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CHMP4C charged multivesicular body protein 4C [ Homo sapiens (human) ]

Gene ID: 92421, updated on 2-Nov-2024

Summary

Official Symbol
CHMP4Cprovided by HGNC
Official Full Name
charged multivesicular body protein 4Cprovided by HGNC
Primary source
HGNC:HGNC:30599
See related
Ensembl:ENSG00000164695 MIM:610899; AllianceGenome:HGNC:30599
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Shax3; SNF7-3; VPS32C
Summary
CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in duodenum (RPKM 19.0), small intestine (RPKM 14.8) and 19 other tissues See more
Orthologs
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Genomic context

See CHMP4C in Genome Data Viewer
Location:
8q21.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (81732448..81759515)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (82164151..82191202)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (82644683..82671750)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 10 member 5 Neighboring gene zinc finger AN1-type containing 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:82632569-82633513 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:82695196-82696395 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 36 Neighboring gene sorting nexin 16 Neighboring gene MPRA-validated peak7089 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:82753494-82754426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27586 Neighboring gene long intergenic non-protein coding RNA 2235 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:82777682-82778503 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:82796025-82796191 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:82807716-82808490 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:82810041-82810814

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Superresolution imaging of HIV-1 Gag and ESCRT proteins (TSG101, ALIX, CHMP4B, and CHMP4C) demonstrates in HeLa cells that Gag assemblages often has ESCRT proteins in their direct vicinity PubMed
gag VPS4A increases co-localization of HIV-1 Gag with the ESCRT proteins Chmp1b, Chmp4b, and Chmp4c at sites of HIV-1 assembly PubMed
p6 gag Overexpression of CHMP4A, CHMP4B or CHMP4C inhibits HIV-1 p6-Gag L-domain function and HIV-1 budding PubMed
gag HIV-1 p6-Gag interacts with CHMP4A, CHMP4B and CHMP4C proteins through a direct binding interaction with AIP1, a component of the viral budding machinery PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC22825

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in abscission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in late endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in macroautophagy TAS
Traceable Author Statement
more info
PubMed 
involved_in membrane fission NAS
Non-traceable Author Statement
more info
PubMed 
involved_in midbody abscission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic cytokinesis checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic metaphase chromosome alignment IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multivesicular body assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in multivesicular body assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in multivesicular body sorting pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in multivesicular body-lysosome fusion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear membrane reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in plasma membrane repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle budding from membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in vesicle fusion with vacuole NAS
Non-traceable Author Statement
more info
PubMed 
involved_in viral budding from plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in viral budding from plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in viral budding via host ESCRT complex IDA
Inferred from Direct Assay
more info
PubMed 
involved_in viral budding via host ESCRT complex TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of ESCRT III complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of ESCRT III complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of ESCRT III complex TAS
Traceable Author Statement
more info
PubMed 
located_in Flemming body IDA
Inferred from Direct Assay
more info
PubMed 
located_in amphisome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in autophagosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
located_in kinetochore microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in multivesicular body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in multivesicular body membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
charged multivesicular body protein 4c
Names
SNF7 homolog associated with Alix 3
Snf7 homologue associated with Alix 3
chromatin modifying protein 4C
chromatin-modifying protein 4c
hSnf7-3
hVps32-3
vacuolar protein sorting-associated protein 32-3
vps32-3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_152284.4NP_689497.1  charged multivesicular body protein 4c

    See identical proteins and their annotated locations for NP_689497.1

    Status: VALIDATED

    Source sequence(s)
    AC132219, BC014321
    Consensus CDS
    CCDS6233.1
    UniProtKB/Swiss-Prot
    B2RBZ1, Q96CF2
    Related
    ENSP00000297265.4, ENST00000297265.5
    Conserved Domains (1) summary
    pfam03357
    Location:24190
    Snf7; Snf7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    81732448..81759515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    82164151..82191202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)