Alternative titles; symbols
HGNC Approved Gene Symbol: LCP1
Cytogenetic location: 13q14.13 Genomic coordinates (GRCh38): 13:46,125,923-46,182,177 (from NCBI)
Lin et al. (1988) isolated partial cDNAs encoding L-plastin and T-plastin (PLS3; 300131) from a transformed human fibroblast cDNA library. Northern blot analysis revealed that L-plastin is expressed as a 3.7-kb mRNA in leukocytes, transformed fibroblasts, and a diverse array of human tumor cell lines.
Zu et al. (1990) reported that L-plastin is identical to p65, an interleukin-2 (IL2; 147680)-stimulated phosphoprotein found in human T cells. Zu et al. (1990) isolated p65 cDNAs from a human T-lymphocyte cDNA library. The predicted 627-amino acid p65 protein contains 2 EF-hand calcium-binding domains, a calmodulin-binding site, and 2 tandem repeats of an actin-binding domain.
Lin et al. (1993) reported that both the L-plastin and T-plastin genes contain 16 exons and span approximately 90 kb. Lin et al. (1997) found that the human and murine L-plastin promoters are highly homologous and function equally well in either human or murine leukocytes.
Kondo et al. (1985) assigned the LCP1 gene to 13q14.1-q14.2 by the deletion/dosage method. They studied a patient with trisomy 13 who had 1.5 times the normal amount of protein, a patient with retinoblastoma and deletion of 13q12.3-q21.2 who had half the normal amount of protein, and a patient with retinoblastoma and deletion of 13q14.1-q31.2 who had lost the father's allele and had half the normal amount of protein (Kondo et al., 1985). Close linkage to ESD (133280) was indicated by a maximum lod score of 4.221 at zero recombination. As part of an undertaking to map by genetic linkage human lymphocyte proteins that are genetically polymorphic in isoelectric point, Goldman et al. (1991) mapped the LCP1 gene to a site near the ESD locus on chromosome 13 by studies in 9 families from the CEPH collection. The proteins in the immortalized lymphocyte cell lines were analyzed by 2-dimensional electrophoresis. Murayama et al. (1993) demonstrated that L-plastin and LCP1 are identical and mapped the gene to 13q14.3.
The LAZ3 gene (BCL6; 109565) on 3q27 is nonrandomly disrupted in B-cell non-Hodgkin lymphoma by chromosomal translocations. Galiegue-Zouitina et al. (1999) identified the L-plastin gene as a novel LAZ3 partner in chimeric transcripts resulting from a t(3;13)(q27;q14) translocation in 2 cases of B-cell lymphoma. As a consequence of the translocation, the 5-prime regulatory region of each gene was exchanged, creating both LCP1-LAZ3 and reciprocal LAZ3-LCP1 fusion transcripts in one case, and only an LCP1-LAZ3 fusion transcript in the other.
Hamaguchi et al. (1982) described a genetic polymorphism of a major human LCP of molecular weight 64,000, detected in PHA-stimulated peripheral blood lymphocytes by high-resolution 2-dimensional electrophoresis (O'Farrell, 1975; Klose, 1975). Three different phenotypes determined by 2 common alleles at a single locus were found. In Japanese, the frequency of the 2 alleles was 0.936 and 0.064, respectively. The polypeptide was not detected in HeLa cells, fibroblasts, red cells, serum, or cerebrum. Traces were found in liver, kidney and skeletal muscle. (Hamaguchi et al. (1982) demonstrated polymorphism in 3 others of about 100 polypeptides. The 4 were all cytosolic and since they were separated by isoelectric focusing, they are all charge variants. The molecular weights of the 3 other polymorphic lymphocyte cytosol polypeptides were 40, 49, and 100 kD; see 174880. This stands in contrast to the restricted genetic variability in fibroblast polypeptides (Walton et al., 1979; McConkey et al., 1979; Giometti and Anderson, 1981).) Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
Chen et al. (2003) generated viable mice lacking Lpl. Lpl -/- mice showed no Lpl expression in polymorphonuclear neutrophils (PMNs) and macrophages and no aberrant expression of Pls1 (602734) or Pls3. Lpl -/- mice were deficient in control of Staphylococcus aureus infection in vivo and in vitro. Like Itgb2 (600065)-deficient PMNs, Lpl-deficient PMNs were defective in adhesion-dependent respiratory burst due to diminished Syk (600085) activation. However, unlike Itgb2-deficient PMNs, they were able to adhere and spread normally. Lpl -/- bone marrow-derived macrophages were deficient in adhesion-dependent secretion of Il1b (147720). Chen et al. (2003) concluded that plastin and Itgb2 interact in adhesion-dependent signaling.
