Entry - *170250 - LEUCINE AMINOPEPTIDASE 3; LAP3 - OMIM
 
* 170250

LEUCINE AMINOPEPTIDASE 3; LAP3


Alternative titles; symbols

PEPTIDASE S; PEPS


HGNC Approved Gene Symbol: LAP3

Cytogenetic location: 4p15.32     Genomic coordinates (GRCh38): 4:17,577,198-17,607,970 (from NCBI)


TEXT

Cloning and Expression

Matsushima et al. (1991) presented evidence that prolyl aminopeptidases (EC 3.4.11.5) purified from pig small intestine mucosa and human liver and leucyl aminopeptidase (EC 3.4.11.1) purified from pig kidney were identical. Both pig enzymes were indistinguishable in their molecular mass (about 300 kD), subunit composition (6 identical 55-kD subunits), chromatographic behavior, catalysis of synthetic N-terminal leucyl and prolyl peptides, pH dependence, susceptibility to proteinase inhibitors, and activation by manganese and magnesium.


Mapping

By somatic cell hybridization, Shows et al. (1978) assigned the gene for peptidase S to chromosome 4. Schmutz and Simpson (1983) measured leukocyte PEPS in 3 patients with Wolf-Hirschhorn syndrome (4p-) and in 50 controls. They also compared PEPS in 5 control fibroblast lines and 8 fibroblast lines with chromosome 4 aberrations including partial monosomies and partial trisomies. PEPS levels did not differ from controls in any. This experience permitted exclusion mapping of PEPS to 4p11-4q13; combined with previously reported data, the assignment becomes 4p11-4q12.


REFERENCES

  1. Brown, S., Lalley, P. A., Francke, U., Minna, J. D. Assignment of the locus for peptidase S (PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment to chromosome 19. Cytogenet. Cell Genet. 22: 167-171, 1978. [PubMed: 318156, related citations] [Full Text]

  2. Francke, U., Brown, S. Regional assignment of genes for phosphoglucomutase-2 and peptidase S to 4pter-4q21 in man. Cytogenet. Cell Genet. 22: 401-405, 1978. [PubMed: 752511, related citations] [Full Text]

  3. Lewis, W. H., Harris, H. Human red cell peptidases. Nature 215: 351-355, 1967. [PubMed: 6058286, related citations] [Full Text]

  4. Matsushima, M., Takahashi, T., Ichinose, M., Miki, K., Kurokawa, K., Takahashi, K. Structural and immunological evidence for the identity of prolyl aminopeptidase with leucyl aminopeptidase. Biochem. Biophys. Res. Commun. 178: 1459-1464, 1991. [PubMed: 1908238, related citations] [Full Text]

  5. Schmutz, S. M., Simpson, N. E. Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum. Genet. 64: 134-138, 1983. [PubMed: 6350155, related citations] [Full Text]

  6. Shows, T. B., Brown, J. A., Eddy, R. L., Byers, M. G., Haley, L. L., Cooper, E. S., Goggin, A. P. Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids. Hum. Genet. 43: 119-125, 1978. [PubMed: 689684, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 11/5/2004
Creation Date:
Victor A. McKusick : 6/2/1986
alopez : 07/27/2023
mgross : 11/09/2004
mgross : 11/9/2004
terry : 11/5/2004
carol : 11/12/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 10/18/1986

* 170250

LEUCINE AMINOPEPTIDASE 3; LAP3


Alternative titles; symbols

PEPTIDASE S; PEPS


HGNC Approved Gene Symbol: LAP3

Cytogenetic location: 4p15.32     Genomic coordinates (GRCh38): 4:17,577,198-17,607,970 (from NCBI)


TEXT

Cloning and Expression

Matsushima et al. (1991) presented evidence that prolyl aminopeptidases (EC 3.4.11.5) purified from pig small intestine mucosa and human liver and leucyl aminopeptidase (EC 3.4.11.1) purified from pig kidney were identical. Both pig enzymes were indistinguishable in their molecular mass (about 300 kD), subunit composition (6 identical 55-kD subunits), chromatographic behavior, catalysis of synthetic N-terminal leucyl and prolyl peptides, pH dependence, susceptibility to proteinase inhibitors, and activation by manganese and magnesium.


Mapping

By somatic cell hybridization, Shows et al. (1978) assigned the gene for peptidase S to chromosome 4. Schmutz and Simpson (1983) measured leukocyte PEPS in 3 patients with Wolf-Hirschhorn syndrome (4p-) and in 50 controls. They also compared PEPS in 5 control fibroblast lines and 8 fibroblast lines with chromosome 4 aberrations including partial monosomies and partial trisomies. PEPS levels did not differ from controls in any. This experience permitted exclusion mapping of PEPS to 4p11-4q13; combined with previously reported data, the assignment becomes 4p11-4q12.


See Also:

Brown et al. (1978); Francke and Brown (1978); Lewis and Harris (1967)

REFERENCES

  1. Brown, S., Lalley, P. A., Francke, U., Minna, J. D. Assignment of the locus for peptidase S (PEPS) to chromosome 4 in man and confirmation of peptidase D (PEPD) assignment to chromosome 19. Cytogenet. Cell Genet. 22: 167-171, 1978. [PubMed: 318156] [Full Text: https://doi.org/10.1159/000130928]

  2. Francke, U., Brown, S. Regional assignment of genes for phosphoglucomutase-2 and peptidase S to 4pter-4q21 in man. Cytogenet. Cell Genet. 22: 401-405, 1978. [PubMed: 752511] [Full Text: https://doi.org/10.1159/000130982]

  3. Lewis, W. H., Harris, H. Human red cell peptidases. Nature 215: 351-355, 1967. [PubMed: 6058286] [Full Text: https://doi.org/10.1038/215351a0]

  4. Matsushima, M., Takahashi, T., Ichinose, M., Miki, K., Kurokawa, K., Takahashi, K. Structural and immunological evidence for the identity of prolyl aminopeptidase with leucyl aminopeptidase. Biochem. Biophys. Res. Commun. 178: 1459-1464, 1991. [PubMed: 1908238] [Full Text: https://doi.org/10.1016/0006-291x(91)91057-j]

  5. Schmutz, S. M., Simpson, N. E. Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum. Genet. 64: 134-138, 1983. [PubMed: 6350155] [Full Text: https://doi.org/10.1007/BF00327109]

  6. Shows, T. B., Brown, J. A., Eddy, R. L., Byers, M. G., Haley, L. L., Cooper, E. S., Goggin, A. P. Assignment of peptidase S (PEPS) to chromosome 4 in man using somatic cell hybrids. Hum. Genet. 43: 119-125, 1978. [PubMed: 689684] [Full Text: https://doi.org/10.1007/BF00293588]


Contributors:
Patricia A. Hartz - updated : 11/5/2004

Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
alopez : 07/27/2023
mgross : 11/09/2004
mgross : 11/9/2004
terry : 11/5/2004
carol : 11/12/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 10/18/1986