Human Gene PLP1 (uc004elk.3) Description and Page Index
  Description: Homo sapiens proteolipid protein 1 (PLP1), transcript variant 1, mRNA.
RefSeq Summary (NM_000533): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:103,031,754-103,047,547 Size: 15,794 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:103,031,924-103,045,526 Size: 13,603 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:103,031,754-103,047,547)mRNA (may differ from genome)Protein (277 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: MYPR_HUMAN
DESCRIPTION: RecName: Full=Myelin proteolipid protein; Short=PLP; AltName: Full=Lipophilin;
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.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DISEASE: Defects in PLP1 are the cause of leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]; also known as Pelizaeus-Merzbacher disease. HLD1 is an X-linked recessive dysmyelinating disorder of the central nervous system in which myelin is not formed properly. It is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay.
DISEASE: Defects in PLP1 are the cause of spastic paraplegia X- linked type 2 (SPG2) [MIM:312920]. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy.
SIMILARITY: Belongs to the myelin proteolipid protein family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLP1";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLP1
CDC HuGE Published Literature: PLP1
Positive Disease Associations: connatal Pelizaeus-Merzbacher disease
Related Studies:
  1. connatal Pelizaeus-Merzbacher disease
    Yamamoto T et al. 1999, A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease., Human mutation. 1999 Aug;14(2):182. [PubMed 10425042]
    1999

-  MalaCards Disease Associations
  MalaCards Gene Search: PLP1
Diseases sorted by gene-association score: spastic paraplegia 2, x-linked* (1690), pelizaeus-merzbacher disease* (1264), pelizaeus-merzbacher disease, connatal form* (350), pelizaeus-merzbacher disease, classic form* (350), null syndrome* (350), pelizaeus-merzbacher disease, transitional form* (350), pelizaeus-merzbacher disease in female carriers* (350), plp1-related disorders* (118), leukodystrophy (34), paraplegia (25), demyelinating disease (20), spastic quadriplegia (19), arena syndrome (18), primary progressive multiple sclerosis (17), binswanger's disease (13), allergic encephalomyelitis (13), optic neuritis (12), cerebral palsy (12), leukodystrophy, hypomyelinating, 5 (11), pelizaeus-merzbacher-like disease (11), quadriplegia (10), leukodystrophy, hypomyelinating, 4 (9), hereditary spastic paraplegia (9), niemann-pick disease, type a (9), multiple sclerosis, disease progression, modifier of (9), cerebral degeneration (8), metachromatic leukodystrophy (7), leukodystrophy, hypomyelinating, 2 (7), hypomyelinating leukoencephalopathy (7), hypomyelinating leukodystrophy (7), central nervous system disease (6), rhizomelic chondrodysplasia punctata, type 2 (6), spastic cerebral palsy (5), extratemporal epilepsy (5), substance abuse (5), mental retardation, x-linked syndromic, lubs type (4), hereditary neuropathies (4), rhizomelic chondrodysplasia punctata, type 1 (4), charcot-marie-tooth disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3201.86 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 8204.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.20170-0.236 Picture PostScript Text
3' UTR -561.992021-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001614 - Myelin_PLP
IPR018237 - Myelin_PLP_CS

Pfam Domains:
PF01275 - Myelin proteolipid protein (PLP or lipophilin)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2XPG
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P60201
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0019911 structural constituent of myelin sheath
GO:0042802 identical protein binding

Biological Process:
GO:0006954 inflammatory response
GO:0007229 integrin-mediated signaling pathway
GO:0007268 chemical synaptic transmission
GO:0008366 axon ensheathment
GO:0010001 glial cell differentiation
GO:0010628 positive regulation of gene expression
GO:0014002 astrocyte development
GO:0021762 substantia nigra development
GO:0022010 central nervous system myelination
GO:0042552 myelination
GO:0042759 long-chain fatty acid biosynthetic process
GO:0048469 cell maturation
GO:0061564 axon development

