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ProteomicsActivation of FAM111A Protease Induces Defects in Nuclear Function that Likely Underlie its Roles in Disease and Viral Restriction
Mutations in the nuclear trypsin-like serine protease FAM111A cause Kenny-Caffey syndrome (KCS2) with hypoparathyroidism and skeletal dysplasia, or perinatally lethal osteocraniostenosis (OCS). In addition, FAM111A was identified as a restriction factor for certain host range mutants of the SV40 pol...
ORGANISM(S): Homo sapiens (Human) 
2020-11-25 | PXD020327 | Pride
Fam111a Sv40polyomavirus Kcs2 Vacv Mass spectrometry Ocs 
GenomicsFAM111A is dispensable for electrolyte homeostasis in mice
FAM111A is dispensable for electrolyte homeostasis in mice
PRJNA805102 | ENA
TranscriptomicsFAM111A is dispensable for electrolyte homeostasis in mice
Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A...
ORGANISM(S): Mus musculus 
2022-02-13 | GSE196466 | GEO
ProteomicsFAM111A regulates replication origin activation and cell fitness
FAM111A is a replisome associated protein and dominant mutations within its trypsin-like peptidase domain are linked to severe human developmental syndrome, the Kenny-Caffey syndrome. However, FAM111A functions remain unclear. Here, we show that FAM111A facilitates efficient activation of DNA replic...
ORGANISM(S): Homo sapiens (Human) 
2023-10-03 | PXD044180 | Pride
Dna replication Developmental syndrome Peptidase Genome stability 
GenomicsAlteration in expression and subcellular localization of the androgen receptor-regulated FAM111A
Alteration in expression and subcellular localization of the androgen receptor-regulated FAM111A
PRJNA1209101 | ENA
TranscriptomicsAlteration in expression and subcellular localization of the androgen receptor-regulated FAM111A
The androgen receptor (AR) is a pivotal regulator of growth and proliferation of prostate cancer (PCa) and the majority of lethal castration-resistant prostate cancers (CRPC) remain reliant on AR signaling. PCa exhibits variability in progression and responses to treatment suggesting genetic heterog...
ORGANISM(S): Homo sapiens 
2025-06-18 | GSE286417 | GEO
UnknownN6 -methyladenosine-modified FAM111A-DT promotes hepatocellular carcinoma growth via epigenetically activating FAM111A.
Not available
S-EPMC10475779 | biostudies-literature
UnknownFAM111A is dispensable for electrolyte homeostasis in mice.
Not available
S-EPMC9205974 | biostudies-literature
UnknownFAM111A regulates replication origin activation and cell fitness.
Not available
S-EPMC10551639 | biostudies-literature
UnknownFAM111A induces nuclear dysfunction in disease and viral restriction.
Not available
S-EPMC7857424 | biostudies-literature
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