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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) Band Xq22.2 Start 103,773,718 bp End 103,792,619 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X F1|X 59.1 cM Start 135,723,420 bp End 135,740,482 bp
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
Wikidata
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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.

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.

In melanocytic cells PLP1 gene expression may be regulated by MITF.

Interactions

Proteolipid protein 1 has been shown to interact with Myelin basic protein.

See also

• PLP2

References

1. ^ GRCh38: Ensembl release 89: ENSG00000123560 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031425 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)".
6. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
7. Wood, D D; Vella G J; Moscarello M A (Oct 1984). "Interaction between human myelin basic protein and lipophilin". Neurochem. Res. 9 (10). UNITED STATES: 1523–31. doi:10.1007/BF00964678. ISSN 0364-3190. PMID 6083474. S2CID 9751765.
8. Edwards, A M; Ross N W; Ulmer J B; Braun P E (Jan 1989). "Interaction of myelin basic protein and proteolipid protein". J. Neurosci. Res. 22 (1). UNITED STATES: 97–102. doi:10.1002/jnr.490220113. ISSN 0360-4012. PMID 2467009. S2CID 33666906.

Further reading

• Woodward K, Malcolm S (1999). "Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice". Trends Genet. 15 (4): 125–8. doi:10.1016/S0168-9525(99)01716-3. PMID 10203813.
• Garbern J, Cambi F, Shy M, Kamholz J (1999). "The molecular pathogenesis of Pelizaeus-Merzbacher disease". Arch. Neurol. 56 (10): 1210–4. doi:10.1001/archneur.56.10.1210. PMID 10520936.
• Yool DA, Edgar JM, Montague P, Malcolm S (2000). "The proteolipid protein gene and myelin disorders in man and animal models". Hum. Mol. Genet. 9 (6): 987–92. doi:10.1093/hmg/9.6.987. PMID 10767322.
• Hudson LD (2003). "Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene". J. Child Neurol. 18 (9): 616–24. doi:10.1177/08830738030180090801. PMID 14572140. S2CID 38917872.
• Inoue K (2005). "PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2". Neurogenetics. 6 (1): 1–16. doi:10.1007/s10048-004-0207-y. PMID 15627202. S2CID 32631043.
• Doll R, Natowicz MR, Schiffmann R, Smith FI (1992). "Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease". Am. J. Hum. Genet. 51 (1): 161–9. PMC 1682866. PMID 1376966.
• Strautnieks S, Rutland P, Winter RM, et al. (1992). "Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis". Am. J. Hum. Genet. 51 (4): 871–8. PMC 1682779. PMID 1384324.
• Pratt VM, Trofatter JA, Schinzel A, et al. (1991). "A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease". Am. J. Med. Genet. 38 (1): 136–9. doi:10.1002/ajmg.1320380129. PMID 1707231.
• Weimbs T, Dick T, Stoffel W, Boltshauser E (1991). "A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis". Biol. Chem. Hoppe-Seyler. 371 (12): 1175–83. doi:10.1515/bchm3.1990.371.2.1175. PMID 1708672.
• Popot JL, Pham Dinh D, Dautigny A (1991). "Major Myelin proteolipid: the 4-alpha-helix topology". J. Membr. Biol. 120 (3): 233–46. doi:10.1007/BF01868534. PMID 1711121. S2CID 24450880.
• Pham-Dinh D, Popot JL, Boespflug-Tanguy O, et al. (1991). "Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid". Proc. Natl. Acad. Sci. U.S.A. 88 (17): 7562–6. Bibcode:1991PNAS...88.7562P. doi:10.1073/pnas.88.17.7562. PMC 52341. PMID 1715570.
• Simons R, Alon N, Riordan JR (1987). "Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence". Biochem. Biophys. Res. Commun. 146 (2): 666–71. doi:10.1016/0006-291X(87)90580-8. PMID 2441695.
• Kronquist KE, Crandall BF, Macklin WB, Campagnoni AT (1988). "Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA". J. Neurosci. Res. 18 (3): 395–401. doi:10.1002/jnr.490180303. PMID 2449536. S2CID 4367384.
• Edwards AM, Ross NW, Ulmer JB, Braun PE (1989). "Interaction of myelin basic protein and proteolipid protein". J. Neurosci. Res. 22 (1): 97–102. doi:10.1002/jnr.490220113. PMID 2467009. S2CID 33666906.
• Hudson LD, Puckett C, Berndt J, et al. (1989). "Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder". Proc. Natl. Acad. Sci. U.S.A. 86 (20): 8128–31. Bibcode:1989PNAS...86.8128H. doi:10.1073/pnas.86.20.8128. PMC 298228. PMID 2479017.
• Trofatter JA, Dlouhy SR, DeMyer W, et al. (1990). "Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant". Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9427–30. Bibcode:1989PNAS...86.9427T. doi:10.1073/pnas.86.23.9427. PMC 298509. PMID 2480601.
• Gencic S, Abuelo D, Ambler M, Hudson LD (1989). "Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein". Am. J. Hum. Genet. 45 (3): 435–42. PMC 1683421. PMID 2773936.
• Mattei MG, Alliel PM, Dautigny A, et al. (1986). "The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome". Hum. Genet. 72 (4): 352–3. doi:10.1007/BF00290964. PMID 3457761. S2CID 35833817.
• Diehl HJ, Schaich M, Budzinski RM, Stoffel W (1987). "Individual exons encode the integral membrane domains of human myelin proteolipid protein". Proc. Natl. Acad. Sci. U.S.A. 83 (24): 9807–11. Bibcode:1986PNAS...83.9807D. doi:10.1073/pnas.83.24.9807. PMC 387231. PMID 3467339.
• Kahan I, Moscarello MA (1986). "The intramembranous domains of lipophilin in phosphatidylcholine vesicles are similar to those in the myelin membrane". Biochim. Biophys. Acta. 862 (1): 223–6. doi:10.1016/0005-2736(86)90487-6. PMID 3768366.

External links

• PLP1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• GeneReview/NCBI/NIH/UW entry on PLP1-Related Disorders

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