Description: Homo sapiens charged multivesicular body protein 5 (CHMP5), transcript variant 1, mRNA. RefSeq Summary (NM_016410): CHMP5 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]. Transcript (Including UTRs) Position: hg19 chr9:33,264,877-33,282,067 Size: 17,191 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr9:33,265,077-33,280,857 Size: 15,781 Coding Exon Count: 8
ID:CHMP5_HUMAN DESCRIPTION: RecName: Full=Charged multivesicular body protein 5; AltName: Full=Chromatin-modifying protein 5; AltName: Full=SNF7 domain-containing protein 2; AltName: Full=Vacuolar protein sorting-associated protein 60; Short=Vps60; Short=hVps60; 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 HIV-1 p6- and p9-dependent virus release. 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. Interacts with VTA1. Interacts with CHMP2A. Interacts with VTA1; the interaction involves soluble CHMP5. INTERACTION: O95630:STAMBP; NbExp=2; IntAct=EBI-751303, EBI-396676; SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein (Probable). Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body. SIMILARITY: Belongs to the SNF7 family. SEQUENCE CAUTION: Sequence=AAG23821.1; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CHMP5 CDC HuGE Published Literature: CHMP5 Positive Disease Associations: Erectile Dysfunction Related Studies:
Erectile Dysfunction Sarah L Kerns et al. International journal of radiation oncology, biology, physics 2010, Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer., International journal of radiation oncology, biology, physics.
[PubMed 20932654]
To our knowledge, this is the first genome-wide association study to identify SNPs associated with adverse effects resulting from radiotherapy. It is important to note that the SNP that proved to be significantly associated with ED is located within a gene whose encoded product plays a role in male gonad development and function. Another key finding of this project is that the four SNPs most strongly associated with ED were specific to persons of African ancestry and would therefore not have been identified had a cohort of European ancestry been screened. This study demonstrates the feasibility of a genome-wide approach to investigate genetic predisposition to radiation injury.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NZZ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
