Entry - *602074 - DEATH-ASSOCIATED PROTEIN 3; DAP3 - OMIM
 
* 602074

DEATH-ASSOCIATED PROTEIN 3; DAP3


Alternative titles; symbols

MITOCHONDRIAL RIBOSOMAL PROTEIN S29; MRPS29


HGNC Approved Gene Symbol: DAP3

Cytogenetic location: 1q22     Genomic coordinates (GRCh38): 1:155,687,948-155,739,010 (from NCBI)


TEXT

Cloning and Expression

Kissil et al. (1995) cloned DAP3. DAP3 is transcribed into a 1.7-kb mRNA and encodes a 46-kD protein carrying a potential nucleotide-binding motif.

By proteolytic digestion of whole bovine 28S subunits, followed by peptide analysis and EST database analysis, Koc et al. (2001) identified full-length human DAP3, which they called MRPS29. The deduced 397-amino acid MRPS29 protein has a calculated molecular mass of 45.6 kD. Removal of a predicted 16-amino acid N-terminal mitochondrial localization signal results in a mature 43.6-kD protein. Koc et al. (2001) identified MRPS29 orthologs in mouse, Drosophila, C. elegans, and yeast, but not in E. coli. Mouse and human MRPS29 share 81.8% amino acid identity.


Gene Function

Kissil et al. (1995) found that DAP3 was involved in mediating interferon-gamma (147570)-induced cell death. Several lines of evidence suggested that suppression of cell death is a critical step in the multistage process of tumorigenesis. Kissil et al. (1995) concluded that DAP3, being a positive mediator of cell death, may be a tumor suppressor gene subject to loss or inactivation in tumors.


Mapping

Kissil and Kimchi (1997) mapped the DAP3 gene to chromosome 1q21 by fluorescence in situ hybridization. Verification of the assignment was achieved by identifying the gene in a YAC contig encompassing chromosome 1q21.1-q21.3.


Molecular Genetics

Hirota et al. (2004) found a strong association between bronchial asthma (600807) in adults and SNPs in the DAP3 gene (p = 0.0051; OR = 1.87; 95% CI = 1.20-2.92), but no association with childhood asthma. The tendency was more prominent in patients with high serum total immunoglobulin E (IgE; 147180). DAP3 was found to be expressed in normal bronchial epithelial cells, and that expression was induced by IFNG.


REFERENCES

  1. Hirota, T., Obara, K., Matsuda, A., Akahoshi, M., Nakashima, K., Hasegawa, K., Takahashi, N., Shimizu, M., Sekiguchi, H., Kokubo, M., Doi, S., Fujiwara, H., and 9 others. Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma. J. Hum. Genet. 49: 370-375, 2004. [PubMed: 15179560, related citations] [Full Text]

  2. Kissil, J. L., Deiss, L. P., Bayewitch, M., Raveh, T., Khaspekov, G., Kimchi, A. Isolation of DAP3, a novel mediator of interferon-gamma-induced cell death. J. Biol. Chem. 270: 27932-27936, 1995. [PubMed: 7499268, related citations] [Full Text]

  3. Kissil, J. L., Kimchi, A. Assignment of death associated protein 3 (DAP3) to human chromosome 1q21 by in situ hybridization. Cytogenet. Cell Genet. 77: 252 only, 1997. [PubMed: 9284927, related citations] [Full Text]

  4. Koc, E. C., Burkhart, W., Blackburn, K., Moseley, A., Spremulli, L. L. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. J. Biol. Chem. 276: 19363-19374, 2001. [PubMed: 11279123, related citations] [Full Text]


Patricia A. Hartz - updated : 04/23/2008
Victor A. McKusick - updated : 8/20/2004
Creation Date:
Victor A. McKusick : 10/22/1997
mgross : 04/23/2008
tkritzer : 8/23/2004
terry : 8/20/2004
psherman : 5/21/1999
jenny : 10/22/1997

* 602074

DEATH-ASSOCIATED PROTEIN 3; DAP3


Alternative titles; symbols

MITOCHONDRIAL RIBOSOMAL PROTEIN S29; MRPS29


HGNC Approved Gene Symbol: DAP3

Cytogenetic location: 1q22     Genomic coordinates (GRCh38): 1:155,687,948-155,739,010 (from NCBI)


TEXT

Cloning and Expression

Kissil et al. (1995) cloned DAP3. DAP3 is transcribed into a 1.7-kb mRNA and encodes a 46-kD protein carrying a potential nucleotide-binding motif.

