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P25189

- MYP0_HUMAN

UniProt

P25189 - MYP0_HUMAN

Protein

Myelin protein P0

Gene

MPZ

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 171 (01 Oct 2014)
      Sequence version 1 (01 May 1992)
      Previous versions | rss
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    Functioni

    Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.

    GO - Molecular functioni

    1. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. cell-cell junction maintenance Source: Ensembl
    2. cell death Source: UniProtKB-KW
    3. synaptic transmission Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myelin protein P0
    Alternative name(s):
    Myelin peripheral protein
    Short name:
    MPP
    Myelin protein zero
    Gene namesi
    Name:MPZ
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7225. MPZ.

    Subcellular locationi

    Isoform L-MPZ : Myelin membrane 1 Publication; Single-pass type I membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. myelin sheath Source: UniProtKB-SubCell
    3. plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A 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.38 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301I → M in CMT1B. 1 Publication
    VAR_004500
    Natural varianti32 – 321V → F in CMT1B; severe. 1 Publication
    VAR_004501
    Natural varianti34 – 341T → I in CMT1B. 1 Publication
    VAR_004502
    Natural varianti39 – 391H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 1 Publication
    VAR_054393
    Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
    VAR_004503
    Natural varianti50 – 501Missing in CMT1B. 1 Publication
    VAR_054394
    Natural varianti51 – 577Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.
    VAR_054395
    Natural varianti51 – 511S → F in CMT1B. 1 Publication
    VAR_029971
    Natural varianti54 – 541S → C in CMT1B; severe.
    VAR_004504
    Natural varianti54 – 541S → P in CMT1B. 1 Publication
    VAR_004505
    Natural varianti58 – 581V → F in CMT1B; moderate. 1 Publication
    VAR_004506
    Natural varianti62 – 621I → F in CMT1B. 2 Publications
    VAR_015972
    Natural varianti63 – 631S → F in CMT1B. 2 Publications
    VAR_004509
    Natural varianti63 – 631Missing in CMT1B. 3 Publications
    VAR_004507
    Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
    VAR_004510
    Natural varianti65 – 651T → A in CMT1B. 1 Publication
    VAR_031886
    Natural varianti65 – 651T → I in CMT1B. 1 Publication
    VAR_029974
    Natural varianti68 – 681Y → C in CMT1B; severe/mild. 4 Publications
    VAR_004511
    Natural varianti78 – 781S → L in CMT1B; severe. 8 Publications
    VAR_004512
    Natural varianti78 – 781S → W in CMT1B. 1 Publication
    VAR_031887
    Natural varianti81 – 811H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 Publications
    VAR_004513
    Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
    VAR_004514
    Natural varianti90 – 901D → E in CMT1B. 1 Publication
    VAR_004515
    Natural varianti93 – 931G → E in CMT1B. 2 Publications
    VAR_004516
    Natural varianti96 – 961K → E in CMT1B. 2 Publications
    VAR_004517
    Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
    VAR_004518
    Natural varianti98 – 981R → H in CMT1B. 6 Publications
    VAR_004519
    Natural varianti98 – 981R → P in CMT1B.
    VAR_004520
    Natural varianti98 – 981R → S in CMT1B. 1 Publication
    VAR_004521
    Natural varianti99 – 991I → T in CMT1B.
    VAR_004522
    Natural varianti101 – 1011W → C in CMT1B. 1 Publication
    VAR_004523
    Natural varianti103 – 1031G → E in CMT1B. 1 Publication
    VAR_015976
    Natural varianti109 – 1091D → N in CMT1B. 1 Publication
    VAR_031889
    Natural varianti112 – 1121I → T in CMT1B; severe. 1 Publication
    VAR_004524
    Natural varianti122 – 1221N → S in CMT1B; loss of glycosylation site. 1 Publication
    VAR_004528
    Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
    VAR_015977
    Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
    VAR_004529
    Natural varianti128 – 1281D → E in CMT1B.
    VAR_004532
    Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
    VAR_004534
    Natural varianti132 – 1321P → L in CMT1B; moderate. 1 Publication
    VAR_004535
    Natural varianti134 – 1341D → E in CMT1B. 2 Publications
    VAR_004536
