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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAU
FAU ubiquitin like and ribosomal protein S30 fusion
Chromosome 11 · 11q13.1
NCBI Gene: 2197Ensembl: ENSG00000149806.12HGNC: HGNC:3597UniProt: P62861
161PubMed Papers
20Diseases
6Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615cytosolnucleolusendoplasmic reticulumneurodegenerative diseaseinfluenzaDuchenne muscular dystrophycystic fibrosis
✦AI Summary

FAU is a ubiquitously expressed gene encoding a fusion protein of ribosomal protein S30 and a ubiquitin-like domain 1. As a structural component of the 40S ribosomal subunit, FAU contributes to ribosomal assembly and function in cytosolic translation 1. Beyond its canonical ribosomal role, FAU exhibits pro-apoptotic activity, with both human and marine sponge FAU homologues increasing apoptosis in cultured cells 2. The ubiquitin-like domain suggests FAU participates in protein ubiquitination and modification-dependent protein catabolism. FAU is significantly down-regulated in human prostate, breast, and ovarian cancers, with dysregulation associated with poor breast cancer prognosis 2. This cancer-associated dysregulation appears evolutionarily conserved, as FAU function in apoptosis and cancer biology is preserved across metazoans from early-branching sponges to mammals 2. These dual functions—ribosomal structural protein and apoptosis regulator—suggest FAU serves as a tumor suppressor, making it clinically relevant for cancer diagnosis and prognosis. The evolutionary conservation of FAU's cancer-related functions provides a framework for investigating its role in human carcinogenesis.

Sources cited
1
FAU encodes ribosomal protein S30 fused to ubiquitin-like protein; ubiquitously expressed as 600bp mRNA
PMID: 1326960
2
FAU is down-regulated in prostate, breast, and ovarian cancers with poor prognosis association; FAU exhibits pro-apoptotic activity conserved across metazoans
PMID: 26198235
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
influenzaOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
cystic fibrosisOpen Targets
0.39Weak
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
genetic disorderOpen Targets
0.09Suggestive
hepatitis B virus infectionOpen Targets
0.08Suggestive
Alport syndromeOpen Targets
0.07Suggestive
arthritisOpen Targets
0.07Suggestive
cystinosisOpen Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
Dravet syndromeOpen Targets
0.07Suggestive
epilepsyOpen Targets
0.07Suggestive
hemophilia AOpen Targets
0.07Suggestive
hemophilia BOpen Targets
0.07Suggestive
muscular dystrophyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets6
ATALURENApproved
80S Ribosome modulator
Duchenne muscular dystrophy
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
ELX-02Phase II
80S Ribosome modulator
cystic fibrosis
MT-3724Phase II
80S Ribosome inhibitor
diffuse large B-cell lymphoma
TELIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
hepatitis B virus infection
ZOLIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
arthritis
Related Genes
EIF5AProtein interaction100%EPRS1Protein interaction100%ETF1Protein interaction100%FANCEProtein interaction100%RPS14Protein interaction100%RPL12Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
61%
Lung
61%
Bone Marrow
59%
Brain
40%
Heart
37%
Gene Interaction Network
Click a node to explore
FAUEIF5AEPRS1ETF1FANCERPS14RPL12
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP · 1.67 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.20]
RankingsWhere FAU stands among ~20K protein-coding genes
  • #2,791of 20,598
    Most Researched161 · top quartile
  • #893of 1,025
    FDA-Approved Drug Targets1
  • #426of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedFAU
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Myokines and Resistance Training: A Narrative Review.
PMID: 35408868
Int J Mol Sci · 2022
1.00
2
Exercise Training Modulates Gut Microbiota Profile and Improves Endotoxemia.
PMID: 31425383
Med Sci Sports Exerc · 2020
0.90
3
Basophils in inflammation.
PMID: 25959388
Eur J Pharmacol · 2016
0.80
4
Assignment of the human FAU gene to a subregion of chromosome 11q13.
PMID: 8406491
Genomics · 1993
0.76
5
Functional and Structural Characterization of FAU Gene/Protein from Marine Sponge Suberites domuncula.
PMID: 26198235
Mar Drugs · 2015
0.70