プロテオリピドタンパク質
- 関
- PLP
WordNet
- any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"
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- 蛋白(たんばく)質
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2018/05/20 03:33:14」(JST)
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PLP1 |
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Available structures |
PDB |
Ortholog search: PDBe RCSB |
List of PDB id codes |
2XPG
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Identifiers |
Aliases |
PLP1, GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, proteolipid protein 1 |
External IDs |
OMIM: 300401 MGI: 97623 HomoloGene: 448 GeneCards: PLP1 |
Gene location (Human) |
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Chr. |
X chromosome (human)[1] |
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Band |
Xq22.2 |
Start |
103,773,718 bp[1] |
End |
103,792,619 bp[1] |
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Gene location (Mouse) |
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Chr. |
X chromosome (mouse)[2] |
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Band |
X F1|X 59.1 cM |
Start |
136,822,671 bp[2] |
End |
136,839,733 bp[2] |
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RNA expression pattern |
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More reference expression data |
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Gene ontology |
Molecular function |
• protein binding
• structural constituent of myelin sheath
• structural molecule activity
• identical protein binding
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Cellular component |
• integral component of membrane
• myelin
• plasma membrane
• membrane
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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
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Sources:Amigo / QuickGO |
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Orthologs |
Species |
Human |
Mouse |
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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NM_199478
NM_000533
NM_001128834
NM_001305004
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NM_011123
NM_001290561
NM_001290562
NM_001359117
NM_001359118
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NM_001359119
NM_001359120
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RefSeq (protein) |
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NP_000524
NP_001122306
NP_001291933
NP_955772
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NP_001277490
NP_001277491
NP_035253
NP_001346046
NP_001346047
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NP_001346048
NP_001346049
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Location (UCSC) |
Chr X: 103.77 – 103.79 Mb |
Chr X: 136.82 – 136.84 Mb |
PubMed search |
[3] |
[4] |
Wikidata |
View/Edit Human |
View/Edit Mouse |
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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.[5]
In melanocytic cells PLP1 gene expression may be regulated by MITF.[6]
Contents
- 1 Interactions
- 2 See also
- 3 References
- 4 Further reading
- 5 External links
Interactions
Proteolipid protein 1 has been shown to interact with Myelin basic protein.[7][8]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000123560 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031425 - Ensembl, May 2017
- ^ "Human PubMed Reference:".
- ^ "Mouse PubMed Reference:".
- ^ "Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)".
- ^ 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.
- ^ 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.
- ^ 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
- 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.
- 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.
- 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.
- 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. 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.
- 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.
- 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. 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. 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.
- 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. 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 US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReview/NCBI/NIH/UW entry on PLP1-Related Disorders
Protein: cell membrane proteins (other than Cell surface receptor, enzymes, and cytoskeleton)
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Arrestin |
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Membrane-spanning 4A |
- MS4A1
- MS4A2
- MS4A3
- MS4A4A
- MS4A4E
- MS4A5
- MS4A6A
- MS4A6E
- MS4A7
- MS4A8B
- MS4A9
- MS4A10
- MS4A12
- MS4A13
- MS4A14
- MS4A15
- MS4A18
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Myelin |
- Myelin basic protein
- Myelin proteolipid protein
- Myelin oligodendrocyte glycoprotein
- Myelin-associated glycoprotein
- Myelin protein zero
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Pulmonary surfactant |
- Pulmonary surfactant-associated protein B
- Pulmonary surfactant-associated protein C
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Tetraspanin |
- TSPAN1
- TSPAN2
- TSPAN3
- TSPAN4
- TSPAN5
- TSPAN6
- TSPAN7
- TSPAN8
- TSPAN9
- TSPAN10
- TSPAN11
- TSPAN12
- TSPAN13
- TSPAN14
- TSPAN15
- TSPAN16
- TSPAN17
- TSPAN18
- TSPAN19
- TSPAN20
- TSPAN21
- TSPAN22
- TSPAN23
- TSPAN24
- TSPAN25
- TSPAN26
- TSPAN27
- TSPAN28
- TSPAN29
- TSPAN30
- TSPAN31
- TSPAN32
- TSPAN33
- TSPAN34
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Other/ungrouped |
- Calnexin
- LDL-receptor-related protein-associated protein
- Neurofibromin 2
- Presenilin
- HFE
- Phospholipid transfer proteins
- Dysferlin
- STRC
- OTOF
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see also other cell membrane protein disorders
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UpToDate Contents
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English Journal
- Multiple sclerosis: Molecular mimicry of an antimyelin HLA class I restricted T-cell receptor.
- Rühl G1, Niedl AG1, Patronov A1, Siewert K1, Pinkert S1, Kalemanov M1, Friese MA1, Attfield KE1, Antes I1, Hohlfeld R1, Dornmair K1.
- Neurology® neuroimmunology & neuroinflammation.Neurol Neuroimmunol Neuroinflamm.2016 May 17;3(4):e241. doi: 10.1212/NXI.0000000000000241. eCollection 2016.
- OBJECTIVE: To identify target antigens presented by human leukocyte antigen (HLA)-A*02:01 to the myelin-reactive human T-cell receptor (TCR) 2D1, which was originally isolated from a CD8+ T-cell clone recognizing proteolipid protein (PLP) in the context of HLA-A*03:01, we employed a new antigen sear
- PMID 27231714
- Neuronatin is a stress-responsive protein of rod photoreceptors.
- Shinde V1, Pitale PM1, Howse W1, Gorbatyuk O1, Gorbatyuk M2.
- Neuroscience.Neuroscience.2016 Jul 22;328:1-8. doi: 10.1016/j.neuroscience.2016.04.023. Epub 2016 Apr 21.
- Neuronatin (NNAT) is a small transmembrane proteolipid that is highly expressed in the embryonic developing brain and several other peripheral tissues. This study is the first to provide evidence that NNAT is detected in the adult retina of various adult rod-dominant mammals, including wild-type (WT
- PMID 27109921
- Rab27b is Involved in Lysosomal Exocytosis and Proteolipid Protein Trafficking in Oligodendrocytes.
- Shen YT1, Gu Y1, Su WF1, Zhong JF2, Jin ZH1, Gu XS1, Chen G3.
- Neuroscience bulletin.Neurosci Bull.2016 Jun 21. [Epub ahead of print]
- Myelination by oligodendrocytes in the central nervous system requires coordinated exocytosis and endocytosis of the major myelin protein, proteolipid protein (PLP). Here, we demonstrated that a small GTPase, Rab27b, is involved in PLP trafficking in oligodendrocytes. We showed that PLP co-localized
- PMID 27325508
Japanese Journal
- Neurochemistry of Hypomyelination Investigated with MR Spectroscopy
- Neurochemistry of Hypomyelination Investigated with MR Spectroscopy
- An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
Related Links
- This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as ...
- This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin. ... Disease description A X-linked recessive disorder of the central ...
- Detect Proteolipid Protein using this Anti-Proteolipid Protein Antibody validated for use in IC, IH. - Find MSDS or SDS, a COA, data sheets and more information. ... Biological Information Immunogen Synthetic peptide corresponding ...
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