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P60201

- MYPR_HUMAN

UniProt

P60201 - MYPR_HUMAN

Protein

Myelin proteolipid protein

Gene

PLP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin.

    GO - Molecular functioni

    1. structural constituent of myelin sheath Source: Ensembl
    2. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. axon ensheathment Source: ProtInc
    2. cell death Source: UniProtKB-KW
    3. cell maturation Source: Ensembl
    4. central nervous system myelination Source: Ensembl
    5. integrin-mediated signaling pathway Source: Ensembl
    6. long-chain fatty acid biosynthetic process Source: Ensembl
    7. positive regulation of gene expression Source: Ensembl
    8. substantia nigra development Source: UniProt
    9. synaptic transmission Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myelin proteolipid protein
    Short name:
    PLP
    Alternative name(s):
    Lipophilin
    Gene namesi
    Name:PLP1
    Synonyms:PLP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:9086. PLP1.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Myelin membrane By similarity
    Note: Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat.By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. myelin sheath Source: Ensembl
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080]: A X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay.30 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151P → L in HLD1. 1 Publication
    VAR_004546
    Natural varianti31 – 311L → P in HLD1. 1 Publication
    VAR_015014
    Natural varianti32 – 321F → L in HLD1. 1 Publication
    VAR_015015
    Natural varianti32 – 321F → V in HLD1. 1 Publication
    VAR_015016
    Natural varianti33 – 331C → Y in HLD1. 1 Publication
    VAR_046906
    Natural varianti35 – 351C → R in HLD1. 1 Publication
    VAR_046907
    Natural varianti35 – 351C → Y in HLD1. 1 Publication
    VAR_015017
    Natural varianti39 – 391A → T in HLD1. 2 Publications
    VAR_015018
    Natural varianti43 – 431T → I in HLD1. 1 Publication
    VAR_004547
    Natural varianti46 – 461L → P in HLD1/SPG2. 2 Publications
    VAR_015019
    Natural varianti46 – 461L → R in HLD1. 1 Publication
    VAR_015020
    Natural varianti50 – 501Y → C in HLD1. 1 Publication
    VAR_046908
    Natural varianti51 – 511F → S in HLD1. 1 Publication
    VAR_015021
    Natural varianti60 – 601Y → C in HLD1. 1 Publication
    VAR_015022
    Natural varianti74 – 741G → R in HLD1. 3 Publications
    VAR_004548
    Natural varianti76 – 761A → P in HLD1. 1 Publication
    VAR_046909
    Natural varianti116 – 1161T → K in HLD1. 1 Publication
    VAR_015023
    Natural varianti117 – 16549Missing in HLD1.
    VAR_004550Add
    BLAST
    Natural varianti148 – 1481H → Y in HLD1/SPG2. 2 Publications
    VAR_015025
    Natural varianti151 – 1511K → N in HLD1. 1 Publication
    VAR_015026
    Natural varianti156 – 1561T → I in HLD1. 2 Publications
    VAR_004552
    Natural varianti162 – 1621V → E in HLD1. 1 Publication
    VAR_046911
    Natural varianti163 – 1631W → R in HLD1. 1 Publication
    VAR_004553
    Natural varianti166 – 1661V → E in HLD1. 1 Publication
    VAR_004554
    Natural varianti166 – 1661V → G in HLD1/SPG2. 1 Publication
    VAR_015027
    Natural varianti169 – 1691C → R in HLD1. 1 Publication
    VAR_015028
    Natural varianti170 – 1701S → P in HLD1. 1 Publication
    VAR_046912
    Natural varianti172 – 1721V → A in HLD1. 1 Publication
    VAR_015030
    Natural varianti173 – 1731P → S in HLD1. 1 Publication
    VAR_046913
    Natural varianti175 – 1751Y → C in HLD1. 1 Publication
    VAR_015031