    Natural varianti134 – 1341D → G in CMT1B. 1 Publication
    VAR_029979
    Natural varianti134 – 1341D → N in CMT1B. 1 Publication
    VAR_004537
    Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
    VAR_004538
    Natural varianti135 – 1351I → T in CMT1B. 2 Publications
    VAR_004539
    Natural varianti137 – 1371G → S in CMT1B. 1 Publication
    VAR_004540
    Natural varianti138 – 1381K → N in CMT1B. 1 Publication
    VAR_029980
    Natural varianti139 – 1391T → N in CMT1B. 1 Publication
    VAR_029981
    Natural varianti140 – 1401S → T in CMT1B. 2 Publications
    VAR_029982
    Natural varianti143 – 1431T → M in CMT1B.
    VAR_004541
    Natural varianti145 – 1451Y → S in CMT1B. 1 Publication
    VAR_029983
    Natural varianti146 – 1461V → F in CMT1B. 1 Publication
    VAR_029984
    Natural varianti163 – 1631G → R in CMT1B. 2 Publications
    VAR_004542
    Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
    VAR_004543
    Natural varianti170 – 1701L → R in CMT1B. 1 Publication
    VAR_029985
    Natural varianti216 – 2161T → ER in CMT1B; referred to as 'T216ER'.
    VAR_029986
    Natural varianti224 – 2241D → Y in CMT1B; also in two asymptomatic individuals from the same family. 1 Publication
    VAR_054397
    Natural varianti227 – 2271R → S in CMT1B. 1 Publication
    VAR_054398
    Natural varianti236 – 2361Missing in CMT1B. 1 Publication
    VAR_029987
    Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
    VAR_004503
    Natural varianti60 – 601D → H in CMT2I. 1 Publication
    VAR_029972
    Natural varianti62 – 621I → M in CMT2I. 1 Publication
    VAR_029973
    Natural varianti89 – 891I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 Publication
    VAR_015974
    Natural varianti92 – 921V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 Publication
    VAR_015975
    Natural varianti118 – 1181D → N in CMT2I. 1 Publication
    VAR_021609
    Natural varianti162 – 1621I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 Publication
    VAR_015980
    Natural varianti236 – 2361K → E in CMT2I. 1 Publication
    VAR_021610
    Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751D → V in CMT2J. 3 Publications
    VAR_015973
    Natural varianti97 – 971E → V in CMT2J. 1 Publication
    VAR_029975
    Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
    VAR_004529
    Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A 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. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351D → Y in CMTDID. 2 Publications
    VAR_015971
    Dejerine-Sottas syndrome (DSS) [MIM:145900]: A 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.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421Missing in DSS. 1 Publication
    VAR_031884
    Natural varianti63 – 631S → C in DSS. 1 Publication
    VAR_004508
    Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
    VAR_004510
    Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
    VAR_004514
    Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
    VAR_004518
    Natural varianti110 – 1101G → D in DSS. 1 Publication
    VAR_029976
    Natural varianti114 – 1141I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 Publication
    VAR_004525
    Natural varianti116 – 1161N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 Publication
    VAR_004526
    Natural varianti118 – 1181D → DFY in DSS. 1 Publication
    VAR_004527
    Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
    VAR_015977
    Natural varianti124 – 1252Missing in DSS. 1 Publication
    VAR_004530
    Natural varianti127 – 1271C → Y in DSS.
    VAR_004531
    Natural varianti128 – 1281D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. 1 Publication
    VAR_004533
    Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
    VAR_004534
    Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
    VAR_004538
    Natural varianti136 – 1361V → E in DSS. 1 Publication
    VAR_015979
    Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
    VAR_004543
    Natural varianti167 – 1671G → R in DSS and CMT. 2 Publications
    VAR_004544
    Natural varianti221 – 2211A → T in DSS. 1 Publication
    VAR_031892
    Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241T → K in CHN. 1 Publication
    VAR_029978
    Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311N → K in ROULS. 1 Publication
    VAR_015978

