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Aliases for CHMP4C Gene

Aliases for CHMP4C Gene

  • Charged Multivesicular Body Protein 4C 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 32-3 3 4
  • Snf7 Homologue Associated With Alix 3 2 3
  • SNF7 Homolog Associated With Alix 3 3 4
  • Chromatin Modifying Protein 4C 2 3
  • Chromatin-Modifying Protein 4c 3 4
  • HVps32-3 3 4
  • Vps32-3 3 4
  • HSnf7-3 3 4
  • SNF7-3 3 4
  • Shax3 3 4
  • VPS32C 3
  • CHMP4c 4

External Ids for CHMP4C Gene

Previous GeneCards Identifiers for CHMP4C Gene

  • GC08P082808
  • GC08P082644
  • GC08P078134

Summaries for CHMP4C Gene

Entrez Gene Summary for CHMP4C Gene

  • 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]

GeneCards Summary for CHMP4C Gene

CHMP4C (Charged Multivesicular Body Protein 4C) is a Protein Coding gene. Diseases associated with CHMP4C include Hiv-1. Among its related pathways are HIV Life Cycle and Cellular Senescence (REACTOME). GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is CHMP4B.

UniProtKB/Swiss-Prot for CHMP4C Gene

  • Probable core 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). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). 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 HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for CHMP4C Gene

Additional gene information for CHMP4C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP4C Gene

Genomics for CHMP4C Gene

Regulatory Elements for CHMP4C Gene

Enhancers for CHMP4C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H081746 0.5 ENCODE 47.5 +13.5 13524 0 SMARCE1 JUND HLF FOS CHMP4C SNX16 ZFAND1 ENSG00000253334
GH08H081692 0.8 ENCODE 21.1 -38.0 -38030 3 ELF3 SOX13 ZNF792 SAP130 ARID4B ZNF644 YY1 GATA3 POLR2A HNF4G IMPA1 CHMP4C ZFAND1 SLC10A5
GH08H081780 0.8 Ensembl 16 +48.5 48467 0 CTCF RB1 MAX BATF RAD21 CC2D1A CTBP1 GATA3 SMC3 ZNF207 CHMP4C SNX16 ZFAND1 ENSG00000253334
GH08H081781 0.8 ENCODE 16 +48.2 48237 0 CTCF RB1 MAX BATF RAD21 CC2D1A CTBP1 GATA3 SMC3 ZNF207 SNX16 CHMP4C ZFAND1 ENSG00000253334
GH08H080809 0.9 Ensembl ENCODE 12.4 -922.0 -921990 1 SMARCE1 PKNOX1 NFIB DPF2 FOXA1 ZNF217 CTBP1 GATA3 TARDBP MLLT1 CHMP4C ENSG00000272518 RNU11-6P HMGB1P41 GC08M080788
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHMP4C on UCSC Golden Path with GeneCards custom track

Promoters for CHMP4C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000226448 67 1399 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF121 GLIS2 ZNF143

Genomic Location for CHMP4C Gene

Chromosome:
8
Start:
81,732,434 bp from pter
End:
81,759,515 bp from pter
Size:
27,082 bases
Orientation:
Plus strand

Genomic View for CHMP4C Gene

Genes around CHMP4C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP4C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP4C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP4C Gene

Proteins for CHMP4C Gene

  • Protein details for CHMP4C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CF2-CHM4C_HUMAN
    Recommended name:
    Charged multivesicular body protein 4c
    Protein Accession:
    Q96CF2
    Secondary Accessions:
    • B2RBZ1

    Protein attributes for CHMP4C Gene

    Size:
    233 amino acids
    Molecular mass:
    26411 Da
    Quaternary structure:
    • Probable core 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 CHMP2A. Interacts with CHMP4A. Interacts with CHMP4B. Interacts with CHMP6. Interacts with VPS4A. Interacts with PDCD6IP; the interaction is direct.
    Miscellaneous:
    • Its overexpression strongly inhibits HIV-1 release.

    Three dimensional structures from OCA and Proteopedia for CHMP4C Gene

neXtProt entry for CHMP4C Gene

Post-translational modifications for CHMP4C Gene

  • Phosphorylated at Ser-210 by AURKB during cytokinesis: together with ZFYVE19/ANCHR, phosphorylated CHMP4C retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHMP4C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHMP4C Gene

Domains & Families for CHMP4C Gene

Gene Families for CHMP4C Gene

Protein Domains for CHMP4C Gene

Suggested Antigen Peptide Sequences for CHMP4C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CF2

UniProtKB/Swiss-Prot:

CHM4C_HUMAN :
  • The acidic C-terminus and the basic N-terminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components (By similarity).
  • Belongs to the SNF7 family.
Domain:
  • The acidic C-terminus and the basic N-terminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components (By similarity).
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP4C: view

Function for CHMP4C Gene

Molecular function for CHMP4C Gene

UniProtKB/Swiss-Prot Function:
Probable core 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). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). 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 HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Phenotypes From GWAS Catalog for CHMP4C Gene

Gene Ontology (GO) - Molecular Function for CHMP4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14505570
GO:0042803 protein homodimerization activity IPI 14505570
genes like me logo Genes that share ontologies with CHMP4C: view
genes like me logo Genes that share phenotypes with CHMP4C: view

Animal Model Products

CRISPR Products

miRNA for CHMP4C Gene

miRTarBase miRNAs that target CHMP4C

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHMP4C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHMP4C Gene

