Human Gene CHMP1A (uc002fnu.4) Description and Page Index
Description: Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA. RefSeq Summary (NM_002768): 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]. Transcript (Including UTRs) Position: hg19 chr16:89,710,839-89,724,193 Size: 13,355 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr16:89,712,474-89,723,996 Size: 11,523 Coding Exon Count: 7
ID:CHM1A_HUMAN DESCRIPTION: RecName: Full=Charged multivesicular body protein 1a; AltName: Full=Chromatin-modifying protein 1a; Short=CHMP1a; AltName: Full=Vacuolar protein sorting-associated protein 46-1; Short=Vps46-1; Short=hVps46-1; 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 cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing. 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. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. INTERACTION: O95630:STAMBP; NbExp=3; IntAct=EBI-1057156, EBI-396676; P40818:USP8; NbExp=2; IntAct=EBI-1057156, EBI-1050865; SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein. Nucleus matrix. Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin. TISSUE SPECIFICITY: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63. INDUCTION: By muristerone. SIMILARITY: Belongs to the SNF7 family. CAUTION: Was originally (PubMed:8863740) thought to be a metalloprotease (PRSM1). This was based on a wrong translation of the ORF which gave rise to a putative protein of 318 AA containing a pattern reminiscent of zinc metalloproteases. SEQUENCE CAUTION: Sequence=AAC50775.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=BAA07557.1; Type=Erroneous translation; Note=Wrong choice of frame;
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 Q9HD42
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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.