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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHMP1A
charged multivesicular body protein 1A
Chromosome 16 Β· 16q24.3
NCBI Gene: 5119Ensembl: ENSG00000131165.16HGNC: HGNC:8740UniProt: A0A6Q8PFX8
86PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitotic metaphase chromosome alignmentnegative regulation of gene expressionprotein bindinglate endosome to lysosome transportpontocerebellar hypoplasia type 8hypertensionviral diseasepontocerebellar hypoplasia
✦AI Summary

CHMP1A is a peripheral component of the ESCRT-III complex involved in multivesicular body (MVB) formation and endosomal cargo sorting 1. It mediates trafficking of ubiquitinylated proteins to lysosomes for degradation and functions in membrane fission events including cytokinesis and viral budding 2. CHMP1A is recruited to autophagosomes during mitophagy, where it facilitates phagophore closure alongside VPS4A 2. Beyond canonical ESCRT functions, CHMP1A participates in Rab11a-exosome biogenesis in recycling endosomes, particularly under nutrient stress 3. Clinically, CHMP1A functions as a tumor suppressor across multiple cancer types. In pancreatic ductal tumor cells, CHMP1A overexpression inhibits cell growth through p53-dependent mechanisms 1. In renal cell carcinoma, CHMP1A suppresses tumor growth via the PI3K/mTOR/p53 signaling pathway 4. CHMP1A is also implicated in neurodegenerative disease: genetic variants in CHMP1A have been identified in late-onset Parkinson's disease families with predicted pathogenic effects 56. Additionally, CHMP1A dysregulation is associated with fibrotic complications in Crohn's disease 7. Disease-associated mutations in CHMP1A cause pontocerebellar hypoplasia 8, highlighting its essential developmental role.

Sources cited
1
CHMP1A functions as a tumor suppressor in pancreatic and kidney cells; overexpression increases p53 levels and inhibits tumor growth
PMID: 18787405
2
CHMP1A is recruited to autophagosomes during CSFV-induced mitophagy and mediates phagophore closure with VPS4A
PMID: 40574328
3
CHMP1A is an accessory ESCRT-III protein required for Rab11a-exosome formation in recycling endosomes
PMID: 36872252
4
CHMP1A suppresses renal cell carcinoma growth through PI3K/mTOR/p53 pathway regulation
PMID: 35583792
5
CHMP1A variants identified as candidate genes for late-onset Parkinson's disease with significant excess of deleterious variants in patients
PMID: 34148545
6
CHMP1A listed among novel PD-related genes identified since 2019, though pathogenic evidence remains inconclusive
PMID: 37222843
7
CHMP1A identified as a regulator of fibrotic complications in Crohn's disease
PMID: 36720220
8
CHMP1A expression is significantly lower in renal cell carcinoma tissues; overexpression inhibits renal tumor proliferation
PMID: 22261332
Disease Associationsβ“˜21
pontocerebellar hypoplasia type 8Open Targets
0.75Strong
hypertensionOpen Targets
0.52Moderate
viral diseaseOpen Targets
0.46Moderate
pontocerebellar hypoplasiaOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.41Moderate
essential hypertensionOpen Targets
0.39Weak
osteoarthritisOpen Targets
0.33Weak
chronic rhinosinusitisOpen Targets
0.27Weak
Non-syndromic pontocerebellar hypoplasiaOpen Targets
0.27Weak
pontocerebellar hypoplasia type 1AOpen Targets
0.27Weak
asthmaOpen Targets
0.24Weak
skin cancerOpen Targets
0.22Weak
goutOpen Targets
0.21Weak
actinic keratosisOpen Targets
0.19Weak
hair colorOpen Targets
0.18Weak
basal cell carcinomaOpen Targets
0.16Weak
skin neoplasmOpen Targets
0.14Weak
carpal tunnel syndromeOpen Targets
0.12Weak
Pontocerebellar hypoplasia 8UniProt
Pathogenic Variants5
NM_002768.5(CHMP1A):c.28-13G>APathogenic
Pontocerebellar hypoplasia type 8|not provided
β˜…β˜…β˜†β˜†2025
NM_002768.5(CHMP1A):c.34del (p.Ala12fs)Likely pathogenic
Pontocerebellar hypoplasia type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 12
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)Likely pathogenic
Pontoneocerebellar hypoplasia
β˜…β˜†β˜†β˜†2023β†’ Residue 91
NM_002768.5(CHMP1A):c.19del (p.Gln7fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 7
NM_002768.5(CHMP1A):c.28-2A>GLikely pathogenic
Pontocerebellar hypoplasia type 8
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
PDCD6IPProtein interaction100%STAMBPProtein interaction100%VPS25Protein interaction97%RNF103-CHMP3Protein interaction97%TSG101Protein interaction97%SNF8Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
94%
Bone Marrow
90%
Ovary
82%
Heart
74%
Brain
64%
Gene Interaction Network
Click a node to explore
CHMP1APDCD6IPSTAMBPVPS25RNF103-CHMP3TSG101SNF8
PROTEIN STRUCTURE
Preparing viewer…
PDB4A5X Β· 1.91 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.04]
RankingsWhere CHMP1A stands among ~20K protein-coding genes
  • #5,534of 20,598
    Most Researched86
  • #3,535of 5,498
    Most Pathogenic Variants5
  • #10,429of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCHMP1A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The landscape of immune dysregulation in Crohn's disease revealed through single-cell transcriptomic profiling in the ileum and colon.
PMID: 36720220
Immunity Β· 2023
1.00
2
Classical swine fever virus hijacks ESCRT-III and VPS4A to promote phagophore closure for accelerating mitophagy.
PMID: 40574328
Autophagy Β· 2025
0.90
3
Chmp1A functions as a novel tumor suppressor gene in human embryonic kidney and ductal pancreatic tumor cells.
PMID: 18787405
Cell Cycle Β· 2008
0.80
4
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener Β· 2021
0.70
5
Recent advances in novel mutation genes of Parkinson's disease.
PMID: 37222843
J Neurol Β· 2023
0.60