{{Short description|Type of myelin-associated protein}} {{Infobox_gene}} '''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.<ref>{{cite web | title = Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=5354}}</ref>
In melanocytic cells PLP1 gene expression may be regulated by MITF.<ref name="pmid19067971">{{cite journal |vauthors=Hoek KS, Schlegel NC, Eichhoff OM, etal | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x | doi-access = free }}</ref>
==Interactions== Proteolipid protein 1 has been shown to interact with Myelin basic protein.<ref name=pmid6083474>{{cite journal |last=Wood |first=D D |author2=Vella G J |author3=Moscarello M A |date=Oct 1984 |title=Interaction between human myelin basic protein and lipophilin |journal=Neurochem. Res. |volume=9 |issue=10 |pages=1523–31 |location = UNITED STATES| issn = 0364-3190| pmid = 6083474 |doi=10.1007/BF00964678 |s2cid=9751765 }}</ref><ref name=pmid2467009>{{cite journal |last=Edwards |first=A M |author2=Ross N W |author3=Ulmer J B |author4=Braun P E |date=Jan 1989 |title=Interaction of myelin basic protein and proteolipid protein |journal=J. Neurosci. Res. |volume=22 |issue=1 |pages=97–102 |location = UNITED STATES| issn = 0360-4012| pmid = 2467009 |doi = 10.1002/jnr.490220113 |s2cid=33666906 }}</ref>
==See also== * PLP2
==References== {{reflist}}
==Further reading== {{refbegin | 2}} *{{cite journal |vauthors=Woodward K, Malcolm S |title=Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. |journal=Trends Genet. |volume=15 |issue= 4 |pages= 125–8 |year= 1999 |pmid= 10203813 |doi=10.1016/S0168-9525(99)01716-3 }} *{{cite journal |vauthors=Garbern J, Cambi F, Shy M, Kamholz J |title=The molecular pathogenesis of Pelizaeus-Merzbacher disease. |journal=Arch. Neurol. |volume=56 |issue= 10 |pages= 1210–4 |year= 1999 |pmid= 10520936 |doi=10.1001/archneur.56.10.1210 |doi-access=free }} *{{cite journal |vauthors=Yool DA, Edgar JM, Montague P, Malcolm S |title=The proteolipid protein gene and myelin disorders in man and animal models. |journal=Hum. Mol. Genet. |volume=9 |issue= 6 |pages= 987–92 |year= 2000 |pmid= 10767322 |doi=10.1093/hmg/9.6.987 |doi-access=free }} *{{cite journal | author=Hudson LD |title=Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. | url=https://zenodo.org/record/1235582 |journal=J. Child Neurol. |volume=18 |issue= 9 |pages= 616–24 |year= 2003 |pmid= 14572140 |doi=10.1177/08830738030180090801 |s2cid=38917872 }} *{{cite journal | author=Inoue K |title=PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. |journal=Neurogenetics |volume=6 |issue= 1 |pages= 1–16 |year= 2005 |pmid= 15627202 |doi= 10.1007/s10048-004-0207-y |s2cid=32631043 }} *{{cite journal |vauthors=Doll R, Natowicz MR, Schiffmann R, Smith FI |title=Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease |journal=Am. J. Hum. Genet. |volume=51 |issue= 1 |pages= 161–9 |year= 1992 |pmid= 1376966 | pmc=1682866 }} *{{cite journal |vauthors=Strautnieks S, Rutland P, Winter RM, etal |title=Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis |journal=Am. J. Hum. Genet. |volume=51 |issue= 4 |pages= 871–8 |year= 1992 |pmid= 1384324 | pmc=1682779 }} *{{cite journal |vauthors=Pratt VM, Trofatter JA, Schinzel A, etal |title=A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease |journal=Am. J. Med. Genet. |volume=38 |issue= 1 |pages= 136–9 |year= 1991 |pmid= 1707231 |doi= 10.1002/ajmg.1320380129 }} *{{cite journal |vauthors=Weimbs T, Dick T, Stoffel W, Boltshauser