Entry - *169900 - PEPTIDASE B; PEPB - OMIM

 
 
* 169900

PEPTIDASE B; PEPB


HGNC Approved Gene Symbol: PEPB

Cytogenetic location: 12q21     Genomic coordinates (GRCh38): 12:71,100,001-92,200,000


TEXT

▼ Cloning and Expression

Lewis et al. (1968) identified genetically variable peptidases determined by alleles at 2 separate and not closely linked structural loci, PEPA (169800) and PEPB (EC 3.4.11.4). The peptidases were present in red cells.

▼ Mapping

The peptidase B locus is linked to the LDHB (150100) locus (Ruddle et al., 1970) on chromosome 12 (Chen et al., 1973). Law and Kao (1978) summarized data suggesting the order 12pter--TPI (190450)--GAPD (138400)--SHMT (SHMT2; 138450). SHMT lies on the proximal part of 12q between the centromere and PEPB. Law and Kao (1979) further localized PEPB to 12q21.

Mouse Pep2, the homolog of human PEPB, is on chromosome 10 (Womack et al., 1986). Womack et al. (1986) found that Apk, an acid phosphatase locus expressed in mouse kidney, is also located on chromosome 10 and is linked to Pep2.


▼ Gene Function

Lewis et al. (1968) showed that PEPA and PEPB were capable of hydrolyzing di- and tripeptides.

▼ Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

▼ REFERENCES

  1. Blake, N. M., Kirk, R. L., Lewis, W. H. P., Harris, H. Some further peptidase B phenotypes. Ann. Hum. Genet. 33: 301-305, 1970. [PubMed: 5504228, related citations] [Full Text]

  2. Chen, T.-R., McMorris, F. A., Creagan, R., Ricciuti, F., Tischfield, J., Ruddle, F. H. Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. Am. J. Hum. Genet. 25: 200-207, 1973. [PubMed: 4689040, related citations]

  3. Herbschleb-Voogt, E., Monteba-van Heuvel, M., Wijnen, L. M. M., Westerveld, A., Pearson, P. L., Meera Khan, P. Chromosomal assignment and regional localization of CS, ENO-2, GAPDH, LDH-B, PEPB, and TPI in man-rodent cell hybrids. Cytogenet. Cell Genet. 22: 482-486, 1978. [PubMed: 318158, related citations] [Full Text]

  4. Law, M. L., Kao, F.-T. Regional assignment on human chromosome 12 of seven genes: TPI1, TPI2, GAPD, LDHB, ENO2, SHMT, and PEPB. (Abstract) Cytogenet. Cell Genet. 25: 179-180, 1979.

  5. Law, M. L., Kao, F.-T. Induced segregation of human syntenic genes by 5-bromodeoxyuridine plus near-visible light. Somat. Cell Genet. 4: 465-476, 1978. [PubMed: 684558, related citations] [Full Text]

  6. Lewis, W. H. P., Corney, G., Harris, H. Pep A5-1 and pep A6-1: two new variants of peptidase A with features of special interest. Ann. Hum. Genet. 32: 35-42, 1968.

  7. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  8. Ruddle, F. H., Chapman, V. M., Chen, T.-R., Klebe, R. J. Linkage between human lactate dehydrogenase A and B and peptidase B. Nature 227: 251-257, 1970. [PubMed: 5428191, related citations] [Full Text]

  9. Womack, J. E., Ashley, S., Barnett, L. B., Lewis, S. E. Linkage of Pep-2 and Apk on mouse chromosome 10. Biochem. Genet. 24: 721-727, 1986. [PubMed: 3535785, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
alopez : 11/07/2013
carol : 12/14/2009
warfield : 3/3/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
carol : 4/20/1989
marie : 3/25/1988

* 169900

PEPTIDASE B; PEPB


HGNC Approved Gene Symbol: PEPB

Cytogenetic location: 12q21     Genomic coordinates (GRCh38): 12:71,100,001-92,200,000


TEXT

Cloning and Expression

Lewis et al. (1968) identified genetically variable peptidases determined by alleles at 2 separate and not closely linked structural loci, PEPA (169800) and PEPB (EC 3.4.11.4). The peptidases were present in red cells.

Mapping

The peptidase B locus is linked to the LDHB (150100) locus (Ruddle et al., 1970) on chromosome 12 (Chen et al., 1973). Law and Kao (1978) summarized data suggesting the order 12pter--TPI (190450)--GAPD (138400)--SHMT (SHMT2; 138450). SHMT lies on the proximal part of 12q between the centromere and PEPB. Law and Kao (1979) further localized PEPB to 12q21.

Mouse Pep2, the homolog of human PEPB, is on chromosome 10 (Womack et al., 1986). Womack et al. (1986) found that Apk, an acid phosphatase locus expressed in mouse kidney, is also located on chromosome 10 and is linked to Pep2.


Gene Function

Lewis et al. (1968) showed that PEPA and PEPB were capable of hydrolyzing di- and tripeptides.

Molecular Genetics

Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).

See Also:

Blake et al. (1970); Herbschleb-Voogt et al. (1978)

REFERENCES

  1. Blake, N. M., Kirk, R. L., Lewis, W. H. P., Harris, H. Some further peptidase B phenotypes. Ann. Hum. Genet. 33: 301-305, 1970. [PubMed: 5504228] [Full Text: https://doi.org/10.1111/j.1469-1809.1970.tb01654.x]

  2. Chen, T.-R., McMorris, F. A., Creagan, R., Ricciuti, F., Tischfield, J., Ruddle, F. H. Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. Am. J. Hum. Genet. 25: 200-207, 1973. [PubMed: 4689040]

  3. Herbschleb-Voogt, E., Monteba-van Heuvel, M., Wijnen, L. M. M., Westerveld, A., Pearson, P. L., Meera Khan, P. Chromosomal assignment and regional localization of CS, ENO-2, GAPDH, LDH-B, PEPB, and TPI in man-rodent cell hybrids. Cytogenet. Cell Genet. 22: 482-486, 1978. [PubMed: 318158] [Full Text: https://doi.org/10.1159/000131003]

  4. Law, M. L., Kao, F.-T. Regional assignment on human chromosome 12 of seven genes: TPI1, TPI2, GAPD, LDHB, ENO2, SHMT, and PEPB. (Abstract) Cytogenet. Cell Genet. 25: 179-180, 1979.

  5. Law, M. L., Kao, F.-T. Induced segregation of human syntenic genes by 5-bromodeoxyuridine plus near-visible light. Somat. Cell Genet. 4: 465-476, 1978. [PubMed: 684558] [Full Text: https://doi.org/10.1007/BF01538867]

  6. Lewis, W. H. P., Corney, G., Harris, H. Pep A5-1 and pep A6-1: two new variants of peptidase A with features of special interest. Ann. Hum. Genet. 32: 35-42, 1968.

  7. Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.

  8. Ruddle, F. H., Chapman, V. M., Chen, T.-R., Klebe, R. J. Linkage between human lactate dehydrogenase A and B and peptidase B. Nature 227: 251-257, 1970. [PubMed: 5428191] [Full Text: https://doi.org/10.1038/227251a0]

  9. Womack, J. E., Ashley, S., Barnett, L. B., Lewis, S. E. Linkage of Pep-2 and Apk on mouse chromosome 10. Biochem. Genet. 24: 721-727, 1986. [PubMed: 3535785] [Full Text: https://doi.org/10.1007/BF00499005]


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

Edit History:
alopez : 11/07/2013
carol : 12/14/2009
warfield : 3/3/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
carol : 4/20/1989
marie : 3/25/1988



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 6, 2024