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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

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

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q01453

Protein family/group databases

Transport Classification Database

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TCDBi
1.H.1.2.2 the claudin tight junction (claudin1) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Peripheral myelin protein 22
Short name:
PMP-22
Alternative name(s):
Growth arrest-specific protein 3
Short name:
GAS-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMP22
Synonyms:GAS3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000109099.13

Human Gene Nomenclature Database

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HGNCi
HGNC:9118 PMP22

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601097 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q01453

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1CytoplasmicSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
5376

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PMP22

MalaCards human disease database

More...
MalaCardsi
PMP22
MIMi118220 phenotype
118300 phenotype
139393 phenotype
145900 phenotype
162500 phenotype

Open Targets

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OpenTargetsi
ENSG00000109099

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98916 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33444

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1293298

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

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DMDMi
266803

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001646501 – 160Peripheral myelin protein 22Add BLAST160

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q01453

PRoteomics IDEntifications database

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PRIDEi
Q01453

ProteomicsDB human proteome resource

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ProteomicsDBi
57955

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q01453

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q01453

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000109099 Expressed in 239 organ(s), highest expression level in trigeminal ganglion

CleanEx database of gene expression profiles

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CleanExi
HS_PMP22

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q01453 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q01453 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111389, 11 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q01453

Protein interaction database and analysis system

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IntActi
Q01453, 55 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000308937

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q01453

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IWVJ Eukaryota
ENOG4111SX3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154047

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000059542

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001690

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q01453

KEGG Orthology (KO)

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KOi
K19289

Identification of Orthologs from Complete Genome Data

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OMAi
RFYITGV

Database for complete collections of gene phylogenies

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PhylomeDBi
Q01453

TreeFam database of animal gene trees

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TreeFami
TF330414

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003936 PMP22
IPR004031 PMP22/EMP/MP20/Claudin
IPR004032 PMP22_EMP_MP20

The PANTHER Classification System

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PANTHERi
PTHR10671:SF7 PTHR10671:SF7, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00822 PMP22_Claudin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01453 EPMEMFAMILY
PR01458 PMYELIN22

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01221 PMP22_1, 1 hit
PS01222 PMP22_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7ECF7F91BED0CF9D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KQW0J3KQW0_HUMAN
Peripheral myelin protein 22
PMP22
125Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5L5A0A2R8Y5L5_HUMAN
Peripheral myelin protein 22
PMP22
129Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KT36J3KT36_HUMAN
Peripheral myelin protein 22
PMP22
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QS08J3QS08_HUMAN
Peripheral myelin protein 22
PMP22
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:rs755551524EnsemblClinVar.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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS11168.1

Protein sequence database of the Protein Information Resource

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PIRi
JN0503

NCBI Reference Sequences

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RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.372031
Hs.658306

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000312280; ENSP00000308937; ENSG00000109099
ENST00000395938; ENSP00000379269; ENSG00000109099
ENST00000612492; ENSP00000484631; ENSG00000109099

Database of genes from NCBI RefSeq genomes

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GeneIDi
5376

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5376

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

The DNASU plasmid repository

More...
DNASUi
5376
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5376
DisGeNETi5376
EuPathDBiHostDB:ENSG00000109099.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PMP22
GeneReviewsiPMP22

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0039508
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IWVJ Eukaryota
ENOG4111SX3 LUCA
GeneTreeiENSGT00940000154047
HOGENOMiHOG000059542
HOVERGENiHBG001690
InParanoidiQ01453
KOiK19289
OMAiRFYITGV
PhylomeDBiQ01453
TreeFamiTF330414

Enzyme and pathway databases

SIGNORiQ01453

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PMP22 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Peripheral_myelin_protein_22

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5376

Protein Ontology

More...
PROi
PR:Q01453

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPMP22_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01453
Secondary accession number(s): Q8WV01
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: December 5, 2018
This is version 193 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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