FEM1B: A Key Regulator of Apoptosis and Cell Cycle
Comprehensive gene information for FEM1B, including function, expression, and disease associations.
Gene Information Card
| Symbol | FEM1B |
|---|---|
| Full Name | fem-1 homolog B |
| Gene Type | protein-coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 10116 ncbi.nlm.nih.gov/gene/10116 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9UK73 |
| OMIM ID | 609399 |
| HGNC ID | 16985 |
| Aliases | FEM1B, FEM1B_HUMAN, KIAA0396 |
Description
FEM1B (fem-1 homolog B) is a protein-coding gene that encodes a component of the anaphase-promoting complex/cyclosome (APC/C) and plays a critical role in regulating apoptosis and cell cycle progression. It functions as a substrate recognition subunit for the E3 ubiquitin ligase complex, targeting proteins for proteasomal degradation. FEM1B is involved in the control of mitotic exit and programmed cell death, and its dysregulation has been implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of FEM1B may alter APC/C activity, affecting cell cycle control and apoptosis, contributing to tumorigenesis. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Impaired FEM1B function may disrupt protein degradation pathways, leading to accumulation of toxic proteins. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.5 | Lung cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1016C>T (p.Pro339Leu) | Missense | <0.1% | Unknown functional effect |
| c.1243G>A (p.Val415Met) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FEM1B are predicted to impair APC/C substrate recognition, leading to cell cycle arrest or apoptosis defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FEM1B.
Dominant Negative (DN)
Dominant-negative effects have not been described for FEM1B.
View complete mutation data:
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • anaphase-promoting complex binding |
| • cell cycle | • apoptotic process |
| • protein ubiquitination |
Pathways
• Cell Cycle
• Mitotic
• APC/C-mediated degradation of cell cycle proteins
• Apoptosis
Protein Summary
The FEM1B protein is a 669-amino acid member of the FEM1 family, containing an N-terminal domain involved in substrate recognition and a C-terminal domain that interacts with the APC/C core complex. It is ubiquitously expressed with higher levels in testis and brain. The protein is localized to the nucleus and cytoplasm and is essential for proper mitotic progression and apoptosis induction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FEM1B Knockout HEK293 Cell Line | EDJ-KQ6902 | Human | 10116 | Details Get a Quote |
| FEM1B Knockout A-549 Cell Line | EDJ-KQ31521 | Human | 10116 | Details Get a Quote |
| FEM1B Knockout HCT 116 Cell Line | EDJ-KQ31522 | Human | 10116 | Details Get a Quote |
| FEM1B Knockout HeLa Cell Line | EDJ-KQ31523 | Human | 10116 | Details Get a Quote |