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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 Pelizaeus-Merzbacher Disease and Spastic Paraplegia 2, X-Linked. Among its related pathways are Glial Cell Differentiation and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (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

Additional gene information for PLP1 Gene

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

Genomics for PLP1 Gene

GeneHancer (GH) Regulatory Elements for PLP1 Gene

Promoters and enhancers for PLP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI103776 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 550.8 +3.3 3270 1.4 PKNOX1 PRDM1 PLP1 RAB9B
GH0XI103655 Enhancer 1 Ensembl ENCODE 11.3 -116.0 -116032 4.2 NCOA3 SOX13 FOXA2 JUN MAX BRCA1 RFX5 ZFHX2 CTBP1 GATA3 MORF4L2-AS1 MORF4L2 TCEAL3 TCEAL1 TCEAL3-AS1 PLP1 BEX4 BEX2 RAB40A LOC100130176
GH0XI103793 Enhancer 0.8 Ensembl ENCODE dbSUPER 12.9 +20.1 20100 1.4 JUND CEBPB PLP1 TMEM31 RAB9B
GH0XI103698 Enhancer 0.7 dbSUPER 13.1 -74.6 -74609 0.8 SMARCE1 PKNOX1 ESRRA ZNF687 ZNF189 GATAD2B DPF2 FOXA1 ZNF217 CTBP1 PLP1 TMEM31 MORF4L2
GH0XI103828 Promoter/Enhancer 0.7 EPDnew ENCODE 11.7 +55.0 54990 1.2 RAB9B PLP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLP1 gene promoter:

Genomic Locations for PLP1 Gene

Genomic Locations for PLP1 Gene
chrX:103,773,718-103,792,619
(GRCh38/hg38)
Size:
18,902 bases
Orientation:
Plus strand
chrX:103,028,647-103,047,548
(GRCh37/hg19)

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:
    P60201-MYPR_HUMAN
    Recommended name:
    Myelin proteolipid protein
    Protein Accession:
    P60201
    Secondary Accessions:
    • P04400
    • P06905
    • Q502Y1
    • Q6FHZ6

    Protein attributes for PLP1 Gene

    Size:
    277 amino acids
    Molecular mass:
    30077 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Gene Families for PLP1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for PLP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P60201

UniProtKB/Swiss-Prot:

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

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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLP1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1
endosome 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLP1 Gene

Pathways & Interactions for PLP1 Gene

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

Pathways by source 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 IEA,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

(16) Drugs for PLP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) 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:

CRISPR Products

Inhibitory RNA 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: -
SP12:
SP13:

ExUns: 10b · 10c ^ 11a · 11b · 11c · 11d
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PLP1 Gene

GeneLoc Exon Structure for
PLP1
ECgene alternative splicing isoforms for
PLP1

Expression for PLP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

PLP1

SOURCE GeneReport for Unigene cluster for PLP1 Gene:

Hs.1787

Evidence on tissue expression from TISSUES for PLP1 Gene

  • Nervous system(5)
  • Kidney(4.9)
  • Skin(3.8)
  • Eye(3)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PLP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PLP1 34 33
  • 99.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLP1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLP1 33 34
  • 97.59 (n)
rat
(Rattus norvegicus)
Mammalia Plp1 33
  • 97.23 (n)
cow
(Bos Taurus)
Mammalia PLP1 34 33
  • 97.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plp1 33 16 34
  • 96.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLP1 34
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLP1 33 34
  • 84 (n)
lizard
(Anolis carolinensis)
Reptilia PLP1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plp1 33
  • 69.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398334 33
zebrafish
(Danio rerio)
Actinopterygii plp1a 34
  • 59 (a)
OneToMany
plp1b 34
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta M6 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PLP1 (if available)
TreeFam:
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 Variation AA Info Type
rs1060499653 pathogenic, Pelizaeus-Merzbacher disease 103,785,752(+) G/T coding_sequence_variant, stop_gained
rs1060500908 uncertain-significance, Spastic paraplegia 2 103,789,337(+) A/T coding_sequence_variant, missense_variant
rs1060500909 likely-pathogenic, Spastic paraplegia 2 103,785,717(+) T/C coding_sequence_variant, intron_variant, missense_variant
rs11543022 pathogenic, Pelizaeus-Merzbacher disease, Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] 103,785,621(+) C/G/T coding_sequence_variant, intron_variant, missense_variant
rs132630278 pathogenic, Pelizaeus-Merzbacher disease, not provided, Leukodystrophy, hypomyelinating, 1 (HLD1) [MIM:312080] 103,788,460(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for PLP1 Gene

Human Gene Mutation Database (HGMD)
PLP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLP1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search PLP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYPR_HUMAN
  • 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.

Additional Disease Information for PLP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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-Barrière C (Neurogenetics 2006) 3 22 44 58
  2. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PMID: 15712223) Hübner CA … Gal A (Human mutation 2005) 3 4 22 58
  3. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (PMID: 15450775) Lee ES … Hobson GM (Journal of the neurological sciences 2004) 3 4 22 58
  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 EA (International journal of molecular medicine 2002) 3 4 22 58
  5. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. (PMID: 11093273) Cailloux F … Boespflug-Tanguy O (European journal of human genetics : EJHG 2000) 3 4 22 58

Products for PLP1 Gene

  • Addgene plasmids for PLP1

Sources for PLP1 Gene

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