RNF44: Ring Finger Protein 44
A ubiquitin ligase with emerging roles in cellular signaling and potential implications in cancer
Gene Information Card
| Symbol | RNF44 |
|---|---|
| Full Name | Ring Finger Protein 44 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 22838 ncbi.nlm.nih.gov/gene/22838 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9H0E9 |
| OMIM ID | 616447 |
| HGNC ID | 17169 |
| Aliases | KIAA1100, RNF44_HUMAN |
Description
RNF44 (Ring Finger Protein 44) is a protein-coding gene located on chromosome 1p36.31. It encodes a RING finger domain-containing protein that functions as an E3 ubiquitin ligase, mediating ubiquitination and subsequent proteasomal degradation of target proteins. RNF44 is involved in various cellular processes including signal transduction, cell cycle regulation, and may play a role in cancer development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in tumor suppression via ubiquitination of oncogenic substrates | COSMIC mutation data; altered expression in breast tumors |
| Colorectal cancer | Mutations and copy number alterations observed | COSMIC; NCBI GeneRIF |
| Lung cancer | Somatic mutations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| MCF7 | 7.5 | Breast cancer cells |
| A549 | 6.8 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% | Unknown functional impact |
| c.1234G>A (p.Glu412Lys) | Missense | 0.01% | Unknown functional impact |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu486fs) predicted to truncate the protein and abolish E3 ligase activity.
Gain of Function (GOF)
No gain-of-function mutations currently documented in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
RNF44 is a 486-amino acid protein containing a RING-type zinc finger domain characteristic of E3 ubiquitin ligases. It localizes to the nucleus and cytoplasm and mediates ubiquitination of specific substrates, targeting them for proteasomal degradation. The protein is expressed in multiple tissues with highest levels in testis. Its role in cancer is under investigation, with somatic mutations and altered expression observed in several tumor types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF44 Knockout HEK293 Cell Line | EDJ-KQ6999 | Human | 22838 | Details Get a Quote |
| RNF44 Knockout A-549 Cell Line | EDJ-KQ33051 | Human | 22838 | Details Get a Quote |
| RNF44 Knockout HCT 116 Cell Line | EDJ-KQ33052 | Human | 22838 | Details Get a Quote |
| RNF44 Knockout HeLa Cell Line | EDJ-KQ33053 | Human | 22838 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
