RCSD1
RCSD1 Domain Containing 1
Gene Information Card
| Symbol | RCSD1 |
|---|---|
| Full Name | RCSD1 Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 92241 ncbi.nlm.nih.gov/gene/92241 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q6P9B9 |
| OMIM ID | 617547 |
| HGNC ID | 28558 |
| Aliases | MGC13170, CAPZIP, RCSD1 |
Description
RCSD1 (RCSD1 Domain Containing 1) is a protein-coding gene located on chromosome 1q24.1. The encoded protein contains a CAP-ZIP domain and is involved in actin cytoskeleton regulation and cell migration. RCSD1 is expressed in various tissues and has been implicated in cancer and immune system disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | RCSD1 fusions (e.g., with RUNX1) may drive leukemogenesis | COSMIC, ClinVar |
| Breast Cancer | Altered expression associated with tumor progression | NCBI Gene |
| Colorectal Cancer | Potential role in metastasis via cytoskeletal remodeling | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 8.3 | Low |
| Brain | 3.1 | Low |
| Heart | 2.0 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| K562 | 22.1 | Leukemia cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| HCT116 | 9.4 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg123Trp | Missense | 0.02% | Unknown |
| p.Glu456* | Nonsense | 0.01% | Loss of function |
| RUNX1-RCSD1 fusion | Gene fusion | Rare | Oncogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Glu456*) lead to truncated protein and loss of function.
Gain of Function (GOF)
Not documented.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cytoskeleton |
| • cell migration | • protein binding |
Pathways
• Regulation of actin cytoskeleton
• Focal adhesion
Protein Summary
The RCSD1 protein (UniProt Q6P9B9) contains a CAP-ZIP domain and localizes to the cytoplasm. It interacts with actin and may regulate cytoskeletal dynamics. The protein is 456 amino acids long and has a molecular weight of approximately 51 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCSD1 Knockout HEK293 Cell Line | EDJ-KQ10855 | Human | 92241 | Details Get a Quote |
| RCSD1 Knockout HeLa Cell Line | EDJ-KQ57830 | Human | 92241 | Details Get a Quote |
| RCSD1 Knockout A-549 Cell Line | EDJ-KQ66329 | Human | 92241 | Details Get a Quote |
| RCSD1 Knockout HCT 116 Cell Line | EDJ-KQ74753 | Human | 92241 | Details Get a Quote |
