Gene content    
CHMP1A ( by HUGO)
Charged Multivesicular Body Protein 1A
Tumor suppressor gene
Charged Multivesicular Body Protein 1A
PCOLN3
PRSM1
Chromatin Modifying Protein 1A
Procollagen (Type III) N-Endopeptidase
Vacuolar Protein Sorting-Associated Protein 46-1
CHMP1
PCH8
VPS46-1
VPS46A
Charged Multivesicular Body Protein 1/Chromatin Modifying Protein 1
Protease
Metallo
1
33kD
CHMP1a
KIAA0047
Vps46-1
Chromatin-Modifying Protein 1a
hVps46-1
NCBI: 16q24.3    Ensembl: 16q24.3
CHM1A_HUMANSize: 196 amino acidsMass: 21703 Da

  • Subunit: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1 Caution: Was originally (PubMed:8863740) thought to be a metalloprotease (PRSM1). This was based on a wrong translation of the ORF which gave rise to a putative protein of 318 AA containing a pattern reminiscent of zinc metalloproteases Sequence caution: Sequence=AAC50775.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAA07557.1; Type=Erroneous translation; Note=Wrong choice of frame;
  • Tissue specificity: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63 [IMAGE] Custom PCR Arrays for CHMP1A Primer Products: [IMAGE] OriGene qSTAR qPCR primer pairs in human, mouse for CHMP1A [IMAGE] Pre-validated RT2 qPCR Primer Assay in huma
  • Function:
    UniProtKB/Swiss-Prot Summary: CHM1A_HUMAN, Q9HD42 Function: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing
  • Similarity:
    Belongs to the SNF7 family [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR005024Snf7Snf7Family
    BlocksIPB005024Eukaryotic protein of unknown function DUF279Eukaryotic protein of unknown function DUF279

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cytokinesis IMP GOA 19129479
    gene silencing IDA GOA 11559747
    mitotic chromosome condensation IDA GOA 11559747
    negative regulation of transcription by glucose IDA GOA 9837962
    negative regulation of transcription, DNA-templated IDA GOA 11559747
    proteolysis TAS GOA 8863740
    vesicle-mediated transport IDA GOA 11559748
    Cellular Component condensed nuclear chromosome IDA GOA 11559747
    early endosome IDA GOA 11559748
    endomembrane system IDA GOA 11559748
    extracellular vesicular exosome IDA GOA 19056867
    microtubule organizing center IDA GOA 11559748
    nuclear matrix IDA GOA 11559747
    Molecular Function metallopeptidase activity TAS GOA 8863740
    protein binding IPI GOA 11559748
    protein domain specific binding IPI GOA 17928862
    protein homodimerization activity IPI GOA 14505570
    zinc ion binding TAS GOA 8863740

    Disorder & Mutation    
    Source Disease
    SWISS-PROTPontocerebellar hypoplasia 8 (PCH8) [MIM:614961]: An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry

    CHMP1A cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene