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Protein

Peripheral myelin protein 22

Gene

PMP22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

  • bleb assembly Source: UniProtKB
  • cell death Source: UniProtKB
  • chemical synaptic transmission Source: ProtInc
  • myelination Source: Ensembl
  • negative regulation of cell proliferation Source: Ensembl
  • negative regulation of neuron projection development Source: Ensembl
  • peripheral nervous system development Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109099-MONOMER.

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

HGNCiHGNC:9118. PMP22.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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_00636016L → P in CMT1A and DSS. 2 PublicationsCorresponds to variant rs104894617dbSNPEnsembl.1
Natural variantiVAR_02996022S → F in HNPP and CMT1A. 1 PublicationCorresponds to variant rs104894625dbSNPEnsembl.1
Natural variantiVAR_02996225 – 26Missing in CMT1A. 1 Publication2
Natural variantiVAR_00966037D → V in CMT1A; with focally folded myelin sheaths. 1 PublicationCorresponds to variant rs104894627dbSNPEnsembl.1
Natural variantiVAR_02996465V → F in CMT1A. 1 Publication1
Natural variantiVAR_00636372S → L in DSS and CMT1A. 8 PublicationsCorresponds to variant rs104894621dbSNPEnsembl.1
Natural variantiVAR_00636779S → C in CMT1A. 2 PublicationsCorresponds to variant rs104894618dbSNPEnsembl.1
Natural variantiVAR_00966293G → R in CMT1A. 1 PublicationCorresponds to variant rs778693173dbSNPEnsembl.1
Natural variantiVAR_006373105L → R in CMT1A and DSS. 2 Publications1
Natural variantiVAR_006374107G → V in CMT1A. 1 Publication1
Natural variantiVAR_006375118T → M in CMT1A. 5 PublicationsCorresponds to variant rs104894619dbSNPEnsembl.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 rs104894622dbSNPEnsembl.1
Natural variantiVAR_00636016L → P in CMT1A and DSS. 2 PublicationsCorresponds to variant rs104894617dbSNPEnsembl.1
Natural variantiVAR_00636119L → P in DSS. 1
Natural variantiVAR_00636269M → K in DSS. 2 PublicationsCorresponds to variant rs104894620dbSNPEnsembl.1
Natural variantiVAR_02996671L → P in DSS. 1 Publication1
Natural variantiVAR_00636372S → L in DSS and CMT1A. 8 PublicationsCorresponds to variant rs104894621dbSNPEnsembl.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_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_006373105L → R in CMT1A and DSS. 2 Publications1
Natural variantiVAR_029968109C → R in DSS. 1 Publication1
Natural variantiVAR_029970149S → R in DSS. 1 Publication1
Natural variantiVAR_006378150G → C in DSS. 1 PublicationCorresponds to variant rs104894624dbSNPEnsembl.1
Natural variantiVAR_006379150G → D in DSS. 1 Publication1
Natural variantiVAR_009664157R → W in DSS. 1 PublicationCorresponds to variant rs28936682dbSNPEnsembl.1
Hereditary neuropathy with liability to pressure palsies (HNPP)2 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_02996022S → F in HNPP and CMT1A. 1 PublicationCorresponds to variant rs104894625dbSNPEnsembl.1
Natural variantiVAR_00965930V → M in HNPP. 1 PublicationCorresponds to variant rs377335295dbSNPEnsembl.1
Natural variantiVAR_02996567A → T in HNPP. 1 PublicationCorresponds to variant rs104894623dbSNPEnsembl.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 rs104894626dbSNPEnsembl.1
Natural variantiVAR_00966167A → P in CMT1E. 1 PublicationCorresponds to variant rs104894623dbSNPEnsembl.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.
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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ01453.
PRIDEiQ01453.

PTM databases

iPTMnetiQ01453.
PhosphoSitePlusiQ01453.

