PXD044793 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Disintegrin-and-metalloproteinase-19 cleaves parathyroid hormone receptor and could cause brachydactyly type E |
| Description | Brachydactyly type E (BDE), shortened metacarpals, metatarsals, cone-shaped epiphyses, and short stature, is an autosomal-dominant condition that commonly occurs as a sole phenotype. Parathyroid hormone-like protein (PTHrP) has been shown to be responsible in all forms to date, either directly or indirectly. We used linkage and then whole genome sequencing in a small pedigree, to elucidate BDE and identified a truncated disintegrin-and-metalloproteinase-19 (ADAM19) allele in all affected family members, but not in nonaffected persons. Since we had shown earlier that the extracellular domain of the parathyroid hormone receptor (PTHR1) is subject to an unidentified metalloproteinase cleavage, we tested the hypothesis that ADAM19 is a sheddase for PTHR1. Wild-type ADAM19 cleaved PTHR1, while mutated ADAM-19 did not. Alanine substitutions mapped the N-terminal cleavage site of PTHR1. For mass spectrometry verification, different proteases have been used, to identify the cleavage products in ADAM-19 and PTHR1 transfected HEK-293 cells. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-07-07 |
| AnnouncementXML | Submission_2026-07-07_02:21:16.126.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Henrik Zauber |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; |
| ModificationList | acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue |
| Instrument | Orbitrap Exploris 480 |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2023-08-23 05:39:57 | ID requested | |
| ⏵ 1 | 2026-07-07 02:21:17 | announced | |
Publication List
| Aydin A, Klenk C, Nemec K, I, ş, bilir A, Martin LM, Zauber H, Rrustemi T, Toka HR, Schuster H, Gong M, Stricker S, Bock A, B, ä, hring S, Selbach M, Lohse MJ, Luft FC, ADAM19 cleaves the PTH receptor and associates with brachydactyly type E. Life Sci Alliance, 7(4):(2024) [pubmed] |
| 10.26508/lsa.202302400; |
Keyword List
| submitter keyword: Human,Parathyroid receptor, Brachydactyly type E,Shotgun Proteomics, Disintegrin-and-metalloproteinase-19,LC-MSMS, GFP, Parathyroid-related peptide |
Contact List
| Matthias Selbach |
|---|
| contact affiliation | Max Delbrück Center for Molecular Medicine in the Helmholtz Association |
| contact email | matthias.selbach@mdc-berlin.de |
| lab head | |
| Henrik Zauber |
|---|
| contact affiliation | MDC Berlin-Buch |
| contact email | henrik.zauber@mdc-berlin.de |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD044793
- Label: PRIDE project
- Name: Disintegrin-and-metalloproteinase-19 cleaves parathyroid hormone receptor and could cause brachydactyly type E
