UAP1L1 Gene - UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
Comprehensive genomic and proteomic information for UAP1L1 (HGNC:28082)
Gene Information Card
| Symbol | UAP1L1 |
|---|---|
| Full Name | UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 91373 ncbi.nlm.nih.gov/gene/91373 |
| Ensembl ID | ENSG00000197355 |
| UniProt ID | Q3KQV9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:28082 |
| Aliases | Not available |
Description
UAP1L1 (UDP-N-acetylglucosamine pyrophosphorylase 1 like 1) is a protein-coding gene located on chromosome 9q34.3. It encodes a protein that shares similarity with UAP1, which catalyzes the formation of UDP-N-acetylglucosamine, a key nucleotide sugar in glycosylation pathways. UAP1L1 may play a role in the biosynthesis of glycosaminoglycans and glycoproteins. Its expression is observed in various tissues, with notable levels in the liver and kidney. The gene is associated with potential implications in cancer and metabolic disorders, though detailed functional studies are ongoing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect glycosylation pathways, influencing tumor progression. | Expression data from GTEx and cancer cell lines suggest differential regulation. |
| Metabolic disorders | Potential involvement in UDP-GlcNAc metabolism, impacting cellular signaling. | Inferred from homology to UAP1 and pathway analysis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 6.5 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Liver cancer cell line |
| A549 | 8.7 | Lung carcinoma |
| MCF7 | 5.3 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Unknown |
| c.456C>T (p.R152W) | Missense | 0.005% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • UDP-N-acetylglucosamine diphosphorylase activity | • nucleotidyltransferase activity |
| • carbohydrate metabolic process | • UDP-N-acetylglucosamine biosynthetic process |
Pathways
• Amino sugar and nucleotide sugar metabolism
• Metabolic pathways
Protein Summary
The UAP1L1 protein is predicted to be a cytoplasmic enzyme involved in the synthesis of UDP-N-acetylglucosamine, a crucial substrate for glycosylation reactions. It shares structural similarity with UAP1, but its exact enzymatic activity and substrate specificity remain to be fully characterized. The protein contains a nucleotidyltransferase domain and is likely involved in cellular metabolism and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UAP1L1 Knockout HEK293 Cell Line | EDJ-KQ10726 | Human | 91373 | Details Get a Quote |
| UAP1L1 Knockout HCT 116 Cell Line | EDJ-KQ36997 | Human | 91373 | Details Get a Quote |
| UAP1L1 Knockout A-549 Cell Line | EDJ-KQ38291 | Human | 91373 | Details Get a Quote |
| UAP1L1 Knockout HeLa Cell Line | EDJ-KQ38293 | Human | 91373 | Details Get a Quote |
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