Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Peripheral myelin protein 22

Gene

PMP22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ01453

Protein family/group databases

TCDBi1.H.1.2.2 the claudin tight junction (claudin1) family

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:GAS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000109099.13
HGNCiHGNC:9118 PMP22
MIMi601097 gene
neXtProtiNX_Q01453

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1CytoplasmicSequence analysis1
Transmembranei2 – 31HelicalBy similarityAdd BLAST30
Topological domaini32 – 64ExtracellularSequence analysisAdd BLAST33
Transmembranei65 – 91HelicalBy similarityAdd BLAST27
Topological domaini92 – 95CytoplasmicSequence analysis4
Transmembranei96 – 119HelicalBy similarityAdd BLAST24
Topological domaini120 – 133ExtracellularSequence analysisAdd BLAST14
Transmembranei134 – 156HelicalBy similarityAdd BLAST23
Topological domaini157 – 160CytoplasmicSequence analysis4

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 1A (CMT1A)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
See also OMIM:118220
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02996225 – 26Missing in CMT1A. 1 Publication2
Natural variantiVAR_00966037D → V in CMT1A; with focally folded myelin sheaths. 1 PublicationCorresponds to variant dbSNP:rs104894627EnsemblClinVar.1
Natural variantiVAR_02996465V → F in CMT1A. 1 Publication1
Natural variantiVAR_00636779S → C in CMT1A. 2 PublicationsCorresponds to variant dbSNP:rs104894618EnsemblClinVar.1
Natural variantiVAR_00966293G → R in CMT1A. 1 PublicationCorresponds to variant dbSNP:rs778693173Ensembl.1
Natural variantiVAR_006374107G → V in CMT1A. 1 Publication1
Natural variantiVAR_006375118T → M in CMT1A. 5 PublicationsCorresponds to variant dbSNP:rs104894619EnsemblClinVar.1
Natural variantiVAR_006377147L → R in CMT1A. 2 Publications1
Dejerine-Sottas syndrome (DSS)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
See also OMIM:145900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00635912H → Q in DSS. 1 PublicationCorresponds to variant dbSNP:rs104894622EnsemblClinVar.1
Natural variantiVAR_00636119L → P in DSS. 1
Natural variantiVAR_00636269M → K in DSS. 2 PublicationsCorresponds to variant dbSNP:rs104894620EnsemblClinVar.1
Natural variantiVAR_02996671L → P in DSS. 1 Publication1
Natural variantiVAR_00636472S → P in DSS. 1
Natural variantiVAR_00636572S → W in DSS. 1 Publication1
Natural variantiVAR_00636676S → I in DSS. 1 Publication1
Natural variantiVAR_00636879S → P in DSS. 1 Publication1
Natural variantiVAR_00636980L → P in DSS. 1 Publication1
Natural variantiVAR_02996780L → R in DSS. 1 Publication1
Natural variantiVAR_00637084Missing in DSS. 1 Publication1
Natural variantiVAR_006371100G → E in DSS. 1 Publication1
Natural variantiVAR_006372100G → R in DSS. 1 Publication1
Natural variantiVAR_029968109C → R in DSS. 1 Publication1
Natural variantiVAR_029970149S → R in DSS. 1 PublicationCorresponds to variant dbSNP:rs775019409EnsemblClinVar.1
Natural variantiVAR_006378150G → C in DSS. 1 PublicationCorresponds to variant dbSNP:rs104894624EnsemblClinVar.1
Natural variantiVAR_006379150G → D in DSS. 1 PublicationCorresponds to variant dbSNP:rs879253954EnsemblClinVar.1
Natural variantiVAR_009664157R → W in DSS. 1 PublicationCorresponds to variant dbSNP:rs28936682EnsemblClinVar.1
Hereditary neuropathy with liability to pressure palsies (HNPP)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.
See also OMIM:162500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00965930V → M in HNPP. 1 PublicationCorresponds to variant dbSNP:rs377335295Ensembl.1
Natural variantiVAR_02996567A → T in HNPP. 1 PublicationCorresponds to variant dbSNP:rs104894623EnsemblClinVar.1
Charcot-Marie-Tooth disease 1E (CMT1E)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
See also OMIM:118300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02996123T → R in CMT1E. 1 Publication1
Natural variantiVAR_02996328W → R in CMT1E. 1 PublicationCorresponds to variant dbSNP:rs104894626EnsemblClinVar.1
Natural variantiVAR_00966167A → P in CMT1E. 1 PublicationCorresponds to variant dbSNP:rs104894623EnsemblClinVar.1
Natural variantiVAR_029969115 – 118Missing in CMT1E. 1 Publication4
Inflammatory demyelinating polyneuropathy (IDP)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionPutative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome.
See also OMIM:139393

