RSRC1 (Arginine and Serine Rich Coiled-Coil 1)
A gene encoding a splicing factor involved in RNA processing and potential roles in cancer and neurodevelopment.
Gene Information Card
| Symbol | RSRC1 |
|---|---|
| Full Name | Arginine and Serine Rich Coiled-Coil 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 84912 ncbi.nlm.nih.gov/gene/84912 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q96IZ7 |
| OMIM ID | 611778 |
| HGNC ID | 24182 |
| Aliases | SR-related protein, SFRS17A, SRrp35, SRSF17A |
Description
RSRC1 (Arginine and Serine Rich Coiled-Coil 1) encodes a member of the serine/arginine (SR) protein family, which functions as a splicing factor in pre-mRNA processing. The protein contains an RS domain and a coiled-coil region, and it is involved in alternative splicing regulation. RSRC1 has been implicated in cancer progression and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered splicing of oncogenes/tumor suppressors; overexpression in some tumors | COSMIC; literature |
| Neurodevelopmental disorders | Potential role in neuronal splicing; rare variants reported | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 5.2 | Low expression |
| HepG2 | 4.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; potential disease association |
| c.782G>A (p.Arg261Gln) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • nucleus | • spliceosomal complex |
| • protein binding |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The RSRC1 protein is a 35 kDa SR-related splicing factor that localizes to the nucleus and interacts with other spliceosomal components. It contains an N-terminal RS domain and a C-terminal coiled-coil region, facilitating protein-protein interactions and RNA binding. RSRC1 regulates alternative splicing of genes involved in cell cycle and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSRC1 Knockout HEK293 Cell Line | EDJ-KQ11053 | Human | 51319 | Details Get a Quote |
| RSRC1 Knockout A-549 Cell Line | EDJ-KQ38973 | Human | 51319 | Details Get a Quote |
| RSRC1 Knockout HCT 116 Cell Line | EDJ-KQ38974 | Human | 51319 | Details Get a Quote |
| RSRC1 Knockout HeLa Cell Line | EDJ-KQ37666 | Human | 51319 | Details Get a Quote |
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