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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FAM111A
FAM111 trypsin like peptidase A
Chromosome 11 Β· 11q12.1
NCBI Gene: 63901Ensembl: ENSG00000166801.18HGNC: HGNC:24725UniProt: Q96PZ2
39PubMed Papers
22Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairProtease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
single-stranded DNA bindingprotein bindingchromatinnucleusosteocraniostenosisautosomal dominant Kenny-Caffey syndromeKenny-Caffey syndromeprostate carcinoma
✦AI Summary

FAM111A is a single-stranded DNA-binding serine protease that mediates proteolytic cleavage of DNA-protein cross-links (DPCs) during DNA synthesis, thereby maintaining genomic integrity 1. The protein protects replication forks from stalling by removing covalently trapped topoisomerase 1 and PARP1-DNA complexes 1, and is required for PCNA loading on replication sites and S-phase entry 2. FAM111A facilitates efficient activation of DNA replication origins 3. Beyond DNA repair, FAM111A functions as a restriction factor against poxviruses including vaccinia virus and mpox virus 4. Upon viral infection, FAM111A translocates to the cytoplasm and disrupts the nuclear pore complex via its protease activity, interacts with viral DNA-binding proteins, and promotes their degradation through autophagy 4. Poxviruses antagonize FAM111A through their serpin SPI-1, which directly inhibits FAM111A's protease activity via covalent complex formation 5. Disease-relevant mutations in FAM111A cause Kenny-Caffey syndrome type 2 and osteocraniostenosis, rare genetic disorders characterized by extreme short stature, bone abnormalities, hypoparathyroidism, and electrolyte disturbances 67. Both gain-of-function and loss-of-function FAM111A variants contribute to disease pathogenesis 7.

Sources cited
1
FAM111A is a single-stranded DNA-binding serine protease mediating DPC cleavage and protecting replication forks from stalling
PMID: 32165630
2
FAM111A is required for PCNA loading and promotes S-phase entry and DNA synthesis
PMID: 24561620
3
FAM111A facilitates efficient activation of DNA replication origins
PMID: 37793778
4
FAM111A restricts poxvirus replication by translocating to cytoplasm, disrupting nuclear pore complex, and promoting viral protein degradation via autophagy
PMID: 37607234
5
Poxvirus serpin SPI-1 directly inhibits FAM111A protease activity through covalent complex formation
PMID: 39798873
6
FAM111A mutations cause Kenny-Caffey syndrome type 2 with characteristic features of growth retardation, hypoparathyroidism, and electrolyte disturbances
PMID: 36916904
7
Biallelic and monoallelic FAM111A variants with varying degrees of activation cause dominant or recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis
PMID: 39932783
Disease Associationsβ“˜22
osteocraniostenosisOpen Targets
0.74Strong
autosomal dominant Kenny-Caffey syndromeOpen Targets
0.72Strong
Kenny-Caffey syndromeOpen Targets
0.62Moderate
prostate carcinomaOpen Targets
0.46Moderate
prostate cancerOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.38Weak
FAM111A-related skeletal dysplasiaOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
hypertrophic cardiomyopathyOpen Targets
0.34Weak
hypoparathyroidismOpen Targets
0.12Weak
congenital heart diseaseOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
viral diseaseOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
blood coagulation diseaseOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
dry eye syndromeOpen Targets
0.02Suggestive
Gracile bone dysplasiaUniProt
Kenny-Caffey syndrome 2UniProt
Pathogenic Variants7
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)Pathogenic
Autosomal dominant Kenny-Caffey syndrome|not provided|Osteocraniostenosis|Inborn genetic diseases|Autosomal dominant Kenny-Caffey syndrome;Osteocraniostenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 569
NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del)Pathogenic
Osteocraniostenosis|not provided|Autosomal dominant Kenny-Caffey syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 343
NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr)Pathogenic
Osteocraniostenosis|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 527
NM_001312909.2(FAM111A):c.1685A>C (p.Tyr562Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 562
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe)Likely pathogenic
Osteocraniostenosis
β˜…β˜†β˜†β˜†2020β†’ Residue 311
NM_001312909.2(FAM111A):c.1583A>G (p.Asp528Gly)Pathogenic
Osteocraniostenosis
β˜†β˜†β˜†β˜†2013β†’ Residue 528
NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala)Pathogenic
Osteocraniostenosis
β˜†β˜†β˜†β˜†2013β†’ Residue 338
View on ClinVar β†—
Related Genes
TBCEProtein interaction95%SPRTNShared pathway33%TRAIPShared pathway30%FAM111BShared pathway29%BOD1L1Shared pathway29%GCNAShared pathway29%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
86%
Liver
62%
Ovary
59%
Heart
36%
Brain
15%
Gene Interaction Network
Click a node to explore
FAM111ATBCESPRTNTRAIPFAM111BBOD1L1GCNA
PROTEIN STRUCTURE
Preparing viewer…
PDB8S9L Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.89LoF Tolerant
pLIβ“˜
0.16Tolerant
Observed/Expected LoF0.97 [0.26–1.89]
RankingsWhere FAM111A stands among ~20K protein-coding genes
  • #10,319of 20,598
    Most Researched39
  • #3,233of 5,498
    Most Pathogenic Variants7
  • #17,179of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedFAM111A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human FAM111A inhibits vaccinia virus replication by degrading viral protein I3 and is antagonized by poxvirus host range factor SPI-1.
PMID: 37607234
Proc Natl Acad Sci U S A Β· 2023
1.00
2
Triad of human cellular proteins, IRF2, FAM111A, and RFC3, restrict replication of orthopoxvirus SPI-1 host-range mutants.
PMID: 28320935
Proc Natl Acad Sci U S A Β· 2017
0.90
3
Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
PMID: 38474092
Int J Mol Sci Β· 2024
0.80
4
Poxvirus Host-Range Determinants: SAMD9/9L and Beyond.
PMID: 40403300
Annu Rev Virol Β· 2025
0.70
5
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
PMID: 36916904
J Clin Endocrinol Metab Β· 2023
0.60