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi103100. phenotype.
    118200. phenotype.
    145900. phenotype.
    180800. phenotype.
    605253. phenotype.
    607677. phenotype.
    607736. phenotype.
    607791. phenotype.
    Orphaneti99942. Autosomal dominant Charcot-Marie-Tooth disease type 2I.
    99943. Autosomal dominant Charcot-Marie-Tooth disease type 2J.
    100046. Autosomal dominant intermediate Charcot-Marie-Tooth disease type D.
    324585. Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain.
    101082. Charcot-Marie-Tooth disease type 1B.
    64748. Dejerine-Sottas syndrome.
    3115. Roussy-Levy syndrome.
    PharmGKBiPA30930.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Add
    BLAST
    Chaini30 – 248219Myelin protein P0PRO_0000019300Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi50 ↔ 1271 PublicationPROSITE-ProRule annotation
    Glycosylationi122 – 1221N-linked (GlcNAc...) (complex)By similarity
    Modified residuei210 – 2101Phosphoserine; by PKCBy similarity
    Modified residuei226 – 2261PhosphoserineBy similarity
    Modified residuei228 – 2281PhosphoserineBy similarity
    Modified residuei233 – 2331Phosphoserine; by PKCBy similarity
    Modified residuei243 – 2431Phosphoserine; by PKCBy similarity

    Post-translational modificationi

    N-glycosylated; contains sulfate-substituted glycan.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP25189.
    PaxDbiP25189.
    PRIDEiP25189.

    PTM databases

    PhosphoSiteiP25189.

    Expressioni

    Tissue specificityi

    Found only in peripheral nervous system Schwann cells.

    Gene expression databases

    ArrayExpressiP25189.
    BgeeiP25189.
    CleanExiHS_MPZ.
    GenevestigatoriP25189.

    Interactioni

    Subunit structurei

    Homodimer and homotetramer.1 Publication

    Protein-protein interaction databases

    BioGridi110499. 2 interactions.
    IntActiP25189. 3 interactions.
    MINTiMINT-1390651.
    STRINGi9606.ENSP00000353634.

    Structurei

    Secondary structure

    1
    248
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi36 – 416
    Beta strandi46 – 483
    Beta strandi63 – 708
    Beta strandi77 – 837
    Beta strandi86 – 894
    Turni94 – 985
    Beta strandi99 – 1013
    Helixi105 – 1073
    Beta strandi112 – 1143
    Helixi119 – 1213
    Beta strandi123 – 1319
    Beta strandi134 – 14815

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1N2Pmodel-A1-248[»]
    3OAIX-ray2.10A/B30-150[»]
    ProteinModelPortaliP25189.
    SMRiP25189. Positions 24-150.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 153124ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini180 – 24869CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei154 – 17926HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 143114Ig-like V-typeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the myelin P0 protein family.Curated

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47065.
    HOGENOMiHOG000232144.
    HOVERGENiHBG096384.
    InParanoidiP25189.
    KOiK06770.
    OrthoDBiEOG7G1V80.
    PhylomeDBiP25189.
    TreeFamiTF331728.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013106. Ig_V-set.
    IPR003596. Ig_V-set_subgr.
    IPR019566. Myelin-PO_C.
    IPR000920. Myelin_P0.
    IPR019738. Myelin_P0_CS.
    [Graphical view]
    PfamiPF10570. Myelin-PO_C. 1 hit.
    PF07686. V-set. 1 hit.
    [Graphical view]
    PRINTSiPR00213. MYELINP0.
    SMARTiSM00406. IGv. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS00568. MYELIN_P0. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P25189-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC    50
    SFWSSEWVSD DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ 100
    WVGDPRWKDG SIVIHNLDYS DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV 150
    PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR YCWLRRQAAL QRRLSAMEKG 200
    KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL GESRKDKK 248
    Length:248
    Mass (Da):27,555
    Last modified:May 1, 1992 - v1
    Checksum:iA93F4744DACB0D5E
    GO
    Isoform L-MPZ (identifier: P25189-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         248-248: K → KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSRTSLKNALKNMMGLNSDK

    Note: Based on a naturally occurring readthrough transcript. Highly antigenic.

