Component
Human cubilin G653R variant
Human patient variant; keep separate from engineered rat mini-cubilin bearing the analogous substitution.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
In the renal biopsy of the studied patient carrying CUBN G653R, cubilin and AMN localized with the ER marker instead of normal brush-border localization.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- experimental_model
- One IGS patient renal biopsy compared with a control biopsy
- exposure
- Patient CUBN G653R; co-occurring AMN P295S also reported
- limitations
- One patient; AMN P295S contribution was inconclusive. This tissue observation alone cannot assign all disease causality to G653R.
- nutrient_topic
- Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. · Vitamin B12 (cobalamins)
- organism
- Homo sapiens
- plain_language
- The patient receptor proteins accumulated inside kidney cells.
- primary_references
- [udagawa-2018-glycosylation] Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. (2018). https://pubmed.ncbi.nlm.nih.gov/29402915/ DOI: 10.1038/s41598-018-20731-4
- tissue_or_cell_type
- Human renal proximal tubular epithelium
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 348–359
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · One IGS patient renal biopsy compared with a control biopsy · source_derived_draft · unverified_draft
### b12-abs-human-g653r-er In the renal biopsy of the studied patient carrying CUBN G653R, cubilin and AMN localized with the ER marker instead of normal brush-border localization. Condition category: machinery_impairment nutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect. plain_language: The patient receptor proteins accumulated inside kidney cells. organism: Homo sapiens tissue_or_cell_type: Human renal proximal tubular epithelium experimental_model: One IGS patient renal biopsy compared with a control biopsy limitations: One patient; AMN P295S contribution was inconclusive. This tissue observation alone cannot assign all disease causality to G653R. exposure: Patient CUBN G653R; co-occurring AMN P295S also reported cross_nutrient: false [udagawa-2018-glycosylation] Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. (2018). https://pubmed.ncbi.nlm.nih.gov/29402915/ DOI: 10.1038/s41598-018-20731-4
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.