SCAF11
SR-Related CTD Associated Factor 11
Gene Information Card
| Symbol | SCAF11 |
|---|---|
| Full Name | SR-Related CTD Associated Factor 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 9293 ncbi.nlm.nih.gov/gene/9293 |
| Ensembl ID | ENSG00000139218 |
| UniProt ID | Q96IZ5 |
| OMIM ID | 609417 |
| HGNC ID | 10639 |
| Aliases | SRSF11, SFRS11, p54, SRp54 |
Description
SCAF11 (SR-Related CTD Associated Factor 11) encodes a member of the serine/arginine (SR) protein family, which plays a key role in pre-mRNA splicing. The protein contains an RNA recognition motif (RRM) and an SR domain, and interacts with the C-terminal domain (CTD) of RNA polymerase II. SCAF11 is involved in alternative splicing regulation and may influence cell cycle progression and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered splicing of oncogenes/tumor suppressors; SCAF11 overexpression or mutation may disrupt normal splicing patterns. | COSMIC; literature |
| Neurodegenerative disorders | Potential role in neuronal splicing regulation; dysregulation linked to tau and amyloid precursor protein splicing. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 9.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| K562 | 11.2 | Medium expression |
| HepG2 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1567G>A (p.Glu523Lys) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleotide binding |
| • mRNA splicing | • via spliceosome |
| • regulation of alternative mRNA splicing | • nucleus |
| • nuclear speck |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
SCAF11 is a 544-amino acid protein (UniProt Q96IZ5) with a molecular weight of ~59 kDa. It contains an N-terminal RNA recognition motif (RRM) and a C-terminal SR-rich domain. The protein localizes to nuclear speckles and interacts with the phosphorylated CTD of RNA polymerase II to facilitate spliceosome assembly and alternative splicing. SCAF11 is ubiquitously expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCAF11 Knockout HEK293 Cell Line | EDJ-KQ2716 | Human | 9169 | Details Get a Quote |
| SCAF11 Knockout A-549 Cell Line | EDJ-KQ23564 | Human | 9169 | Details Get a Quote |
| SCAF11 Knockout HCT 116 Cell Line | EDJ-KQ23565 | Human | 9169 | Details Get a Quote |
| SCAF11 Knockout HeLa Cell Line | EDJ-KQ23566 | Human | 9169 | Details Get a Quote |
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