    Natural varianti181 – 1811W → C in HLD1. 2 Publications
    VAR_015032
    Natural varianti182 – 1821T → P in HLD1. 1 Publication
    VAR_004555
    Natural varianti183 – 1831T → N in HLD1. 1 Publication
    VAR_015033
    Natural varianti203 – 2031D → E in HLD1. 2 Publications
    VAR_015034
    Natural varianti203 – 2031D → G in HLD1. 1 Publication
    VAR_015035
    Natural varianti203 – 2031D → H in HLD1. 1 Publication
    VAR_004557
    Natural varianti203 – 2031D → N in HLD1. 1 Publication
    VAR_015036
    Natural varianti203 – 2031D → V in HLD1. 1 Publication
    VAR_007956
    Natural varianti205 – 2051R → G in HLD1. 1 Publication
    VAR_015037
    Natural varianti207 – 2071Y → C in HLD1. 1 Publication
    VAR_015038
    Natural varianti209 – 2091V → D in HLD1. 2 Publications
    VAR_015039
    Natural varianti210 – 2101L → H in HLD1. 1 Publication
    VAR_015040
    Natural varianti211 – 2111P → L in HLD1. 2 Publications
    VAR_015041
    Natural varianti212 – 2121W → R in HLD1. 2 Publications
    VAR_015042
    Natural varianti216 – 2161P → A in HLD1. 1 Publication
    VAR_015043
    Natural varianti216 – 2161P → S in HLD1. 2 Publications
    VAR_004558
    Natural varianti217 – 2171G → S in HLD1. 2 Publications
    VAR_004559
    Natural varianti219 – 2191V → F in HLD1. 1 Publication
    VAR_004560
    Natural varianti220 – 2201C → Y in HLD1. 1 Publication
    VAR_015044
    Natural varianti221 – 2211G → C in HLD1. 1 Publication
    VAR_004561
    Natural varianti224 – 2241L → I in HLD1/SPG2. 1 Publication
    VAR_015045
    Natural varianti224 – 2241L → P in HLD1. 1 Publication
    VAR_004562
    Natural varianti225 – 2251L → P in HLD1. 1 Publication
    VAR_046915
    Natural varianti228 – 2281C → Y in HLD1. 1 Publication
    VAR_015047
    Natural varianti234 – 2341Q → P in HLD1. 1 Publication
    VAR_015048
    Natural varianti239 – 2391L → P in HLD1. 1 Publication
    VAR_046916
    Natural varianti242 – 2421A → P in HLD1. 2 Publications
    VAR_015049
    Natural varianti243 – 2431A → E in HLD1. 1 Publication
    VAR_046917
    Natural varianti243 – 2431A → V in HLD1. 1 Publication
    VAR_046918
    Natural varianti246 – 2461G → A in HLD1. 1 Publication
    VAR_046919
    Natural varianti246 – 2461G → E in HLD1. 1 Publication
    VAR_015050
    Natural varianti247 – 2471A → T in HLD1. 1 Publication
    VAR_046920
    Natural varianti248 – 2481A → E in HLD1. 1 Publication
    VAR_015051
    Natural varianti249 – 2491A → P in HLD1. 1 Publication
    VAR_004565
    Natural varianti253 – 2531S → F in HLD1. 1 Publication
    VAR_015052
    Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301A → P in SPG2; partially retained in the endoplasmic reticulum; does not induce unfolded protein response. 1 Publication
    VAR_070667
    Natural varianti46 – 461L → P in HLD1/SPG2. 2 Publications
    VAR_015019
    Natural varianti130 – 1301H → Y in SPG2. 1 Publication
    VAR_015024
    Natural varianti137 – 1371R → W in SPG2. 1 Publication
    VAR_046910
    Natural varianti140 – 1401H → Y in SPG2. 1 Publication
    VAR_004551
    Natural varianti148 – 1481H → Y in HLD1/SPG2. 2 Publications
    VAR_015025
    Natural varianti166 – 1661V → G in HLD1/SPG2. 1 Publication
    VAR_015027
    Natural varianti170 – 1701S → F in SPG2. 1 Publication
    VAR_015029
    Natural varianti187 – 1871I → T in SPG2. 1 Publication
    VAR_004556
    Natural varianti216 – 2161P → L in SPG2. 1 Publication
    VAR_046914
    Natural varianti224 – 2241L → I in HLD1/SPG2. 1 Publication
    VAR_015045
    Natural varianti226 – 2261S → P in SPG2. 1 Publication
    VAR_015046
    Natural varianti237 – 2371F → S in SPG2. 1 Publication
    VAR_004563

