Name

CHM Gene

choroideremia (Rab escort protein 1)

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

CHMP1B Gene

charged multivesicular body protein 1B

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]

CHMP3 Gene

charged multivesicular body protein 3

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]

CHMP7 Gene

charged multivesicular body protein 7

CHMP5 Gene

charged multivesicular body protein 5

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]

CHMP4A Gene

charged multivesicular body protein 4A

CHMP4A 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]

CHMP4B Gene

charged multivesicular body protein 4B

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]

CHMP4C Gene

charged multivesicular body protein 4C

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]

CHMP6 Gene

charged multivesicular body protein 6

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]

CHMP1A Gene

charged multivesicular body protein 1A

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CHMP2B Gene

charged multivesicular body protein 2B

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]

CHMP2A Gene

charged multivesicular body protein 2A

CHMP2A 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]

CHMP4BP1 Gene

charged multivesicular body protein 4B pseudogene 1

CHML Gene

choroideremia-like (Rab escort protein 2)

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]

RNF103-CHMP3 Gene

RNF103-CHMP3 readthrough

This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]

CHMRQ Gene

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

CHMP1AP1 Gene

charged multivesicular body protein 1A pseudogene 1

CHMP1B2P Gene

charged multivesicular body protein 1B2, pseudogene

chm Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chm in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

CHM Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHM from the Pathway Commons Protein-Protein Interactions dataset.

chmp3vps24 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp3vps24 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4a Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4b Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4b in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4c Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4c in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4s Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4s in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chm1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chm1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chml Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chml in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmi Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmi in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp1b Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp1b in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp1a Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp1a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp3 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp3 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp7 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp7 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4b4a Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4b4a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp2bintron5 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp2bintron5 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp4 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp4 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp2b Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp2b in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp2a Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp2a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

chmp6 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term chmp6 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

CHMP3 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP3 from the Pathway Commons Protein-Protein Interactions dataset.

CHMP7 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP7 from the Pathway Commons Protein-Protein Interactions dataset.

CHMP6 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP6 from the Pathway Commons Protein-Protein Interactions dataset.

CHMP4A Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP4A from the Pathway Commons Protein-Protein Interactions dataset.

CHMP4B Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP4B from the Pathway Commons Protein-Protein Interactions dataset.

CHMP2B Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP2B from the Pathway Commons Protein-Protein Interactions dataset.

CHMP5 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP5 from the Pathway Commons Protein-Protein Interactions dataset.

CHMP1B Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP1B from the Pathway Commons Protein-Protein Interactions dataset.

CHMP4C Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP4C from the Pathway Commons Protein-Protein Interactions dataset.

CHML Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHML from the Pathway Commons Protein-Protein Interactions dataset.

CHMP2A Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP2A from the Pathway Commons Protein-Protein Interactions dataset.

CHMP1A Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CHMP1A from the Pathway Commons Protein-Protein Interactions dataset.