Chen, H., Mocsai, A., Zhang, H., Ding, R.-X., Morisaki, J. H., White, M., Rothfork, J. M., Heiser, P., Colucci-Guyon, E., Lowell, C. A., Gresham, H. D., Allen, P. M., Brown, E. J. Role for plastin in host defense distinguishes integrin signaling from cell adhesion and spreading. Immunity 19: 95-104, 2003. [PubMed: 12871642] [Full Text: https://doi.org/10.1016/s1074-7613(03)00172-9]
Galiegue-Zouitina, S., Quief, S., Hildebrand, M.-P., Denis, C., Detourmignies, L., Lai, J.-L., Kerckaert, J.-P. Nonrandom fusion of L-plastin (LCP1) and LAZ3 (BCL6) genes by t(3;13)(q27;q14) chromosome translocation in two cases of B-cell non-Hodgkin lymphoma. Genes Chromosomes Cancer 26: 97-105, 1999. [PubMed: 10469447]
Giometti, C. S., Anderson, N. L. A variant of human nonmuscle tropomyosin found in fibroblasts by using two-dimensional electrophoresis. J. Biol. Chem. 256: 11840-11846, 1981. [PubMed: 7298633]
Goldman, D., O'Brien, S. J., Lucas-Derse, S., Dean, M. Linkage mapping of human polymorphic proteins identified by two-dimensional electrophoresis. Genomics 11: 875-884, 1991. [PubMed: 1686020] [Full Text: https://doi.org/10.1016/0888-7543(91)90010-c]
Haines, J. L. Error detected in published lod scores. Am. J. Hum. Genet. 39: 544 only, 1986. [PubMed: 17948566]
Hamaguchi, H., Ohta, A., Mukai, R., Yabe, T., Yamada, M. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 1. Detection of genetic variant polypeptides in PHA-stimulated peripheral blood lymphocyte. Hum. Genet. 59: 215-220, 1981. [PubMed: 7327584] [Full Text: https://doi.org/10.1007/BF00283667]
Hamaguchi, H., Yamada, M., Noguchi, A., Fujii, K., Shibasaki, M., Mukai, R., Yabe, T., Kondo, I. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide. Hum. Genet. 60: 176-180, 1982. [PubMed: 7076258] [Full Text: https://doi.org/10.1007/BF00569708]
Hamaguchi, H., Yamada, M., Shibasaki, M., Kondo, I. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100k polypeptide. Hum. Genet. 62: 148-151, 1982. [PubMed: 7160847] [Full Text: https://doi.org/10.1007/BF00282304]
Hamaguchi, H., Yamada, M., Shibasaki, M., Mukai, R., Yabe, T., Kondo, I. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes. Hum. Genet. 62: 142-147, 1982. [PubMed: 7160846] [Full Text: https://doi.org/10.1007/BF00282303]
Klose, J., Feller, M. Genetic variability of proteins from plasma membranes and cytosols of mouse organs. Biochem. Genet. 19: 859-870, 1981. [PubMed: 7332527] [Full Text: https://doi.org/10.1007/BF00504251]
Klose, J. Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissue: a novel approach to testing for induced point mutations in mammals. Humangenetik 26: 231-243, 1975. [PubMed: 1093965] [Full Text: https://doi.org/10.1007/BF00281458]
Kondo, I., Hamaguchi, H. Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D. Am. J. Hum. Genet. 37: 1106-1111, 1985. Note: Erratum: Am. J. Hum. Genet. 39: 544 only, 1986. [PubMed: 4083280]
Kondo, I., Hamaguchi, H. Study of the linkage relationship between LCP1 and ESD. (Abstract) Cytogenet. Cell Genet. 40: 672 only, 1985.
