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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAD2L1BP
MAD2L1 binding protein
Chromosome 6 · 6p21.1
NCBI Gene: 9587Ensembl: ENSG00000124688.15HGNC: HGNC:21059UniProt: Q15013
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of exit from mitosisdeactivation of mitotic spindle assembly checkpointnucleusAbnormality of the skeletal systeminterstitial lung diseasehereditary spastic paraplegiasmoking initiation
✦AI Summary

MAD2L1BP (also known as p31comet) is a critical regulator of the spindle assembly checkpoint (SAC) that functions to silence the checkpoint and allow mitosis to proceed through anaphase 1. The protein mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes, promoting timely SAC silencing and faithful chromosome 6 1. Mechanistically, MAD2L1BP binds MAD2 after it dissociates from the MAD2-CDC20 complex and recruits the AAA+-ATPase TRIP13 to disassemble the mitotic checkpoint complex (MCC), enabling cell-cycle progression 2. The protein undergoes linear ubiquitination by the E3 ligase HOIP at C-terminal lysine residues following cytokine stimulation, which positively regulates its function by reducing PLK1 binding 3. Human mutations in MAD2L1BP cause severe phenotypes including mosaic variegated aneuploidy, juvenile granulosa cell tumors, epileptic encephalopathy, and female infertility due to oocyte maturation arrest 12. Functionally defective variants lose binding ability to MAD2 and TRIP13, cannot support SAC silencing, and result in prolonged mitotic duration 12. The protein also contributes to homology-directed repair of DNA double-strand breaks and insulin signaling, highlighting its broader cellular functions beyond mitotic regulation 1.

Sources cited
1
MAD2L1BP mediates Trip13-dependent disassembly of Mad2-containing complexes and promotes SAC silencing; human mutations cause aneuploidy and tumor predisposition
PMID: 37796616
2
MAD2L1BP binds MAD2 and recruits TRIP13 to disassemble MCC for cell-cycle progression; mutations cause oocyte maturation arrest
PMID: 37334967
3
MAD2L1BP undergoes linear ubiquitination by HOIP which positively regulates its function by reducing PLK1 binding
PMID: 40462232
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
interstitial lung diseaseOpen Targets
0.03Suggestive
hereditary spastic paraplegiaOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
female infertilityOpen Targets
0.02Suggestive
granulosa cell tumorOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Epstein-Barr virus infectionOpen Targets
0.01Suggestive
Herpes simplex infectionOpen Targets
0.01Suggestive
deafnessOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
chronic inflammatory demyelinating polyneuropathyOpen Targets
0.00Suggestive
hereditary motor and sensory neuropathyOpen Targets
0.00Suggestive
axonal neuropathyOpen Targets
0.00Suggestive
spinal muscular atrophyOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
Miller Fisher syndromeOpen Targets
0.00Suggestive
severe malarial anemiaOpen Targets
0.00Suggestive
skin cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC20Protein interaction100%MAD2L1Protein interaction100%TRIP13Protein interaction100%BUB1BProtein interaction93%MAD1L1Protein interaction83%INPP5KProtein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
66%
Liver
42%
Lung
37%
Brain
34%
Ovary
24%
Gene Interaction Network
Click a node to explore
MAD2L1BPCDC20MAD2L1TRIP13BUB1BMAD1L1INPP5K
PROTEIN STRUCTURE
Preparing viewer…
PDB2QYF · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.54–1.07]
RankingsWhere MAD2L1BP stands among ~20K protein-coding genes
  • #6,730of 20,598
    Most Researched70
  • #10,817of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedMAD2L1BP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-tiered chemical proteomic maps of tryptoline acrylamide-protein interactions in cancer cells.
PMID: 39138346
Nat Chem · 2024
1.00
2
Linear ubiquitination of p31
PMID: 40462232
Cell Biosci · 2025
0.90
3
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
PMID: 37796616
JCI Insight · 2023
0.80
4
Biallelic variants in
PMID: 37334967
Elife · 2023
0.70
5
Lamina Associated Polypeptide 1 (LAP1) Interactome and Its Functional Features.
PMID: 26784240
Membranes (Basel) · 2016
0.60