SERF1B
Small EDRK-Rich Factor 1B
Gene Information Card
| Symbol | SERF1B |
|---|---|
| Full Name | Small EDRK-Rich Factor 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 116143 ncbi.nlm.nih.gov/gene/116143 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | Q8N5N7 |
| OMIM ID | 603011 |
| HGNC ID | 29488 |
| Aliases | H4F5, SERF1, SMN2 modifier |
Description
SERF1B (Small EDRK-Rich Factor 1B) is a protein-coding gene located on chromosome 5q13.2. It encodes a small protein rich in glutamate (E), aspartate (D), arginine (R), and lysine (K) residues. SERF1B is part of the SMN complex and has been implicated in modifying the severity of spinal muscular atrophy (SMA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy | Modifier of SMN2 splicing; SERF1B copy number variation influences SMA severity | PMID: 10441577 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0005737 (GO:0005737) |
| • GO:0042802 (GO:0042802) |
Pathways
• SMN complex assembly
Protein Summary
SERF1B encodes a small protein (approximately 8 kDa) rich in charged amino acids. It interacts with SMN1 and SMN2 proteins and may play a role in the assembly of the SMN complex, which is essential for spliceosomal snRNP biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERF1B Knockout HEK293 Cell Line | EDJ-KQ15228 | Human | 728492 | Details Get a Quote |
| SERF1B Knockout A-549 Cell Line | EDJ-KQ45890 | Human | 728492 | Details Get a Quote |
| SERF1B Knockout HCT 116 Cell Line | EDJ-KQ45891 | Human | 728492 | Details Get a Quote |
| SERF1B Knockout HeLa Cell Line | EDJ-KQ45892 | Human | 728492 | Details Get a Quote |
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