CHMP1A Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
CHMP1A
Official Name
charged multivesicular body protein 1A [Source:HGNC Symbol;Acc:HGNC:8740]
Ensembl ID
ENSG00000131165
Bio databases IDs NCBI: 5119 Ensembl: ENSG00000131165
Aliases charged multivesicular body protein 1A
Synonyms 2900018H07Rik, charged multivesicular body protein 1A, CHMP1, METALLOPEPTIDASE 1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHMP1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • metallopeptidase
  • zinc ion binding
  • peptidase
  • protein homodimerization
  • protein domain specific binding
  • protein binding
  • identical protein binding
  • Snf7

Pathways

Biological processes and signaling networks where the CHMP1A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • epithelial cancer
  • pontocerebellar hypoplasia type 8
  • sunburn
  • schizophrenia
  • osteoarthritis
  • epithelial basal cell carcinoma
  • hereditary disorder
  • nicotine dependence
  • non-syndromic congenital pontocerebellar hypoplasia
regulated by
regulates
role in cell
  • growth
  • production in
  • quantity
  • fusion
  • assembly
  • organization
  • autophagy by
  • duplication
  • ferroptosis
  • distribution in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • endomembrane system
  • Cytoplasm
  • perinuclear region
  • Nucleus
  • Plasma Membrane
  • centrosome
  • midbody
  • microtubule organizing centers
  • cytosol
  • lysosome membrane
  • endosomal membrane
  • chromosome
  • nuclear pores
  • nucleoplasm
  • nuclear scaffolds
  • nuclear matrix
  • autophagic vacuoles
  • early endosomes
  • multivesicular bodies
  • kinetochore microtubule
  • kinetochores

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CHMP1A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • membrane fission
  • mitotic chromosome condensation
  • protein transport
  • late endosome to vacuole transport
  • nucleus organization
  • cell division
  • negative regulation of gene expression
  • vesicle-mediated transport
  • non-lytic virus budding from plasma membrane
  • regulation of centrosome duplication
  • plasma membrane repair
  • ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
  • autophagy
  • endosome transport via multivesicular body sorting pathway
  • multivesicular body sorting pathway
  • nuclear envelope reassembly
  • mitotic metaphase plate congression
  • vesicle fusion with vacuole

Cellular Component

Where in the cell the gene product is active
  • ESCRT III complex
  • multivesicular body
  • kinetochore
  • plasma membrane
  • autophagic vacuole membrane
  • lysosomal membrane
  • nuclear pore
  • condensed nuclear chromosome
  • early endosome
  • extracellular vesicular exosome
  • microtubule organizing center
  • kinetochore microtubule
  • endomembrane system
  • cytosol
  • nuclear matrix
  • multivesicular body membrane
  • midbody

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • identical protein binding
  • protein domain specific binding
  • protein binding
  • protein homodimerization activity
  • metallopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.