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.

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 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
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