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Aliases for PLP1 Gene

Aliases for PLP1 Gene

  • Proteolipid Protein 1 2 3
  • Lipophilin 3 4
  • HLD1 3 6
  • SPG2 3 6
  • PLP 3 4
  • PMD 3 6
  • Spastic Paraplegia 2, Uncomplicated 2
  • Major Myelin Proteolipid Protein 3
  • Pelizaeus-Merzbacher Disease 2
  • Myelin Proteolipid Protein 3
  • PLP/DM20 3
  • GPM6C 3
  • MMPL 3

External Ids for PLP1 Gene

Previous Symbols for PLP1 Gene

  • SPG2
  • PLP

Summaries for PLP1 Gene

Entrez Gene Summary for PLP1 Gene

  • This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]

GeneCards Summary for PLP1 Gene

PLP1 (Proteolipid Protein 1) is a Protein Coding gene. Diseases associated with PLP1 include spastic paraplegia 2 and spastic paraplegia 2, x-linked. Among its related pathways are SIDS Susceptibility Pathways and Glial Cell Differentiation. GO annotations related to this gene include structural molecule activity and structural constituent of myelin sheath. An important paralog of this gene is GPM6B.

UniProtKB/Swiss-Prot for PLP1 Gene

  • 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

Gene Wiki entry for PLP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLP1 Gene

Genomics for PLP1 Gene

Genomic Location for PLP1 Gene

103,773,718 bp from pter
103,792,619 bp from pter
18,902 bases
Plus strand

Genomic View for PLP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLP1 Gene

Regulatory Elements for PLP1 Gene

Proteins for PLP1 Gene

  • Protein details for PLP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Myelin proteolipid protein
    Protein Accession:
    Secondary Accessions:
    • P04400
    • P06905
    • Q502Y1
    • Q6FHZ6

    Protein attributes for PLP1 Gene

    277 amino acids
    Molecular mass:
    30077 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAA60350.1; Type=Miscellaneous discrepancy; Note=The submitted sequence only contains the last exon but the authors annotated a CDS including all exons of that gene.; Evidence={ECO:0000305}; Sequence=AAD13880.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLP1 Gene

    Alternative splice isoforms for PLP1 Gene


neXtProt entry for PLP1 Gene

Proteomics data for PLP1 Gene at MOPED

Post-translational modifications for PLP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLP1 Gene

Domains for PLP1 Gene

Protein Domains for PLP1 Gene



  • Belongs to the myelin proteolipid protein family.:
    • P60201
genes like me logo Genes that share domains with PLP1: view

No data available for Gene Families for PLP1 Gene

Function for PLP1 Gene

Molecular function for PLP1 Gene

GENATLAS Biochemistry: CNS myelin proteolipid protein (lipophilin),structural major protein expressed in myelin,also expressed in Schwann cell
UniProtKB/Swiss-Prot Function: 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

Gene Ontology (GO) - Molecular Function for PLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 2479017
GO:0005515 protein binding IPI 25416956
GO:0019911 structural constituent of myelin sheath IEA --
genes like me logo Genes that share ontologies with PLP1: view
genes like me logo Genes that share phenotypes with PLP1: view

Animal Models for PLP1 Gene

MGI Knock Outs for PLP1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PLP1 Gene

Localization for PLP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLP1 Gene

Cell membrane; Multi-pass membrane protein. Myelin membrane. Note=Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for PLP1 Gene COMPARTMENTS Subcellular localization image for PLP1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
extracellular 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 24103481
GO:0016021 integral component of membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with PLP1: view

Pathways for PLP1 Gene

genes like me logo Genes that share pathways with PLP1: view

Pathways by source for PLP1 Gene

2 BioSystems pathways for PLP1 Gene

Interacting Proteins for PLP1 Gene

Gene Ontology (GO) - Biological Process for PLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0007268 synaptic transmission TAS 2479017
GO:0008219 cell death --
GO:0008366 axon ensheathment TAS 2479017
genes like me logo Genes that share ontologies with PLP1: view

Compounds for PLP1 Gene

(32) Novoseek inferred chemical compound relationships for PLP1 Gene

Compound -log(P) Hits PubMed IDs
2,3-cyclic nucleotide 80.9 10
2-chloroethanol 54.8 2
n-acetylaspartate 43.3 3
zma 43.1 2
dimyristoylphosphatidylcholine 42.1 4
genes like me logo Genes that share compounds with PLP1: view

Transcripts for PLP1 Gene

Unigene Clusters for PLP1 Gene

Proteolipid protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - - - - - -
SP6: - - - - -
SP7: - -
SP8: - - - -
SP9: - - -
SP10: -
SP11: -

ExUns: 10b · 10c ^ 11a · 11b · 11c · 11d
SP1: -
SP2: -
SP4: -

Relevant External Links for PLP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLP1 Gene

mRNA expression in normal human tissues for PLP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLP1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (17.4), Brain - Substantia nigra (7.4), and Brain - Hippocampus (5.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PLP1 Gene

