DPY19L3 Gene
Dpy-19 Like C-Mannosyltransferase 3
Gene Information Card
| Symbol | DPY19L3 |
|---|---|
| Full Name | Dpy-19 Like C-Mannosyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 147841 ncbi.nlm.nih.gov/gene/147841 |
| Ensembl ID | ENSG00000188342 |
| UniProt ID | Q6ZPD9 |
| OMIM ID | 616821 |
| HGNC ID | 28379 |
| Aliases | dpy-19-like 3, FLJ37099 |
Description
DPY19L3 encodes a member of the DPY19 family of C-mannosyltransferases. The protein localizes to the endoplasmic reticulum and catalyzes the transfer of mannose to tryptophan residues in target proteins, a process known as C-mannosylation. This modification is important for protein folding, stability, and secretion. DPY19L3 is involved in the C-mannosylation of thrombospondin type 1 repeat (TSR) domain-containing proteins, including ADAMTS-like proteins and semaphorins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.1 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Liver | 5.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to nonsense-mediated decay or truncated non-functional protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein O-linked glycosylation (GO:0006493) | • protein lipidation (GO:0006497) |
| • protein N-linked glycosylation via asparagine (GO:0018279) | • protein C-linked glycosylation (GO:0035268) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• C-mannosylation of thrombospondin type 1 repeat (TSR) domain-containing proteins
Protein Summary
DPY19L3 is a 684-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a C-mannosyltransferase, adding mannose to tryptophan residues in target proteins. This modification is essential for proper folding and secretion of TSR domain-containing proteins. The protein is widely expressed, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPY19L3 Knockout HEK293 Cell Line | EDJ-KQ10703 | Human | 147991 | Details Get a Quote |
| DPY19L3 Knockout A-549 Cell Line | EDJ-KQ36953 | Human | 147991 | Details Get a Quote |
| DPY19L3 Knockout HCT 116 Cell Line | EDJ-KQ38257 | Human | 147991 | Details Get a Quote |
| DPY19L3 Knockout HeLa Cell Line | EDJ-KQ38258 | Human | 147991 | Details Get a Quote |
