DOLPP1
Dolichyl Pyrophosphate Phosphatase 1
Gene Information Card
| Symbol | DOLPP1 |
|---|---|
| Full Name | Dolichyl Pyrophosphate Phosphatase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 57171 ncbi.nlm.nih.gov/gene/57171 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q86YH6 |
| OMIM ID | 618391 |
| HGNC ID | 25635 |
| Aliases | DOLPP, DPP1, DOLP1 |
Description
DOLPP1 encodes dolichyl pyrophosphate phosphatase 1, an enzyme that catalyzes the dephosphorylation of dolichyl pyrophosphate to dolichyl phosphate, a critical step in the dolichol cycle required for N-linked protein glycosylation. This gene is essential for proper glycosylation of proteins in the endoplasmic reticulum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type IIn | Loss-of-function mutations in DOLPP1 impair dolichyl phosphate recycling, leading to underglycosylation of proteins. | ClinVar, OMIM |
| Intellectual disability | Biallelic DOLPP1 variants have been associated with neurodevelopmental delay and intellectual disability. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Testis | 15.1 | High |
| Pancreas | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HepG2 | 11.2 | Medium expression |
| SH-SY5Y | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Impaired phosphatase activity |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants in DOLPP1 cause congenital disorder of glycosylation type IIn.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • dolichyl-diphosphatase activity | • magnesium ion binding |
| • dolichol metabolic process | • protein N-linked glycosylation |
| • endoplasmic reticulum membrane |
Pathways
• Dolichol phosphate biosynthesis
• N-glycan biosynthesis
Protein Summary
DOLPP1 is a 237-amino acid transmembrane protein localized to the endoplasmic reticulum. It belongs to the phosphatidic acid phosphatase type 2 family and functions as a dolichyl pyrophosphate phosphatase, converting dolichyl pyrophosphate to dolichyl phosphate, which is essential for the dolichol cycle and N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DOLPP1 Knockout HEK293 Cell Line | EDJ-KQ13201 | Human | 57171 | Details Get a Quote |
| DOLPP1 Knockout A-549 Cell Line | EDJ-KQ42571 | Human | 57171 | Details Get a Quote |
| DOLPP1 Knockout HCT 116 Cell Line | EDJ-KQ42572 | Human | 57171 | Details Get a Quote |
| DOLPP1 Knockout HeLa Cell Line | EDJ-KQ42573 | Human | 57171 | Details Get a Quote |
