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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/20 19:44:33」(JST)
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Loricrin |
Identifiers |
Symbols |
LOR ; MGC111513 |
External IDs |
OMIM: 152445 MGI: 96816 HomoloGene: 68056 GeneCards: LOR Gene |
Gene ontology |
Molecular function |
• structural molecule activity
• structural constituent of cytoskeleton
• protein binding
• structural constituent of epidermis
• protein binding, bridging
|
Cellular component |
• cornified envelope
• nucleoplasm
• cytoplasm
• internal side of plasma membrane
|
Biological process |
• peptide cross-linking
• keratinocyte differentiation
• keratinization
|
Sources: Amigo / QuickGO |
|
RNA expression pattern |
|
More reference expression data |
Orthologs |
Species |
Human |
Mouse |
Entrez |
4014 |
16939 |
Ensembl |
ENSG00000203782 |
ENSMUSG00000043165 |
UniProt |
P23490 |
P18165 |
RefSeq (mRNA) |
NM_000427 |
NM_008508 |
RefSeq (protein) |
NP_000418 |
NP_032534 |
Location (UCSC) |
Chr 1:
153.23 – 153.23 Mb |
Chr 3:
92.08 – 92.08 Mb |
PubMed search |
[1] |
[2] |
|
Loricrin is a protein that in humans is encoded by the LOR gene.[1][2][3]
Contents
- 1 Function
- 2 Clinical significance
- 3 See also
- 4 References
- 5 Further reading
Function
Loricrin is a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells.[3]
Clinical significance
Mutations in the LOR gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.[3]
See also
- List of cutaneous conditions caused by mutations in keratins
References
- ^ Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM (May 1991). "Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins". J Biol Chem 266 (10): 6626–36. PMID 2007607.
- ^ Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW, Steinert PM (Oct 1992). "The human loricrin gene". J Biol Chem 267 (25): 18060–6. PMID 1355480.
- ^ a b c "Entrez Gene: LOR loricrin".
Further reading
- Ishida-Yamamoto A, Takahashi H, Iizuka H (1998). "Loricrin and human skin diseases: molecular basis of loricrin keratodermas.". Histol. Histopathol. 13 (3): 819–26. PMID 9690138.
- Ishida-Yamamoto A (2003). "Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.". J. Dermatol. Sci. 31 (1): 3–8. doi:10.1016/S0923-1811(02)00143-3. PMID 12615358.
- Candi E, Melino G, Mei G et al. (1995). "Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.". J. Biol. Chem. 270 (44): 26382–90. doi:10.1074/jbc.270.44.26382. PMID 7592852.
- Yoneda K, Steinert PM (1993). "Overexpression of human loricrin in transgenic mice produces a normal phenotype.". Proc. Natl. Acad. Sci. U.S.A. 90 (22): 10754–8. doi:10.1073/pnas.90.22.10754. PMC 47856. PMID 8248167.
- Ishida-Yamamoto A, Hohl D, Roop DR et al. (1994). "Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia.". Arch. Dermatol. Res. 285 (8): 491–8. doi:10.1007/BF00376822. PMID 8274037.
- Maestrini E, Monaco AP, McGrath JA et al. (1996). "A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.". Nat. Genet. 13 (1): 70–7. doi:10.1038/ng0596-70. PMID 8673107.
- Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.". J. Biol. Chem. 272 (3): 2021–30. doi:10.1074/jbc.272.3.2021. PMID 8999895.
- Ishida-Yamamoto A, McGrath JA, Lam H et al. (1997). "The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.". Am. J. Hum. Genet. 61 (3): 581–9. doi:10.1086/515518. PMC 1715943. PMID 9326323.
- Korge BP, Ishida-Yamamoto A, Pünter C et al. (1997). "Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.". J. Invest. Dermatol. 109 (4): 604–10. doi:10.1111/1523-1747.ep12337534. PMID 9326398.
- Candi E, Tarcsa E, Idler WW et al. (1999). "Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin.". J. Biol. Chem. 274 (11): 7226–37. doi:10.1074/jbc.274.11.7226. PMID 10066784.
- Richard G, Brown N, Smith LE et al. (2000). "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.". Hum. Genet. 106 (3): 321–9. doi:10.1007/s004390051045. PMID 10798362.
