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P60201

- MYPR_HUMAN

UniProt

P60201 - MYPR_HUMAN

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Protein
Myelin proteolipid protein
Gene
PLP1, PLP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 98Cytoplasmic Inferred
Transmembranei10 – 3627Helical; Name=1; Inferred
Add
BLAST
Topological domaini37 – 6327Extracellular Inferred
Add
BLAST
Transmembranei64 – 8825Helical; Name=2; Inferred
Add
BLAST
Topological domaini89 – 15163Cytoplasmic Inferred
Add
BLAST
Transmembranei152 – 17726Helical; Name=3; Inferred
Add
BLAST
Topological domaini178 – 23356Extracellular Inferred
Add
BLAST
Transmembranei234 – 26027Helical; Name=4; Inferred
Add
BLAST
Topological domaini261 – 27717Cytoplasmic Inferred
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.30 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.10 Publications
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 protein
PRO_0000159005Add
BLAST

Amino acid modifications

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

Family & Domainsi

Sequence similaritiesi

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.

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.
VSP_003325Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti140 – 1401H → T in AAA60117. 1 Publication
Sequence conflicti185 – 1851Q → D in AAA59565. 1 Publication
Sequence conflicti213 – 2131N → I in AAA59565. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 120 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

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