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Protein

Myelin proteolipid protein

Gene

PLP1

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

  • identical protein binding Source: IntAct
  • structural constituent of myelin sheath Source: Ensembl
  • structural molecule activity Source: ProtInc

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000123560.13
HGNCiHGNC:9086 PLP1
MIMi300401 gene
neXtProtiNX_P60201

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 9Cytoplasmic1 Publication8
Transmembranei10 – 36Helical; Name=1CuratedAdd BLAST27
Topological domaini37 – 63Extracellular1 PublicationAdd BLAST27
Transmembranei64 – 88Helical; Name=2CuratedAdd BLAST25
Topological domaini89 – 151Cytoplasmic1 PublicationAdd BLAST63
Transmembranei152 – 177Helical; Name=3CuratedAdd BLAST26
Topological domaini178 – 233Extracellular1 PublicationAdd BLAST56
Transmembranei234 – 260Helical; Name=4CuratedAdd BLAST27
Topological domaini261 – 277Cytoplasmic1 PublicationAdd BLAST17

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00454615P → L in HLD1. 1 PublicationCorresponds to variant dbSNP:rs11543022EnsemblClinVar.1
Natural variantiVAR_01501431L → P in HLD1. 1 Publication1
Natural variantiVAR_01501532F → L in HLD1. 1 Publication1
Natural variantiVAR_01501632F → V in HLD1. 1 Publication1
Natural variantiVAR_04690633C → Y in HLD1. 1 PublicationCorresponds to variant dbSNP:rs1064794255Ensembl.1
Natural variantiVAR_04690735C → R in HLD1. 1 Publication1
Natural variantiVAR_01501735C → Y in HLD1. 1 Publication1
Natural variantiVAR_01501839A → T in HLD1. 2 Publications1
Natural variantiVAR_00454743T → I in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630289EnsemblClinVar.1
Natural variantiVAR_01501946L → P in HLD1. 2 Publications1
Natural variantiVAR_01502046L → R in HLD1. 1 Publication1
Natural variantiVAR_04690850Y → C in HLD1. 1 Publication1
Natural variantiVAR_01502151F → S in HLD1. 1 Publication1
Natural variantiVAR_01502260Y → C in HLD1. 1 Publication1
Natural variantiVAR_00454874G → R in HLD1. 3 PublicationsCorresponds to variant dbSNP:rs132630285EnsemblClinVar.1
Natural variantiVAR_04690976A → P in HLD1. 1 Publication1
Natural variantiVAR_015023116T → K in HLD1. 1 Publication1
Natural variantiVAR_004550117 – 165Missing in HLD1. Add BLAST49
Natural variantiVAR_015026151K → N in HLD1. 1 Publication1
Natural variantiVAR_004552156T → I in HLD1. 2 PublicationsCorresponds to variant dbSNP:rs132630280EnsemblClinVar.1
Natural variantiVAR_046911162V → E in HLD1. 1 Publication1
Natural variantiVAR_004553163W → R in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630279EnsemblClinVar.1
Natural variantiVAR_004554166V → E in HLD1. 1 Publication1
Natural variantiVAR_015028169C → R in HLD1. 1 Publication1
Natural variantiVAR_046912170S → P in HLD1. 1 Publication1
Natural variantiVAR_015030172V → A in HLD1. 1 Publication1
Natural variantiVAR_046913173P → S in HLD1. 1 Publication1
Natural variantiVAR_015031175Y → C in HLD1. 1 Publication1
Natural variantiVAR_015032181W → C in HLD1. 2 Publications1
Natural variantiVAR_004555182T → P in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630282EnsemblClinVar.1
Natural variantiVAR_015033183T → N in HLD1. 1 Publication1
Natural variantiVAR_015034203D → E in HLD1. 2 Publications1
Natural variantiVAR_015035203D → G in HLD1. 1 Publication1
Natural variantiVAR_004557203D → H in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630284EnsemblClinVar.1
Natural variantiVAR_015036203D → N in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630284EnsemblClinVar.1
Natural variantiVAR_007956203D → V in HLD1. 1 Publication1
Natural variantiVAR_015037205R → G in HLD1. 1 Publication1
Natural variantiVAR_015038207Y → C in HLD1. 1 Publication1
Natural variantiVAR_015039209V → D in HLD1. 2 Publications1
Natural variantiVAR_015040210L → H in HLD1. 1 Publication1
Natural variantiVAR_015041211P → L in HLD1. 2 Publications1
Natural variantiVAR_015042212W → R in HLD1. 2 Publications1
Natural variantiVAR_015043216P → A in HLD1. 1 Publication1
Natural variantiVAR_004558216P → S in HLD1. 2 PublicationsCorresponds to variant dbSNP:rs132630278EnsemblClinVar.1
Natural variantiVAR_004559217G → S in HLD1. 2 Publications1
Natural variantiVAR_004560219V → F in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630281EnsemblClinVar.1
Natural variantiVAR_015044220C → Y in HLD1. 1 Publication1
Natural variantiVAR_004561221G → C in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630286EnsemblClinVar.1
Natural variantiVAR_004562224L → P in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630283EnsemblClinVar.1
Natural variantiVAR_046915225L → P in HLD1. 1 Publication1
Natural variantiVAR_015047228C → Y in HLD1. 1 PublicationCorresponds to variant dbSNP:rs398123466EnsemblClinVar.1
Natural variantiVAR_015048234Q → P in HLD1. 1 Publication1
Natural variantiVAR_046916239L → P in HLD1. 1 Publication1
Natural variantiVAR_015049242A → P in HLD1. 2 Publications1
Natural variantiVAR_046917243A → E in HLD1. 1 Publication1
Natural variantiVAR_046918243A → V in HLD1. 1 Publication1
Natural variantiVAR_046919246G → A in HLD1. 1 PublicationCorresponds to variant dbSNP:rs398123467EnsemblClinVar.1
Natural variantiVAR_015050246G → E in HLD1. 1 Publication1
Natural variantiVAR_046920247A → T in HLD1. 1 PublicationCorresponds to variant dbSNP:rs886043504EnsemblClinVar.1
Natural variantiVAR_015051248A → E in HLD1. 1 Publication1
Natural variantiVAR_004565249A → P in HLD1. 1 Publication1
Natural variantiVAR_015052253S → F in HLD1. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07066730A → P in SPG2; partially retained in the endoplasmic reticulum; does not induce unfolded protein response. 1 Publication1
Natural variantiVAR_015024130H → Y in SPG2. 1 PublicationCorresponds to variant dbSNP:rs878853076EnsemblClinVar.1
Natural variantiVAR_046910137R → W in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630295EnsemblClinVar.1
Natural variantiVAR_004551140H → Y in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630287EnsemblClinVar.1
Natural variantiVAR_015029170S → F in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630294EnsemblClinVar.1
Natural variantiVAR_004556187I → T in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630288EnsemblClinVar.1
Natural variantiVAR_046914216P → L in SPG2. 1 Publication1
Natural variantiVAR_015046226S → P in SPG2. 1 Publication1
Natural variantiVAR_004563237F → S in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630291EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

