HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FEM1A
fem-1 homolog A
Chromosome 19 · 19p13.3
NCBI Gene: 55527Ensembl: ENSG00000141965.5HGNC: HGNC:16934UniProt: Q9BSK4
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingEP4 subtype prostaglandin E2 receptor bindingmolecular adaptor activityubiquitin-like ligase-substrate adaptor activityhypothyroidismcolitisLynch syndromeinflammatory bowel disease
✦AI Summary

FEM1A functions as a substrate-recognition component of a CUL2-RING E3 ubiquitin ligase complex that mediates protein degradation through the C-degron pathway 1. The protein contains six ankyrin repeat elements in its N-terminal region, similar to signaling and transcriptional regulatory molecules 2. FEM1A specifically targets proteins for ubiquitination and degradation, including the stem-loop binding protein (SLBP), which regulates histone mRNA metabolism 1. This regulatory function appears evolutionarily conserved, as FEM1A orthologues interact with SLBP in C. elegans and D. melanogaster 1. The gene shows tissue-specific expression patterns, being highly expressed in kidney and cardiac tissue, with lower expression in multiple other tissues including skeletal muscle 2. FEM1A has clinical relevance in several diseases: it is consistently downregulated in rhabdomyosarcoma cell lines and mouse models, suggesting involvement in skeletal muscle differentiation defects 3. Additionally, FEM1A variants are associated with polycystic ovary syndrome (PCOS), with specific polymorphisms linked to hyperandrogenism and insulin resistance 4 5. The protein is also identified as a prognostic marker in gastric cancer 6. These findings indicate FEM1A plays important roles in cellular differentiation, metabolic regulation, and disease pathogenesis.

Sources cited
1
FEM1A functions as substrate-recognition component of CUL2-RING E3 ubiquitin ligase complex and targets SLBP for degradation
PMID: 28118078
2
FEM1A contains six ankyrin repeat elements and is highly expressed in kidney and cardiac tissue
PMID: 11733146
3
FEM1A is downregulated in rhabdomyosarcoma cell lines and mouse models
PMID: 16254458
4
FEM1A variants are associated with polycystic ovary syndrome
PMID: 18757445
5
Specific FEM1A polymorphisms are linked to hyperandrogenism and insulin resistance in PCOS patients
PMID: 22678803
6
FEM1A is identified as a prognostic marker in gastric cancer
PMID: 41085794
Disease Associationsⓘ20
hypothyroidismOpen Targets
0.09Suggestive
colitisOpen Targets
0.07Suggestive
Lynch syndromeOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.07Suggestive
hereditary mixed polyposis syndromeOpen Targets
0.06Suggestive
Familial adenomatous polyposisOpen Targets
0.06Suggestive
familial adenomatous polyposis 2Open Targets
0.06Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.06Suggestive
Hirschsprung diseaseOpen Targets
0.06Suggestive
Constitutional mismatch repair deficiency syndromeOpen Targets
0.06Suggestive
Desmoid-type fibromatosisOpen Targets
0.06Suggestive
fibromatosisOpen Targets
0.06Suggestive
familial adenomatous polyposis 4Open Targets
0.06Suggestive
attenuated familial adenomatous polyposisOpen Targets
0.06Suggestive
familial adenomatous polyposis 3Open Targets
0.06Suggestive
esophageal adenocarcinomaOpen Targets
0.06Suggestive
congenital diarrhea 5 with tufting enteropathyOpen Targets
0.06Suggestive
Intestinal epithelial dysplasiaOpen Targets
0.06Suggestive
AXIN2-related attenuated familial adenomatous polyposisOpen Targets
0.05Suggestive
Li-Fraumeni syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRAMEF6Protein interaction94%ELOBProtein interaction93%CUL2Protein interaction93%ZER1Protein interaction93%KLHDC10Protein interaction93%PRAMEProtein interaction93%
Tissue Expression6 tissues
Brain
100%
Lung
17%
Ovary
13%
Liver
10%
Heart
10%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
FEM1APRAMEF6ELOBCUL2ZER1KLHDC10PRAME
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BSK4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF1.13 [0.39–1.90]
RankingsWhere FEM1A stands among ~20K protein-coding genes
  • #10,477of 20,598
    Most Researched38
  • #17,255of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedFEM1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene.
PMID: 11733146
Gene · 2001
1.00
2
Sequence, organization, and expression of the human FEM1B gene.
PMID: 10623617
Biochem Biophys Res Commun · 2000
0.90
3
FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome.
PMID: 18757445
Hum Reprod · 2008
0.80
4
FEM1 proteins are ancient regulators of SLBP degradation.
PMID: 28118078
Cell Cycle · 2017
0.70
5
The Fem1a gene is downregulated in Rhabdomyosarcoma.
PMID: 16254458
Tumour Biol · 2005
0.60