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

    Organism-specific databases

    MIMi312080. phenotype.
    312920. phenotype.
    Orphaneti280234. Null syndrome.
    280229. Pelizaeus-Merzbacher disease in female carriers.
    280219. Pelizaeus-Merzbacher disease, classic form.
    280210. Pelizaeus-Merzbacher disease, connatal form.
    280224. Pelizaeus-Merzbacher disease, transitional form.
    99015. Spastic paraplegia type 2.
    PharmGKBiPA33414.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 277276Myelin proteolipid proteinPRO_0000159005Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi6 – 61S-palmitoyl cysteineBy similarity
    Lipidationi7 – 71S-palmitoyl cysteineBy similarity
    Lipidationi10 – 101S-palmitoyl cysteineBy similarity
    Lipidationi109 – 1091S-palmitoyl cysteineBy similarity
    Lipidationi139 – 1391S-palmitoyl cysteineBy similarity
    Lipidationi141 – 1411S-palmitoyl cysteineBy similarity
    Disulfide bondi184 ↔ 228By similarity
    Lipidationi199 – 1991O-palmitoyl serineBy similarity
    Disulfide bondi201 ↔ 220By similarity

    Keywords - PTMi

    Disulfide bond, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP60201.
    PRIDEiP60201.

    2D gel databases

    UCD-2DPAGEP60201.

    PTM databases

    PhosphoSiteiP60201.

    Expressioni

    Gene expression databases

    ArrayExpressiP60201.
    BgeeiP60201.
    CleanExiHS_PLP1.
    GenevestigatoriP60201.

    Organism-specific databases

    HPAiHPA004128.

    Interactioni

    Protein-protein interaction databases

    BioGridi111368. 5 interactions.
    IntActiP60201. 2 interactions.
    STRINGi9606.ENSP00000305152.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2XPGX-ray2.60C45-53[»]
    ProteinModelPortaliP60201.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 98Cytoplasmic1 Publication
    Topological domaini37 – 6327Extracellular1 PublicationAdd
    BLAST
    Topological domaini89 – 15163Cytoplasmic1 PublicationAdd
    BLAST
    Topological domaini178 – 23356Extracellular1 PublicationAdd
    BLAST
    Topological domaini261 – 27717Cytoplasmic1 PublicationAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 3627Helical; Name=1CuratedAdd
    BLAST
    Transmembranei64 – 8825Helical; Name=2CuratedAdd
    BLAST
    Transmembranei152 – 17726Helical; Name=3CuratedAdd
    BLAST
    Transmembranei234 – 26027Helical; Name=4CuratedAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the myelin proteolipid protein family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG311658.
    HOGENOMiHOG000231338.
    HOVERGENiHBG000096.
    InParanoidiP60201.
    KOiK17271.
    OMAiYTVSTTY.
    PhylomeDBiP60201.
    TreeFamiTF315162.

    Family and domain databases

    InterProiIPR001614. Myelin_PLP.
    IPR018237. Myelin_PLP_CS.
    [Graphical view]
    PANTHERiPTHR11683. PTHR11683. 1 hit.
    PfamiPF01275. Myelin_PLP. 1 hit.
    [Graphical view]
    PRINTSiPR00214. MYELINPLP.
    SMARTiSM00002. PLP. 1 hit.
    [Graphical view]
    PROSITEiPS00575. MYELIN_PLP_1. 1 hit.
    PS01004. MYELIN_PLP_2. 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: P60201-1) [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

    MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY    50
    FSKNYQDYEY LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI 100
    FGDYKTTICG KGLSATVTGG QKGRGSRGQH QAHSLERVCH CLGKWLGHPD 150
    KFVGITYALT VVWLLVFACS AVPVYIYFNT WTTCQSIAFP SKTSASIGSL 200
    CADARMYGVL PWNAFPGKVC GSNLLSICKT AEFQMTFHLF IAAFVGAAAT 250
    LVSLLTFMIA ATYNFAVLKL MGRGTKF 277
    Length:277
    Mass (Da):30,077
    Last modified:January 23, 2007 - v2
    Checksum:i3C2BC973C3061C38
    GO
    Isoform DM-20 (identifier: P60201-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         117-151: Missing.