DisGeNETi5354
GeneReviewsiPLP1
MalaCardsiPLP1
MIMi312080 phenotype
312920 phenotype
OpenTargetsiENSG00000123560
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)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001590052 – 277Myelin proteolipid proteinAdd BLAST276

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi6S-palmitoyl cysteineBy similarity1
Lipidationi7S-palmitoyl cysteineBy similarity1
Lipidationi10S-palmitoyl cysteineBy similarity1
Lipidationi109S-palmitoyl cysteineBy similarity1
Modified residuei114PhosphoserineBy similarity1
Modified residuei116PhosphothreonineBy similarity1
Modified residuei118PhosphothreonineBy similarity1
Lipidationi139S-palmitoyl cysteineBy similarity1
Lipidationi141S-palmitoyl cysteineBy similarity1
Disulfide bondi184 ↔ 228By similarity
Lipidationi199O-palmitoyl serineBy similarity1
Disulfide bondi201 ↔ 220By similarity

Keywords - PTMi

Disulfide bond, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiP60201
PaxDbiP60201
PeptideAtlasiP60201
PRIDEiP60201
ProteomicsDBi57188
57189 [P60201-2]

2D gel databases

UCD-2DPAGEiP60201

PTM databases

iPTMnetiP60201
PhosphoSitePlusiP60201
SwissPalmiP60201

Expressioni

Gene expression databases

BgeeiENSG00000123560 Expressed in 214 organ(s), highest expression level in middle frontal gyrus
CleanExiHS_PLP1
ExpressionAtlasiP60201 baseline and differential
GenevisibleiP60201 HS

Organism-specific databases

HPAiHPA004128

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111368, 22 interactors
IntActiP60201, 64 interactors
MINTiP60201
STRINGi9606.ENSP00000305152

Structurei

3D structure databases

ProteinModelPortaliP60201
SMRiP60201
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

InterProiView protein in InterPro
IPR001614 Myelin_PLP
IPR018237 Myelin_PLP_CS
PANTHERiPTHR11683 PTHR11683, 1 hit
PfamiView protein in Pfam
PF01275 Myelin_PLP, 1 hit
PRINTSiPR00214 MYELINPLP
SMARTiView protein in SMART
SM00002 PLP, 1 hit
PROSITEiView protein in PROSITE
PS00575 MYELIN_PLP_1, 1 hit
PS01004 MYELIN_PLP_2, 1 hit

