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).
Expression
Ubiquitous expression in colon (RPKM 33.4), thyroid (RPKM 32.0) and 25 other tissues See more
This gene encodes a member of the chromatin-modifying
protein/charged multivesicular body protein (CHMP) protein family. The
protein is part of the endosomal sorting complex required for transport
(ESCRT) complex III (ESCRT-III), which functions in the sorting of
endocytosed cell-surface receptors into multivesicular endosomes. The
ESCRT machinery also functions in the final abscisson stage of
cytokinesis and in the budding of enveloped viruses such as HIV-1. The
three proteins of the CHMP4 subfamily interact with programmed cell
death 6 interacting protein (PDCD6IP, also known as ALIX), which also
functions in the ESCRT pathway. The CHMP4 proteins assemble into
membrane-attached 5-nm filaments that form circular scaffolds and
promote or stabilize outward budding. These polymers are proposed to
help generate the luminal vesicles of multivesicular bodies. Mutations
in this gene result in autosomal dominant posterior polar
cataracts.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues See more
This gene encodes a protein that sorts transmembrane
proteins into lysosomes/vacuoles via the multivesicular body (MVB)
pathway. This protein, along with other soluble coiled-coil containing
proteins, forms part of the ESCRT-III protein complex that binds to the
endosomal membrane and recruits additional cofactors for protein sorting
into the MVB. This protein may also co-immunoprecipitate with a member
of the IFG-binding protein superfamily. Alternative splicing results in
multiple transcript variants. Read-through transcription also exists
between this gene and the upstream ring finger protein 103 (RNF103)
gene. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in esophagus (RPKM 41.6), thyroid (RPKM 40.0) and 25 other tissues See more
Summary CHMP1B 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]