PRTFDC1
Phosphoribosyl Transferase Domain Containing 1
Gene Information Card
| Symbol | PRTFDC1 |
|---|---|
| Full Name | Phosphoribosyl Transferase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 56979 ncbi.nlm.nih.gov/gene/56979 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9NRG1 |
| OMIM ID | 610405 |
| HGNC ID | 25169 |
| Aliases | PRTFDC1, MGC13170, dJ402H5.2 |
Description
PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1) is a protein-coding gene located on chromosome 10p12.31. It encodes a protein with a phosphoribosyl transferase domain, which may be involved in nucleotide metabolism. The gene is expressed in various tissues and has been studied in the context of cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential role in cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Possible involvement in growth and differentiation | Limited evidence from gene expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| MCF7 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.456G>A (p.Trp152Ter) | Nonsense | <0.001% | Predicted loss-of-function |
| c.789_790insA | Frameshift | <0.001% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphoribosyl transferase activity | • nucleotide metabolic process |
| • cytoplasm |
Pathways
• Purine metabolism (Reactome: R-HSA-73817)
Protein Summary
The PRTFDC1 protein contains a phosphoribosyl transferase domain, suggesting a role in nucleotide salvage pathways. It is localized in the cytoplasm and may participate in purine metabolism. The protein is encoded by a gene on chromosome 10 and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRTFDC1 Knockout HEK293 Cell Line | EDJ-KQ14939 | Human | 56952 | Details Get a Quote |
| PRTFDC1 Knockout A-549 Cell Line | EDJ-KQ45387 | Human | 56952 | Details Get a Quote |
| PRTFDC1 Knockout HeLa Cell Line | EDJ-KQ45388 | Human | 56952 | Details Get a Quote |
| PRTFDC1 Knockout HCT 116 Cell Line | EDJ-KQ73722 | Human | 56952 | Details Get a Quote |