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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1B1G4B1B1G4_HUMAN
Myelin proteolipid protein
PLP1
127Annotation score:
B1B1G3B1B1G3_HUMAN
Myelin proteolipid protein
PLP1
122Annotation score:
B1B1G6B1B1G6_HUMAN
Myelin proteolipid protein
PLP1
136Annotation score:
B1B1G1B1B1G1_HUMAN
Myelin proteolipid protein
PLP1
100Annotation score:
B1B1G2B1B1G2_HUMAN
Myelin proteolipid protein
PLP1
111Annotation score:

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)DescriptionActionsGraphical viewLength
Sequence conflicti140H → T in AAA60117 (PubMed:15489334).Curated1
Sequence conflicti185Q → D in AAA59565 (PubMed:2479017).Curated1
Sequence conflicti213N → I in AAA59565 (PubMed:2479017).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00454615P → L in HLD1. 1 PublicationCorresponds to variant dbSNP:rs11543022EnsemblClinVar.1
Natural variantiVAR_07066730A → P in SPG2; partially retained in the endoplasmic reticulum; does not induce unfolded protein response. 1 Publication1
Natural variantiVAR_01501431L → P in HLD1. 1 Publication1
Natural variantiVAR_01501532F → L in HLD1. 1 Publication1
Natural variantiVAR_01501632F → V in HLD1. 1 Publication1
Natural variantiVAR_04690633C → Y in HLD1. 1 PublicationCorresponds to variant dbSNP:rs1064794255Ensembl.1
Natural variantiVAR_04690735C → R in HLD1. 1 Publication1
Natural variantiVAR_01501735C → Y in HLD1. 1 Publication1
Natural variantiVAR_01501839A → T in HLD1. 2 Publications1
Natural variantiVAR_00454743T → I in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630289EnsemblClinVar.1
Natural variantiVAR_01501946L → P in HLD1. 2 Publications1
Natural variantiVAR_01502046L → R in HLD1. 1 Publication1
Natural variantiVAR_04690850Y → C in HLD1. 1 Publication1
Natural variantiVAR_01502151F → S in HLD1. 1 Publication1
Natural variantiVAR_01502260Y → C in HLD1. 1 Publication1
Natural variantiVAR_00454874G → R in HLD1. 3 PublicationsCorresponds to variant dbSNP:rs132630285EnsemblClinVar.1
Natural variantiVAR_04690976A → P in HLD1. 1 Publication1
Natural variantiVAR_015023116T → K in HLD1. 1 Publication1
Natural variantiVAR_004550117 – 165Missing in HLD1. Add BLAST49
Natural variantiVAR_015024130H → Y in SPG2. 1 PublicationCorresponds to variant dbSNP:rs878853076EnsemblClinVar.1
Natural variantiVAR_046910137R → W in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630295EnsemblClinVar.1
Natural variantiVAR_004551140H → Y in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630287EnsemblClinVar.1
Natural variantiVAR_015025148H → Y in HLD1 and SPG2. 2 Publications1
Natural variantiVAR_015026151K → N in HLD1. 1 Publication1
Natural variantiVAR_004552156T → I in HLD1. 2 PublicationsCorresponds to variant dbSNP:rs132630280EnsemblClinVar.1
Natural variantiVAR_046911162V → E in HLD1. 1 Publication1
Natural variantiVAR_004553163W → R in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630279EnsemblClinVar.1
Natural variantiVAR_004554166V → E in HLD1. 1 Publication1
Natural variantiVAR_015027166V → G Probable disease-associated mutation found in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. 1 Publication1
Natural variantiVAR_015028169C → R in HLD1. 1 Publication1
Natural variantiVAR_015029170S → F in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630294EnsemblClinVar.1
Natural variantiVAR_046912170S → P in HLD1. 1 Publication1
Natural variantiVAR_015030172V → A in HLD1. 1 Publication1
Natural variantiVAR_046913173P → S in HLD1. 1 Publication1
Natural variantiVAR_015031175Y → C in HLD1. 1 Publication1
Natural variantiVAR_015032181W → C in HLD1. 2 Publications1
Natural variantiVAR_004555182T → P in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630282EnsemblClinVar.1
Natural variantiVAR_015033183T → N in HLD1. 1 Publication1
Natural variantiVAR_004556187I → T in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630288EnsemblClinVar.1
Natural variantiVAR_015034203D → E in HLD1. 2 Publications1
Natural variantiVAR_015035203D → G in HLD1. 1 Publication1
Natural variantiVAR_004557203D → H in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630284EnsemblClinVar.1
Natural variantiVAR_015036203D → N in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630284EnsemblClinVar.1
Natural variantiVAR_007956203D → V in HLD1. 1 Publication1
Natural variantiVAR_015037205R → G in HLD1. 1 Publication1
Natural variantiVAR_015038207Y → C in HLD1. 1 Publication1
Natural variantiVAR_015039209V → D in HLD1. 2 Publications1
Natural variantiVAR_015040210L → H in HLD1. 1 Publication1
Natural variantiVAR_015041211P → L in HLD1. 2 Publications1
Natural variantiVAR_015042212W → R in HLD1. 2 Publications1
Natural variantiVAR_015043216P → A in HLD1. 1 Publication1
Natural variantiVAR_046914216P → L in SPG2. 1 Publication1
Natural variantiVAR_004558216P → S in HLD1. 2 PublicationsCorresponds to variant dbSNP:rs132630278EnsemblClinVar.1
Natural variantiVAR_004559217G → S in HLD1. 2 Publications1
Natural variantiVAR_004560219V → F in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630281EnsemblClinVar.1
Natural variantiVAR_015044220C → Y in HLD1. 1 Publication1
Natural variantiVAR_004561221G → C in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630286EnsemblClinVar.1
Natural variantiVAR_015045224L → I Probable disease-associated mutation found in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. 1 Publication1
Natural variantiVAR_004562224L → P in HLD1. 1 PublicationCorresponds to variant dbSNP:rs132630283EnsemblClinVar.1
Natural variantiVAR_046915225L → P in HLD1. 1 Publication1
Natural variantiVAR_015046226S → P in SPG2. 1 Publication1
Natural variantiVAR_015047228C → Y in HLD1. 1 PublicationCorresponds to variant dbSNP:rs398123466EnsemblClinVar.1
Natural variantiVAR_015048234Q → P in HLD1. 1 Publication1
Natural variantiVAR_004563237F → S in SPG2. 1 PublicationCorresponds to variant dbSNP:rs132630291EnsemblClinVar.1
Natural variantiVAR_046916239L → P in HLD1. 1 Publication1
Natural variantiVAR_015049242A → P in HLD1. 2 Publications1
Natural variantiVAR_046917243A → E in HLD1. 1 Publication1
Natural variantiVAR_046918243A → V in HLD1. 1 Publication1
Natural variantiVAR_046919246G → A in HLD1. 1 PublicationCorresponds to variant dbSNP:rs398123467EnsemblClinVar.1
Natural variantiVAR_015050246G → E in HLD1. 1 Publication1
Natural variantiVAR_046920247A → T in HLD1. 1 PublicationCorresponds to variant dbSNP:rs886043504EnsemblClinVar.1
Natural variantiVAR_015051248A → E in HLD1. 1 Publication1
Natural variantiVAR_004565249A → P in HLD1. 1 Publication1
Natural variantiVAR_015052253S → F in HLD1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003325117 – 151Missing in isoform DM-20. 3 PublicationsAdd BLAST35