- Lee CH, Marekov LN, Kim S et al. (2000). "Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes.". FEBS Lett. 477 (3): 268–72. doi:10.1016/S0014-5793(00)01806-8. PMID 10908733.
- Candi E, Oddi S, Terrinoni A et al. (2001). "Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro.". J. Biol. Chem. 276 (37): 35014–23. doi:10.1074/jbc.M010157200. PMID 11443109.
- Matsumoto K, Muto M, Seki S et al. (2001). "Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.". Br. J. Dermatol. 145 (4): 657–60. doi:10.1046/j.1365-2133.2001.04412.x. PMID 11703298.
- O'Driscoll J, Muston GC, McGrath JA et al. (2002). "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.". Clin. Exp. Dermatol. 27 (3): 243–6. doi:10.1046/j.1365-2230.2002.01031.x. PMID 12072018.
- Jang SI, Steinert PM (2003). "Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families.". J. Biol. Chem. 277 (44): 42268–79. doi:10.1074/jbc.M205593200. PMID 12200429.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
English Journal
- Study of epithelial differentiation and protein expression of keratinocyte-mesenchyme stem cell co-cultivation on electrospun nylon/B. vulgaris extract composite scaffold.
- Hosseinzadeh S1, Soleimani M2, Vossoughi M3, Ranjbarvan P4, Hamedi S5, Zamanlui S6, Mahmoudifard M7.
- Materials science & engineering. C, Materials for biological applications.Mater Sci Eng C Mater Biol Appl.2017 Jun 1;75:653-662. doi: 10.1016/j.msec.2017.02.101. Epub 2017 Feb 22.
- PMID 28415512
- Embryonic AP1 Transcription Factor Deficiency Causes a Collodion Baby-Like Phenotype.
- Young CA1, Eckert RL2, Adhikary G1, Crumrine D3, Elias PM3, Blumenberg M4, Rorke EA5.
- The Journal of investigative dermatology.J Invest Dermatol.2017 May 16. pii: S0022-202X(17)31533-6. doi: 10.1016/j.jid.2017.04.032. [Epub ahead of print]
- PMID 28526300
- Development of a new model of reconstituted mouse epidermis and characterization of its response to proinflammatory cytokines.
- Pohin M1, Veaute C2, Garnier J3, Barrault C3, Cronier L4, Huguier V1,5, Favot L1, Mcheik J1,5, Bernard FX1,3, Lecron JC1,5, Morel F1, Jégou JF1.
- Journal of tissue engineering and regenerative medicine.J Tissue Eng Regen Med.2017 May 6. doi: 10.1002/term.2442. [Epub ahead of print]
- PMID 28477582
Japanese Journal
- リラナフタートによるヒト表皮細胞の Aryl Hydrocarbon Receptor を 介した抗炎症・抗酸化作用
- 高原 正和,竹井 賢二郎,八谷 顕子 [他],溝手 政博,村井 美華,佐々木 誉詩子,大野 文高,岡部 倫子,武 信肇,増田 亜希子,古江 増隆
- 西日本皮膚科 76(2), 121-126, 2014
- 白癬に対する外用治療薬であるリラナフタート (ゼフナート®) は,強い抗真菌作用に加えて抗炎症作用などを有することが知られている。本研究では,培養ヒト表皮細胞にリラナフタートを添加し,その機序を検討した。リラナフタートを添加すると,表皮細胞質内に存在していた aryl hydrocarbon receptor (AhR) は核内に移動した。加えて抗酸化転写因子である nuclear factor- …
- NAID 130004831872
- TRPV1 antagonist can suppress the atopic dermatitis-like symptoms by accelerating skin barrier recovery
- YUN Jun-Won,SEO Jung A.,JEONG Yeon Su,BAE Il-Hong,JANG Won-Hee,LEE Jihae,KIM Sun-Young,SHIN Song-Seok,WOO Byoung-Young,LEE Ki-Wha,LIM Kyung-Min,PARK Young-Ho
- Journal of dermatological science 62(1), 8-15, 2011-04-01
- NAID 10030890678
- Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes
- YONEDA Kozo,DEMITSU Toshio,MANABE Motomu,IGARASHI Junsuke,KOSAKA Hiroaki,INAGAKI Nobuya,TAKAHASHI Hidetoshi,KON Atsushi,KAKURAI Maki,KUBOTA Yasuo
- Journal of dermatology 37(11), 956-964, 2010-11-01
- NAID 10027572660
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