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*604682
Table of Contents
Alternative titles; symbols
HGNC Approved Gene Symbol: ITGAE
Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38) : 17:3,714,628-3,801,188 (from NCBI)
Integrins are a family of cell surface adhesion molecules that play a major role in diverse cellular and developmental processes including morphogenesis, hemostasis, leukocyte activation, cellular adhesion, and homing. Each integrin consists of a pair of noncovalently associated alpha and beta chains. Integrin alpha-chain sequences are characterized by a 7-fold repeated amino acid motif, of which the last 3 or 4 contain divalent cation-binding sites. Immune responses at mucosal sites are mediated by lymphocytes associated with mammary glands and the gastrointestinal, genitourinary, and respiratory tracts. Among these mucosal lymphocytes are intraepithelial T lymphocytes (IELs). Cerf-Bensussan et al. (1987) determined that an integrin, termed HML-1 for human mucosal lymphocyte antigen-1, is found on more than 90% of intestinal IELs (iIELs) and on 45 to 50% of lamina propria T cells but on less than 2% of circulating peripheral blood T cells. Parker et al. (1992) showed that the beta subunit of HML-1 is integrin beta-7 (ITGB7; 147559).
By immunoaffinity column chromatography and SDS-PAGE, Shaw et al. (1994) purified the alpha chain of HML-1, which they designated alpha-E integrin for 'epithelial-associated.' Using degenerate PCR primers to screen an iIEL cDNA library treated with TGFB1 (190180), which is known to induce CD103 (ITGAE), Shaw et al. (1994) isolated an ITGAE cDNA, a 1,160-amino acid protein. ITGAE shares overall homology with other alpha integrins but has a unique 55-amino acid 'extra' region located just N-terminal to the I domain that contains 18 consecutive charged residues and a proteolytic cleavage site. The authors found that 14 of 25 cysteine residues are conserved between alpha-E and other alpha integrin chains, as are all 7 repeat regions and the GFFKR (gly-phe-phe-lys-arg) cytoplasmic sequence. There are 10 potential N-glycosylation sites. Western blot analysis showed that ITGAE is expressed as a 150-kD protein. Northern blot analysis revealed expression of a single ITGAE transcript of 4.5 kb in iIEL. Weak expression was detected in lung, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes. T-cell tumors expressed the 4.5-kb transcript as well as 2.3- and 1.3-kb transcripts.
Schon et al. (1999) showed that Itgae-deficient mice had an altered distribution of T lymphocytes within epithelia and the intestinal lamina propria, probably due to their loss of ability to bind to CDH1 (192090).
Touchman et al. (2000) mapped the ITGAE gene to chromosome 17p13 by inclusion within a BAC contig.
By SSCP analysis, Schon et al. (1999) mapped Itgae1 to mouse chromosome 11.
Cerf-Bensussan, N., Jarry, A., Brousse, N., Lisowska-Grospierre, B., Guy-Grand, D., Griscelli, C. A monoclonal antibody (HML-1) defining a novel membrane molecular present on human intestinal lymphocytes. Europ. J. Immun. 17: 1279-1285, 1987. [PubMed: 3498635, related citations] [Full Text]
Parker, C. M., Cepek, K. L, Russell, G. J., Shaw, S. K., Posnett, D. N., Schwarting, R., Brenner, M. B. A family of beta-7 integrins on human mucosal lymphocytes. Proc. Nat. Acad. Sci. 89: 1924-1928, 1992. [PubMed: 1542691, related citations] [Full Text]
Schon, M. P., Arya, A., Murphy, E. A., Adams, C. M., Strauch, U. G., Agace, W. W., Marsal, J., Donohue, J. P., Her, H., Beier, D. R., Olson, S., Lefrancois, L., Brenner, M. B., Grusby, M. J., Parker, C. M. Mucosal T lymphocyte numbers are selectively reduced in integrin alpha E (CD103)-deficient mice. J. Immun. 162: 6641-6649, 1999. [PubMed: 10352281, related citations]
Shaw, S. K., Cepek, K. L., Murphy, E. A., Russell, G. J., Brenner, M. B., Parker, C. M. Molecular cloning of the human mucosal lymphocyte integrin alpha E subunit: unusual structure and restricted RNA distribution. J. Biol. Chem. 269: 6016-6025, 1994. [PubMed: 8119947, related citations]
Touchman, J. W., Anikster, Y., Dietrich, N. L., Maduro, V. V. B., McDowell, G., Shotelersuk, V., Bouffard, G. G., Beckstrom-Sternberg, S. M., Gahl, W. A., Green, E. D. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 10: 165-173, 2000. [PubMed: 10673275, images, related citations] [Full Text]
Alternative titles; symbols
HGNC Approved Gene Symbol: ITGAE
Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38) : 17:3,714,628-3,801,188 (from NCBI)
Integrins are a family of cell surface adhesion molecules that play a major role in diverse cellular and developmental processes including morphogenesis, hemostasis, leukocyte activation, cellular adhesion, and homing. Each integrin consists of a pair of noncovalently associated alpha and beta chains. Integrin alpha-chain sequences are characterized by a 7-fold repeated amino acid motif, of which the last 3 or 4 contain divalent cation-binding sites. Immune responses at mucosal sites are mediated by lymphocytes associated with mammary glands and the gastrointestinal, genitourinary, and respiratory tracts. Among these mucosal lymphocytes are intraepithelial T lymphocytes (IELs). Cerf-Bensussan et al. (1987) determined that an integrin, termed HML-1 for human mucosal lymphocyte antigen-1, is found on more than 90% of intestinal IELs (iIELs) and on 45 to 50% of lamina propria T cells but on less than 2% of circulating peripheral blood T cells. Parker et al. (1992) showed that the beta subunit of HML-1 is integrin beta-7 (ITGB7; 147559).
