Proteolipid protein 1: Difference between revisions

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{{Infobox_gene}}
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'''Proteolipid protein 1''' (PLP1) is a form of [[myelin proteolipid protein]] (PLP). [[Mutation]]s 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.
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
| HGNCid = 9086
| Symbol = PLP1
| AltSymbols =; MMPL; PLP; PLP/DM20; PMD; SPG2
| OMIM = 300401
| ECnumber = 
| Homologene = 448
| MGIid = 97623
| GeneAtlas_image1 = PBB_GE_PLP1_210198_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007268 |text = synaptic transmission}} {{GNF_GO|id=GO:0008366 |text = axon ensheathment}} {{GNF_GO|id=GO:0042759 |text = long-chain fatty acid biosynthetic process}} {{GNF_GO|id=GO:0048469 |text = cell maturation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5354
    | Hs_Ensembl = ENSG00000123560
    | Hs_RefseqProtein = NP_000524
    | Hs_RefseqmRNA = NM_000533
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 102918410
    | Hs_GenLoc_end = 102934201
    | Hs_Uniprot = P60201
    | Mm_EntrezGene = 18823
    | Mm_Ensembl = ENSMUSG00000031425
    | Mm_RefseqmRNA = NM_011123
    | Mm_RefseqProtein = NP_035253
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 132169200
    | Mm_GenLoc_end = 132184124
    | Mm_Uniprot = Q3UYM8
  }}
}}
'''Proteolipid protein 1''' is a protein associated with [[Pelizaeus-Merzbacher disease]].  It is a 4 transmembrane domain protein which binds strongly to 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.


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| section_title =  
| summary_text = This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. 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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5354| accessdate = }}</ref>
| summary_text = 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/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5354| accessdate = }}</ref>
 
In melanocytic cells PLP1 gene expression may be regulated by [[Microphthalmia-associated transcription factor|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 }}</ref>
}}
}}
==Interactions==
Proteolipid protein 1 has been shown to [[Protein-protein interaction|interact]] with [[Myelin basic protein]].<ref name=pmid6083474>{{cite journal |last=Wood |first=D D |authorlink= |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 |publisher= |location = UNITED STATES| issn = 0364-3190| pmid = 6083474 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1007/BF00964678 }}</ref><ref name=pmid2467009>{{cite journal |last=Edwards |first=A M |authorlink= |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 |publisher= |location = UNITED STATES| issn = 0360-4012| pmid = 2467009 |doi = 10.1002/jnr.490220113 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>


==See also==
==See also==
* [[Myelin]]
* [[PLP2]]


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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| citations =  
| citations =  
*{{cite journal  | author=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=  }}
*{{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  | author=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=  }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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 }}
*{{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. |journal=J. Child Neurol. |volume=18 |issue= 9 |pages= 616-24 |year= 2003 |pmid= 14572140 |doi=  }}
*{{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. |journal=J. Child Neurol. |volume=18 |issue= 9 |pages= 616–24 |year= 2003 |pmid= 14572140 |doi=10.1177/08830738030180090801 }}
*{{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 }}
*{{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 }}
*{{cite journal  | author=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 |doi=  }}
*{{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 |doi= | pmc=1682866 }}
*{{cite journal | author=Strautnieks S, Rutland P, Winter RM, ''et al.'' |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 |doi=  }}
*{{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 |doi= | pmc=1682779 }}
*{{cite journal | author=Pratt VM, Trofatter JA, Schinzel A, ''et al.'' |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=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  | author=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=  }}
*{{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  | author=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=  }}
*{{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 }}
*{{cite journal | author=Pham-Dinh D, Popot JL, Boespflug-Tanguy O, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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 }}
*{{cite journal  | author=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 }}
*{{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 }}
*{{cite journal  | author=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 }}
*{{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 }}
*{{cite journal | author=Hudson LD, Puckett C, Berndt J, ''et al.'' |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= }}
*{{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  }}
*{{cite journal | author=Trofatter JA, Dlouhy SR, DeMyer W, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal  | author=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 |doi=  }}
*{{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 |doi= | pmc=1683421 }}
*{{cite journal | author=Mattei MG, Alliel PM, Dautigny A, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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 }}
}}
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==External links==
==External links==
* {{MeshName|PLP1+protein,+human}}
* {{MeshName|PLP1+protein,+human}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pmd  GeneReview/NCBI/NIH/UW entry on PLP1-Related Disorders]
{{Cell membrane proteins}}
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Revision as of 15:33, 8 September 2017

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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.[1]

In melanocytic cells PLP1 gene expression may be regulated by MITF.[2]

Interactions

Proteolipid protein 1 has been shown to interact with Myelin basic protein.[3][4]

See also

References

  1. ↑ "Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)".
  2. ↑ 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.
  3. ↑ Wood, D D; Vella G J; Moscarello M A (Oct 1984). "Interaction between human myelin basic protein and lipophilin". Neurochem. Res. UNITED STATES. 9 (10): 1523–31. doi:10.1007/BF00964678. ISSN 0364-3190. PMID 6083474.
  4. ↑ 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. UNITED STATES. 22 (1): 97–102. doi:10.1002/jnr.490220113. ISSN 0360-4012. PMID 2467009.

Further reading

External links


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