Human Gene PLP1 (ENST00000612423.4) from GENCODE V44
Description: Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA. (from RefSeq NM_001128834) RefSeq Summary (NM_001128834): 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]. Gencode Transcript: ENST00000612423.4 Gencode Gene: ENSG00000123560.14 Transcript (Including UTRs) Position: hg38 chrX:103,776,511-103,792,616 Size: 16,106 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chrX:103,776,996-103,790,598 Size: 13,603 Coding Exon Count: 7
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";
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.
ModBase Predicted Comparative 3D Structure on P60201
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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.
US Server
