR GO; GO:0030913; P:paranodal junction assembly; IMP:MGI.
DR GO; GO:0007422; P:peripheral nervous system development; IMP:MGI.
DR GO; GO:0048936; P:peripheral nervous system neuron axonogenesis; IMP:MGI.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:MGI.
DR GO; GO:0010498; P:proteasomal protein catabolic process; IMP:MGI.
DR GO; GO:0043161; P:proteasome-mediated ubiquitin-dependent protein catabolic process; IMP:MGI.
DR GO; GO:2001233; P:regulation of apoptotic signaling pathway; IMP:MGI.
DR GO; GO:0010468; P:regulation of gene expression; IMP:MGI.
DR GO; GO:0034350; P:regulation of glial cell apoptotic process; IMP:MGI.
DR GO; GO:0050727; P:regulation of inflammatory response; IMP:MGI.
DR GO; GO:0071900; P:regulation of protein serine/threonine kinase activity; IMP:MGI.
DR GO; GO:0010624; P:regulation of Schwann cell proliferation; IMP:MGI.
DR GO; GO:0009617; P:response to bacterium; IEP:MGI.
DR GO; GO:0034976; P:response to endoplasmic reticulum stress; IMP:MGI.
DR GO; GO:0014044; P:Schwann cell development; IMP:MGI.
DR GO; GO:0014037; P:Schwann cell differentiation; IMP:MGI.
DR GO; GO:0036135; P:Schwann cell migration; IMP:MGI.
DR GO; GO:0051146; P:striated muscle cell differentiation; IMP:MGI.
DR GO; GO:0019226; P:transmission of nerve impulse; IMP:MGI.
DR GO; GO:0060005; P:vestibular reflex; IMP:MGI.
DR InterPro; IPR003936; PMP22.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR004032; PMP22_EMP_MP20.
DR PANTHER; PTHR10671:SF7; PTHR10671:SF7; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01453; EPMEMFAMILY.
DR PRINTS; PR01458; PMYELIN22.
DR PROSITE; PS01221; PMP22_1; 1.
DR PROSITE; PS01222; PMP22_2; 1.
PE 1: Evidence at protein level;
KW Cell cycle; Cell membrane; Disease variant; Glycoprotein; Growth arrest;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..161
FT /note="Peripheral myelin protein 22"
FT /id="PRO_0000164651"
FT TOPO_DOM 1
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2..31
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 32..64
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..91
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 92..95
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 96..119
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 120..133
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 134..156
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 157..160
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 16
FT /note="L -> P (in tr-J)"
FT /evidence="ECO:0000269|PubMed:1374899"
FT VARIANT 150
FT /note="G -> D (in tr)"
FT /evidence="ECO:0000269|PubMed:1552943"
FT CONFLICT 161
FT /note="Missing (in Ref. 5; AAA37661)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 161 AA; 18023 MW; F9A918E6E6817118 CRC64;
MLLLLLGILF LHIAVLVLLF VSTIVSQWLV GNGHTTDLWQ NCTTSALGAV QHCYSSSVSE
WLQSVQATMI LSVIFSVLAL FLFFCQLFTL TKGGRFYITG FFQILAGLCV MSAAAIYTVR
HSEWHVNTDY SYGFAYILAW VAFPLALLSG IIYVILRKRE L
