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Tbio Charged multivesicular body protein 1a

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.

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]

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Property Summary

NCBI Gene PubMed Count 33
PubMed Score 14.24
PubTator Score 16.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
PONTOCEREBELLAR HYPOPLASIA, TYPE 8 1
Disease Target Count P-value
osteosarcoma 7933 9.82728275637945E-9
psoriasis 6685 1.38607256699662E-4
Disease Target Count Z-score Confidence
Pontocerebellar hypoplasia 29 3.355 1.7
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
Disease Target Count
pontocerebellar hypoplasia type 8 1
Disease Target Count
Pontocerebellar hypoplasia 8 1

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -1.400 0.000
osteosarcoma -1.916 0.000

Synonym

Accession Q9HD42 A2RU09 Q14468 Q15779 Q96G31
Symbols PCH8
CHMP1
PRSM1
PCOLN3
VPS46A
VPS46-1

Gene

CHMP1A

PANTHER Protein Class (1)

PDB

2YMB   4A5X   2JQ9  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid

 GO Function (4)

 GO Component (7)

 GO Process (17)

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 Compartment GO Term (56)

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 HCA RNA Cell Line (56)

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Pathway (1)

 UniProt Keyword (19)

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Gene RIF (8)

PMID Text
23748770 we identified Ser(179) and Ser(182) located in the C-terminal region of the CHMP1A as major phosphorylation sites that cause a mobility shift.
23273016 Study reports the discovery of a chimeric RNA between ZC3HAV1L and CHMP1A in human, located on chromosome 7 and 16, respectively. The fusion occurs at an exon-exon boundary, and was detected both computationally and experimentally from different cells or tissue types.
23023333 Our results suggest that CHMP1A serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells.
22261332 our results demonstrate that Chmp1A functions as a tumor suppressor gene in renal cells
21705858 Chmp1A regulates tumor growth through ATM sugnaling and that neclear locaization of Chmp1A is reqired for the growth inhibition and ATM activation.
19640981 Both Vps4A and CHMP1A localized in the vicinity of viral cytoplasmic assembly compartments, sites of viral maturation that develop in Cytomegalovirus-infected cells. Thus, ESCRT machinery is involved in the final steps of HCMV replication.
18787405 Chmp1A is a novel tumor suppressor, especially in pancreas and that Chmp1A regulates tumor growth potentially through p53 signaling pathway.
17711858 UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7.

AA Sequence 

MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVD      1 - 70
AVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLT     71 - 140
TPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN                  141 - 196
//

Text Mined References (38)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23748770 2013 Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A).
23456168 2013 Genome-wide association study in Han Chinese identifies three novel loci for human height.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23273016 2012 Detection of a common chimeric transcript between human chromosomes 7 and 16.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23045692 2012 ESCRT-III binding protein MITD1 is involved in cytokinesis and has an unanticipated PLD fold that binds membranes.
23023333 2012 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
22261332 2012 Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
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