UIMC1
Ubiquitin Interaction Motif Containing 1
Gene Information Card
| Symbol | UIMC1 |
|---|---|
| Full Name | Ubiquitin Interaction Motif Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 51720 ncbi.nlm.nih.gov/gene/51720 |
| Ensembl ID | ENSG00000187231 |
| UniProt ID | Q96RL1 |
| OMIM ID | 609433 |
| HGNC ID | 30298 |
| Aliases | RAP80, X2HR9 |
Description
UIMC1 (Ubiquitin Interaction Motif Containing 1), also known as RAP80, encodes a protein that contains two ubiquitin-interacting motifs (UIMs) and functions in the DNA damage response. It recruits the BRCA1-A complex to sites of double-strand breaks by binding ubiquitin chains, facilitating DNA repair and cell cycle checkpoint activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered recruitment of BRCA1 to DNA damage sites due to UIMC1 variants may impair homologous recombination repair, increasing genomic instability. | ClinVar, COSMIC |
| Ovarian cancer | Loss of UIMC1 expression or function disrupts BRCA1-A complex assembly, potentially contributing to tumorigenesis. | COSMIC, NCBI Gene |
| Fanconi anemia | UIMC1 interacts with FANCD2; defects may impair interstrand crosslink repair. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Ovary | 7.1 | Medium |
| Bone marrow | 6.8 | Medium |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 10.1 | Breast cancer cell line |
| HeLa | 9.5 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| K562 | 7.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1270C>T (p.Arg424Trp) | Missense | 0.001% (gnomAD) | May alter UIM function; reported in breast cancer |
| c.1546_1547del (p.Lys516Glufs*2) | Frameshift | <0.001% | Predicted loss of function; associated with ovarian cancer |
| c.1A>G (p.Met1Val) | Start loss | Rare | Likely loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants that truncate or abolish UIMC1 protein, impairing BRCA1 recruitment.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in UIM domains may disrupt ubiquitin binding and interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • ubiquitin binding |
| • double-strand break repair via homologous recombination | • protein ubiquitination |
| • cell cycle checkpoint |
Pathways
• BRCA1-A complex pathway
• Homologous recombination repair
• DNA damage response
Protein Summary
UIMC1 (RAP80) is a 719-amino acid protein containing two N-terminal ubiquitin-interacting motifs (UIMs) that bind K63-linked ubiquitin chains at DNA damage sites. It serves as a scaffold for the BRCA1-A complex, recruiting BRCA1, BARD1, and other factors to promote efficient DNA repair. The protein also localizes to the nucleus and is involved in cell cycle arrest after ionizing radiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UIMC1 Knockout HEK293 Cell Line | EDJ-KQ475 | Human | 51720 | Details Get a Quote |
| UIMC1 Knockout A-549 Cell Line | EDJ-KQ20119 | Human | 51720 | Details Get a Quote |
| UIMC1 Knockout HCT 116 Cell Line | EDJ-KQ20121 | Human | 51720 | Details Get a Quote |
| UIMC1 Knockout HeLa Cell Line | EDJ-KQ20122 | Human | 51720 | Details Get a Quote |
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