CHMP1A Gene

HGNC Family	Charged multivesicular body proteins (CHMP)
Name	charged multivesicular body protein 1A
Description	This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHMP1A is a multifunctional member of the ESCRT‐III family that plays diverse roles in both cytoplasmic membrane remodeling and nuclear signaling. In its canonical function, CHMP1A participates in the assembly and regulation of ESCRT‐III complexes by interacting with key partners such as VPS4 ATPases and the MIT‐domain–containing deubiquitinating enzyme UBPY. These interactions—mediated by conserved C‐terminal motifs—enable CHMP1A to contribute to membrane deformation processes that underlie multivesicular body formation, viral budding, and the final abscission steps during cytokinesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond these cytoplasmic roles, CHMP1A also functions within the nucleus to influence chromatin organization and gene expression. It has been shown to interface with chromatin‐modifying pathways—for example, by linking cytoplasmic signals to BMI1‐mediated repression of the cell cycle inhibitor INK4A—to regulate progenitor proliferation during brain development. Disruption of CHMP1A function in this context has been associated with neurodevelopmental defects such as microcephaly and pontocerebellar hypoplasia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, altered expression of CHMP1A has been implicated in tumorigenesis. Reduced CHMP1A expression correlates with increased cell proliferation and tumor formation in certain cancers, including renal cell carcinoma, indicating that CHMP1A can function as a tumor suppressor."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Regulation of CHMP1A is further refined by post‐translational modifications (such as phosphorylation at defined C‐terminal serine residues) and by microRNA‐mediated control. For instance, miR‐17 directly targets CHMP1A to modulate the balance between proliferation and differentiation in progenitor cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In addition, chimeric transcripts involving CHMP1A have been detected, suggesting complex layers of its regulation at the RNA level."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies underscore the dual role of CHMP1A in coordinating endosomal sorting and membrane scission processes with nuclear events that govern cell proliferation and chromatin state, highlighting its importance in both normal development and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Melissa D Stuchell-Brereton, Jack J Skalicky, Collin Kieffer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ESCRT-III recognition by VPS4 ATPases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature06172"}], "href": "https://doi.org/10.1038/nature06172"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17928862"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17928862"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Paula E Row, Han Liu, Sebastian Hayes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M704009200"}], "href": "https://doi.org/10.1074/jbc.M704009200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17711858"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17711858"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ritesh Tandon, David P AuCoin, Edward S Mocarski "}, {"type": "b", "children": [{"type": "t", "text": "Human cytomegalovirus exploits ESCRT machinery in the process of virion maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Virol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/JVI.01093-09"}], "href": "https://doi.org/10.1128/JVI.01093-09"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19640981"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19640981"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ganeshwaran H Mochida, Vijay S Ganesh, Maria I de Michelena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2425"}], "href": "https://doi.org/10.1038/ng.2425"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23023333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23023333"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuki Maemoto, Hideki Shibata, Masatoshi Maki "}, {"type": "b", "children": [{"type": "t", "text": "Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biosci Biotechnol Biochem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1271/bbb.130065"}], "href": "https://doi.org/10.1271/bbb.130065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23748770"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23748770"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhenqiang You, Yanfei Xin, Yan Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.canlet.2012.01.010"}], "href": "https://doi.org/10.1016/j.canlet.2012.01.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22261332"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22261332"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Na Sun, Dandan Zhang, Ni Ni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "miR-17 regulates the proliferation and differentiation of retinal progenitor cells by targeting CHMP1A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2019.11.108"}], "href": "https://doi.org/10.1016/j.bbrc.2019.11.108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31894018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31894018"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Wenwen Fang, Yong Wei, Yibin Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detection of a common chimeric transcript between human chromosomes 7 and 16."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Direct (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1745-6150-7-49"}], "href": "https://doi.org/10.1186/1745-6150-7-49"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23273016"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23273016"}]}]}]}
Synonyms	VPS46-1, VPS46A, PCOLN3, PRSM1, CHMP1, PCH8
Proteins	CHM1A_HUMAN
NCBI Gene ID	5119
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHMP1A has 6,628 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 117 datasets.

Click the + buttons to view associations for CHMP1A from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CHMP1A Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHMP1A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHMP1A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CHMP1A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CHMP1A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CHMP1A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHMP1A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CHMP1A gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHMP1A gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CHMP1A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHMP1A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CHMP1A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CHMP1A protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CHMP1A gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHMP1A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHMP1A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CHMP1A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CHMP1A gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CHMP1A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CHMP1A gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHMP1A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHMP1A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CHMP1A protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CHMP1A protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHMP1A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CHMP1A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CHMP1A protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHMP1A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHMP1A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHMP1A gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHMP1A gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHMP1A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CHMP1A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CHMP1A gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CHMP1A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CHMP1A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CHMP1A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHMP1A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHMP1A gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHMP1A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHMP1A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.