Seroatlas · Human Serome Atlas

FAM111A

Serine protease FAM111A

Also known as: F111A_HUMAN, FLJ22794, KIAA1895

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96PZ2
Gene
FAM111A
Ensembl
ENSG00000166801
Chromosome
11
Canonical length
611 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

611 residues, UniProt reviewed canonical sequence.

>Q96PZ2|FAM111A
     1  MSCKKQRSRK HSVNEKCNMK IEHYFSPVSK EQQNNCSTSL MRMESRGDPR ATTNTQAQRF
    61  HSPKKNPEDQ TMPQNRTIYV TLKVNHRRNQ DMKLKLTHSE NSSLYMALNT LQAVRKEIET
   121  HQGQEMLVRG TEGIKEYINL GMPLSCFPEG GQVVITFSQS KSKQKEDNHI FGRQDKASTE
   181  CVKFYIHAIG IGKCKRRIVK CGKLHKKGRK LCVYAFKGET IKDALCKDGR FLSFLENDDW
   241  KLIENNDTIL ESTQPVDELE GRYFQVEVEK RMVPSAAASQ NPESEKRNTC VLREQIVAQY
   301  PSLKRESEKI IENFKKKMKV KNGETLFELH RTTFGKVTKN SSSIKVVKLL VRLSDSVGYL
   361  FWDSATTGYA TCFVFKGLFI LTCRHVIDSI VGDGIEPSKW ATIIGQCVRV TFGYEELKDK
   421  ETNYFFVEPW FEIHNEELDY AVLKLKENGQ QVPMELYNGI TPVPLSGLIH IIGHPYGEKK
   481  QIDACAVIPQ GQRAKKCQER VQSKKAESPE YVHMYTQRSF QKIVHNPDVI TYDTEFFFGA
   541  SGSPVFDSKG SLVAMHAAGF AYTYQNETRS IIEFGSTMES ILLDIKQRHK PWYEEVFVNQ
   601  QDVEMMSDED L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM111A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 41 nTPM
  • thymus: 39 nTPM
  • lymph node: 34 nTPM
  • prostate: 32 nTPM
  • tonsil: 29 nTPM
  • small intestine: 26 nTPM

Single-cell type

  • monocyte progenitors: 236 nCPM
  • neutrophil progenitors: 121 nCPM
  • prostatic glandular cells: 96 nCPM
  • pituitary stem cells: 74 nCPM
  • megakaryocyte progenitors: 64 nCPM
  • sertoli cells: 58 nCPM

Immune cell

  • MAIT T-cell: 4.3 nTPM
  • NK-cell: 4.1 nTPM
  • classical monocyte: 3.8 nTPM
  • neutrophil: 3.8 nTPM
  • basophil: 3.7 nTPM
  • gdT-cell: 3.3 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • medulla oblongata: 11 nTPM
  • thalamus: 11 nTPM
  • white matter: 11 nTPM
  • spinal cord: 9.3 nTPM
  • hypothalamus: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM111A.

Disease | AllUniProt

Conditions FAM111A is implicated in, by any mechanism.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 363 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.95
gnomAD pLI
0
gnomAD missense Z
-0.02
DepMap mean gene effect
0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FAM111A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM111A as an antibody target. Whether an autoantibody or antibody against FAM111A could matter depends on whether native FAM111A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM111A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FAM111A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FAM111A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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