CHMP1B charged multivesicular body protein 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHMP1Bprovided by HGNC
Official Full Name: charged multivesicular body protein 1Bprovided by HGNC
Primary source: HGNC:HGNC:24287
See related: Ensembl:ENSG00000255112 MIM:606486; AllianceGenome:HGNC:24287
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Vps46B; C10orf2; C18orf2; CHMP1.5; Vps46-2; C18-ORF2; hVps46-2
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]
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 18p11.21

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (11851413..11854444)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (12013673..12016702)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (11851412..11854443)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1.
Title: Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1.
To learn how certain ESCRT-IIIs shape positively curved membranes, we determined structures of human membrane-bound CHMP1B-only, membrane-bound CHMP1B + IST1, and IST1-only filaments by cryo-EM
Title: Membrane constriction and thinning by sequential ESCRT-III polymerization.
The interaction between CL7MIT and CHMP1B and between CL7MIT and IST1 became stronger when IST1 or CHMP1B was additionally coexpressed, suggesting formation of ternary complex of calpain-7, IST1 and CHMP1B.
Title: Calpain-7 binds to CHMP1B at its second α-helical region and forms a ternary complex with IST1.
The 2.5-A structure of the C-terminal tail of CHMP1B with the MIT domain of spastin reveals a specific, high-affinity complex involving a noncanonical binding site between the first and third helices of the MIT domain.
Title: Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.
Observational study of gene-disease association. (HuGE Navigator)
Title: Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
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.
Title: The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation.
CHMP1B is bound by the VPS4A microtubule interacting and transport (MIT) domain.
Title: Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of exercise behavior in Dutch and American adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	VPS4A increases co-localization of HIV-1 Gag with the ESCRT proteins Chmp1b, Chmp4b, and Chmp4c at sites of HIV-1 assembly	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D5S2354 (e-PCR)
- UniSTS:473392

G35510 (e-PCR)
- UniSTS:44150

RH104461 (e-PCR)
- UniSTS:98785

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MIT domain binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ESCRT III complex disassembly	NAS Non-traceable Author Statement more info	PubMed
involved_in autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome transport via multivesicular body sorting pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in late endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multivesicular body assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in multivesicular body sorting pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in multivesicular body-lysosome fusion	NAS Non-traceable Author Statement more info	PubMed
involved_in nuclear membrane reassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane repair	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle fusion with vacuole	NAS Non-traceable Author Statement more info	PubMed
involved_in viral budding from plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in viral budding via host ESCRT complex	IDA Inferred from Direct Assay more info	PubMed
involved_in viral budding via host ESCRT complex	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of ESCRT III complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESCRT III complex	IDA Inferred from Direct Assay more info	PubMed
part_of ESCRT III complex	NAS Non-traceable Author Statement more info	PubMed
located_in amphisome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
part_of membrane coat	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
located_in multivesicular body membrane	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: charged multivesicular body protein 1b

Names: VPS46 homolog B; chromatin modifying protein 1B; chromatin-modifying protein 1b; vacuolar protein sorting 46-2; vacuolar protein sorting-associated protein 46-2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.