Version 5.4
Homo sapiens Gene: PLP1
Summary
InnateDB Gene IDBG-80835.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PLP1
Gene Name proteolipid protein 1
Synonyms GPM6C; HLD1; MMPL; PLP; PLP/DM20; PMD; SPG2
Species Homo sapiens
Ensembl Gene ENSG00000123560
Encoded Proteins
IDBP-378421
proteolipid protein 1
IDBP-378425
proteolipid protein 1
IDBP-378427
proteolipid protein 1
IDBP-378430
proteolipid protein 1
IDBP-378448
proteolipid protein 1
IDBP-808285
proteolipid protein 1
IDBP-808290
proteolipid protein 1
IDBP-808292
proteolipid protein 1
IDBP-808306
proteolipid protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5\' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:103773718-103792619
Strand Forward strand
Band q22.2
Transcripts
ENST00000434483 ENSP00000403335
ENST00000455268 ENSP00000409802
ENST00000422393 ENSP00000413931
ENST00000433491 ENSP00000393391
ENST00000443502 ENSP00000391853
ENST00000494475 ENSP00000480409
ENST00000464776
ENST00000465975
ENST00000480325
ENST00000485931
ENST00000495678
ENST00000479569
ENST00000485688
ENST00000478642
ENST00000461231
ENST00000476160
ENST00000466486
ENST00000494119
ENST00000496836
ENST00000621218 ENSP00000484450
ENST00000619236 ENSP00000477619
ENST00000619257
ENST00000612423 ENSP00000481006
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0019911 structural constituent of myelin sheath
Biological Process
GO:0006954 inflammatory response
GO:0007229 integrin-mediated signaling pathway
GO:0007268 synaptic transmission
GO:0008219 cell death
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:0016021 integral component of membrane
GO:0043209 myelin sheath
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031425
View Gene Order
ENSBTAG00000006977
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.1787
RefSeq NM_000533 NM_001128834 NM_199478
HUGO
OMIM
CCDS CCDS14513 CCDS14514
HPRD 02321
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca