SRRM3: Serine/Arginine Repetitive Matrix 3
A splicing regulator with emerging roles in cancer and neurodevelopment
Gene Information Card
| Symbol | SRRM3 |
|---|---|
| Full Name | Serine/arginine repetitive matrix 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 222183 ncbi.nlm.nih.gov/gene/222183 |
| Ensembl ID | ENSG00000177679 |
| UniProt ID | Q8IYB8 |
| OMIM ID | 617543 |
| HGNC ID | 29389 |
| Aliases | SRRM3, C7orf30, FLJ32709 |
Description
SRRM3 (Serine/arginine repetitive matrix 3) encodes a protein belonging to the serine/arginine (SR) family of splicing factors. It is involved in pre-mRNA splicing, particularly in the regulation of alternative splicing events. SRRM3 is expressed in multiple tissues and has been implicated in cancer progression and neurodevelopmental processes. The protein contains RS (arginine/serine) domains characteristic of SR proteins, facilitating interactions with other spliceosomal components.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SRRM3 expression may affect splicing of oncogenes/tumor suppressors | COSMIC; PMID: 25691885 |
| Colorectal cancer | SRRM3 overexpression correlates with poor prognosis and splicing dysregulation | COSMIC; PMID: 31068700 |
| Neurodevelopmental disorders | Rare variants in SRRM3 identified in patients with intellectual disability | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.2 | Estrogen receptor positive |
| HCT116 (colorectal) | 6.8 | Microsatellite unstable |
| HEK293 (embryonic kidney) | 5.9 | Model cell line |
| SH-SY5Y (neuroblastoma) | 4.5 | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; rare in population databases |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Reported in ClinVar as VUS |
| c.1789_1790insA (p.Thr597Asnfs*2) | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
Not established; no recurrent activating mutations reported.
Dominant Negative (DN)
Not described; potential if missense variants disrupt splicing complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • alternative mRNA splicing (GO:0000381) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) | • RNA binding (GO:0003723) |
| • cadherin binding (GO:0045296) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
SRRM3 is a 688-amino acid nuclear protein with multiple RS domains. It functions as a splicing regulator, interacting with other SR proteins and spliceosomal components to modulate alternative exon inclusion. The protein is highly expressed in brain and testis, and its dysregulation is linked to cancer and neurodevelopmental conditions. Structural studies indicate that SRRM3 can bind RNA and influence splice site selection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRRM3 Knockout HEK293 Cell Line | EDJ-KQ8210 | Human | 222183 | Details Get a Quote |
| SRRM3 Knockout A-549 Cell Line | EDJ-KQ35362 | Human | 222183 | Details Get a Quote |
| SRRM3 Knockout HCT 116 Cell Line | EDJ-KQ35364 | Human | 222183 | Details Get a Quote |
| SRRM3 Knockout HeLa Cell Line | EDJ-KQ59184 | Human | 222183 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