Keywords - Diseasei

Charcot-Marie-Tooth disease, Deafness, Dejerine-Sottas syndrome, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi5376
GeneReviewsiPMP22
MalaCardsiPMP22
MIMi118220 phenotype
118300 phenotype
139393 phenotype
145900 phenotype
162500 phenotype
OpenTargetsiENSG00000109099
Orphaneti98916 Acute inflammatory demyelinating polyradiculoneuropathy
101081 Charcot-Marie-Tooth disease type 1A
90658 Charcot-Marie-Tooth disease type 1E
64748 Dejerine-Sottas syndrome
640 Hereditary neuropathy with liability to pressure palsies
3115 Roussy-Levy syndrome
PharmGKBiPA33444

Chemistry databases

ChEMBLiCHEMBL1293298

Polymorphism and mutation databases

DMDMi266803

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001646501 – 160Peripheral myelin protein 22Add BLAST160

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ01453
PRIDEiQ01453
ProteomicsDBi57955

PTM databases

iPTMnetiQ01453
PhosphoSitePlusiQ01453

Expressioni

Gene expression databases

BgeeiENSG00000109099 Expressed in 239 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_PMP22
ExpressionAtlasiQ01453 baseline and differential
GenevisibleiQ01453 HS

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi111389, 11 interactors
ELMiQ01453
IntActiQ01453, 55 interactors
STRINGi9606.ENSP00000308937

Structurei

3D structure databases

ProteinModelPortaliQ01453
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWVJ Eukaryota
ENOG4111SX3 LUCA
GeneTreeiENSGT00510000046328
HOGENOMiHOG000059542
HOVERGENiHBG001690
InParanoidiQ01453
KOiK19289
OMAiRFYITGV
PhylomeDBiQ01453
TreeFamiTF330414

Family and domain databases

InterProiView protein in InterPro
IPR003936 PMP22
IPR004031 PMP22/EMP/MP20/Claudin
IPR004032 PMP22_EMP_MP20
PANTHERiPTHR10671:SF7 PTHR10671:SF7, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01453 EPMEMFAMILY
PR01458 PMYELIN22
PROSITEiView protein in PROSITE
PS01221 PMP22_1, 1 hit
PS01222 PMP22_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.iShow all

