RCCD1
RCC1 Domain Containing 1
Gene Information Card
| Symbol | RCCD1 |
|---|---|
| Full Name | RCC1 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 91433 ncbi.nlm.nih.gov/gene/91433 |
| Ensembl ID | ENSG00000166947 |
| UniProt ID | Q96A33 |
| OMIM ID | 617664 |
| HGNC ID | 25644 |
| Aliases | C15orf33, MGC13170 |
Description
RCCD1 (RCC1 Domain Containing 1) is a protein-coding gene located on chromosome 15q26.1. The encoded protein contains a regulator of chromosome condensation (RCC1) domain and is involved in chromatin regulation and cell cycle progression. RCCD1 interacts with histone H3 and may function in mitotic spindle assembly and chromosome segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RCCD1 overexpression associated with poor prognosis; potential role in tumor proliferation | PMID: 25605274 |
| Colorectal cancer | RCCD1 upregulation linked to increased cell migration and invasion | PMID: 29351290 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney |
| HeLa | 12.3 | Cervical carcinoma |
| MCF7 | 10.1 | Breast cancer |
| HCT116 | 9.5 | Colorectal carcinoma |
| K562 | 8.7 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect |
| c.632A>G (p.Gln211Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RCCD1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RCCD1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in RCCD1.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • protein binding |
| • nucleus | • cytoplasm |
| • mitotic spindle |
Pathways
• Cell cycle
• Chromatin organization
Protein Summary
The RCCD1 protein (UniProt Q96A33) is 367 amino acids long and contains an N-terminal RCC1 domain. It localizes to the nucleus and cytoplasm, binds histones, and is implicated in mitotic spindle assembly and chromosome segregation. Expression is highest in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCCD1 Knockout HeLa Cell Line | EDJ-KQ38317 | Human | 91433 | Details Get a Quote |
| RCCD1 Knockout HCT 116 Cell Line | EDJ-KQ38316 | Human | 91433 | Details Get a Quote |
| RCCD1 Knockout A-549 Cell Line | EDJ-KQ38315 | Human | 91433 | Details Get a Quote |
| RCCD1 Knockout HEK293 Cell Line | EDJ-KQ10735 | Human | 91433 | Details Get a Quote |