Kondo, I., Ikeuchi, T., Nishigaki, I., Takita, H., Fujiki, K., Takahashi, Y., Hamaguchi, H. Assignment of the gene for LCP1 on chromosome 13. (Abstract) Cytogenet. Cell Genet. 40: 673 only, 1985.
Kondo, I., Shin, K., Honmura, S., Nakajima, H., Yamamura, E., Satoh, H., Terauchi, M., Usuki, Y., Takita, H., Hamaguchi, H. A case report of a patient with retinoblastoma and chromosome 13q deletion: assignment of a new gene (gene for LCP1) on human chromosome 13. Hum. Genet. 71: 263-266, 1985. [PubMed: 3864729] [Full Text: https://doi.org/10.1007/BF00284588]
Lin, C.-S., Aebersold, R. H., Kent, S. B., Varma, M., Leavitt, J. Molecular cloning and characterization of plastin, a human leukocyte protein expressed in transformed human fibroblasts. Molec. Cell. Biol. 8: 4659-4668, 1988. [PubMed: 3211125] [Full Text: https://doi.org/10.1128/mcb.8.11.4659-4668.1988]
Lin, C.-S., Chang, C.-H., Huynh, T. The murine L-plastin gene promoter: identification and comparison with the human L-plastin gene promoter. DNA Cell Biol. 16: 9-16, 1997. [PubMed: 9022040] [Full Text: https://doi.org/10.1089/dna.1997.16.9]
Lin, C.-S., Park, T., Chen, Z. P., Leavitt, J. Human plastin genes: comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells. J. Biol. Chem. 268: 2781-2792, 1993. [PubMed: 8428952]
McConkey, E. H., Taylor, B. J., Phan, D. Human heterozygosity: a new estimate. Proc. Nat. Acad. Sci. 76: 6500-6504, 1979. [PubMed: 293737] [Full Text: https://doi.org/10.1073/pnas.76.12.6500]
Murayama, N., Tanaka, Y., Hanyu, M., Kobayashi, K., Hamaguchi, H., Kondo, I. Assignment of l-plastin to 13q14.3. (Abstract) Human Genome Mapping Workshop 93, Kobe, Japan 1993. P. 27.
O'Farrell, P. H. High resolution two-dimensional electrophoresis of proteins. J. Biol. Chem. 250: 4007-4021, 1975. [PubMed: 236308]
O'Farrell, P. Z., Goodman, H. M., O'Farrell, P. H. High resolution two-dimensional electrophoresis of basic as well as acidic proteins. Cell 12: 1133-1142, 1977. [PubMed: 23215] [Full Text: https://doi.org/10.1016/0092-8674(77)90176-3]
Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
Walton, K. E., Styer, D., Gruenstein, E. I. Genetic polymorphism in normal human fibroblasts as analyzed by two-dimensional polyacrylamide gel electrophoresis. J. Biol. Chem. 254: 7951-7960, 1979. [PubMed: 468800]
Zu, Y., Kohno, M., Kubota, I., Nishida, E., Hanaoka, M., Namba, Y. Characterization of interleukin 2 stimulated 65-kilodalton phosphoprotein in human T cells. Biochemistry 29: 1055-1062, 1990. [PubMed: 2111166] [Full Text: https://doi.org/10.1021/bi00456a030]
Zu, Y., Shigesada, K., Nishida, E., Kubota, I., Kohno, M., Hanaoka, M., Namba, Y. 65-kilodalton protein phosphorylated by interleukin 2 stimulation bears two putative actin-binding sites and two calcium-binding sites. Biochemistry 29: 8319-8324, 1990. [PubMed: 2252891] [Full Text: https://doi.org/10.1021/bi00488a017]