Target Atlas

Computational Target Profile

FAM111B

IDG Tbio

A predicted trypsin-like serine protease behind a dominant multisystem disease, characterised without an experimental structure.

The rare-disease enzyme with a predicted catalytic triad and no crystal to check it against. Dominant FAM111B mutations cause POIKTMP — a multisystem disorder of skin, tendon, muscle and lung — and the same protease has been reported as a p53-driven player in lung adenocarcinoma, yet the PDB is empty. We resolve the canonical 734-residue sequence into a topology, a residue-level active-site hypothesis, post-translational features and a construct / validation plan, computed with Orbion's Astra suite from sequence alone.

UniProt Q6SJ93 ·AFDB AF-Q6SJ93-F1 ·734 aa·Trypsin-like serine protease (predicted)·PDB: none
At a Glance
Fold
Soluble, single-chain protein; predicted trypsin-like serine-protease fold; no transmembrane segments.
Active Site
The UniProt-annotated His490–Asp544–Ser650 charge-relay triad — the functional site. AstraBIND's retrieval-based detector found no ligand-bound relative and did not recover it, so we defer to the annotation (a useful negative control).
Clean Signal
No amyloidogenic segments predicted — a clean aggregation profile for construct design.
Prediction Confidence
Enzyme Class
0.86
Hydrolases (EC-3)
0.82

Model-reported confidence for the headline calls (amber = the load-bearing prediction the rest of the profile builds on). These are model-estimated probabilities that rank and gate each call — not calibrated rates of experimental success.

The Gap

Why This Target Is Still Dark

Most tractable protein families have been structurally explored; FAM111B has not. It is an IDG Tbio serine protease with no experimental structure in the PDB and a thin primary literature. What makes the gap matter is the biology on either side of it: dominant FAM111B mutations cause POIKTMP — hereditary fibrosing poikiloderma with tendon contractures, myopathy and progressive pulmonary fibrosis — while in oncology it has been reported as a direct p53 target that drives lung adenocarcinoma. A disease gene and a candidate oncology target, and still no fold to reason over.

That combination — genuine disease relevance, near-zero structural information — is where prediction earns its keep: everything below is computed from the canonical 734-residue sequence with Orbion's Astra suite, with no experimental FAM111B structure used as input. For a genuine orphan, there is nothing to look up.

Architecture & Topology

How the Sequence Is Organised

ElementResiduesNote
Chain1–734Single-chain; see disorder profile and pocket below.
Per-Residue Disorder
00.511200400600734
Disordered Regions Shaded in Amber · Dashed Line = 0.5 Call Threshold · the Natural Truncation Boundaries for Construct Design

The Predicted Pocket

The Annotated Catalytic Triad

For FAM111B the functional site is annotated, not predicted: UniProt places a His490–Asp544–Ser650 charge-relay triad. This target is also a useful negative control for the pocket detector — AstraBIND had no ligand-bound relative to retrieve from and returned a surface that does not overlap the triad, so we report the annotated active site rather than an invented pocket. Protease activity itself is a sequence-based inference, not experimentally confirmed here.

Site: Trypsin-like serine-protease charge-relay triad (UniProt)

Pocket-Lining Residues
Catalytic triad490 (His), 544 (Asp), 650 (Ser)

Post-Translational & Structural Features

Specific, Testable Residues

  • Catalytic residue Charge relay system (position 490). UniProt-annotated active site — one of three charge-relay residues that together form the His–Asp–Ser catalytic triad of a trypsin-like serine protease.
  • Catalytic residue Charge relay system (position 544). UniProt-annotated active site — the second member of the predicted triad; the geometry of all three is what a structure would need to confirm.
  • Catalytic residue Charge relay system (position 650). UniProt-annotated active site — the third triad residue; the trio (490 / 544 / 650) is the signature that classes FAM111B as a serine protease.
  • No amyloidogenic segments predicted. AstraUNFOLD flags no aggregation-prone stretch — a clean profile for recombinant expression and construct design.

Recommended Experimental Follow-Up

An Orphan Sequence, Turned Into a Ranked Plan

Each prediction is paired with the experiment that would test it and the readout to watch for.

PredictionExperimentReadout
Unknown physiological substrate(s)Activity-based protein profiling / N-terminomics in FAM111B-active cellsIdentify the cleaved substrates that define its pathway
Catalytic Triad (charge Relay 490 / 544 / 650)Serine → alanine active-site mutant + protease-activity assayLoss of proteolysis — confirms the serine-protease call
Disordered Termini (1–32, 712–734)N- and C-terminal truncation to the folded coreImproved expression and amenability to crystallography / cryo-EM

Scope & Limitations

What This Is — and Isn't

  • Prediction, not experiment. These are computational hypotheses to prioritise experiments — not a structure or an assay. Nothing here is wet-lab validated.
  • The pocket is predicted; the ligand is not named. AstraBIND is retrieval-based; the honest output is a residue-level hypothesis, not a proven druggable site or a validated binder.
  • The enzyme call is itself an inference. FAM111B is annotated as a serine protease with a His–Asp–Ser charge-relay triad, but its physiological substrates are unknown, and the links to POIKTMP and to lung adenocarcinoma rest on genetics and expression studies rather than a worked-out mechanism. Treat both the protease identity and the disease rationale as hypotheses.

All predictions were generated with Orbion's Astra suite from the canonical FAM111B sequence (UniProt Q6SJ93), using AlphaFold-derived structural features. Reported values are model outputs; model internals are out of scope.

References

  1. [1]UniProt Consortium. UniProtKB entry Q6SJ93 (FAM111B, human). uniprot.org.
  2. [2]Pharos (Illuminating the Druggable Genome). FAM111B target record — Tbio. pharos.nih.gov.
  3. [3]Mercier S et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (2013). https://doi.org/10.1016/j.ajhg.2013.10.013
  4. [4]Sun H et al. FAM111B, a direct target of p53, promotes the malignant process of lung adenocarcinoma. (2019). https://doi.org/10.2147/ott.s190934
  5. [5]Kawasaki K et al. FAM111B enhances proliferation of KRAS-driven lung adenocarcinoma by degrading p16. (2020). https://doi.org/10.1111/cas.14483

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