Localization for CHMP4C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP4C Gene

Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein. Midbody, Midbody ring. Note=Localizes to the midbody during late cytokinesis. During its recruitment, localizes initially to the midbody arms, before being directed to the central region, the midbody ring, also called Flemming body. Phosphorylation at Ser-210 by AURKB triggers localization to midbody ring. {ECO:0000269 PubMed:22422861}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHMP4C gene
Compartment Confidence
extracellular 5
cytosol 5
endosome 5
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CHMP4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000815 ESCRT III complex TAS 20588296
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CHMP4C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHMP4C Gene

Pathways & Interactions for CHMP4C Gene

genes like me logo Genes that share pathways with CHMP4C: view

Pathways by source for CHMP4C Gene

SIGNOR curated interactions for CHMP4C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CHMP4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006810 transport IEA --
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with CHMP4C: view

Drugs & Compounds for CHMP4C Gene

No Compound Related Data Available

Transcripts for CHMP4C Gene

mRNA/cDNA for CHMP4C Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHMP4C Gene

Charged multivesicular body protein 4C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHMP4C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP4C Gene

No ASD Table

Relevant External Links for CHMP4C Gene

GeneLoc Exon Structure for
CHMP4C
ECgene alternative splicing isoforms for
CHMP4C

Expression for CHMP4C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHMP4C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHMP4C Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.1) and Esophagus - Mucosa (x4.4).

Protein differential expression in normal tissues from HIPED for CHMP4C Gene

This gene is overexpressed in Urine (45.4) and Salivary gland (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHMP4C Gene



NURSA nuclear receptor signaling pathways regulating expression of CHMP4C Gene:

CHMP4C

SOURCE GeneReport for Unigene cluster for CHMP4C Gene:

Hs.183861

mRNA Expression by UniProt/SwissProt for CHMP4C Gene:

Q96CF2-CHM4C_HUMAN
Tissue specificity: Expressed in heart, spleen and kidney.

Evidence on tissue expression from TISSUES for CHMP4C Gene

  • Kidney(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with CHMP4C: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP4C Gene

Orthologs for CHMP4C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHMP4C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP4C 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia CHMP4C 33 34
  • 89.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CHMP4C 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHMP4C 33 34
  • 86.7 (n)
mouse
(Mus musculus)
Mammalia Chmp4c 33 16 34
  • 83.19 (n)
rat
(Rattus norvegicus)
Mammalia Chmp4c 33
  • 82.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP4C 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP4C 33 34
  • 75.08 (n)
lizard
(Anolis carolinensis)
Reptilia CHMP4C 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp4c 33
  • 70.1 (n)
zebrafish
(Danio rerio)
Actinopterygii chmp4c 33 34
  • 64.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta shrb 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-32.1 34
  • 53 (a)
ManyToMany
vps-32.2 34
  • 48 (a)
ManyToMany
R12C12.5 34
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF7 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6410 34
  • 49 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3245 33
Species where no ortholog for CHMP4C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHMP4C Gene

ENSEMBL:
Gene Tree for CHMP4C (if available)
TreeFam:
Gene Tree for CHMP4C (if available)

Paralogs for CHMP4C Gene

Paralogs for CHMP4C Gene

(4) SIMAP similar genes for CHMP4C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CHMP4C: view

Variants for CHMP4C Gene

Sequence variations from dbSNP and Humsavar for CHMP4C Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000108790 -- 81,746,668(+) GTGTG(A/G)TATGG intron-variant
rs1000116677 -- 81,739,919(+) CTCCC(A/G)TGGAA intron-variant
rs1000133895 -- 81,734,328(+) TATTG(A/G)TGGTG intron-variant
rs1000246648 -- 81,747,462(+) CACTT(C/T)CGGGT intron-variant
rs1000356588 -- 81,731,459(+) TATGC(A/C)GAGCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CHMP4C Gene

Variant ID Type Subtype PubMed ID
nsv465721 CNV gain 19166990
nsv611607 CNV gain 21841781
nsv831369 CNV gain+loss 17160897

Variation tolerance for CHMP4C Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 62.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHMP4C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHMP4C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP4C Gene

Disorders for CHMP4C Gene

MalaCards: The human disease database

(1) MalaCards diseases for CHMP4C Gene - From: GeneCards

Disorder Aliases PubMed IDs
hiv-1
  • aids, slow progression to
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHMP4C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHMP4C
genes like me logo Genes that share disorders with CHMP4C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHMP4C Gene

Publications for CHMP4C Gene

  1. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PMID: 14678797) Katoh K … Maki M (Archives of biochemistry and biophysics 2004) 2 3 4 22 60
  2. Structure and function of human Vps20 and Snf7 proteins. (PMID: 14583093) Peck JW … Burbelo PD (The Biochemical journal 2004) 3 4 22 60
  3. ANCHR mediates Aurora-B-dependent abscission checkpoint control through retention of VPS4. (PMID: 24814515) Thoresen SB … Stenmark H (Nature cell biology 2014) 3 4 60
  4. ESCRT-III governs the Aurora B-mediated abscission checkpoint through CHMP4C. (PMID: 22422861) Carlton JG … Martin-Serrano J (Science (New York, N.Y.) 2012) 3 4 60
  5. ALIX-CHMP4 interactions in the human ESCRT pathway. (PMID: 18511562) McCullough J … Hill CP (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 60

Products for CHMP4C Gene

Sources for CHMP4C Gene

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