    Show »
    Length:311
    Mass (Da):34,387
    Checksum:i04FA6B8C665820CB
    GO

    Sequence cautioni

    The sequence AAH06491.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAP35411.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAA03540.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAG36330.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAH70270.1 differs from that shown. Reason: Erroneous initiation.
    The sequence EAW52606.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301I → M in CMT1B. 1 Publication
    VAR_004500
    Natural varianti32 – 321V → F in CMT1B; severe. 1 Publication
    VAR_004501
    Natural varianti34 – 341T → I in CMT1B. 1 Publication
    VAR_004502
    Natural varianti35 – 351D → Y in CMTDID. 2 Publications
    VAR_015971
    Natural varianti39 – 391H → P in CMT1B; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane. 1 Publication
    VAR_054393
    Natural varianti42 – 421Missing in DSS. 1 Publication
    VAR_031884
    Natural varianti44 – 441S → F in CMT2I and CMT1B. 2 Publications
    VAR_004503
    Natural varianti50 – 501Missing in CMT1B. 1 Publication
    VAR_054394
    Natural varianti51 – 577Missing in CMT1B; affects targeting to the cell membrane; reduces intercellular adhesion.
    VAR_054395
    Natural varianti51 – 511S → F in CMT1B. 1 Publication
    VAR_029971
    Natural varianti54 – 541S → C in CMT1B; severe.
    VAR_004504
    Natural varianti54 – 541S → P in CMT1B. 1 Publication
    VAR_004505
    Natural varianti56 – 561E → K in CMT2. 1 Publication
    VAR_054396
    Natural varianti58 – 581V → F in CMT1B; moderate. 1 Publication
    VAR_004506
    Natural varianti60 – 601D → H in CMT2I. 1 Publication
    VAR_029972
    Natural varianti61 – 611D → G in CMT2; unclassified. 1 Publication
    VAR_031885
    Natural varianti62 – 621I → F in CMT1B. 2 Publications
    VAR_015972
    Natural varianti62 – 621I → M in CMT2I. 1 Publication
    VAR_029973
    Natural varianti63 – 631S → C in DSS. 1 Publication
    VAR_004508
    Natural varianti63 – 631S → F in CMT1B. 2 Publications
    VAR_004509
    Natural varianti63 – 631Missing in CMT1B. 3 Publications
    VAR_004507
    Natural varianti64 – 641Missing in CMT1B and DSS. 1 Publication
    VAR_004510
    Natural varianti65 – 651T → A in CMT1B. 1 Publication
    VAR_031886
    Natural varianti65 – 651T → I in CMT1B. 1 Publication
    VAR_029974
    Natural varianti68 – 681Y → C in CMT1B; severe/mild. 4 Publications
    VAR_004511
    Natural varianti75 – 751D → V in CMT2J. 3 Publications
    VAR_015973
    Natural varianti78 – 781S → L in CMT1B; severe. 8 Publications
    VAR_004512
    Natural varianti78 – 781S → W in CMT1B. 1 Publication
    VAR_031887
    Natural varianti81 – 811H → R in CMT1B; severe; reduces intercellular adhesion; does not affect targeting to the cell membrane. 2 Publications
    VAR_004513
    Natural varianti81 – 811H → Y in CMT; associated with F-113. 1 Publication
    VAR_031888
    Natural varianti82 – 821Y → C in CMT1B and DSS. 4 Publications
    VAR_004514
    Natural varianti89 – 891I → N in CMT2I; patient carrying also Met-92 and Met-162. 1 Publication
    VAR_015974
    Natural varianti90 – 901D → E in CMT1B. 1 Publication
    VAR_004515
    Natural varianti92 – 921V → M in CMT2I; patient carrying also Asn-89 and Met-162. 1 Publication
    VAR_015975
    Natural varianti93 – 931G → E in CMT1B. 2 Publications
    VAR_004516
    Natural varianti96 – 961K → E in CMT1B. 2 Publications
    VAR_004517
    Natural varianti97 – 971E → V in CMT2J. 1 Publication
    VAR_029975
    Natural varianti98 – 981R → C in CMT1B; severe and DSS. 5 Publications
    VAR_004518
    Natural varianti98 – 981R → H in CMT1B. 6 Publications
    VAR_004519
    Natural varianti98 – 981R → P in CMT1B.
    VAR_004520
    Natural varianti98 – 981R → S in CMT1B. 1 Publication
    VAR_004521
    Natural varianti99 – 991I → T in CMT1B.
    VAR_004522
    Natural varianti101 – 1011W → C in CMT1B. 1 Publication
    VAR_004523
