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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 Infectious disease. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is CHMP4A.

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

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

Genomics for CHMP4C Gene

Regulatory Elements for CHMP4C Gene

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

Proteomics data for CHMP4C Gene at MOPED

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:

Antibody Products

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-termminus 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-termminus 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 for CHMP4C Gene

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

Animal Model Products

miRNA for CHMP4C Gene

miRTarBase miRNAs that target CHMP4C

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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. Note=Localizes to the midbody during cytokinesis. Phosphorylation at Ser-210 by AURKB triggers localization to Flemming body (PubMed:22422861). {ECO:0000269 PubMed:22422861}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHMP4C Gene COMPARTMENTS Subcellular localization image for CHMP4C gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CHMP4C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CHMP4C: view

Pathways & Interactions for CHMP4C Gene

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

Pathways by source for CHMP4C Gene

1 KEGG pathway 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:0006914 autophagy TAS 20588296
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0009838 abscission IMP 22422861
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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, MOPED, and MaxQB for CHMP4C Gene



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.
genes like me logo Genes that share expression patterns with CHMP4C: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CHMP4C 35
  • 86.7 (n)
  • 89.7 (a)
CHMP4C 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP4C 35
  • 89.9 (n)
  • 90.04 (a)
CHMP4C 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp4c 35
  • 83.19 (n)
  • 87.07 (a)
Chmp4c 16
Chmp4c 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHMP4C 35
  • 99.86 (n)
  • 99.57 (a)
CHMP4C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chmp4c 35
  • 82.18 (n)
  • 87.93 (a)
oppossum
(Monodelphis domestica)
Mammalia CHMP4C 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP4C 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP4C 35
  • 75.08 (n)
  • 78.44 (a)
CHMP4C 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP4C 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp4c 35
  • 70.1 (n)
  • 73.09 (a)
zebrafish
(Danio rerio)
Actinopterygii chmp4c 35
  • 64.85 (n)
  • 69.09 (a)
chmp4c 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shrb 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R12C12.5 36
  • 37 (a)
ManyToMany
vps-32.1 36
  • 53 (a)
ManyToMany
vps-32.2 36
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF7 36
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3245 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6410 36
  • 49 (a)
OneToMany
Species with no ortholog for CHMP4C:
  • 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
rs35094336 - 81,758,536(+) CTTGG(A/G)CTACC reference, missense
rs1565314 -- 81,756,443(-) ACTCA(C/T)TAGAT intron-variant
rs2291489 -- 81,755,241(-) ATTCC(C/T)GATGA intron-variant
rs2291490 -- 81,754,976(-) CAGCT(C/T)TTAGG intron-variant
rs3202419 -- 81,758,915(+) AGAAT(C/T)GCTTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv465721 CNV Gain 19166990
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

HapMap Linkage Disequilibrium report
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. (Arch. Biochem. Biophys. 2004) 2 3 4 23 67
  2. Structure and function of human Vps20 and Snf7 proteins. (PMID: 14583093) Peck J.W. … Burbelo P.D. (Biochem. J. 2004) 3 23
  3. The ALG-2-interacting protein Alix associates with CHMP4b, a human homologue of yeast Snf7 that is involved in multivesicular body sorting. (PMID: 12860994) Katoh K. … Maki M. (J. Biol. Chem. 2003) 2 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. ANCHR mediates Aurora-B-dependent abscission checkpoint control through retention of VPS4. (PMID: 24814515) Thoresen S.B. … Stenmark H. (Nat. Cell Biol. 2014) 3

Products for CHMP4C Gene

Sources for CHMP4C Gene

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