    Show »
    Length:242
    Mass (Da):26,274
    Checksum:i90DEFE60148DC659
    GO

    Sequence cautioni

    The sequence AAA60350.1 differs from that shown. Reason: The submitted sequence only contains the last exon but the authors annotated a CDS including all exons of that gene.
    The sequence AAD13880.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti140 – 1401H → T in AAA60117. (PubMed:15489334)Curated
    Sequence conflicti185 – 1851Q → D in AAA59565. (PubMed:2479017)Curated
    Sequence conflicti213 – 2131N → I in AAA59565. (PubMed:2479017)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151P → L in HLD1. 1 Publication
    VAR_004546
    Natural varianti30 – 301A → P in SPG2; partially retained in the endoplasmic reticulum; does not induce unfolded protein response. 1 Publication
    VAR_070667
    Natural varianti31 – 311L → P in HLD1. 1 Publication
    VAR_015014
    Natural varianti32 – 321F → L in HLD1. 1 Publication
    VAR_015015
    Natural varianti32 – 321F → V in HLD1. 1 Publication
    VAR_015016
    Natural varianti33 – 331C → Y in HLD1. 1 Publication
    VAR_046906
    Natural varianti35 – 351C → R in HLD1. 1 Publication
    VAR_046907
    Natural varianti35 – 351C → Y in HLD1. 1 Publication
    VAR_015017
    Natural varianti39 – 391A → T in HLD1. 2 Publications
    VAR_015018
    Natural varianti43 – 431T → I in HLD1. 1 Publication
    VAR_004547
    Natural varianti46 – 461L → P in HLD1/SPG2. 2 Publications
    VAR_015019
    Natural varianti46 – 461L → R in HLD1. 1 Publication
    VAR_015020
    Natural varianti50 – 501Y → C in HLD1. 1 Publication
    VAR_046908
    Natural varianti51 – 511F → S in HLD1. 1 Publication
    VAR_015021
    Natural varianti60 – 601Y → C in HLD1. 1 Publication
    VAR_015022
    Natural varianti74 – 741G → R in HLD1. 3 Publications
    VAR_004548
    Natural varianti76 – 761A → P in HLD1. 1 Publication
    VAR_046909
    Natural varianti116 – 1161T → K in HLD1. 1 Publication
    VAR_015023
    Natural varianti117 – 16549Missing in HLD1.
    VAR_004550Add
    BLAST
    Natural varianti130 – 1301H → Y in SPG2. 1 Publication
    VAR_015024
    Natural varianti137 – 1371R → W in SPG2. 1 Publication
    VAR_046910
    Natural varianti140 – 1401H → Y in SPG2. 1 Publication
    VAR_004551
    Natural varianti148 – 1481H → Y in HLD1/SPG2. 2 Publications
    VAR_015025
    Natural varianti151 – 1511K → N in HLD1. 1 Publication
    VAR_015026
    Natural varianti156 – 1561T → I in HLD1. 2 Publications
    VAR_004552
    Natural varianti162 – 1621V → E in HLD1. 1 Publication
    VAR_046911
    Natural varianti163 – 1631W → R in HLD1. 1 Publication
    VAR_004553
    Natural varianti166 – 1661V → E in HLD1. 1 Publication
    VAR_004554
    Natural varianti166 – 1661V → G in HLD1/SPG2. 1 Publication
    VAR_015027
    Natural varianti169 – 1691C → R in HLD1. 1 Publication
    VAR_015028
    Natural varianti170 – 1701S → F in SPG2. 1 Publication
    VAR_015029
    Natural varianti170 – 1701S → P in HLD1. 1 Publication
    VAR_046912
    Natural varianti172 – 1721V → A in HLD1. 1 Publication
    VAR_015030
    Natural varianti173 – 1731P → S in HLD1. 1 Publication
    VAR_046913
    Natural varianti175 – 1751Y → C in HLD1. 1 Publication
    VAR_015031
    Natural varianti181 – 1811W → C in HLD1. 2 Publications
    VAR_015032
    Natural varianti182 – 1821T → P in HLD1. 1 Publication
    VAR_004555
    Natural varianti183 – 1831T → N in HLD1. 1 Publication
    VAR_015033
    Natural varianti187 – 1871I → T in SPG2. 1 Publication
    VAR_004556
    Natural varianti203 – 2031D → E in HLD1. 2 Publications
    VAR_015034
    Natural varianti203 – 2031D → G in HLD1. 1 Publication
    VAR_015035
    Natural varianti203 – 2031D → H in HLD1. 1 Publication
    VAR_004557
    Natural varianti203 – 2031D → N in HLD1. 1 Publication
    VAR_015036
    Natural varianti203 – 2031D → V in HLD1. 1 Publication
    VAR_007956
    Natural varianti205 – 2051R → G in HLD1. 1 Publication
    VAR_015037
    Natural varianti207 – 2071Y → C in HLD1. 1 Publication
    VAR_015038
    Natural varianti209 – 2091V → D in HLD1. 2 Publications
    VAR_015039
    Natural varianti210 – 2101L → H in HLD1. 1 Publication
    VAR_015040
    Natural varianti211 – 2111P → L in HLD1. 2 Publications
    VAR_015041
    Natural varianti212 – 2121W → R in HLD1. 2 Publications
    VAR_015042
    Natural varianti216 – 2161P → A in HLD1. 1 Publication
    VAR_015043
    Natural varianti216 – 2161P → L in SPG2. 1 Publication
    VAR_046914
    Natural varianti216 – 2161P → S in HLD1. 2 Publications
    VAR_004558
    Natural varianti217 – 2171G → S in HLD1. 2 Publications
    VAR_004559
    Natural varianti219 – 2191V → F in HLD1. 1 Publication
    VAR_004560
    Natural varianti220 – 2201C → Y in HLD1. 1 Publication
    VAR_015044
    Natural varianti221 – 2211G → C in HLD1. 1 Publication
    VAR_004561
    Natural varianti224 – 2241L → I in HLD1/SPG2. 1 Publication
    VAR_015045
    Natural varianti224 – 2241L → P in HLD1. 1 Publication
    VAR_004562
    Natural varianti225 – 2251L → P in HLD1. 1 Publication
    VAR_046915
    Natural varianti226 – 2261S → P in SPG2. 1 Publication
    VAR_015046
    Natural varianti228 – 2281C → Y in HLD1. 1 Publication
    VAR_015047
    Natural varianti234 – 2341Q → P in HLD1. 1 Publication
    VAR_015048
    Natural varianti237 – 2371F → S in SPG2. 1 Publication
    VAR_004563
    Natural varianti239 – 2391L → P in HLD1. 1 Publication
    VAR_046916
    Natural varianti242 – 2421A → P in HLD1. 2 Publications
    VAR_015049
    Natural varianti243 – 2431A → E in HLD1. 1 Publication
    VAR_046917
    Natural varianti243 – 2431A → V in HLD1. 1 Publication
    VAR_046918
    Natural varianti246 – 2461G → A in HLD1. 1 Publication
    VAR_046919
    Natural varianti246 – 2461G → E in HLD1. 1 Publication
    VAR_015050
    Natural varianti247 – 2471A → T in HLD1. 1 Publication
    VAR_046920
    Natural varianti248 – 2481A → E in HLD1. 1 Publication
    VAR_015051
    Natural varianti249 – 2491A → P in HLD1. 1 Publication
    VAR_004565
    Natural varianti253 – 2531S → F in HLD1. 1 Publication
    VAR_015052

