P16646 (PMP22_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	161 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Cell cycle Growth arrest
Cellular component	Cell membrane Membrane
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle arrest Inferred from electronic annotation. Source: UniProtKB-KW myelin assembly Inferred from mutant phenotype PubMed 16405874. Source: MGI negative regulation of cell proliferation Inferred from electronic annotation. Source: Compara negative regulation of neuron projection development Inferred from electronic annotation. Source: Compara
Cellular_component	compact myelin Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell tight junction Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 161	161	Peripheral myelin protein 22		PRO_0000164651
Regions
	Topological domain	1	1	Cytoplasmic Potential
	Transmembrane	2 – 31	30	Helical; By similarity
	Topological domain	32 – 64	33	Extracellular Potential
	Transmembrane	65 – 91	27	Helical; By similarity
	Topological domain	92 – 95	4	Cytoplasmic Potential
	Transmembrane	96 – 119	24	Helical; By similarity
	Topological domain	120 – 133	14	Extracellular Potential
	Transmembrane	134 – 156	23	Helical; By similarity
	Topological domain	157 – 160	4	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	41	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	16	1	L → P in tr-J. Ref.6
	Natural variant	150	1	G → D in tr. Ref.3
Experimental info
	Sequence conflict	161	1	Missing in AAA37661. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P16646 [UniParc]. Last modified November 1, 1991. Version 2. Checksum: F9A918E6E6817118	FASTA	161	18,023
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00137090.
PIR	A36324. S21721.
RefSeq	NP_032911.1. NM_008885.2.
UniGene	Mm.1237.
3D structure databases
ModBase	Search...
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	18858.
KEGG	mmu:18858.
UCSC	uc007jkm.1. mouse.
Organism-specific databases
CTD	5376.
MGI	MGI:97631. Pmp22.
Phylogenomic databases
eggNOG	NOG43599.
HOGENOM	HOG000059542.
HOVERGEN	HBG001690.
InParanoid	P16646.
OrthoDB	EOG4XPQH8.
Gene expression databases
ArrayExpress	P16646.
Bgee	P16646.
CleanEx	MM_PMP22.
Genevestigator	P16646.
GermOnline	ENSMUSG00000018217. Mus musculus.
Family and domain databases
InterPro	IPR003936. PMP22. IPR004031. PMP22/EMP/MP20/Claudin. IPR004032. PMP22_EMP_MP20. [Graphical view]
Pfam	PF00822. PMP22_Claudin. 1 hit. [Graphical view]
PRINTS	PR01453. EPMEMFAMILY. PR01458. PMYELIN22.
PROSITE	PS01221. PMP22_1. 1 hit. PS01222. PMP22_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	295240.
SOURCE	Search...

Entry information

Entry name

PMP22_MOUSE

Accession

Primary (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:	May 29, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program