Chmp1a charged multivesicular body protein 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chmp1aprovided by MGI
Official Full Name: charged multivesicular body protein 1Aprovided by MGI
Primary source: MGI:MGI:1920159
See related: Ensembl:ENSMUSG00000000743 AllianceGenome:MGI:1920159
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pcoln3; 2900018H07Rik
Summary: Predicted to enable protein domain specific binding activity and protein homodimerization activity. Predicted to be involved in several processes, including midbody abscission; mitotic sister chromatid segregation; and regulation of cell cycle process. Predicted to be located in early endosome; microtubule organizing center; and nuclear lumen. Predicted to be part of ESCRT III complex. Predicted to be active in multivesicular body. Is expressed in 4th ventricle choroid plexus; 4th ventricle choroid plexus epithelium; cerebellum; cerebellum Purkinje cell layer; and cortical plate. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 8. Orthologous to human CHMP1A (charged multivesicular body protein 1A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in colon adult (RPKM 82.2), large intestine adult (RPKM 63.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 72.08 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123931000..123939527, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123204261..123212788, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.
Title: A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.
miR-17 regulates the proliferation and differentiation of retinal progenitor cells by targeting CHMP1A.
Title: miR-17 regulates the proliferation and differentiation of retinal progenitor cells by targeting CHMP1A.
Findings show CHMP1A loss impairs secretion of SHH on ART-EVs, providing molecular mechanistic insights into the role of ESCRT proteins and EVs in the brain.
Title: The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in autophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	ISO Inferred from Sequence Orthology more info
involved_in endosome transport via multivesicular body sorting pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in late endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in late endosome to vacuole transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fission	NAS Non-traceable Author Statement more info	PubMed
involved_in midbody abscission	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic chromosome condensation	ISO Inferred from Sequence Orthology more info
involved_in mitotic metaphase chromosome alignment	ISO Inferred from Sequence Orthology more info
involved_in multivesicular body assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in multivesicular body sorting pathway	ISO Inferred from Sequence Orthology more info
involved_in multivesicular body-lysosome fusion	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane reassembly	ISO Inferred from Sequence Orthology more info
involved_in nucleus organization	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane repair	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centrosome duplication	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic spindle assembly	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	ISO Inferred from Sequence Orthology more info
involved_in vacuolar transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle fusion with vacuole	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in viral budding from plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in viral budding via host ESCRT complex	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of ESCRT III complex	IBA Inferred from Biological aspect of Ancestor more info
located_in amphisome membrane	ISO Inferred from Sequence Orthology more info
located_in autophagosome membrane	ISO Inferred from Sequence Orthology more info
located_in condensed nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endomembrane system	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in kinetochore microtubule	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule organizing center	ISO Inferred from Sequence Orthology more info
located_in midbody	ISO Inferred from Sequence Orthology more info
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
located_in multivesicular body membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: charged multivesicular body protein 1a

Names: chromatin modifying protein 1A; chromatin-modifying protein 1a; procollagen (type III) N-endopeptidase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.