SOURCE GeneReport for Unigene cluster for PLP1 Gene Hs.1787

genes like me logo Genes that share expressions with PLP1: view

Orthologs for PLP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLP1 36
  • 99.64 (n)
  • 100 (a)
PLP1 37
  • 100 (a)
(Bos Taurus)
Mammalia PLP1 36
  • 97.11 (n)
  • 99.28 (a)
PLP1 37
  • 99 (a)
(Canis familiaris)
Mammalia PLP1 36
  • 97.59 (n)
  • 99.64 (a)
PLP1 37
  • 100 (a)
(Mus musculus)
Mammalia Plp1 36
  • 96.99 (n)
  • 100 (a)
Plp1 16
Plp1 37
  • 100 (a)
(Monodelphis domestica)
Mammalia PLP1 37
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia PLP1 37
  • 94 (a)
(Rattus norvegicus)
Mammalia Plp1 36
  • 97.23 (n)
  • 100 (a)
(Gallus gallus)
Aves PLP1 36
  • 84 (n)
  • 93.5 (a)
PLP1 37
  • 94 (a)
(Anolis carolinensis)
Reptilia PLP1 37
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398334 36
tropical clawed frog
(Silurana tropicalis)
Amphibia plp1 36
  • 69.93 (n)
  • 71.01 (a)
(Danio rerio)
Actinopterygii plp1a 37
  • 59 (a)
plp1b 37
  • 44 (a)
fruit fly
(Drosophila melanogaster)
Insecta M6 37
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
Species with no ortholog for PLP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLP1 Gene

Gene Tree for PLP1 (if available)
Gene Tree for PLP1 (if available)

Paralogs for PLP1 Gene

Paralogs for PLP1 Gene

Selected SIMAP similar genes for PLP1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PLP1: view

Variants for PLP1 Gene

Sequence variations from dbSNP and Humsavar for PLP1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
VAR_004546 Leukodystrophy, hypomyelinating, 1 (HLD1)
VAR_004547 Leukodystrophy, hypomyelinating, 1 (HLD1)
VAR_004548 Leukodystrophy, hypomyelinating, 1 (HLD1)
VAR_004551 Spastic paraplegia 2, X-linked (SPG2)
VAR_004552 Leukodystrophy, hypomyelinating, 1 (HLD1)

Structural Variations from Database of Genomic Variants (DGV) for PLP1 Gene

Variant ID Type Subtype PubMed ID
esv7229 OTHER Inversion 19470904

Relevant External Links for PLP1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

Disorders for PLP1 Gene

(2) OMIM Diseases for PLP1 Gene (300401)


  • 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. {ECO:0000269 PubMed:10417279, ECO:0000269 PubMed:10425042, ECO:0000269 PubMed:11093273, ECO:0000269 PubMed:11786921, ECO:0000269 PubMed:1376966, ECO:0000269 PubMed:1384324, ECO:0000269 PubMed:15712223, ECO:0000269 PubMed:1707231, ECO:0000269 PubMed:1708672, ECO:0000269 PubMed:1715570, ECO:0000269 PubMed:2479017, ECO:0000269 PubMed:2480601, ECO:0000269 PubMed:2773936, ECO:0000269 PubMed:7531827, ECO:0000269 PubMed:7539213, ECO:0000269 PubMed:7541731, ECO:0000269 PubMed:7573159, ECO:0000269 PubMed:7679906, ECO:0000269 PubMed:7683951, ECO:0000269 PubMed:7684886, ECO:0000269 PubMed:8037216, ECO:0000269 PubMed:8909455, ECO:0000269 PubMed:9008538, ECO:0000269 PubMed:9143933, ECO:0000269 PubMed:9482656, ECO:0000269 PubMed:9633722, ECO:0000269 PubMed:9747038, ECO:0000269 PubMed:9788732, ECO:0000269 PubMed:9894878, ECO:0000269 PubMed:9934976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10319897, ECO:0000269 PubMed:11093273, ECO:0000269 PubMed:15450775, ECO:0000269 PubMed:17438221, ECO:0000269 PubMed:24103481, ECO:0000269 PubMed:7522741, ECO:0000269 PubMed:8012387, ECO:0000269 PubMed:8780101, ECO:0000269 PubMed:8956049, ECO:0000269 PubMed:9489796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PLP1 Gene

(41) Novoseek inferred disease relationships for PLP1 Gene

Disease -log(P) Hits PubMed IDs
pelizaeus-merzbacher disease 98.6 119
spastic paraplegia 90.7 26
leukodystrophy 85.3 13
multiple sclerosis 80.8 56
encephalomyelitis 78.4 20

Relevant External Links for PLP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PLP1: view

Publications for PLP1 Gene

  1. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. (PMID: 1376966) Doll R. … Smith F.I. (Am. J. Hum. Genet. 1992) 3 4 23
  2. Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis. (PMID: 1384324) Strautnieks S. … Malcolm S. (Am. J. Hum. Genet. 1992) 3 4 23
  3. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. (PMID: 1707231) Pratt V.M. … Hodes M.E. (Am. J. Med. Genet. 1991) 3 4 23
  4. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene. (PMID: 7541731) Pratt V.M. … Hodes M.E. (Clin. Genet. 1995) 3 4 23
  5. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. (PMID: 7683951) Iwaki A. … Fukumaki Y. (Hum. Mol. Genet. 1993) 3 4 23

Products for PLP1 Gene

  • Addgene plasmids for PLP1

Sources for PLP1 Gene

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