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei117 – 15135Missing in isoform DM-20. 3 PublicationsVSP_003325Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M15032
    , M15026, M15027, M15028, M15029, M15031 Genomic DNA. Translation: AAA60350.1. Sequence problems.
    AJ006976 Genomic DNA. Translation: CAA07364.1.
    M54927 mRNA. Translation: AAA59565.1.
    M17085 mRNA. Translation: AAA60118.1.
    M27110 mRNA. Translation: AAA60117.1.
    CR536542 mRNA. Translation: CAG38779.1.
    Z73964 Genomic DNA. Translation: CAA98191.1.
    Z73964 Genomic DNA. Translation: CAI42028.1.
    CH471190 Genomic DNA. Translation: EAW54690.1.
    BC002665 mRNA. Translation: AAH02665.1.
    BC095452 mRNA. Translation: AAH95452.1.
    D13320 Genomic DNA. Translation: BAA02577.1.
    S55837 Genomic DNA. Translation: AAD13880.1. Sequence problems.
    CCDSiCCDS14513.1. [P60201-1]
    CCDS14514.1. [P60201-2]
    PIRiA26665. MPHUPL.
    RefSeqiNP_000524.3. NM_000533.3. [P60201-1]
    NP_001122306.1. NM_001128834.1. [P60201-1]
    NP_955772.1. NM_199478.1. [P60201-2]
    UniGeneiHs.1787.

    Genome annotation databases

    EnsembliENST00000303958; ENSP00000305152; ENSG00000123560. [P60201-1]
    ENST00000361621; ENSP00000354860; ENSG00000123560. [P60201-2]
    ENST00000418604; ENSP00000405750; ENSG00000123560. [P60201-1]
    GeneIDi5354.
    KEGGihsa:5354.
    UCSCiuc004elj.3. human. [P60201-2]
    uc004elk.3. human. [P60201-1]

    Polymorphism databases

    DMDMi41393531.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M15032
    , M15026 , M15027 , M15028 , M15029 , M15031 Genomic DNA. Translation: AAA60350.1 . Sequence problems.
    AJ006976 Genomic DNA. Translation: CAA07364.1 .
    M54927 mRNA. Translation: AAA59565.1 .
    M17085 mRNA. Translation: AAA60118.1 .
    M27110 mRNA. Translation: AAA60117.1 .
    CR536542 mRNA. Translation: CAG38779.1 .
    Z73964 Genomic DNA. Translation: CAA98191.1 .
    Z73964 Genomic DNA. Translation: CAI42028.1 .
    CH471190 Genomic DNA. Translation: EAW54690.1 .
    BC002665 mRNA. Translation: AAH02665.1 .
    BC095452 mRNA. Translation: AAH95452.1 .
    D13320 Genomic DNA. Translation: BAA02577.1 .
    S55837 Genomic DNA. Translation: AAD13880.1 . Sequence problems.
    CCDSi CCDS14513.1. [P60201-1 ]
    CCDS14514.1. [P60201-2 ]
    PIRi A26665. MPHUPL.
    RefSeqi NP_000524.3. NM_000533.3. [P60201-1 ]
    NP_001122306.1. NM_001128834.1. [P60201-1 ]
    NP_955772.1. NM_199478.1. [P60201-2 ]
    UniGenei Hs.1787.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2XPG X-ray 2.60 C 45-53 [» ]
    ProteinModelPortali P60201.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111368. 5 interactions.
    IntActi P60201. 2 interactions.
    STRINGi 9606.ENSP00000305152.

