RNF144A
Ring Finger Protein 144A, an E3 ubiquitin-protein ligase involved in DNA repair and apoptosis
Gene Information Card
| Symbol | RNF144A |
|---|---|
| Full Name | Ring Finger Protein 144A |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 9781 ncbi.nlm.nih.gov/gene/9781 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9H7S9 |
| OMIM ID | 612495 |
| HGNC ID | 24529 |
| Aliases | UBCE7IP3, RNF144, FLJ10520 |
Description
RNF144A encodes an E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins, playing roles in DNA damage response, apoptosis, and cell cycle regulation. It interacts with UBE2D2 and UBE2L3 E2 enzymes and is involved in the ubiquitin-proteasome pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect DNA repair and apoptosis; potential tumor suppressor role | NCBI Gene, COSMIC |
| Colorectal cancer | Mutations and expression changes observed; possible involvement in tumorigenesis | COSMIC, ClinVar |
| Lung cancer | Dysregulation reported; may influence cell survival pathways | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Detectable |
| MCF7 | 7.4 | Low expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional impact |
| c.200C>T | nonsense | <0.1% | Predicted loss of function |
| c.350G>A | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of E3 ligase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein ubiquitination |
| • zinc ion binding | • nucleus |
| • cytoplasm | • DNA repair |
| • apoptotic process |
Pathways
• Ubiquitin mediated proteolysis
• p53 signaling pathway
• DNA damage response
Protein Summary
RNF144A is a 327-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to the nucleus and cytoplasm and participates in ubiquitination of substrates involved in DNA repair and apoptosis. Its expression is regulated in a tissue-specific manner.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF144A Knockout HEK293 Cell Line | EDJ-KQ6746 | Human | 9781 | Details Get a Quote |
| RNF144A Knockout A-549 Cell Line | EDJ-KQ31156 | Human | 9781 | Details Get a Quote |
| RNF144A Knockout HCT 116 Cell Line | EDJ-KQ31157 | Human | 9781 | Details Get a Quote |
| RNF144A Knockout HeLa Cell Line | EDJ-KQ31158 | Human | 9781 | Details Get a Quote |
