Loricrin

LORICRIN
Identifiers
Aliases	LORICRIN , loricrin, LOR, loricrin cornified envelope precursor protein
External IDs	OMIM: 152445; GeneCards: LORICRIN; OMA:LORICRIN - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q21.3 Start 153,259,687 bp [1] End 153,262,124 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm skin of thigh nipple vulva human penis skin of hip skin of abdomen gums gingival epithelium amniotic fluid n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity structural constituent of cytoskeleton protein binding structural molecule activity structural constituent of skin epidermis Cellular component cytoplasm nucleoplasm nucleus cornified envelope cytosol Biological process peptide cross-linking keratinization keratinocyte differentiation cytoskeleton organization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4014 n/a Ensembl ENSG00000203782 n/a UniProt P23490 n/a RefSeq (mRNA) NM_000427 n/a RefSeq (protein) NP_000418 n/a Location (UCSC) Chr 1: 153.26 – 153.26 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Loricrin is a protein that in humans is encoded by the LOR gene. ^{[3] [4] [5]}

Function

Loricrin is a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. ^[5]

Loricrin is expressed in the granular layer of all keratinized epithelial cells of mammals tested including oral, esophageal and stomach mucosa of rodents, tracheal squamous metaplasia of vitamin A deficient hamster and estrogen induced squamous vaginal epithelium of rats. ^[6]

Clinical significance

Mutations in the LOR gene are associated with Vohwinkel's syndrome and Camisa disease, both inherited skin diseases.

See also

• List of cutaneous conditions caused by mutations in keratins

References

1. GRCh38: Ensembl release 89: ENSG00000203782 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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. doi: 10.1016/S0021-9258(18)38163-8 . PMID   2007607.
4. 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. doi: 10.1016/S0021-9258(19)37152-2 . PMID   1355480.
5. "Entrez Gene: LOR loricrin".
6. Hohl D, Ruf Olano B, de Viragh PA, Huber M, Detrisac CJ, Schnyder UW, Roop DR (1993). "Expression patterns of loricrin in various species and tissues". Differentiation. 54 (1): 25–34. doi:10.1111/j.1432-0436.1993.tb01585.x. PMID   8405772.

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. Bibcode:1993PNAS...9010754Y. 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. S2CID   9857068.
• 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. S2CID   9108586.
• 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 (inactive 12 July 2025). 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. Bibcode:2000FEBSL.477..268L. doi: 10.1016/S0014-5793(00)01806-8 . PMID   10908733. S2CID   12228606.
• 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. S2CID   32827034.
• 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. S2CID   44453747.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.