    PTM databases

    PhosphoSitei P60201.

    Polymorphism databases

    DMDMi 41393531.

    2D gel databases

    UCD-2DPAGE P60201.

    Proteomic databases

    PaxDbi P60201.
    PRIDEi P60201.

    Protocols and materials databases

    DNASUi 5354.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303958 ; ENSP00000305152 ; ENSG00000123560 . [P60201-1 ]
    ENST00000361621 ; ENSP00000354860 ; ENSG00000123560 . [P60201-2 ]
    ENST00000418604 ; ENSP00000405750 ; ENSG00000123560 . [P60201-1 ]
    GeneIDi 5354.
    KEGGi hsa:5354.
    UCSCi uc004elj.3. human. [P60201-2 ]
    uc004elk.3. human. [P60201-1 ]

    Organism-specific databases

    CTDi 5354.
    GeneCardsi GC0XP103028.
    GeneReviewsi PLP1.
    HGNCi HGNC:9086. PLP1.
    HPAi HPA004128.
    MIMi 300401. gene.
    312080. phenotype.
    312920. phenotype.
    neXtProti NX_P60201.
    Orphaneti 280234. Null syndrome.
    280229. Pelizaeus-Merzbacher disease in female carriers.
    280219. Pelizaeus-Merzbacher disease, classic form.
    280210. Pelizaeus-Merzbacher disease, connatal form.
    280224. Pelizaeus-Merzbacher disease, transitional form.
    99015. Spastic paraplegia type 2.
    PharmGKBi PA33414.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG311658.
    HOGENOMi HOG000231338.
    HOVERGENi HBG000096.
    InParanoidi P60201.
    KOi K17271.
    OMAi YTVSTTY.
    PhylomeDBi P60201.
    TreeFami TF315162.

    Miscellaneous databases

    ChiTaRSi PLP1. human.
    GeneWikii Proteolipid_protein_1.
    GenomeRNAii 5354.
    NextBioi 20752.
    PROi P60201.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P60201.
    Bgeei P60201.
    CleanExi HS_PLP1.
    Genevestigatori P60201.