By proteolytic digestion of whole bovine 28S subunits, followed by peptide analysis and EST database analysis, Koc et al. (2001) identified full-length human DAP3, which they called MRPS29. The deduced 397-amino acid MRPS29 protein has a calculated molecular mass of 45.6 kD. Removal of a predicted 16-amino acid N-terminal mitochondrial localization signal results in a mature 43.6-kD protein. Koc et al. (2001) identified MRPS29 orthologs in mouse, Drosophila, C. elegans, and yeast, but not in E. coli. Mouse and human MRPS29 share 81.8% amino acid identity.


Gene Function

Kissil et al. (1995) found that DAP3 was involved in mediating interferon-gamma (147570)-induced cell death. Several lines of evidence suggested that suppression of cell death is a critical step in the multistage process of tumorigenesis. Kissil et al. (1995) concluded that DAP3, being a positive mediator of cell death, may be a tumor suppressor gene subject to loss or inactivation in tumors.


Mapping

Kissil and Kimchi (1997) mapped the DAP3 gene to chromosome 1q21 by fluorescence in situ hybridization. Verification of the assignment was achieved by identifying the gene in a YAC contig encompassing chromosome 1q21.1-q21.3.


Molecular Genetics

Hirota et al. (2004) found a strong association between bronchial asthma (600807) in adults and SNPs in the DAP3 gene (p = 0.0051; OR = 1.87; 95% CI = 1.20-2.92), but no association with childhood asthma. The tendency was more prominent in patients with high serum total immunoglobulin E (IgE; 147180). DAP3 was found to be expressed in normal bronchial epithelial cells, and that expression was induced by IFNG.


REFERENCES

  1. Hirota, T., Obara, K., Matsuda, A., Akahoshi, M., Nakashima, K., Hasegawa, K., Takahashi, N., Shimizu, M., Sekiguchi, H., Kokubo, M., Doi, S., Fujiwara, H., and 9 others. Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma. J. Hum. Genet. 49: 370-375, 2004. [PubMed: 15179560] [Full Text: https://doi.org/10.1007/s10038-004-0161-4]

  2. Kissil, J. L., Deiss, L. P., Bayewitch, M., Raveh, T., Khaspekov, G., Kimchi, A. Isolation of DAP3, a novel mediator of interferon-gamma-induced cell death. J. Biol. Chem. 270: 27932-27936, 1995. [PubMed: 7499268] [Full Text: https://doi.org/10.1074/jbc.270.46.27932]

  3. Kissil, J. L., Kimchi, A. Assignment of death associated protein 3 (DAP3) to human chromosome 1q21 by in situ hybridization. Cytogenet. Cell Genet. 77: 252 only, 1997. [PubMed: 9284927] [Full Text: https://doi.org/10.1159/000134587]

  4. Koc, E. C., Burkhart, W., Blackburn, K., Moseley, A., Spremulli, L. L. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. J. Biol. Chem. 276: 19363-19374, 2001. [PubMed: 11279123] [Full Text: https://doi.org/10.1074/jbc.M100727200]


Contributors:
Patricia A. Hartz - updated : 04/23/2008
Victor A. McKusick - updated : 8/20/2004

Creation Date:
Victor A. McKusick : 10/22/1997

Edit History:
mgross : 04/23/2008
tkritzer : 8/23/2004
terry : 8/20/2004
psherman : 5/21/1999
jenny : 10/22/1997