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Protein

Myelin proteolipid protein

Gene

PLP1

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

  • structural constituent of myelin sheath Source: Ensembl
  • structural molecule activity Source: ProtInc

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:9086. PLP1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 98Cytoplasmic1 Publication
Transmembranei10 – 3627Helical; Name=1CuratedAdd
BLAST
Topological domaini37 – 6327Extracellular1 PublicationAdd
BLAST
Transmembranei64 – 8825Helical; Name=2CuratedAdd
BLAST
Topological domaini89 – 15163Cytoplasmic1 PublicationAdd
BLAST
Transmembranei152 – 17726Helical; Name=3CuratedAdd
BLAST
Topological domaini178 – 23356Extracellular1 PublicationAdd
BLAST
Transmembranei234 – 26027Helical; Name=4CuratedAdd
BLAST
Topological domaini261 – 27717Cytoplasmic1 PublicationAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • myelin sheath Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, hypomyelinating, 1 (HLD1)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:312080
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151P → L in HLD1. 1 Publication
Corresponds to variant rs11543022 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630289 [ dbSNP | Ensembl ].
VAR_004547
Natural varianti46 – 461L → P in HLD1. 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
Corresponds to variant rs132630285 [ dbSNP | Ensembl ].
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 and SPG2. 2 Publications
VAR_015025
Natural varianti151 – 1511K → N in HLD1. 1 Publication
VAR_015026
Natural varianti156 – 1561T → I in HLD1. 2 Publications
Corresponds to variant rs132630280 [ dbSNP | Ensembl ].
VAR_004552
Natural varianti162 – 1621V → E in HLD1. 1 Publication
VAR_046911
Natural varianti163 – 1631W → R in HLD1. 1 Publication
Corresponds to variant rs132630279 [ dbSNP | Ensembl ].
VAR_004553
Natural varianti166 – 1661V → E in HLD1. 1 Publication
VAR_004554
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
Corresponds to variant rs132630282 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630284 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630278 [ dbSNP | Ensembl ].
VAR_004558
Natural varianti217 – 2171G → S in HLD1. 2 Publications
VAR_004559
Natural varianti219 – 2191V → F in HLD1. 1 Publication
Corresponds to variant rs132630281 [ dbSNP | Ensembl ].
VAR_004560
Natural varianti220 – 2201C → Y in HLD1. 1 Publication
VAR_015044
Natural varianti221 – 2211G → C in HLD1. 1 Publication
Corresponds to variant rs132630286 [ dbSNP | Ensembl ].
VAR_004561
Natural varianti224 – 2241L → P in HLD1. 1 Publication
Corresponds to variant rs132630283 [ dbSNP | Ensembl ].
VAR_004562
Natural varianti225 – 2251L → P in HLD1. 1 Publication
VAR_046915
Natural varianti228 – 2281C → Y in HLD1. 1 Publication
Corresponds to variant rs398123466 [ dbSNP | Ensembl ].
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
Corresponds to variant rs398123467 [ dbSNP | Ensembl ].
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)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:312920
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 varianti130 – 1301H → Y in SPG2. 1 Publication
VAR_015024
Natural varianti137 – 1371R → W in SPG2. 1 Publication
Corresponds to variant rs132630295 [ dbSNP | Ensembl ].
VAR_046910
Natural varianti140 – 1401H → Y in SPG2. 1 Publication
Corresponds to variant rs132630287 [ dbSNP | Ensembl ].
VAR_004551
Natural varianti148 – 1481H → Y in HLD1 and SPG2. 2 Publications
VAR_015025
Natural varianti170 – 1701S → F in SPG2. 1 Publication
Corresponds to variant rs132630294 [ dbSNP | Ensembl ].
VAR_015029
Natural varianti187 – 1871I → T in SPG2. 1 Publication
Corresponds to variant rs132630288 [ dbSNP | Ensembl ].
VAR_004556
Natural varianti216 – 2161P → L in SPG2. 1 Publication
VAR_046914
Natural varianti226 – 2261S → P in SPG2. 1 Publication
VAR_015046
Natural varianti237 – 2371F → S in SPG2. 1 Publication
Corresponds to variant rs132630291 [ dbSNP | Ensembl ].
VAR_004563

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

MalaCardsiPLP1.
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.

