Proteolipid protein 1

Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.

PLP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2XPG
Identifiers
Aliases	PLP1, GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, proteolipid protein 1
External IDs	OMIM: 300401; MGI: 97623; HomoloGene: 448; GeneCards: PLP1; OMA:PLP1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq22.2 Start 103,773,718 bp[1] End 103,792,619 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F1|X 59.1 cM Start 135,723,420 bp[2] End 135,740,482 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle frontal gyrus corpus callosum inferior ganglion of vagus nerve superior vestibular nucleus pons subthalamic nucleus ventral tegmental area spinal cord C1 segment pars reticulata Top expressed in globus pallidus deep cerebellar nuclei lateral geniculate nucleus ventral tegmental area pontine nuclei lateral hypothalamus dorsal tegmental nucleus medial vestibular nucleus medial geniculate nucleus nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural constituent of myelin sheath structural molecule activity identical protein binding Cellular component integral component of membrane myelin sheath plasma membrane membrane Biological process axon ensheathment integrin-mediated signaling pathway astrocyte development myelination axon development positive regulation of gene expression inflammatory response glial cell differentiation cell maturation long-chain fatty acid biosynthetic process substantia nigra development central nervous system myelination chemical synaptic transmission neuron projection development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5354 18823 Ensembl ENSG00000123560 ENSMUSG00000031425 UniProt P60201 P60202 RefSeq (mRNA) NM_199478 NM_000533 NM_001128834 NM_001305004 NM_011123 NM_001290561 NM_001290562 NM_001359117 NM_001359118 NM_001359119 NM_001359120 RefSeq (protein) NP_000524 NP_001122306 NP_001291933 NP_955772 NP_001277490 NP_035253 NP_001346046 NP_001346047 NP_001346048 NP_001346049 Location (UCSC) Chr X: 103.77 – 103.79 Mb Chr X: 135.72 – 135.74 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system (CNS). The encoded protein functions in myelination. This protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations associated with this gene cause X-linked Pelizaeus–Merzbacher disease and spastic paraplegia type 2. Two transcript variants encoding distinct isoforms have been identified for this gene.^[5]

In melanocytic cells PLP1 gene expression may be regulated by MITF.^[6]

Interactions

Proteolipid protein 1 has been shown to interact with Myelin basic protein.^[7][8]

See also

• PLP2