    Natural varianti103 – 1031G → E in CMT1B. 1 Publication
    VAR_015976
    Natural varianti109 – 1091D → N in CMT1B. 1 Publication
    VAR_031889
    Natural varianti110 – 1101G → D in DSS. 1 Publication
    VAR_029976
    Natural varianti112 – 1121I → T in CMT1B; severe. 1 Publication
    VAR_004524
    Natural varianti113 – 1131V → F in CMT; unclassified; associated with Y-81. 1 Publication
    VAR_031890
    Natural varianti113 – 1131V → I in CMT2. 1 Publication
    VAR_029977
    Natural varianti114 – 1141I → T in DSS; associated on the same allele as His-116 and Asn-128 in one patient. 1 Publication
    VAR_004525
    Natural varianti116 – 1161N → H in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient. 1 Publication
    VAR_004526
    Natural varianti118 – 1181D → DFY in DSS. 1 Publication
    VAR_004527
    Natural varianti118 – 1181D → N in CMT2I. 1 Publication
    VAR_021609
    Natural varianti119 – 1191Y → C in CMT2; unclassified. 1 Publication
    VAR_031891
    Natural varianti122 – 1221N → S in CMT1B; loss of glycosylation site. 1 Publication
    VAR_004528
    Natural varianti123 – 1231G → C in DSS and CMT1B. 2 Publications
    VAR_015977
    Natural varianti124 – 1252Missing in DSS. 1 Publication
    VAR_004530
    Natural varianti124 – 1241T → K in CHN. 1 Publication
    VAR_029978
    Natural varianti124 – 1241T → M in CMT1B and CMT2J; CMTJ2 patients present Adie pupil; slightly reduces intercellular adhesion; does not affect targeting to the cell membrane; affects glycosylation. 10 Publications
    VAR_004529
    Natural varianti127 – 1271C → Y in DSS.
    VAR_004531
    Natural varianti128 – 1281D → E in CMT1B.
    VAR_004532
    Natural varianti128 – 1281D → N in DSS; associated on the same allele as Thr-114 and His-116 in one patient. 1 Publication
    VAR_004533
    Natural varianti130 – 1301K → R in CMT1B and DSS. 4 Publications
    VAR_004534
    Natural varianti131 – 1311N → K in ROULS. 1 Publication
    VAR_015978
    Natural varianti132 – 1321P → L in CMT1B; moderate. 1 Publication
    VAR_004535
    Natural varianti134 – 1341D → E in CMT1B. 2 Publications
    VAR_004536
    Natural varianti134 – 1341D → G in CMT1B. 1 Publication
    VAR_029979
    Natural varianti134 – 1341D → N in CMT1B. 1 Publication
    VAR_004537
    Natural varianti135 – 1351I → L in CMT1B and DSS. 1 Publication
    VAR_004538
    Natural varianti135 – 1351I → T in CMT1B. 2 Publications
    VAR_004539
    Natural varianti136 – 1361V → E in DSS. 1 Publication
    VAR_015979
    Natural varianti137 – 1371G → S in CMT1B. 1 Publication
    VAR_004540
    Natural varianti138 – 1381K → N in CMT1B. 1 Publication
    VAR_029980
    Natural varianti139 – 1391T → N in CMT1B. 1 Publication
    VAR_029981
    Natural varianti140 – 1401S → T in CMT1B. 2 Publications
    VAR_029982
    Natural varianti143 – 1431T → M in CMT1B.
    VAR_004541
    Natural varianti145 – 1451Y → S in CMT1B. 1 Publication
    VAR_029983
    Natural varianti146 – 1461V → F in CMT1B. 1 Publication
    VAR_029984
    Natural varianti162 – 1621I → M in CMT2I; patient carrying also Asn-89 and Met-92. 1 Publication
    VAR_015980
    Natural varianti163 – 1631G → R in CMT1B. 2 Publications
    VAR_004542
    Natural varianti167 – 1671G → A in CMT1B and DSS; severe. 1 Publication
    VAR_004543
    Natural varianti167 – 1671G → R in DSS and CMT. 2 Publications
    VAR_004544
    Natural varianti170 – 1701L → R in CMT1B. 1 Publication
    VAR_029985
    Natural varianti216 – 2161T → ER in CMT1B; referred to as 'T216ER'.
    VAR_029986
    Natural varianti221 – 2211A → T in DSS. 1 Publication
    VAR_031892
    Natural varianti224 – 2241D → Y in CMT1B; also in two asymptomatic individuals from the same family. 1 Publication
    VAR_054397
    Natural varianti227 – 2271R → S in CMT1B. 1 Publication
    VAR_054398
    Natural varianti236 – 2361K → E in CMT2I. 1 Publication
    VAR_021610
    Natural varianti236 – 2361Missing in CMT1B. 1 Publication
    VAR_029987
    Natural varianti244 – 2441R → L.
    VAR_004545

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei248 – 2481K → KRLAGRAGDRGLGVESAKGP KVMVIEMELRKDEQSPELRP AVKSPSRTSLKNALKNMMGL NSDK in isoform L-MPZ. CuratedVSP_045844

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D10537 mRNA. Translation: BAA01395.1.
    D14720 Genomic DNA. Translation: BAA03540.1. Different initiation.
    L24893, L24894 Genomic DNA. Translation: AAA20656.1.
    AK313555 mRNA. Translation: BAG36330.1. Different initiation.
    BT006765 mRNA. Translation: AAP35411.1. Different initiation.
    AL592295 Genomic DNA. Translation: CAH70270.1. Different initiation.
    CH471121 Genomic DNA. Translation: EAW52606.1. Different initiation.
    BC006491 mRNA. Translation: AAH06491.1. Different initiation.
    S66705 mRNA. Translation: AAB28708.1.
    U10018, U10017 Genomic DNA. Translation: AAA18981.1.
    CCDSiCCDS1229.2. [P25189-1]
    PIRiJH0252.
    RefSeqiNP_000521.2. NM_000530.6. [P25189-1]
    UniGeneiHs.591486.

    Genome annotation databases

    EnsembliENST00000463290; ENSP00000431538; ENSG00000158887. [P25189-1]
    ENST00000533357; ENSP00000432943; ENSG00000158887. [P25189-1]
    GeneIDi4359.
    KEGGihsa:4359.
    UCSCiuc001gaf.4. human. [P25189-1]

    Polymorphism databases

    DMDMi127721.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Inherited peripheral neuropathies mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D10537 mRNA. Translation: BAA01395.1 .
    D14720 Genomic DNA. Translation: BAA03540.1 . Different initiation.
    L24893 , L24894 Genomic DNA. Translation: AAA20656.1 .
    AK313555 mRNA. Translation: BAG36330.1 . Different initiation.
    BT006765 mRNA. Translation: AAP35411.1 . Different initiation.
    AL592295 Genomic DNA. Translation: CAH70270.1 . Different initiation.
    CH471121 Genomic DNA. Translation: EAW52606.1 . Different initiation.
    BC006491 mRNA. Translation: AAH06491.1 . Different initiation.
    S66705 mRNA. Translation: AAB28708.1 .
    U10018 , U10017 Genomic DNA. Translation: AAA18981.1 .
    CCDSi CCDS1229.2. [P25189-1 ]
    PIRi JH0252.
    RefSeqi NP_000521.2. NM_000530.6. [P25189-1 ]
    UniGenei Hs.591486.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1N2P model - A 1-248 [» ]
    3OAI X-ray 2.10 A/B 30-150 [» ]
    ProteinModelPortali P25189.
    SMRi P25189. Positions 24-150.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

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    BioGridi 110499. 2 interactions.
    IntActi P25189. 3 interactions.
    MINTi MINT-1390651.