SRRM5: Serine/Arginine Repetitive Matrix 5
A splicing regulator with emerging roles in cancer and neurodevelopment
Gene Information Card
| Symbol | SRRM5 |
|---|---|
| Full Name | Serine/Arginine Repetitive Matrix 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000205744 |
| UniProt ID | Q5T8A9 |
| OMIM ID | 620416 |
| HGNC ID | 37256 |
| Aliases | C19orf30, FLJ45803, SRRM5 |
Description
SRRM5 encodes a serine/arginine repetitive matrix protein involved in pre-mRNA splicing. It is a member of the SR-related protein family and localizes to nuclear speckles. SRRM5 modulates alternative splicing of genes implicated in cell cycle control and neuronal differentiation. Loss-of-function mutations have been linked to neurodevelopmental phenotypes, while overexpression is observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | Loss-of-function mutations in SRRM5 disrupt splicing of neuronal transcripts | ClinVar, OMIM |
| Breast cancer | SRRM5 overexpression correlates with altered splicing of oncogenic isoforms | COSMIC, NCBI |
| Lung adenocarcinoma | Somatic missense mutations in SRRM5 affect RNA-binding domain | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 2.4 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney; high SRRM5 expression |
| HeLa | 7.2 | Cervical carcinoma; moderate expression |
| MCF7 | 11.3 | Breast cancer; elevated expression |
| SH-SY5Y | 6.5 | Neuroblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.1% | Loss of function; associated with neurodevelopmental disorder |
| c.457G>A (p.Glu153Lys) | Missense | 0.2% | Impaired RNA binding; observed in lung adenocarcinoma |
| c.892_893insA (p.Thr298Asnfs*5) | Frameshift | <0.1% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in SRRM5 lead to truncated protein lacking the RS domain, resulting in loss of splicing regulatory activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SRRM5.
Dominant Negative (DN)
Missense mutations in the RNA recognition motif may exert dominant-negative effects by sequestering splicing cofactors.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • nuclear speck |
| • protein binding | • alternative mRNA splicing |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
SRRM5 is a 305-amino acid protein containing an N-terminal RNA recognition motif (RRM) and a C-terminal serine/arginine-rich (RS) domain. It shuttles between nuclear speckles and the nucleoplasm, facilitating spliceosome assembly. The RRM domain binds specific pre-mRNA sequences, while the RS domain mediates protein-protein interactions with other splicing factors. Post-translational phosphorylation of the RS domain regulates its subcellular localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRRM5 Knockout HEK293 Cell Line | EDJ-KQ15513 | Human | 100170229 | Details Get a Quote |
| SRRM5 Knockout A-549 Cell Line | EDJ-KQ46326 | Human | 100170229 | Details Get a Quote |
| SRRM5 Knockout HCT 116 Cell Line | EDJ-KQ46327 | Human | 100170229 | Details Get a Quote |
| SRRM5 Knockout HeLa Cell Line | EDJ-KQ46328 | Human | 100170229 | Details Get a Quote |
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