Q01453-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLLLLSIIV LHVAVLVLLF VSTIVSQWIV GNGHATDLWQ NCSTSSSGNV
60 70 80 90 100
HHCFSSSPNE WLQSVQATMI LSIIFSILSL FLFFCQLFTL TKGGRFYITG
110 120 130 140 150
IFQILAGLCV MSAAAIYTVR HPEWHLNSDY SYGFAYILAW VAFPLALLSG
160
VIYVILRKRE
Length:160
Mass (Da):17,891
Last modified:April 1, 1993 - v1
Checksum:i7ECF7F91BED0CF9D
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MU75A8MU75_HUMAN
Peripheral myelin protein 22
PMP22
118Annotation score:
J3KQW0J3KQW0_HUMAN
Peripheral myelin protein 22
PMP22
125Annotation score:
A0A2R8Y5L5A0A2R8Y5L5_HUMAN
Peripheral myelin protein 22
PMP22
129Annotation score:
J3KT36J3KT36_HUMAN
Peripheral myelin protein 22
PMP22
92Annotation score:
J3QS08J3QS08_HUMAN
Peripheral myelin protein 22
PMP22
43Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00635912H → Q in DSS. 1 PublicationCorresponds to variant dbSNP:rs104894622EnsemblClinVar.1
Natural variantiVAR_00636016L → P in CMT1A and DSS. 2 PublicationsCorresponds to variant dbSNP:rs104894617EnsemblClinVar.1
Natural variantiVAR_00636119L → P in DSS. 1
Natural variantiVAR_02996022S → F in HNPP and CMT1A. 1 PublicationCorresponds to variant dbSNP:rs104894625EnsemblClinVar.1
Natural variantiVAR_02996123T → R in CMT1E. 1 Publication1
Natural variantiVAR_02996225 – 26Missing in CMT1A. 1 Publication2
Natural variantiVAR_02996328W → R in CMT1E. 1 PublicationCorresponds to variant dbSNP:rs104894626EnsemblClinVar.1
Natural variantiVAR_00965930V → M in HNPP. 1 PublicationCorresponds to variant dbSNP:rs377335295Ensembl.1
Natural variantiVAR_00966037D → V in CMT1A; with focally folded myelin sheaths. 1 PublicationCorresponds to variant dbSNP:rs104894627EnsemblClinVar.1
Natural variantiVAR_02996465V → F in CMT1A. 1 Publication1
Natural variantiVAR_00966167A → P in CMT1E. 1 PublicationCorresponds to variant dbSNP:rs104894623EnsemblClinVar.1
Natural variantiVAR_02996567A → T in HNPP. 1 PublicationCorresponds to variant dbSNP:rs104894623EnsemblClinVar.1
Natural variantiVAR_00636269M → K in DSS. 2 PublicationsCorresponds to variant dbSNP:rs104894620EnsemblClinVar.1
Natural variantiVAR_02996671L → P in DSS. 1 Publication1
Natural variantiVAR_00636372S → L in DSS and CMT1A. 8 PublicationsCorresponds to variant dbSNP:rs104894621EnsemblClinVar.1
Natural variantiVAR_00636472S → P in DSS. 1
Natural variantiVAR_00636572S → W in DSS. 1 Publication1
Natural variantiVAR_00636676S → I in DSS. 1 Publication1
Natural variantiVAR_00636779S → C in CMT1A. 2 PublicationsCorresponds to variant dbSNP:rs104894618EnsemblClinVar.1
Natural variantiVAR_00636879S → P in DSS. 1 Publication1
Natural variantiVAR_00636980L → P in DSS. 1 Publication1
Natural variantiVAR_02996780L → R in DSS. 1 Publication1
Natural variantiVAR_00637084Missing in DSS. 1 Publication1
Natural variantiVAR_00966293G → R in CMT1A. 1 PublicationCorresponds to variant dbSNP:rs778693173Ensembl.1
Natural variantiVAR_006371100G → E in DSS. 1 Publication1
Natural variantiVAR_006372100G → R in DSS. 1 Publication1
Natural variantiVAR_006373105L → R in CMT1A and DSS. 2 Publications1
Natural variantiVAR_006374107G → V in CMT1A. 1 Publication1
Natural variantiVAR_029968109C → R in DSS. 1 Publication1
Natural variantiVAR_029969115 – 118Missing in CMT1E. 1 Publication4
Natural variantiVAR_006375118T → M in CMT1A. 5 PublicationsCorresponds to variant dbSNP:rs104894619EnsemblClinVar.1
Natural variantiVAR_006376137I → V. Corresponds to variant dbSNP:rs755551524Ensembl.1
Natural variantiVAR_006377147L → R in CMT1A. 2 Publications1
Natural variantiVAR_029970149S → R in DSS. 1 PublicationCorresponds to variant dbSNP:rs775019409EnsemblClinVar.1
Natural variantiVAR_006378150G → C in DSS. 1 PublicationCorresponds to variant dbSNP:rs104894624EnsemblClinVar.1
Natural variantiVAR_006379150G → D in DSS. 1 PublicationCorresponds to variant dbSNP:rs879253954EnsemblClinVar.1
Natural variantiVAR_009663157R → G1 PublicationCorresponds to variant dbSNP:rs28936682EnsemblClinVar.1
Natural variantiVAR_009664157R → W in DSS. 1 PublicationCorresponds to variant dbSNP:rs28936682EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M94048 mRNA Translation: AAA36457.1
D11428 mRNA Translation: BAA01995.1
S61788 mRNA Translation: AAB26811.1
L03203 mRNA Translation: AAA58495.1
BC019040 mRNA Translation: AAH19040.2
X65968 mRNA Translation: CAA46781.1
CCDSiCCDS11168.1
PIRiJN0503
RefSeqiNP_000295.1, NM_000304.3
NP_001268384.1, NM_001281455.1
NP_001268385.1, NM_001281456.1
NP_696996.1, NM_153321.2
NP_696997.1, NM_153322.2
UniGeneiHs.372031
Hs.658306

