PTAR1 Gene - Protein Prenyltransferase Alpha Subunit Repeat Containing 1
Essential regulator of protein prenylation and intracellular trafficking
Gene Information Card
| Symbol | PTAR1 |
|---|---|
| Full Name | Protein Prenyltransferase Alpha Subunit Repeat Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 375743 ncbi.nlm.nih.gov/gene/375743 |
| Ensembl ID | ENSG00000185304 |
| UniProt ID | Q96N28 |
| OMIM ID | 617063 |
| HGNC ID | 23317 |
| Aliases | C10orf76, bA350J20.1, FLJ13154 |
Description
PTAR1 encodes a protein containing alpha subunit repeats characteristic of protein prenyltransferases. It is involved in the regulation of protein prenylation, a post-translational modification critical for membrane targeting and intracellular trafficking of small GTPases. The gene is located on chromosome 10q24.32 and is widely expressed across human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants
Gain of Function (GOF)
No documented gain-of-function variants
Dominant Negative (DN)
No documented dominant-negative variants
View complete mutation data：
Gene Ontology (GO)
| • prenyltransferase activity (GO:0004659) | • cytoplasm (GO:0005737) |
| • intracellular protein transport (GO:0006886) | • protein prenylation (GO:0018342) |
Pathways
• Protein prenylation (Reactome: R-HSA-597592)
Protein Summary
The PTAR1 protein (UniProt Q96N28) contains multiple tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions. It is predicted to function as a regulatory subunit of prenyltransferase complexes, facilitating the addition of prenyl groups to target proteins. Its exact biochemical role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTAR1 Knockout HEK293 Cell Line | EDJ-KQ14949 | Human | 375743 | Details Get a Quote |
| PTAR1 Knockout A-549 Cell Line | EDJ-KQ45407 | Human | 375743 | Details Get a Quote |
| PTAR1 Knockout HCT 116 Cell Line | EDJ-KQ45408 | Human | 375743 | Details Get a Quote |
| PTAR1 Knockout HeLa Cell Line | EDJ-KQ45409 | Human | 375743 | Details Get a Quote |
