RNF144B
Ring Finger Protein 144B: E3 Ubiquitin Ligase in DNA Repair and Apoptosis
Gene Information Card
| Symbol | RNF144B |
|---|---|
| Full Name | Ring Finger Protein 144B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 255488 ncbi.nlm.nih.gov/gene/255488 |
| Ensembl ID | ENSG00000137312 |
| UniProt ID | Q7Z419 |
| OMIM ID | 612014 |
| HGNC ID | 26270 |
| Aliases | IBRDC2, RNF144, RNF199 |
Description
RNF144B encodes an E3 ubiquitin ligase of the RING-between-RING (RBR) family. The protein contains a RING finger domain, two B-box domains, and a coiled-coil region. It ubiquitinates substrates such as DNA polymerase beta and promotes proteasomal degradation, playing roles in DNA repair, apoptosis, and cell cycle regulation. RNF144B is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RNF144B downregulation correlates with poor prognosis; loss of function impairs DNA repair | PMID: 25620004 |
| Colorectal cancer | Reduced expression associated with tumor progression and metastasis | PMID: 27323850 |
| Glioblastoma | RNF144B overexpression linked to radioresistance via DNA repair modulation | PMID: 30397376 |
| Parkinson disease | Potential role in ubiquitination of alpha-synuclein; genetic association studies | PMID: 28472620 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 18.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 10.1 | Breast cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cell line |
| A549 | 9.5 | Lung cancer cell line |
| U87MG | 14.7 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Potential loss of ubiquitin ligase activity |
| c.832_833insA | Frameshift | <0.01% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, eliminating the RING domain and ubiquitin ligase activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not described for RNF144B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• DNA damage response (Reactome: R-HSA-73893)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
RNF144B is a 654-amino acid E3 ubiquitin ligase with a RING finger domain, two B-box domains, and a coiled-coil region. It localizes to the nucleus and cytoplasm. The enzyme catalyzes ubiquitination of target proteins, including DNA polymerase beta, leading to their proteasomal degradation. RNF144B is involved in the DNA damage response, apoptosis, and cell cycle control. Its expression is altered in several cancers, and it may serve as a prognostic marker.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF144B Knockout HEK293 Cell Line | EDJ-KQ11802 | Human | 255488 | Details Get a Quote |
| RNF144B Knockout A-549 Cell Line | EDJ-KQ38961 | Human | 255488 | Details Get a Quote |
| RNF144B Knockout HCT 116 Cell Line | EDJ-KQ40217 | Human | 255488 | Details Get a Quote |
| RNF144B Knockout HeLa Cell Line | EDJ-KQ59280 | Human | 255488 | Details Get a Quote |
