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 distr... See more...

Aliases for CHMP1B Gene

Aliases for CHMP1B Gene

  • Charged Multivesicular Body Protein 1B 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 46-2 3 4
  • Charged Multivesicular Body Protein 1b 3 4
  • Chromatin-Modifying Protein 1b 3 4
  • Chromatin Modifying Protein 1B 2 3
  • HVps46-2 3 4
  • C18orf2 3 4
  • CHMP1.5 3 4
  • Vps46-2 3 4
  • Vacuolar Protein Sorting 46-2 3
  • C18-ORF2 3
  • C10orf2 3
  • Vps46B 3
  • CHMP1b 4

External Ids for CHMP1B Gene

Previous GeneCards Identifiers for CHMP1B Gene

  • GC18P011842

Summaries for CHMP1B Gene

Entrez Gene Summary for CHMP1B Gene

  • 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]

GeneCards Summary for CHMP1B Gene

CHMP1B (Charged Multivesicular Body Protein 1B) is a Protein Coding gene. Diseases associated with CHMP1B include Hereditary Spastic Paraplegia. Among its related pathways are Endocytosis and Necroptosis. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is CHMP1A.

UniProtKB/Swiss-Prot Summary for CHMP1B Gene

  • 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 and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release.

Gene Wiki entry for CHMP1B Gene

Additional gene information for CHMP1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHMP1B Gene

Genomics for CHMP1B Gene

GeneHancer (GH) Regulatory Elements for CHMP1B Gene

Promoters and enhancers for CHMP1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHMP1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHMP1B gene promoter:
  • AML1a
  • ATF-2
  • c-Ets-1
  • NF-1
  • NF-1/L
  • NRF-2
  • Pax-4a
  • Pax-5
  • SRF
  • SRF (504 AA)

Genomic Locations for CHMP1B Gene

Genomic Locations for CHMP1B Gene
chr18:11,851,390-11,854,449
(GRCh38/hg38)
Size:
3,060 bases
Orientation:
Plus strand
chr18:11,851,389-11,854,448
(GRCh37/hg19)
Size:
3,060 bases
Orientation:
Plus strand

Genomic View for CHMP1B Gene

Genes around CHMP1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP1B Gene

Proteins for CHMP1B Gene

  • Protein details for CHMP1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LBR1-CHM1B_HUMAN
    Recommended name:
    Charged multivesicular body protein 1b
    Protein Accession:
    Q7LBR1
    Secondary Accessions:
    • Q96E89
    • Q9HD41

    Protein attributes for CHMP1B Gene

    Size:
    199 amino acids
    Molecular mass:
    22109 Da
    Quaternary structure:
    • 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 sequentially. Interacts with CHMP1A. Interacts with VTA1; the interaction probably involves the open conformation of CHMP1B. Interacts with CHMP2A. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with SPAST (via MIT domain); the interaction is direct. Interacts with IST1. Interacts with MITD1. Interacts with STAMBP.
    SequenceCaution:
    • Sequence=AAG01449.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHMP1B Gene

neXtProt entry for CHMP1B Gene

Post-translational modifications for CHMP1B Gene

  • Ubiquitination at Lys6, Lys12, Lys42, Lys87, Lys104, and Lys110
  • Modification sites at PhosphoSitePlus

Other Protein References for CHMP1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHMP1B Gene

Domains & Families for CHMP1B Gene

Gene Families for CHMP1B Gene

Protein Domains for CHMP1B Gene

Suggested Antigen Peptide Sequences for CHMP1B Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar protein sorting-associated protein 46-2 (CHM1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7LBR1

UniProtKB/Swiss-Prot:

CHM1B_HUMAN :
  • Belongs to the SNF7 family.
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP1B: view

Function for CHMP1B Gene

Molecular function for CHMP1B Gene

UniProtKB/Swiss-Prot 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 and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release.

Phenotypes From GWAS Catalog for CHMP1B Gene

Gene Ontology (GO) - Molecular Function for CHMP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14505570
GO:0019904 protein domain specific binding IPI 17928862
GO:0042802 identical protein binding IPI 16730941
genes like me logo Genes that share ontologies with CHMP1B: view
genes like me logo Genes that share phenotypes with CHMP1B: view

Animal Model Products

CRISPR Products

miRNA for CHMP1B Gene

miRTarBase miRNAs that target CHMP1B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHMP1B Gene

Localization for CHMP1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP1B Gene

Cytoplasm, cytosol. Endosome. Late endosome membrane; Peripheral membrane protein. Note=Localizes to the midbody of dividing cells, colocalizing with CEP55 and CHMP5. Localized at the periphery of the Fleming body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHMP1B gene
Compartment Confidence
endosome 5
nucleus 4
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHMP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000815 ESCRT III complex IDA 24878737
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005771 multivesicular body IBA 21873635
genes like me logo Genes that share ontologies with CHMP1B: view