Polymorphism and mutation databases

BioMutaiPLP1.
DMDMi41393531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 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
Modified residuei114 – 1141PhosphoserineBy similarity
Modified residuei116 – 1161PhosphothreonineBy similarity
Modified residuei118 – 1181PhosphothreonineBy 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, Phosphoprotein

Proteomic databases

EPDiP60201.
PaxDbiP60201.
PeptideAtlasiP60201.
PRIDEiP60201.

2D gel databases

UCD-2DPAGEP60201.

PTM databases

iPTMnetiP60201.
PhosphoSiteiP60201.
SwissPalmiP60201.

Expressioni

Gene expression databases

BgeeiENSG00000123560.
CleanExiHS_PLP1.
ExpressionAtlasiP60201. baseline and differential.
GenevisibleiP60201. HS.

Organism-specific databases

HPAiHPA004128.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PTPRNQ16849-33EBI-8653150,EBI-10200782

Protein-protein interaction databases

BioGridi111368. 21 interactions.
IntActiP60201. 3 interactions.
STRINGi9606.ENSP00000305152.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the myelin proteolipid protein family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4800. Eukaryota.
ENOG4110EPW. LUCA.
GeneTreeiENSGT00390000006915.
HOGENOMiHOG000231338.
HOVERGENiHBG000096.
InParanoidiP60201.
KOiK17271.
OMAiYCIVLLA.
OrthoDBiEOG091G0IM5.
PhylomeDBiP60201.
TreeFamiTF315162.

Family and domain databases

InterProiIPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]
PANTHERiPTHR11683. PTHR11683. 2 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
MGLLECCARC LVGAPFASLV ATGLCFFGVA LFCGCGHEAL TGTEKLIETY
60 70 80 90 100
FSKNYQDYEY LINVIHAFQY VIYGTASFFF LYGALLLAEG FYTTGAVRQI
110 120 130 140 150
FGDYKTTICG KGLSATVTGG QKGRGSRGQH QAHSLERVCH CLGKWLGHPD
160 170 180 190 200
KFVGITYALT VVWLLVFACS AVPVYIYFNT WTTCQSIAFP SKTSASIGSL
210 220 230 240 250
CADARMYGVL PWNAFPGKVC GSNLLSICKT AEFQMTFHLF IAAFVGAAAT
260 270
LVSLLTFMIA ATYNFAVLKL MGRGTKF
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 differs from that shown.The submitted sequence only contains the last exon but the authors annotated a CDS including all exons of that gene.Curated
The sequence AAD13880 differs from that shown. Reason: Erroneous gene model prediction. Curated

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
Corresponds to variant rs11543022 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630289 [ dbSNP | Ensembl ].
VAR_004547
Natural varianti46 – 461L → P in HLD1. 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
Corresponds to variant rs132630285 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630295 [ dbSNP | Ensembl ].
VAR_046910
Natural varianti140 – 1401H → Y in SPG2. 1 Publication
Corresponds to variant rs132630287 [ dbSNP | Ensembl ].
VAR_004551
Natural varianti148 – 1481H → Y in HLD1 and SPG2. 2 Publications
VAR_015025
Natural varianti151 – 1511K → N in HLD1. 1 Publication
VAR_015026
Natural varianti156 – 1561T → I in HLD1. 2 Publications
Corresponds to variant rs132630280 [ dbSNP | Ensembl ].
VAR_004552
Natural varianti162 – 1621V → E in HLD1. 1 Publication
VAR_046911
Natural varianti163 – 1631W → R in HLD1. 1 Publication
Corresponds to variant rs132630279 [ dbSNP | Ensembl ].
VAR_004553
Natural varianti166 – 1661V → E in HLD1. 1 Publication
VAR_004554
Natural varianti166 – 1661V → G Probable disease-associated mutation found in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. 1 Publication
VAR_015027
Natural varianti169 – 1691C → R in HLD1. 1 Publication
VAR_015028
Natural varianti170 – 1701S → F in SPG2. 1 Publication
Corresponds to variant rs132630294 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630282 [ dbSNP | Ensembl ].
VAR_004555
Natural varianti183 – 1831T → N in HLD1. 1 Publication
VAR_015033
Natural varianti187 – 1871I → T in SPG2. 1 Publication
Corresponds to variant rs132630288 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630284 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630278 [ dbSNP | Ensembl ].
VAR_004558
Natural varianti217 – 2171G → S in HLD1. 2 Publications
VAR_004559
Natural varianti219 – 2191V → F in HLD1. 1 Publication
Corresponds to variant rs132630281 [ dbSNP | Ensembl ].
VAR_004560
Natural varianti220 – 2201C → Y in HLD1. 1 Publication
VAR_015044
Natural varianti221 – 2211G → C in HLD1. 1 Publication
Corresponds to variant rs132630286 [ dbSNP | Ensembl ].
VAR_004561
Natural varianti224 – 2241L → I Probable disease-associated mutation found in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. 1 Publication
VAR_015045
Natural varianti224 – 2241L → P in HLD1. 1 Publication
Corresponds to variant rs132630283 [ dbSNP | Ensembl ].
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
Corresponds to variant rs398123466 [ dbSNP | Ensembl ].
VAR_015047
Natural varianti234 – 2341Q → P in HLD1. 1 Publication
VAR_015048
Natural varianti237 – 2371F → S in SPG2. 1 Publication
Corresponds to variant rs132630291 [ dbSNP | Ensembl ].
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
Corresponds to variant rs398123467 [ dbSNP | Ensembl ].
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:
EMBLi
GenBanki
DDBJi
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_000533.4. [P60201-1]
NP_001122306.1. NM_001128834.2. [P60201-1]
NP_001291933.1. NM_001305004.1.
NP_955772.1. NM_199478.2. [P60201-2]
UniGeneiHs.1787.

