FAF1

Chr 1

Fas associated factor 1

Also known as: CGI-03, HFAF1s, UBXD12, UBXN3A, hFAF1

NCBI Gene: 11124ENSG00000185104UniProt: Q9UNN5OMIM: 604460

The protein functions as a ubiquitin-binding protein that regulates DNA replication by targeting the replication licensing factor CDT1 for degradation and can potentiate FAS-induced apoptosis. Mutations cause neurodevelopmental disorder with progressive microcephaly, spasticity, and brain atrophy, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants in the general population.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.25
Clinical Summary— FAF1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.25LOEUF
pLI 0.999
Z-score 5.29
OE 0.12 (0.06–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.13Z-score
OE missense 0.68 (0.62–0.76)
246 obs / 359.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.12 (0.06–0.25)
0≤0.351.4
Missense OE0.68 (0.62–0.76)
0≤0.61.4
Synonymous OE0.86
0≤1.21.6
LoF obs/exp: 5 / 41.9Missense obs/exp: 246 / 359.5Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The accessory adapters FAF1, FAF2, and UBXN7 accelerate proteasomal degradation by increasing prior p97-mediated substrate unfolding.
Kracht M et al.·Sci Adv
2026Open Access
Extracellular GMFB activates the non-canonical FAS-FAF1 pathway to induce lysosomal dysfunction in early diabetic retinopathy.
Liu C et al.·Int J Biol Macromol
2025
Evaluation of the role of circular RNA (circ-FAF1) as a diagnostic biomarker for breast cancer in a cohort of Egyptian breast cancer patients.
Abdellatif EM et al.·Mol Biol Rep
2025Cohort
VCP controls KCC2 degradation through FAF1 recruitment and accelerates emergence from anesthesia.
Chen P et al.·Proc Natl Acad Sci U S A
2025Open Access
Inhibition of circ_0073932 attenuates myocardial ischemia‒reperfusion injury via miR-493-3p/FAF1/JNK.
Su Y et al.·In Vitro Cell Dev Biol Anim
2024
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients