RING1
Ring Finger Protein 1, Polycomb Group Protein
Gene Information Card
| Symbol | RING1 |
|---|---|
| Full Name | Ring Finger Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 6015 ncbi.nlm.nih.gov/gene/6015 |
| Ensembl ID | ENSG00000104529 |
| UniProt ID | Q06587 |
| OMIM ID | 602045 |
| HGNC ID | 10060 |
| Aliases | RING1A, RNF1 |
Description
RING1 (Ring Finger Protein 1) encodes a member of the polycomb group (PcG) family. The protein is a core component of the Polycomb Repressive Complex 1 (PRC1) and mediates monoubiquitination of histone H2A at lysine 119, a key mark for transcriptional repression. RING1 is essential for embryonic development, stem cell maintenance, and X-chromosome inactivation. Dysregulation of RING1 is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or mutation of RING1 disrupts PRC1-mediated gene silencing, leading to aberrant cell proliferation and tumorigenesis. | COSMIC, ClinVar |
| Developmental disorders | Loss-of-function mutations in RING1 impair polycomb repression, causing abnormal gene expression during embryogenesis. | OMIM, NCBI |
| X-linked intellectual disability | RING1 mutations may affect X-chromosome inactivation, contributing to cognitive impairment. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Brain | 6.5 | Low |
| Lung | 5.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 9.4 | Cervical cancer cells |
| K562 | 8.2 | Leukemia cells |
| MCF7 | 7.6 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown significance |
| c.400_401insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the RING finger domain or cause premature truncation impair E3 ubiquitin ligase activity and PRC1 function.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as a gain-of-function by enhancing repression of tumor suppressor genes.
Dominant Negative (DN)
Not reported for RING1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polycomb Repressive Complex 1 (PRC1) pathway
• Histone H2A monoubiquitination
• Chromatin silencing
• Developmental gene regulation
Protein Summary
RING1 is a 406-amino acid protein containing a RING finger domain at the N-terminus (residues 53-93) that mediates E3 ubiquitin ligase activity. It forms the catalytic core of PRC1, monoubiquitinating histone H2A at Lys119. The protein also contains a C-terminal RAWUL domain involved in complex assembly. RING1 is ubiquitously expressed with highest levels in testis and bone marrow. It interacts with other PRC1 components such as BMI1, PCGF, and PHC proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RING1 Knockout HEK293 Cell Line | EDJ-KQ5666 | Human | 6015 | Details Get a Quote |
| RING1 Knockout A-549 Cell Line | EDJ-KQ29016 | Human | 6015 | Details Get a Quote |
| RING1 Knockout HCT 116 Cell Line | EDJ-KQ29017 | Human | 6015 | Details Get a Quote |
| RING1 Knockout HeLa Cell Line | EDJ-KQ29018 | Human | 6015 | Details Get a Quote |