E |title=A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis |journal=Biol. Chem. Hoppe-Seyler |volume=371 |issue= 12 |pages= 1175–83 |year= 1991 |pmid= 1708672 |doi= 10.1515/bchm3.1990.371.2.1175}} *{{cite journal |vauthors=Popot JL, Pham Dinh D, Dautigny A |title=Major Myelin proteolipid: the 4-alpha-helix topology |journal=J. Membr. Biol. |volume=120 |issue= 3 |pages= 233–46 |year= 1991 |pmid= 1711121 |doi=10.1007/BF01868534 |s2cid=24450880 }} *{{cite journal |vauthors=Pham-Dinh D, Popot JL, Boespflug-Tanguy O, etal |title=Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 17 |pages= 7562–6 |year= 1991 |pmid= 1715570 |doi=10.1073/pnas.88.17.7562 | pmc=52341 |bibcode=1991PNAS...88.7562P |doi-access=free }} *{{cite journal |vauthors=Simons R, Alon N, Riordan JR |title=Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence |journal=Biochem. Biophys. Res. Commun. |volume=146 |issue= 2 |pages= 666–71 |year= 1987 |pmid= 2441695 |doi=10.1016/0006-291X(87)90580-8 |bibcode=1987BBRC..146..666S }} *{{cite journal |vauthors=Kronquist KE, Crandall BF, Macklin WB, Campagnoni AT |title=Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA |journal=J. Neurosci. Res. |volume=18 |issue= 3 |pages= 395–401 |year= 1988 |pmid= 2449536 |doi= 10.1002/jnr.490180303 |s2cid=4367384 }} *{{cite journal |vauthors=Edwards AM, Ross NW, Ulmer JB, Braun PE |title=Interaction of myelin basic protein and proteolipid protein |journal=J. Neurosci. Res. |volume=22 |issue= 1 |pages= 97–102 |year= 1989 |pmid= 2467009 |doi= 10.1002/jnr.490220113 |s2cid=33666906 }} *{{cite journal |vauthors=Hudson LD, Puckett C, Berndt J, etal |title=Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 20 |pages= 8128–31 |year= 1989 |pmid= 2479017 |doi=10.1073/pnas.86.20.8128 | pmc=298228 |bibcode=1989PNAS...86.8128H |doi-access=free }} *{{cite journal |vauthors=Trofatter JA, Dlouhy SR, DeMyer W, etal |title=Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 23 |pages= 9427–30 |year= 1990 |pmid= 2480601 |doi=10.1073/pnas.86.23.9427 | pmc=298509 |bibcode=1989PNAS...86.9427T |doi-access=free }} *{{cite journal |vauthors=Gencic S, Abuelo D, Ambler M, Hudson LD |title=Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein |journal=Am. J. Hum. Genet. |volume=45 |issue= 3 |pages= 435–42 |year= 1989 |pmid= 2773936 | pmc=1683421 }} *{{cite journal |vauthors=Mattei MG, Alliel PM, Dautigny A, etal |title=The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome |journal=Hum. Genet. |volume=72 |issue= 4 |pages= 352–3 |year= 1986 |pmid= 3457761 |doi=10.1007/BF00290964 |s2cid=35833817 }} *{{cite journal |vauthors=Diehl HJ, Schaich M, Budzinski RM, Stoffel W |title=Individual exons encode the integral membrane domains of human myelin proteolipid protein |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 24 |pages= 9807–11 |year= 1987 |pmid= 3467339 |doi=10.1073/pnas.83.24.9807 | pmc=387231 |bibcode=1986PNAS...83.9807D |doi-access=free }} *{{cite journal |vauthors=Kahan I, Moscarello MA |title=The intramembranous domains of lipophilin in phosphatidylcholine vesicles are similar to those in the myelin membrane |journal=Biochim. Biophys. Acta |volume=862 |issue= 1 |pages= 223–6 |year= 1986 |pmid= 3768366 |doi=10.1016/0005-2736(86)90487-6 }} {{refend}}
==External links== * {{MeshName|PLP1+protein,+human}} *[https://www.ncbi.nlm.nih.gov/books/NBK1182/ GeneReview/NCBI/NIH/UW entry on PLP1-Related Disorders]
{{Cell membrane proteins}}
{{Protein-stub}}