RNF103 (Ring Finger Protein 103)
A ubiquitin ligase gene with roles in protein degradation and potential links to neurodevelopmental disorders.
Gene Information Card
| Symbol | RNF103 |
|---|---|
| Full Name | ring finger protein 103 |
| Gene Type | protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 7844 ncbi.nlm.nih.gov/gene/7844 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | O00237 |
| OMIM ID | 603365 |
| HGNC ID | 10069 |
| Aliases | ZFP103, KF-1, hZFP103 |
Description
RNF103 encodes a RING finger protein that functions as an E3 ubiquitin ligase, involved in ubiquitination and subsequent proteasomal degradation of target proteins. The gene is located on chromosome 2p11.2 and is expressed in multiple tissues, with notable levels in the brain. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Potential loss of function leading to impaired ubiquitination | ClinVar (VCV000813024.1) |
| Intellectual disability | Disruption of protein degradation pathways | ClinVar (VCV000813024.1) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 14.3 | Neuroblastoma cells |
| HeLa | 7.8 | Cervical carcinoma cells |
| K562 | 6.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, predicted loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants predicted to disrupt E3 ligase activity or protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • protein ubiquitination | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • nucleus | • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
The RNF103 protein (UniProt O00237) is a 403-amino acid E3 ubiquitin ligase containing a RING-type zinc finger domain. It mediates the transfer of ubiquitin from E2 enzymes to specific substrates, targeting them for degradation by the proteasome. The protein is localized to the nucleus and cytoplasm and is involved in cellular stress responses and protein quality control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF103 Knockout HEK293 Cell Line | EDJ-KQ6131 | Human | 7844 | Details Get a Quote |
| RNF103 Knockout A-549 Cell Line | EDJ-KQ29904 | Human | 7844 | Details Get a Quote |
| RNF103 Knockout HCT 116 Cell Line | EDJ-KQ29905 | Human | 7844 | Details Get a Quote |
| RNF103 Knockout HeLa Cell Line | EDJ-KQ29906 | Human | 7844 | Details Get a Quote |
| RNF103-CHMP3 Knockout HEK293 Cell Line | EDJ-KQ52473 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout HeLa Cell Line | EDJ-KQ60936 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout A-549 Cell Line | EDJ-KQ69411 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout HCT 116 Cell Line | EDJ-KQ77762 | Human | 100526767 | Details Get a Quote |
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