    Family and domain databases

    InterProi IPR001614. Myelin_PLP.
    IPR018237. Myelin_PLP_CS.
    [Graphical view ]
    PANTHERi PTHR11683. PTHR11683. 1 hit.
    Pfami PF01275. Myelin_PLP. 1 hit.
    [Graphical view ]
    PRINTSi PR00214. MYELINPLP.
    SMARTi SM00002. PLP. 1 hit.
    [Graphical view ]
    PROSITEi PS00575. MYELIN_PLP_1. 1 hit.
    PS01004. MYELIN_PLP_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Individual exons encode the integral membrane domains of human myelin proteolipid protein."
      Diehl H.-J., Schaich M., Budzinski R.-M., Stoffel W.
      Proc. Natl. Acad. Sci. U.S.A. 83:9807-9811(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence."
      Simons R., Alon N., Riordan J.R.
      Biochem. Biophys. Res. Commun. 146:666-671(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM DM-20).
    3. "Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder."
      Hudson L.D., Puckett C., Berndt J., Chan J., Gencic S.
      Proc. Natl. Acad. Sci. U.S.A. 86:8128-8131(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HLD1 ARG-163.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM DM-20).
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND DM-20).
      Tissue: Spinal cord and Uterus.
    8. "Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved."
      Stoffel W., Giersiefen H., Hillen H., Schroeder W., Tunggal B.
      Biol. Chem. Hoppe-Seyler 366:627-635(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-277.
    9. "Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA."
      Kronquist K.E., Crandall B.F., Macklin W.B., Campagnoni A.T.
      J. Neurosci. Res. 18:395-401(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Spinal cord.
    10. "Major myelin proteolipid: the 4-alpha-helix topology."
      Popot J.-L., Pham-Dinh D., Dautigny A.
      J. Membr. Biol. 120:233-246(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: TOPOLOGY.
    11. "Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein."
      Gencic S., Abuelo D., Ambler M., Hudson L.D.
      Am. J. Hum. Genet. 45:435-442(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 SER-217.
    12. "Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant."
      Trofatter J., Dlouhy S.R., Demyer W., Conneally P.M., Hodes M.E.
      Proc. Natl. Acad. Sci. U.S.A. 86:9427-9430(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 LEU-15.
    13. "A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis."
      Weimbs T., Dick T., Stoffel W., Boltshauser E.
      Biol. Chem. Hoppe-Seyler 371:1175-1183(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 ILE-156.
    14. "A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease."
      Pratt V.M., Trofatter J.A., Schinzel A., Dlouhy S.R., Conneally P.M., Hodes M.E.
      Am. J. Med. Genet. 38:136-139(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 ILE-156.
    15. "Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid."
      Pham-Dinh D., Popot J.-L., Bosepflug-Tanguy O., Landrieu P., Deleuze P., Boue J., Jolles P., Dautigny A.
      Proc. Natl. Acad. Sci. U.S.A. 88:7562-7566(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 PHE-219.
    16. "Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease."
      Doll R., Natowicz M.R., Schiffmann R., Smith F.I.
      Am. J. Hum. Genet. 51:161-169(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 ARG-74 AND HIS-203.
    17. "Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis."
      Strautnieks S., Rutland P., Winter R.M., Baraitser M., Malcolm S.
      Am. J. Hum. Genet. 51:871-878(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 PRO-182 AND PRO-224.
    18. "Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred."
      Pratt V.M., Kiefer J.R., Lahdetie J., Schleutker J., Hodes M.E., Dlouhy S.R.
      Am. J. Hum. Genet. 52:1053-1056(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 GLU-166.
    19. "A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease."
      Otterbach B., Stoffel W., Ramaekers V.
      Biol. Chem. Hoppe-Seyler 374:75-83(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 SER-217.
    20. "A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family."
      Iwaki A., Muramoto T., Iwaki I., Furumi H., Dario-Deleon M.L., Tateishi J., Fukumaki Y.
      Hum. Mol. Genet. 2:19-22(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 CYS-221.
    21. "Comparison of statistics for candidate-gene association studies using cases and parents."
      Pratt V.M., Boyadjiev S., Dlouhy S.R., Silver K., der Kaloustian V.M., Hodes M.E.
      Am. J. Hum. Genet. 55:402-409(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 SER-216.
    22. "X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus."
      Saugier-Veber P., Munnich A., Bonneau D., Rozet J.-M., le Merrer M., Gil R., Boespflug-Tanguy O.
      Nat. Genet. 6:257-262(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 TYR-140.
    23. "The rumpshaker mutation in spastic paraplegia."
      Kobayashi H., Hoffman E.P., Marks H.G.
      Nat. Genet. 7:351-352(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 THR-187.
    24. "In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease."
      Kleindorfer D.O., Dlouhy S.R., Pratt V.M., Jones M.C., Trofatter J.A., Hodes M.E.
      Am. J. Med. Genet. 55:405-407(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 116-VAL--LEU-165 DEL.
    25. "Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus."
      Pratt V.M., Boyadjiev S., Green K., Hodes M.E., Dlouhy S.R.
      Am. J. Med. Genet. 58:70-73(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 ILE-43.
    26. "Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene."
      Pratt V.M., Dlouhy S.R., Hodes M.E.
      Clin. Genet. 47:99-100(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 PRO-249.
    27. "A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease."
      Pratt V.M., Naidu S., Dlouhy S.R., Marks H.G., Hodes M.E.
      Neurology 45:394-395(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 ASN-151.