Genome annotation databases

EnsembliENST00000612423; ENSP00000481006; ENSG00000123560. [P60201-1]
ENST00000619236; ENSP00000477619; ENSG00000123560. [P60201-2]
ENST00000621218; ENSP00000484450; ENSG00000123560. [P60201-1]
GeneIDi5354.
KEGGihsa:5354.
UCSCiuc033epn.2. human. [P60201-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000533.4. [P60201-1]
NP_001122306.1. NM_001128834.2. [P60201-1]
NP_001291933.1. NM_001305004.1.
NP_955772.1. NM_199478.2. [P60201-2]
UniGeneiHs.1787.

3D structure databases

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

Protein-protein interaction databases

BioGridi111368. 21 interactions.
IntActiP60201. 3 interactions.
STRINGi9606.ENSP00000305152.

PTM databases

iPTMnetiP60201.
PhosphoSiteiP60201.
SwissPalmiP60201.

Polymorphism and mutation databases

BioMutaiPLP1.
DMDMi41393531.

2D gel databases

UCD-2DPAGEP60201.

Proteomic databases

EPDiP60201.
PaxDbiP60201.
PeptideAtlasiP60201.
PRIDEiP60201.

Protocols and materials databases

DNASUi5354.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000612423; ENSP00000481006; ENSG00000123560. [P60201-1]
ENST00000619236; ENSP00000477619; ENSG00000123560. [P60201-2]
ENST00000621218; ENSP00000484450; ENSG00000123560. [P60201-1]
GeneIDi5354.
KEGGihsa:5354.
UCSCiuc033epn.2. human. [P60201-1]

Organism-specific databases

CTDi5354.
GeneCardsiPLP1.
GeneReviewsiPLP1.
HGNCiHGNC:9086. PLP1.
HPAiHPA004128.
MalaCardsiPLP1.
MIMi300401. gene.
312080. phenotype.
312920. phenotype.
neXtProtiNX_P60201.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4800. Eukaryota.
ENOG4110EPW. LUCA.
GeneTreeiENSGT00390000006915.
HOGENOMiHOG000231338.
HOVERGENiHBG000096.
InParanoidiP60201.
KOiK17271.
OMAiYCIVLLA.
OrthoDBiEOG091G0IM5.
PhylomeDBiP60201.
TreeFamiTF315162.

Miscellaneous databases

ChiTaRSiPLP1. human.
GeneWikiiProteolipid_protein_1.
GenomeRNAii5354.
PROiP60201.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123560.
CleanExiHS_PLP1.
ExpressionAtlasiP60201. baseline and differential.
GenevisibleiP60201. HS.

Family and domain databases

InterProiIPR001614. Myelin_PLP.
IPR018237. Myelin_PLP_CS.
[Graphical view]
PANTHERiPTHR11683. PTHR11683. 2 hits.
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]
ProtoNetiSearch...

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 7, 2016
This is version 136 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

Similar proteinsi

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