Pathways & Interactions for CHMP1B Gene

PathCards logo

SuperPathways for CHMP1B Gene

SuperPathway Contained pathways
1 Endocytosis
2 Necroptosis
genes like me logo Genes that share pathways with CHMP1B: view

Pathways by source for CHMP1B Gene

2 KEGG pathways for CHMP1B Gene

Gene Ontology (GO) - Biological Process for CHMP1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007049 cell cycle IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
GO:0010824 regulation of centrosome duplication IMP 20616062
genes like me logo Genes that share ontologies with CHMP1B: view

No data available for SIGNOR curated interactions for CHMP1B Gene

Drugs & Compounds for CHMP1B Gene

No Compound Related Data Available

Transcripts for CHMP1B Gene

mRNA/cDNA for CHMP1B Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(217) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP1B Gene

No ASD Table

Relevant External Links for CHMP1B Gene

GeneLoc Exon Structure for
CHMP1B
ECgene alternative splicing isoforms for
CHMP1B

Expression for CHMP1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHMP1B Gene

mRNA differential expression in normal tissues according to GTEx for CHMP1B Gene

This gene is overexpressed in Muscle - Skeletal (x11.8).

Protein differential expression in normal tissues from HIPED for CHMP1B Gene

This gene is overexpressed in Urine (32.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHMP1B Gene



Protein tissue co-expression partners for CHMP1B Gene

NURSA nuclear receptor signaling pathways regulating expression of CHMP1B Gene:

CHMP1B

SOURCE GeneReport for Unigene cluster for CHMP1B Gene:

Hs.656244

mRNA Expression by UniProt/SwissProt for CHMP1B Gene:

Q7LBR1-CHM1B_HUMAN
Tissue specificity: Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta and brain.

Evidence on tissue expression from TISSUES for CHMP1B Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with CHMP1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP1B Gene

Orthologs for CHMP1B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHMP1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP1B 32
  • 99.83 (n)
mouse
(Mus musculus)
Mammalia 2610002M06Rik 33
  • 96 (a)
OneToOne
Chmp1b 17 32
  • 92.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP1B 33
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP1B 32
  • 93.47 (n)
rat
(Rattus norvegicus)
Mammalia Chmp1b 32
  • 92.86 (n)
cow
(Bos Taurus)
Mammalia CHMP1B 32
  • 90.12 (n)
oppossum
(Monodelphis domestica)
Mammalia CHMP1B 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP1B 33
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP1B 33
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Chmp1 33
  • 73 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea did-2 33
  • 54 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID2 33
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.354 33
  • 50 (a)
OneToOne
Species where no ortholog for CHMP1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CHMP1B Gene

ENSEMBL:
Gene Tree for CHMP1B (if available)
TreeFam:
Gene Tree for CHMP1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHMP1B: view image

Paralogs for CHMP1B Gene

Paralogs for CHMP1B Gene

(2) SIMAP similar genes for CHMP1B Gene using alignment to 1 proteins:

  • CHM1B_HUMAN

Pseudogenes.org Pseudogenes for CHMP1B Gene

genes like me logo Genes that share paralogs with CHMP1B: view

Variants for CHMP1B Gene

Sequence variations from dbSNP and Humsavar for CHMP1B Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000531446 -- 11,852,464(+) G/A/T 3_prime_UTR_variant
rs1000752031 -- 11,854,141(+) T/C 3_prime_UTR_variant
rs1000752397 -- 11,853,927(+) A/T 3_prime_UTR_variant
rs1000899948 -- 11,851,214(+) G/A upstream_transcript_variant
rs1001141044 -- 11,851,293(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CHMP1B Gene

Variant ID Type Subtype PubMed ID
esv3641815 CNV gain 21293372
nsv1057995 CNV gain 25217958
nsv1129331 OTHER inversion 24896259
nsv1153637 OTHER inversion 26484159
nsv833590 CNV gain 17160897

Variation tolerance for CHMP1B Gene

Residual Variation Intolerance Score: 45.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHMP1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHMP1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP1B Gene

Disorders for CHMP1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for CHMP1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHMP1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHMP1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHMP1B Gene

Publications for CHMP1B Gene

  1. Novel interactions of ESCRT-III with LIP5 and VPS4 and their implications for ESCRT-III disassembly. (PMID: 18385515) Shim S … Hanson PI (Molecular biology of the cell 2008) 3 4 23 56
  2. Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. (PMID: 18997780) Yang D … Hurley JH (Nature structural & molecular biology 2008) 3 4 23 56
  3. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. (PMID: 15537668) Reid E … Sanderson CM (Human molecular genetics 2005) 2 3 4 56
  4. Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A. (PMID: 16174732) Scott A … Sundquist WI (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 56
  5. Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15. (PMID: 21543490) Kuang Z … Leis J (Journal of virology 2011) 3 4 56

Products for CHMP1B Gene

Sources for CHMP1B Gene