Genome annotation databases

EnsembliENST00000312280; ENSP00000308937; ENSG00000109099
ENST00000395938; ENSP00000379269; ENSG00000109099
ENST00000612492; ENSP00000484631; ENSG00000109099
GeneIDi5376
KEGGihsa:5376

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M94048 mRNA Translation: AAA36457.1
D11428 mRNA Translation: BAA01995.1
S61788 mRNA Translation: AAB26811.1
L03203 mRNA Translation: AAA58495.1
BC019040 mRNA Translation: AAH19040.2
X65968 mRNA Translation: CAA46781.1
CCDSiCCDS11168.1
PIRiJN0503
RefSeqiNP_000295.1, NM_000304.3
NP_001268384.1, NM_001281455.1
NP_001268385.1, NM_001281456.1
NP_696996.1, NM_153321.2
NP_696997.1, NM_153322.2
UniGeneiHs.372031
Hs.658306

3D structure databases

ProteinModelPortaliQ01453
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111389, 11 interactors
ELMiQ01453
IntActiQ01453, 55 interactors
STRINGi9606.ENSP00000308937

Chemistry databases

ChEMBLiCHEMBL1293298

Protein family/group databases

TCDBi1.H.1.2.2 the claudin tight junction (claudin1) family

PTM databases

iPTMnetiQ01453
PhosphoSitePlusiQ01453

Polymorphism and mutation databases

DMDMi266803

Proteomic databases

PaxDbiQ01453
PRIDEiQ01453
ProteomicsDBi57955

Protocols and materials databases

DNASUi5376
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312280; ENSP00000308937; ENSG00000109099
ENST00000395938; ENSP00000379269; ENSG00000109099
ENST00000612492; ENSP00000484631; ENSG00000109099
GeneIDi5376
KEGGihsa:5376

Organism-specific databases

CTDi5376
DisGeNETi5376
EuPathDBiHostDB:ENSG00000109099.13
GeneCardsiPMP22
GeneReviewsiPMP22
H-InvDBiHIX0039508
HGNCiHGNC:9118 PMP22
MalaCardsiPMP22
MIMi118220 phenotype
118300 phenotype
139393 phenotype
145900 phenotype
162500 phenotype
601097 gene
neXtProtiNX_Q01453
OpenTargetsiENSG00000109099
Orphaneti98916 Acute inflammatory demyelinating polyradiculoneuropathy
101081 Charcot-Marie-Tooth disease type 1A
90658 Charcot-Marie-Tooth disease type 1E
64748 Dejerine-Sottas syndrome
640 Hereditary neuropathy with liability to pressure palsies
3115 Roussy-Levy syndrome
PharmGKBiPA33444
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWVJ Eukaryota
ENOG4111SX3 LUCA
GeneTreeiENSGT00510000046328
HOGENOMiHOG000059542
HOVERGENiHBG001690
InParanoidiQ01453
KOiK19289
OMAiRFYITGV
PhylomeDBiQ01453
TreeFamiTF330414

Enzyme and pathway databases

SIGNORiQ01453

Miscellaneous databases

ChiTaRSiPMP22 human
GeneWikiiPeripheral_myelin_protein_22
GenomeRNAii5376
PROiPR:Q01453
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109099 Expressed in 239 organ(s), highest expression level in trigeminal ganglion
CleanExiHS_PMP22
ExpressionAtlasiQ01453 baseline and differential
GenevisibleiQ01453 HS

Family and domain databases

InterProiView protein in InterPro
IPR003936 PMP22
IPR004031 PMP22/EMP/MP20/Claudin
IPR004032 PMP22_EMP_MP20
PANTHERiPTHR10671:SF7 PTHR10671:SF7, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01453 EPMEMFAMILY
PR01458 PMYELIN22
PROSITEiView protein in PROSITE
PS01221 PMP22_1, 1 hit
PS01222 PMP22_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPMP22_HUMAN
AccessioniPrimary (citable) accession number: Q01453
Secondary accession number(s): Q8WV01
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: September 12, 2018
This is version 190 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again