DPY19L1 Gene - Dpy-19 Like C-Mannosyltransferase 1
Comprehensive genomic and functional analysis of DPY19L1, a C-mannosyltransferase involved in protein glycosylation and neurodevelopment.
Gene Information Card
| Symbol | DPY19L1 |
|---|---|
| Full Name | Dpy-19 Like C-Mannosyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 23333 ncbi.nlm.nih.gov/gene/23333 |
| Ensembl ID | ENSG00000105877 |
| UniProt ID | Q8N4P3 |
| OMIM ID | 617422 |
| HGNC ID | 20297 |
| Aliases | dpy-19-like 1, FLJ20297, MGC138290 |
Description
DPY19L1 encodes a C-mannosyltransferase that transfers mannose to tryptophan residues in target proteins, a post-translational modification important for protein folding and secretion. The gene is evolutionarily conserved and plays a role in neurodevelopment, particularly in cortical neuron migration. Mutations in DPY19L1 have been associated with autosomal recessive intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive intellectual disability | Loss-of-function mutations impair C-mannosylation, disrupting neuronal migration and cortical development | PMID: 27616479; ClinVar |
| Neurodevelopmental disorder with microcephaly and seizures | Homozygous missense variants reduce enzymatic activity, leading to impaired brain growth and epileptic activity | PMID: 31006510; OMIM #617422 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Thyroid | 6.1 | Medium |
| Adrenal gland | 5.0 | Medium |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common overexpression system |
| HeLa (cervical carcinoma) | 4.5 | Epithelial |
| K562 (leukemia) | 2.0 | Myeloid |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1672C>T (p.Arg558*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Reduced C-mannosyltransferase activity |
| c.2113_2114del (p.Leu705Valfs*12) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein; missense variants may reduce enzymatic activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • C-mannosyltransferase activity | • endoplasmic reticulum membrane |
| • protein glycosylation | • mannosyltransferase activity |
| • integral component of membrane |
Pathways
• C-mannosylation of thrombospondin type 1 repeat (TSR) domain-containing proteins
• Protein glycosylation in the endoplasmic reticulum
Protein Summary
DPY19L1 is a 741-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the transfer of mannose from dolichol-phosphate-mannose to tryptophan residues in target proteins, a process known as C-mannosylation. This modification is critical for proper folding, stability, and secretion of proteins such as thrombospondins and ADAMTS family members. The protein contains multiple transmembrane domains and a conserved DPY19 domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPY19L1 Knockout HEK293 Cell Line | EDJ-KQ7971 | Human | 23333 | Details Get a Quote |
| DPY19L1 Knockout A-549 Cell Line | EDJ-KQ32335 | Human | 23333 | Details Get a Quote |
| DPY19L1 Knockout HCT 116 Cell Line | EDJ-KQ33669 | Human | 23333 | Details Get a Quote |
| DPY19L1 Knockout HeLa Cell Line | EDJ-KQ33670 | Human | 23333 | Details Get a Quote |
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