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protein

Anaphase-promoting complex subunit 7

aka APC7

ANAPC7
protein:Q9UJX3disease:adad:direction:down

Gene

ANAPC7

Organism

Homo sapiens(9606)

Length

565 aa

Mass

63,133 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

ANAPC7 (Anaphase-promoting complex subunit 7) is a component of the APC/C, a cell cycle-regulated E3 ubiquitin ligase that mediates ubiquitination and degradation of cell cycle regulators (UniProt: Q9UJX3). The protein functions as an enzyme-substrate adapter that promotes the processive ubiquitination of specific targets, particularly mediating clearance of MKI67 during neuronal development. APC7 is involved in brain development through regulation of neuronal progenitor cell cycle exit.

Mutations in ANAPC7 cause Ferguson-Bonni neurodevelopmental syndrome (FERBON, MIM 619699), an autosomal recessive disorder characterized by global developmental delay, intellectual disability, and hypotonia with motor impairment (UniProt: Q9UJX3). The disease may also present with dysmorphic features, skeletal abnormalities, and hearing loss.

In Alzheimer's disease, ANAPC7 is significantly downregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). Analysis of human AD brain using quantitative proteomics across subcellular fractions revealed a mean log2 fold-change of −0.33, indicating reduced expression of this cell cycle regulatory protein in AD pathology.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↓ Down in AD

P3

-0.333

P2

not detected

S2

not detected

S3

not detected

Mean log₂FC across detected fractions: -0.3328 (1 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

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Function

Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle (PubMed:18485873). The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). The APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). APC7 is not required for the assembly of the APC/C complex, but has an enzyme-substrate adapter activity mediating the processive ubiquitination of specific substrates (PubMed:34942119). Involved in brain development through the specific ubiquitination and clearance of MKI67 from constitutive heterochromatin after neuronal progenitors exit mitosis (PubMed:34942119)

Disease associations

  • Ferguson-Bonni neurodevelopmental syndromeFERBON

    An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss.

Sources

Last updated 5/8/2026, 6:33:51 AM