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 No translation available.
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

Similar proteinsi

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 No translation available.
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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XPGX-ray2.60C45-53[»]
ProteinModelPortaliP60201
SMRiP60201
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111368, 22 interactors
IntActiP60201, 64 interactors
MINTiP60201
STRINGi9606.ENSP00000305152

PTM databases

iPTMnetiP60201
PhosphoSitePlusiP60201
SwissPalmiP60201

Polymorphism and mutation databases

BioMutaiPLP1
DMDMi41393531

2D gel databases

UCD-2DPAGEiP60201

Proteomic databases

EPDiP60201
PaxDbiP60201
PeptideAtlasiP60201
PRIDEiP60201
ProteomicsDBi57188
57189 [P60201-2]

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
DisGeNETi5354
EuPathDBiHostDB:ENSG00000123560.13
GeneCardsiPLP1
GeneReviewsiPLP1
HGNCiHGNC:9086 PLP1
HPAiHPA004128
MalaCardsiPLP1
MIMi300401 gene
312080 phenotype
312920 phenotype
neXtProtiNX_P60201
OpenTargetsiENSG00000123560
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
PROiPR:P60201
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123560 Expressed in 214 organ(s), highest expression level in middle frontal gyrus
CleanExiHS_PLP1
ExpressionAtlasiP60201 baseline and differential
GenevisibleiP60201 HS

Family and domain databases

InterProiView protein in InterPro
IPR001614 Myelin_PLP
IPR018237 Myelin_PLP_CS
PANTHERiPTHR11683 PTHR11683, 1 hit
PfamiView protein in Pfam
PF01275 Myelin_PLP, 1 hit
PRINTSiPR00214 MYELINPLP
SMARTiView protein in SMART
SM00002 PLP, 1 hit
PROSITEiView protein in PROSITE
PS00575 MYELIN_PLP_1, 1 hit
PS01004 MYELIN_PLP_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMYPR_HUMAN
AccessioniPrimary (citable) accession number: P60201
Secondary accession number(s): P04400
, P06905, Q502Y1, Q6FHZ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1988
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 153 of the entry and version 2 of the sequence. See 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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