RNF145: Ring Finger Protein 145
A ubiquitin ligase involved in ER-associated degradation and lipid metabolism regulation
Gene Information Card
| Symbol | RNF145 |
|---|---|
| Full Name | Ring Finger Protein 145 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 153830 ncbi.nlm.nih.gov/gene/153830 |
| Ensembl ID | ENSG00000164199 |
| UniProt ID | Q96MT1 |
| OMIM ID | 616484 |
| HGNC ID | 21157 |
| Aliases | FLJ12529, MGC138290 |
Description
RNF145 encodes a ring finger protein that functions as an E3 ubiquitin ligase. It is involved in endoplasmic reticulum-associated degradation (ERAD) and plays a role in the regulation of lipid metabolism, particularly through the ubiquitination and degradation of HMG-CoA reductase and other targets. The protein contains a RING-type zinc finger domain essential for its ubiquitin ligase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia | Regulation of HMGCR degradation via ubiquitination | PMID: 29343546 |
| Cancer (colorectal) | Potential role in Wnt signaling modulation | PMID: 31474322 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small intestine | 10.2 | Medium |
| Adipose tissue | 8.7 | Low |
| Kidney | 7.3 | Low |
| Brain | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| Caco-2 | 11.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 9.2 | Embryonic kidney cell line |
| HeLa | 6.5 | Cervical adenocarcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | 0.001% | Unknown functional effect |
| c.1246G>A (p.Glu416Lys) | Missense | 0.002% | Potential loss of ubiquitin ligase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the RING domain may impair E3 ligase activity, reducing degradation of HMGCR and leading to elevated cholesterol levels.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data:
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • zinc ion binding (GO:0008270) |
| • protein ubiquitination (GO:0016567) | • endoplasmic reticulum (GO:0005783) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • cellular lipid metabolic process (GO:0044255) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD)
• Sterol regulatory element-binding protein (SREBP) signaling
• Ubiquitin-proteasome pathway
Protein Summary
RNF145 is a 617-amino acid E3 ubiquitin ligase with a RING finger domain. It localizes to the endoplasmic reticulum membrane and mediates ubiquitination of target proteins such as HMG-CoA reductase, thereby regulating cholesterol biosynthesis. The protein also interacts with the ERAD machinery to facilitate degradation of misfolded proteins. Expression is highest in liver and small intestine, consistent with its role in lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF145 Knockout HEK293 Cell Line | EDJ-KQ3479 | Human | 153830 | Details Get a Quote |
| RNF145 Knockout A-549 Cell Line | EDJ-KQ23871 | Human | 153830 | Details Get a Quote |
| RNF145 Knockout HCT 116 Cell Line | EDJ-KQ25251 | Human | 153830 | Details Get a Quote |
| RNF145 Knockout HeLa Cell Line | EDJ-KQ25252 | Human | 153830 | Details Get a Quote |
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