Expressioni

Gene expression databases

BgeeiENSG00000109099.
CleanExiHS_PMP22.
ExpressionAtlasiQ01453. baseline and differential.
GenevisibleiQ01453. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KLRC1P267153EBI-2845982,EBI-9018187
SMIM3Q9BZL35EBI-2845982,EBI-741850

Protein-protein interaction databases

BioGridi111389. 10 interactors.
IntActiQ01453. 5 interactors.
STRINGi9606.ENSP00000308937.

Structurei

3D structure databases

ProteinModelPortaliQ01453.
SMRiQ01453.
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.
OMAiAIFTVRH.
PhylomeDBiQ01453.
TreeFamiTF330414.

Family and domain databases

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF7. PTHR10671:SF7. 1 hit.
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.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00635912H → Q in DSS. 1 PublicationCorresponds to variant rs104894622dbSNPEnsembl.1
Natural variantiVAR_00636016L → P in CMT1A and DSS. 2 PublicationsCorresponds to variant rs104894617dbSNPEnsembl.1
Natural variantiVAR_00636119L → P in DSS. 1
Natural variantiVAR_02996022S → F in HNPP and CMT1A. 1 PublicationCorresponds to variant rs104894625dbSNPEnsembl.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 rs104894626dbSNPEnsembl.1
Natural variantiVAR_00965930V → M in HNPP. 1 PublicationCorresponds to variant rs377335295dbSNPEnsembl.1
Natural variantiVAR_00966037D → V in CMT1A; with focally folded myelin sheaths. 1 PublicationCorresponds to variant rs104894627dbSNPEnsembl.1
Natural variantiVAR_02996465V → F in CMT1A. 1 Publication1
Natural variantiVAR_00966167A → P in CMT1E. 1 PublicationCorresponds to variant rs104894623dbSNPEnsembl.1
Natural variantiVAR_02996567A → T in HNPP. 1 PublicationCorresponds to variant rs104894623dbSNPEnsembl.1
Natural variantiVAR_00636269M → K in DSS. 2 PublicationsCorresponds to variant rs104894620dbSNPEnsembl.1
Natural variantiVAR_02996671L → P in DSS. 1 Publication1
Natural variantiVAR_00636372S → L in DSS and CMT1A. 8 PublicationsCorresponds to variant rs104894621dbSNPEnsembl.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 rs104894618dbSNPEnsembl.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 rs778693173dbSNPEnsembl.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 rs104894619dbSNPEnsembl.1
Natural variantiVAR_006376137I → V.Corresponds to variant rs755551524dbSNPEnsembl.1
Natural variantiVAR_006377147L → R in CMT1A. 2 Publications1
Natural variantiVAR_029970149S → R in DSS. 1 Publication1
Natural variantiVAR_006378150G → C in DSS. 1 PublicationCorresponds to variant rs104894624dbSNPEnsembl.1
Natural variantiVAR_006379150G → D in DSS. 1 Publication1
Natural variantiVAR_009663157R → G.1 PublicationCorresponds to variant rs28936682dbSNPEnsembl.1
Natural variantiVAR_009664157R → W in DSS. 1 PublicationCorresponds to variant rs28936682dbSNPEnsembl.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

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.
SMRiQ01453.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111389. 10 interactors.
IntActiQ01453. 5 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.

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.
GeneCardsiPMP22.
GeneReviewsiPMP22.
H-InvDBHIX0039508.
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.
OMAiAIFTVRH.
PhylomeDBiQ01453.
TreeFamiTF330414.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000109099-MONOMER.

Miscellaneous databases

ChiTaRSiPMP22. human.
GeneWikiiPeripheral_myelin_protein_22.
GenomeRNAii5376.
PROiQ01453.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109099.
CleanExiHS_PMP22.
ExpressionAtlasiQ01453. baseline and differential.
GenevisibleiQ01453. HS.

Family and domain databases

InterProiIPR003936. PMP22.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PANTHERiPTHR10671:SF7. PTHR10671:SF7. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01458. PMYELIN22.
PROSITEiPS01221. PMP22_1. 1 hit.
PS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPMP22_HUMAN
AccessioniPrimary (citable) accession number: Q01453
Secondary accession number(s): Q8WV01
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: November 30, 2016
This is version 177 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.