Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene

T. J. Sprinkle, A. A. Stone, R. C. Venema, N. D. Denslow, C. Caldwell, J. W. Ryan

Research output: Contribution to journalArticle

Abstract

The human aminopeptidase P gene (XPNPEP) encodes an enzyme (EC 3.4.11.9) capable of hydrolyzing a terminal imido bond. The gene exhibits sequence homology to other metallopeptidases of the "pita-bread-fold" family, including five putative metal-binding sites. Human aminopeptidase P cDNA was recently cloned (Genbank U90724). Although a gene product of 75,490 daltons is predicted by the sequence, it is GPI-anchored, and therefore, it is likely that a signal peptide is removed during processing on the ER. Two genomic clones were obtained using PCR screening of 5'-UTR and most 3' cds into 3'UTR primer pairs designed from the cDNA sequence. The GPI-anchored form of aminopeptidase P was localized to X and further sublocalized specifically to human chromosome Xq25. Gene ordering about that locus is in progress. Localization of the soluble form of the enzyme has not yet been determined. Additional sequence has been obtained from these clones and will be presented. A previous case study on a peptiduria in two related male subjects was reported some time ago. One subject was treated for epilepsy and was severely mentally retarded. The subject's brother also exhibited the peptiduria, but was asymptomatic. Both individuals did not have measurable levels of aminopeptidase P above background. This may represent a sex-lined mutation and is under investigation. The bond cleaved by this enzyme is common to several collagen degradation products, vasoactive peptides and cytokines, and some neuropeptides.

Original languageEnglish (US)
JournalFASEB Journal
Volume12
Issue number8
StatePublished - Dec 1 1998

Fingerprint

Cloning
Organism Cloning
Genes
Enzymes
Complementary DNA
Clone Cells
5' Untranslated Regions
Bread
Mentally Disabled Persons
Nucleic Acid Databases
Human Chromosomes
3' Untranslated Regions
Metalloproteases
Chromosomes
Sequence Homology
Protein Sorting Signals
Neuropeptides
Siblings
Epilepsy
Screening

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

Sprinkle, T. J., Stone, A. A., Venema, R. C., Denslow, N. D., Caldwell, C., & Ryan, J. W. (1998). Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene. FASEB Journal, 12(8).

Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene. / Sprinkle, T. J.; Stone, A. A.; Venema, R. C.; Denslow, N. D.; Caldwell, C.; Ryan, J. W.

In: FASEB Journal, Vol. 12, No. 8, 01.12.1998.

Research output: Contribution to journalArticle

Sprinkle, TJ, Stone, AA, Venema, RC, Denslow, ND, Caldwell, C & Ryan, JW 1998, 'Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene', FASEB Journal, vol. 12, no. 8.
Sprinkle TJ, Stone AA, Venema RC, Denslow ND, Caldwell C, Ryan JW. Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene. FASEB Journal. 1998 Dec 1;12(8).
Sprinkle, T. J. ; Stone, A. A. ; Venema, R. C. ; Denslow, N. D. ; Caldwell, C. ; Ryan, J. W. / Cloning, additional sequence and subchromosomal localization of the human XPNPEP gene. In: FASEB Journal. 1998 ; Vol. 12, No. 8.
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