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

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Summary

Official Symbol: CHMP1Bprovided by HGNC
Official Full Name: charged multivesicular body protein 1Bprovided by HGNC
Primary source: HGNC:24287
See related: Ensembl:ENSG00000255112; HPRD:12106; MIM:606486; Vega:OTTHUMG00000165820
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]

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Genomic context

Location :: 18p11.21

Sequence :: Chromosome: 18; NC_000018.9 (11851389..11854448)

See CHMP1B in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q7LBR1	Q9Y448	C15orf23	HPRD	PubMed
Q7LBR1	Q9HD42	CHMP1A	HPRD	PubMed
Q7LBR1	Q7LBR1	CHMP1B	HPRD	PubMed
Q7LBR1	Q9H444	CHMP4B	HPRD	PubMed
Q7LBR1	Q9NZZ3	CHMP5	HPRD	PubMed
Q7LBR1	CCR4 NOT transcription complex subunit 10	CNOT10	HPRD	PubMed
Q7LBR1	P62491	RAB11A	HPRD	PubMed
Q7LBR1	Q02833	RASSF7	HPRD	PubMed
Q7LBR1	O75643	SNRNP200	HPRD	PubMed
Q7LBR1	Q08945	SSRP1	HPRD	PubMed
Q7LBR1	O95630	STAMBP	HPRD	PubMed
Q7LBR1	P53597	SUCLG1	HPRD	PubMed
Q7LBR1	Q9UN37	VPS4A	HPRD	PubMed
Q7LBR1	O75351	VPS4B	HPRD	PubMed
BioGRID:121394	BioGRID:115141	IST1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121394	BioGRID:115863	STAMBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:121394	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121394	BioGRID:114555	USP8	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
cell division	IEA Inferred from Electronic Annotation more info
protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	IEA Inferred from Electronic Annotation more info
endosome	IEA Inferred from Electronic Annotation more info
late endosome membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: charged multivesicular body protein 1b

Names: charged multivesicular body protein 1b; vacuolar protein sorting 46-2; chromatin modifying protein 1B; chromatin-modifying protein 1b; vacuolar protein sorting-associated protein 46-2

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_020412.4 → NP_065145.2 charged multivesicular body protein 1b

Status: VALIDATED

Source sequence(s)

AP005137, BC065933, BX494191

Consensus CDS

CCDS54180.1

UniProtKB/Swiss-Prot

Q7LBR1

Related

ENSP00000432279, OTTHUMP00000231067, ENST00000526991, OTTHUMT00000386375

Conserved Domains (1) summary

cl02305
Location:6 – 176
Blast Score: 164

Snf7; Snf7

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p5 Primary Assembly

Range

11851389..11854448

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

11805683..11808740

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF306520.1	AAL48200.1
genomic	AP005137.2 (65150..68173)	None
genomic	CH471113.2	EAX01575.1
mRNA	AF281064.1	AAG01449.1
mRNA	AK314068.1	BAG36769.1
mRNA	BC012733.2	AAH12733.3
mRNA	BC065933.1	AAH65933.1
mRNA	BX494191.1	None
other-genetic	HQ448716.1	ADQ33194.1