FEM1A
Fem-1 Homolog A (Apoptosis Regulator)
Gene Information Card
| Symbol | FEM1A |
|---|---|
| Full Name | Fem-1 Homolog A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 55568 ncbi.nlm.nih.gov/gene/55568 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9BSK4 |
| OMIM ID | 609399 |
| HGNC ID | 16934 |
| Aliases | FEM1, EPRAP, FLJ20637 |
Description
FEM1A encodes a protein that functions as a component of the anaphase-promoting complex/cyclosome (APC/C) and is involved in the regulation of apoptosis. It acts as a substrate recognition subunit for the E3 ubiquitin ligase complex, targeting proteins for proteasomal degradation. The gene is located on chromosome 19p13.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect apoptosis regulation via ubiquitin-mediated degradation | COSMIC, literature |
| Neurodegenerative disorders | Potential role in protein homeostasis and cell death pathways | Inferred from function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| K562 | 6.5 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown significance |
| c.205G>A (p.Glu69Lys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair APC/C substrate recognition
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • apoptotic process |
| • cell cycle | • protein ubiquitination |
| • anaphase-promoting complex |
Pathways
• APC/C-mediated degradation of cell cycle proteins
• Ubiquitin-proteasome pathway
Protein Summary
FEM1A is a 669-amino acid protein containing an N-terminal domain and a C-terminal domain that mediates interaction with the APC/C complex. It serves as a substrate receptor for ubiquitination, targeting proteins such as BCL2 for degradation, thereby influencing apoptosis. Expression is highest in testis and brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FEM1A Knockout HEK293 Cell Line | EDJ-KQ13469 | Human | 55527 | Details Get a Quote |
| FEM1A Knockout HCT 116 Cell Line | EDJ-KQ43057 | Human | 55527 | Details Get a Quote |
| FEM1A Knockout HeLa Cell Line | EDJ-KQ43058 | Human | 55527 | Details Get a Quote |
| FEM1A Knockout A-549 Cell Line | EDJ-KQ65094 | Human | 55527 | Details Get a Quote |
| FEM1A Knockout C2C12 Cell Line | EDC07555 | Mouse | 14154 | Details Get a Quote |
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