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  LF211675 - JP 2014500723-A/19178: Polycomb-Associated Non-Coding RNAs.
MA447252 - JP 2018138019-A/19178: Polycomb-Associated Non-Coding RNAs.
AK292728 - Homo sapiens cDNA FLJ77822 complete cds, highly similar to Homo sapiens proteolipid protein 1 (Pelizaeus-Merzbacher disease,spastic paraplegia 2, uncomplicated) (PLP1), mRNA.
LF385353 - JP 2014500723-A/192856: Polycomb-Associated Non-Coding RNAs.
LF382355 - JP 2014500723-A/189858: Polycomb-Associated Non-Coding RNAs.
BC002665 - Homo sapiens proteolipid protein 1, mRNA (cDNA clone MGC:3940 IMAGE:3606269), complete cds.
AK312340 - Homo sapiens cDNA, FLJ92659, highly similar to Homo sapiens proteolipid protein 1 (Pelizaeus-Merzbacher disease,spastic paraplegia 2, uncomplicated) (PLP1), mRNA.
AK128782 - Homo sapiens cDNA FLJ45458 fis, clone BRSTN2010107, highly similar to Myelin proteolipid protein.
AK295374 - Homo sapiens cDNA FLJ54326 complete cds, highly similar to Myelin proteolipid protein.
AK295388 - Homo sapiens cDNA FLJ54051 complete cds, highly similar to Myelin proteolipid protein.
M54927 - Human myelin proteolipid protein mRNA, complete cds.
JD046183 - Sequence 27207 from Patent EP1572962.
M27110 - Human proteolipid protein mRNA (PLP), complete cds.
JD042744 - Sequence 23768 from Patent EP1572962.
BC095452 - Homo sapiens proteolipid protein 1, mRNA (cDNA clone MGC:111218 IMAGE:30717624), complete cds.
LF382356 - JP 2014500723-A/189859: Polycomb-Associated Non-Coding RNAs.
AK309239 - Homo sapiens cDNA, FLJ99280.
KU178261 - Homo sapiens proteolipid protein 1 isoform 1 (PLP1) mRNA, partial cds.
KU178262 - Homo sapiens proteolipid protein 1 isoform 2 (PLP1) mRNA, partial cds.
AB384404 - Synthetic construct DNA, clone: pF1KSDB1496, Homo sapiens PLP1 gene for myelin proteolipid protein, complete cds, without stop codon, in Flexi system.
BT019601 - Homo sapiens proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) mRNA, complete cds.
BT019602 - Homo sapiens proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) mRNA, complete cds.
KJ897346 - Synthetic construct Homo sapiens clone ccsbBroadEn_06740 PLP1 gene, encodes complete protein.
KR709923 - Synthetic construct Homo sapiens clone CCSBHm_00007788 PLP1 (PLP1) mRNA, encodes complete protein.
KR709924 - Synthetic construct Homo sapiens clone CCSBHm_00007807 PLP1 (PLP1) mRNA, encodes complete protein.
KR709925 - Synthetic construct Homo sapiens clone CCSBHm_00007812 PLP1 (PLP1) mRNA, encodes complete protein.
KR709926 - Synthetic construct Homo sapiens clone CCSBHm_00007860 PLP1 (PLP1) mRNA, encodes complete protein.
CR536542 - Homo sapiens full open reading frame cDNA clone RZPDo834G0620D for gene PLP1, proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); complete cds, incl. stopcodon.
M17085 - Human CNS myelin major proteolipid component (DM-20) mRNA, complete cds.
AK308966 - Homo sapiens cDNA, FLJ99007.
JD074500 - Sequence 55524 from Patent EP1572962.
JD272590 - Sequence 253614 from Patent EP1572962.
JD503333 - Sequence 484357 from Patent EP1572962.
JD259977 - Sequence 241001 from Patent EP1572962.
JD167497 - Sequence 148521 from Patent EP1572962.
JD560040 - Sequence 541064 from Patent EP1572962.
JD552407 - Sequence 533431 from Patent EP1572962.
JD300827 - Sequence 281851 from Patent EP1572962.
JD450382 - Sequence 431406 from Patent EP1572962.
JD532965 - Sequence 513989 from Patent EP1572962.
JD087760 - Sequence 68784 from Patent EP1572962.
JD527273 - Sequence 508297 from Patent EP1572962.
JD067293 - Sequence 48317 from Patent EP1572962.
JD166665 - Sequence 147689 from Patent EP1572962.
JD343169 - Sequence 324193 from Patent EP1572962.
JD234916 - Sequence 215940 from Patent EP1572962.
JD546688 - Sequence 527712 from Patent EP1572962.
JD377137 - Sequence 358161 from Patent EP1572962.
JD283500 - Sequence 264524 from Patent EP1572962.
JD232080 - Sequence 213104 from Patent EP1572962.
JD265786 - Sequence 246810 from Patent EP1572962.
JD239219 - Sequence 220243 from Patent EP1572962.
JD060538 - Sequence 41562 from Patent EP1572962.
JD477278 - Sequence 458302 from Patent EP1572962.
JD492928 - Sequence 473952 from Patent EP1572962.
JD549571 - Sequence 530595 from Patent EP1572962.
JD094179 - Sequence 75203 from Patent EP1572962.
JD237188 - Sequence 218212 from Patent EP1572962.
JD490966 - Sequence 471990 from Patent EP1572962.
JD036999 - Sequence 18023 from Patent EP1572962.
JD413018 - Sequence 394042 from Patent EP1572962.
JD298521 - Sequence 279545 from Patent EP1572962.
MA620930 - JP 2018138019-A/192856: Polycomb-Associated Non-Coding RNAs.
MA617932 - JP 2018138019-A/189858: Polycomb-Associated Non-Coding RNAs.
MA617933 - JP 2018138019-A/189859: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: MYPR_HUMAN, NM_000533, NP_001122306, P04400, P06905, P60201, PLP, Q502Y1, Q6FHZ6
UCSC ID: uc004elk.3
RefSeq Accession: NM_000533
Protein: P60201 (aka MYPR_HUMAN)
CCDS: CCDS14513.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PLP1:
dystonia-ov (Hereditary Dystonia Overview)
hsp (Hereditary Spastic Paraplegia Overview)
pmd (PLP1 Disorders)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000533.3
exon count: 7CDS single in 3' UTR: no RNA size: 3038
ORF size: 834CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1868.00frame shift in genome: no % Coverage: 99.57
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 27# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.