    28. "A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia."
      Donnelly A., Colley A., Crimmins D., Mulley J.
      Hum. Mutat. 8:384-385(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 SER-237.
    29. "Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia."
      Cambi F., Tang X.M., Cordray P., Fain P.R., Keppen L.D., Barker D.F.
      Neurology 46:1112-1117(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 PRO-226.
    30. "Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease."
      Nance M.A., Boyadjiev S., Pratt V.M., Taylor S., Hodes M.E., Dlouhy S.R.
      Neurology 47:1333-1335(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 LYS-116.
    31. "A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease."
      Kawanishi C., Osaka H., Owa K., Inoue K., Miyakawa T., Onishi H., Yamada Y., Suzuki K., Kimura S., Kosaka K.
      Hum. Mutat. 9:475-476(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 PRO-242.
    32. "Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease."
      Inoue K., Osaka H., Kawanishi C., Sugiyama N., Ishii M., Sugita K., Yamada Y., Kosaka K.
      Neurology 48:283-285(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 ASP-209 AND LEU-211.
    33. "Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease."
      Yamamoto T., Nanba E., Zhang H., Sasaki M., Komaki H., Takeshita K.
      Am. J. Med. Genet. 75:439-440(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 VAL-243.
    34. "X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)."
      Hodes M.E., Hadjisavvas A., Butler I.J., Aydanian A., Dlouhy S.R.
      Am. J. Med. Genet. 75:516-517(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 PHE-170.
    35. "A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease."
      Hodes M.E., Aydanian A., Dlouhy S.R., Whelan D.T., Heshka T., Ronen G.
      Clin. Genet. 54:248-249(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 PHE-253.
    36. "Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene."
      Nagao M., Kadowaki J.
      J. Hum. Genet. 43:206-208(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 VAL-203.
    37. "Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease."
      Sistermans E.A., de Coo R.F.M., De Wijs I.J., Van Oost B.A.
      Neurology 50:1749-1754(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 VAL-32; ALA-172; GLY-205 AND CYS-207.
    38. "Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not."
      Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., Boespflug-Tanguy O., Baethmann M., Bertini E., Cuisset J.M., Gaertner J., Hanefeld F., Kohlschutter A., Landrieu P., Mayer M., Peudenier S., Rodriguez D., Rating D.
      , Surtees R., Uziel G., Vallee L., Voit T.
      Am. J. Hum. Genet. 65:360-369(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 TYR-35; THR-39; CYS-60; ARG-74; ARG-169; CYS-175; CYS-181; ASN-183; ASN-203; GLU-203; GLY-203; HIS-210; ARG-212; SER-216; TYR-228; PRO-234; GLU-246 AND GLU-248.
    39. "Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)."
      Hodes M.E., Zimmerman A.W., Aydanian A., Naidu S., Miller N.R., Garcia Oller J.L., Barker B., Aleck K.A., Hurley T.D., Dlouhy S.R.
      Am. J. Med. Genet. 82:132-139(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1/SPG2 PRO-46; GLY-166 AND ILE-224.
    40. "Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity."
      Osaka H., Kawanishi C., Inoue K., Onishi H., Kobayashi T., Sugiyama N., Kosaka K., Nezu A., Fujii K., Sugita K., Kodama K., Murayama K., Murayama S., Kanazawa I., Kimura S.
      Ann. Neurol. 45:59-64(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 ARG-46; ASP-209; LEU-211; TYR-220 AND PRO-242.
    41. "Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members."
      Sivakumar K., Sambuughin N., Selenge B., Nagle J.W., Baasanjav D., Hudson L.D., Goldfarb L.G.
      Ann. Neurol. 45:680-683(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 TYR-148.
    42. "A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease."
      Yamamoto T., Nanba E.
      Hum. Mutat. 14:182-182(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 THR-247.
    43. Cited for: VARIANTS HLD1 PRO-31; LEU-32; SER-51; ARG-74; CYS-181; GLU-203; ARG-212 AND ALA-216, VARIANT SPG2 TYR-130.
    44. "A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene."
      Seeman P., Paderova K., Benes V. Jr., Sistermans E.A.
      Int. J. Mol. Med. 9:125-129(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLD1 GLU-243.
    45. "A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene."
      Lee E.S., Moon H.K., Park Y.H., Garbern J., Hobson G.M.
      J. Neurol. Sci. 224:83-87(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 LEU-216.
    46. "Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease."
      Huebner C.A., Orth U., Senning A., Steglich C., Kohlschuetter A., Korinthenberg R., Gal A.
      Hum. Mutat. 25:321-322(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLD1 TYR-33; ARG-35; THR-39; PRO-46; CYS-50; PRO-76; TYR-148; GLU-162; PRO-170; SER-173; PRO-225; PRO-239 AND ALA-246.
    47. "Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation."
      Gorman M.P., Golomb M.R., Walsh L.E., Hobson G.M., Garbern J.Y., Kinkel R.P., Darras B.T., Urion D.K., Eksioglu Y.Z.
      Neurology 68:1305-1307(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 TRP-137.
    48. "A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2."
      Noetzli L., Sanz P.G., Brodsky G.L., Hinckley J.D., Giugni J.C., Giannaula R.J., Gonzalez-Alegre P., Di Paola J.
      Gene 533:447-450(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG2 PRO-30, CHARACTERIZATION OF VARIANT SPG2 PRO-30, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiMYPR_HUMAN
    AccessioniPrimary (citable) accession number: P60201
    Secondary accession number(s): P04400
    , P06905, Q502Y1, Q6FHZ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1988
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3