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Aliases for PLP1 Gene

Aliases for PLP1 Gene

  • Proteolipid Protein 1 2 3 5
  • Lipophilin 3 4
  • PLP 3 4
  • Spastic Paraplegia 2, Uncomplicated 2
  • Major Myelin Proteolipid Protein 3
  • Pelizaeus-Merzbacher Disease 2
  • Myelin Proteolipid Protein 3
  • PLP/DM20 3
  • GPM6C 3
  • HLD1 3
  • MMPL 3
  • SPG2 3
  • PMD 3

External Ids for PLP1 Gene

Previous HGNC Symbols for PLP1 Gene

  • SPG2
  • PLP

Previous GeneCards Identifiers for PLP1 Gene

  • GC0XP098333
  • GC0XP099940
  • GC0XP101064
  • GC0XP101803
  • GC0XP102837
  • GC0XP102918
  • GC0XP103028
  • GC0XP092687

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, X-Linked and Pelizaeus-Merzbacher Disease. 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

Regulatory Elements for PLP1 Gene

Enhancers for PLP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF103793 0.9 Ensembl ENCODE 12.9 +20.1 20101 1.4 JUND CEBPB PLP1 TMEM31 RAB9B
GH0XF103740 1.2 ENCODE 12.7 -31.8 -31785 2.7 POLR2A POU5F1 TMEM31 PLP1 TCEAL8 TCEAL3 GLRA4
GH0XF103828 0.2 ENCODE 11.7 +55.0 54991 1.2 PLP1 RAB9B
GH0XF103664 0.2 Ensembl 11.3 -109.4 -109418 0.6 MORF4L2 MORF4L2-AS1 TCEAL3 TCEAL1 TCEAL3-AS1 PLP1 BEX4 LOC100130176
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PLP1 on UCSC Golden Path with GeneCards custom track

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

Genes around PLP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for PLP1 Gene

Protein Domains for PLP1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the myelin proteolipid protein family.
  • Belongs to the myelin proteolipid protein family.
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

Human Phenotype Ontology for PLP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLP1 Gene

MGI Knock Outs for PLP1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
endosome 1
extracellular 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PLP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 24103481
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with PLP1: view

Pathways & Interactions 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 chemical synaptic transmission TAS 2479017
GO:0008366 axon ensheathment TAS 2479017
GO:0010001 glial cell differentiation IEA --
genes like me logo Genes that share ontologies with PLP1: view

No data available for SIGNOR curated interactions for PLP1 Gene

Drugs & Compounds for PLP1 Gene

(15) Drugs for PLP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) Additional Compounds for PLP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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) (x17.4), Brain - Substantia nigra (x7.4), and Brain - Hippocampus (x5.4).

Protein differential expression in normal tissues from HIPED for PLP1 Gene

This gene is overexpressed in Spinal cord (46.2), Frontal cortex (15.3), and Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLP1 Gene

Protein tissue co-expression partners for PLP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLP1 Gene:


SOURCE GeneReport for Unigene cluster for PLP1 Gene:

genes like me logo Genes that share expression patterns with PLP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PLP1 Gene

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 34 35
  • 99.64 (n)
(Monodelphis domestica)
Mammalia PLP1 35
  • 99 (a)
(Canis familiaris)
Mammalia PLP1 34 35
  • 97.59 (n)
(Rattus norvegicus)
Mammalia Plp1 34
  • 97.23 (n)
(Bos Taurus)
Mammalia PLP1 34 35
  • 97.11 (n)
(Mus musculus)
Mammalia Plp1 34 16 35
  • 96.99 (n)
(Ornithorhynchus anatinus)
Mammalia PLP1 35
  • 94 (a)
(Gallus gallus)
Aves PLP1 34 35
  • 84 (n)
(Anolis carolinensis)
Reptilia PLP1 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plp1 34
  • 69.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398334 34
(Danio rerio)
Actinopterygii plp1a 35
  • 59 (a)
plp1b 35
  • 44 (a)
fruit fly
(Drosophila melanogaster)
Insecta M6 35
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
Species where no ortholog for PLP1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs11543022 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080], Pathogenic 103,785,621(+) GGCCC(C/G/T)CTTTG intron-variant, reference, missense
rs132630278 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080], Pathogenic 103,788,460(+) CTTTC(C/T)CTGGC reference, missense
rs132630279 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080], Pathogenic 103,787,831(+) TTGTG(C/T)GGCTC reference, missense
rs132630280 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080], Pathogenic 103,787,811(+) CATCA(C/T)CTATG reference, missense
rs132630281 Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080], Pathogenic 103,788,469(+) GCAAG(G/T)TTTGT reference, missense

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

Variant ID Type Subtype PubMed ID
esv7229 OTHER inversion 19470904

Variation tolerance for PLP1 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLP1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLP1 Gene

Disorders for PLP1 Gene

MalaCards: The human disease database

(39) MalaCards diseases for PLP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 2, x-linked
  • spastic paraplegia 2
pelizaeus-merzbacher disease
  • diffuse familial brain sclerosis
spastic paraplegia 2
  • spastic paraplegia 2, x-linked
pelizaeus-merzbacher disease, connatal form
  • connatal pmd
pelizaeus-merzbacher disease, classic form
  • classic pmd
- elite association - COSMIC cancer census association via MalaCards
Search PLP1 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for PLP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PLP1: view

No data available for Genatlas for PLP1 Gene

Publications for PLP1 Gene

  1. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. (PMID: 16416265) Combes P. … Vaurs-BarriA"re C. (Neurogenetics 2006) 3 22 46 64
  2. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID: 15712223) Huebner C.A. … Gal A. (Hum. Mutat. 2005) 3 4 22 64
  3. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (PMID: 15450775) Lee E.S. … Hobson G.M. (J. Neurol. Sci. 2004) 3 4 22 64
  4. 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. (PMID: 11786921) Seeman P. … Sistermans E.A. (Int. J. Mol. Med. 2002) 3 4 22 64
  5. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. (PMID: 11093273) Cailloux F. … Voit T. (Eur. J. Hum. Genet. 2000) 3 4 22 64

Products for PLP1 Gene

Sources for PLP1 Gene

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