By immunoaffinity column chromatography and SDS-PAGE, Shaw et al. (1994) purified the alpha chain of HML-1, which they designated alpha-E integrin for 'epithelial-associated.' Using degenerate PCR primers to screen an iIEL cDNA library treated with TGFB1 (190180), which is known to induce CD103 (ITGAE), Shaw et al. (1994) isolated an ITGAE cDNA, a 1,160-amino acid protein. ITGAE shares overall homology with other alpha integrins but has a unique 55-amino acid 'extra' region located just N-terminal to the I domain that contains 18 consecutive charged residues and a proteolytic cleavage site. The authors found that 14 of 25 cysteine residues are conserved between alpha-E and other alpha integrin chains, as are all 7 repeat regions and the GFFKR (gly-phe-phe-lys-arg) cytoplasmic sequence. There are 10 potential N-glycosylation sites. Western blot analysis showed that ITGAE is expressed as a 150-kD protein. Northern blot analysis revealed expression of a single ITGAE transcript of 4.5 kb in iIEL. Weak expression was detected in lung, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and peripheral blood leukocytes. T-cell tumors expressed the 4.5-kb transcript as well as 2.3- and 1.3-kb transcripts.
Schon et al. (1999) showed that Itgae-deficient mice had an altered distribution of T lymphocytes within epithelia and the intestinal lamina propria, probably due to their loss of ability to bind to CDH1 (192090).
Touchman et al. (2000) mapped the ITGAE gene to chromosome 17p13 by inclusion within a BAC contig.
By SSCP analysis, Schon et al. (1999) mapped Itgae1 to mouse chromosome 11.
Cerf-Bensussan, N., Jarry, A., Brousse, N., Lisowska-Grospierre, B., Guy-Grand, D., Griscelli, C. A monoclonal antibody (HML-1) defining a novel membrane molecular present on human intestinal lymphocytes. Europ. J. Immun. 17: 1279-1285, 1987. [PubMed: 3498635] [Full Text: https://doi.org/10.1002/eji.1830170910]
Parker, C. M., Cepek, K. L, Russell, G. J., Shaw, S. K., Posnett, D. N., Schwarting, R., Brenner, M. B. A family of beta-7 integrins on human mucosal lymphocytes. Proc. Nat. Acad. Sci. 89: 1924-1928, 1992. [PubMed: 1542691] [Full Text: https://doi.org/10.1073/pnas.89.5.1924]
Schon, M. P., Arya, A., Murphy, E. A., Adams, C. M., Strauch, U. G., Agace, W. W., Marsal, J., Donohue, J. P., Her, H., Beier, D. R., Olson, S., Lefrancois, L., Brenner, M. B., Grusby, M. J., Parker, C. M. Mucosal T lymphocyte numbers are selectively reduced in integrin alpha E (CD103)-deficient mice. J. Immun. 162: 6641-6649, 1999. [PubMed: 10352281]
Shaw, S. K., Cepek, K. L., Murphy, E. A., Russell, G. J., Brenner, M. B., Parker, C. M. Molecular cloning of the human mucosal lymphocyte integrin alpha E subunit: unusual structure and restricted RNA distribution. J. Biol. Chem. 269: 6016-6025, 1994. [PubMed: 8119947]
Touchman, J. W., Anikster, Y., Dietrich, N. L., Maduro, V. V. B., McDowell, G., Shotelersuk, V., Bouffard, G. G., Beckstrom-Sternberg, S. M., Gahl, W. A., Green, E. D. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 10: 165-173, 2000. [PubMed: 10673275] [Full Text: https://doi.org/10.1101/gr.10.2.165]
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