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Aliases for CHMP1A Gene

Aliases for CHMP1A Gene

  • Charged Multivesicular Body Protein 1A 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 46-1 3 4
  • Procollagen (Type III) N-Endopeptidase 2 3
  • Chromatin Modifying Protein 1A 2 3
  • VPS46-1 3 4
  • PCOLN3 3 4
  • PRSM1 3 4
  • CHMP1 3 4
  • Charged Multivesicular Body Protein 1/Chromatin Modifying Protein 1 3
  • Chromatin-Modifying Protein 1a 4
  • Protease, Metallo, 1, 33kD 3
  • KIAA0047 4
  • HVps46-1 4
  • VPS46A 3
  • CHMP1a 4
  • PCH8 3

External Ids for CHMP1A Gene

Previous HGNC Symbols for CHMP1A Gene

  • PRSM1
  • PCOLN3

Previous GeneCards Identifiers for CHMP1A Gene

  • GC16M088239
  • GC16M089710
  • GC16M075406

Summaries for CHMP1A Gene

Entrez Gene Summary for CHMP1A Gene

  • 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]

GeneCards Summary for CHMP1A Gene

CHMP1A (Charged Multivesicular Body Protein 1A) is a Protein Coding gene. Diseases associated with CHMP1A include Pontocerebellar Hypoplasia, Type 8 and Borna Disease. GO annotations related to this gene include protein homodimerization activity and metallopeptidase activity. An important paralog of this gene is CHMP1B.

UniProtKB/Swiss-Prot for CHMP1A 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 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.

Gene Wiki entry for CHMP1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP1A Gene

Genomics for CHMP1A Gene

Regulatory Elements for CHMP1A Gene

Enhancers for CHMP1A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHMP1A on UCSC Golden Path with GeneCards custom track

Promoters for CHMP1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHMP1A on UCSC Golden Path with GeneCards custom track

Genomic Location for CHMP1A Gene

Chromosome:
16
Start:
89,644,431 bp from pter
End:
89,657,845 bp from pter
Size:
13,415 bases
Orientation:
Minus strand

Genomic View for CHMP1A Gene

Genes around CHMP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP1A Gene

Proteins for CHMP1A Gene

  • Protein details for CHMP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD42-CHM1A_HUMAN
    Recommended name:
    Charged multivesicular body protein 1a
    Protein Accession:
    Q9HD42
    Secondary Accessions:
    • A2RU09
    • Q14468
    • Q15779
    • Q96G31

    Protein attributes for CHMP1A Gene

    Size:
    196 amino acids
    Molecular mass:
    21703 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 sequentally. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1.
    SequenceCaution:
    • Sequence=AAC50775.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAA07557.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHMP1A Gene

    Alternative splice isoforms for CHMP1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHMP1A Gene

Proteomics data for CHMP1A Gene at MOPED

Post-translational modifications for CHMP1A Gene

  • Ubiquitination at Lys 56 and Lys 98
  • Modification sites at PhosphoSitePlus

Other Protein References for CHMP1A Gene

No data available for DME Specific Peptides for CHMP1A Gene

Domains & Families for CHMP1A Gene

Protein Domains for CHMP1A Gene

Suggested Antigen Peptide Sequences for CHMP1A Gene

Graphical View of Domain Structure for InterPro Entry

Q9HD42

UniProtKB/Swiss-Prot:

CHM1A_HUMAN :
  • Belongs to the SNF7 family.
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP1A: view

Function for CHMP1A Gene

Molecular function for CHMP1A 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 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.
UniProtKB/Swiss-Prot Induction:
By muristerone.
genes like me logo Genes that share phenotypes with CHMP1A: view

Human Phenotype Ontology for CHMP1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CHMP1A Gene

Localization for CHMP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP1A Gene

Cytoplasm. Endosome membrane; Peripheral membrane protein. Nucleus matrix. Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHMP1A Gene COMPARTMENTS Subcellular localization image for CHMP1A gene
Compartment Confidence
cytoskeleton 5
endosome 5
extracellular 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for CHMP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 11559748
genes like me logo Genes that share ontologies with CHMP1A: view

Pathways & Interactions for CHMP1A Gene

SuperPathways for CHMP1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHMP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
GO:0010824 regulation of centrosome duplication IMP 20616062
GO:0016192 vesicle-mediated transport IEA,IDA 11559748
genes like me logo Genes that share ontologies with CHMP1A: view

No data available for Pathways by source and SIGNOR curated interactions for CHMP1A Gene

Drugs & Compounds for CHMP1A Gene

No Compound Related Data Available

Transcripts for CHMP1A Gene

Unigene Clusters for CHMP1A Gene

Charged multivesicular body protein 1A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP1A Gene

No ASD Table

Relevant External Links for CHMP1A Gene

GeneLoc Exon Structure for
CHMP1A
ECgene alternative splicing isoforms for
CHMP1A

Expression for CHMP1A Gene

mRNA expression in normal human tissues for CHMP1A Gene

Protein differential expression in normal tissues from HIPED for CHMP1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7) and Heart (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHMP1A Gene



SOURCE GeneReport for Unigene cluster for CHMP1A Gene Hs.589427

mRNA Expression by UniProt/SwissProt for CHMP1A Gene

Q9HD42-CHM1A_HUMAN
Tissue specificity: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63.
genes like me logo Genes that share expression patterns with CHMP1A: view

Protein tissue co-expression partners for CHMP1A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHMP1A Gene

Orthologs for CHMP1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHMP1A 35
  • 92.69 (n)
  • 97.96 (a)
CHMP1A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP1A 35
  • 91.16 (n)
  • 97.45 (a)
CHMP1A 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp1a 35
  • 90.82 (n)
  • 97.45 (a)
Chmp1a 16
Chmp1a 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chmp1a 35
  • 90.31 (n)
  • 97.45 (a)
oppossum
(Monodelphis domestica)
Mammalia CHMP1A 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP1A 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHMP1A 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP1A 35
  • 85.2 (n)
  • 94.9 (a)
CHMP1A 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP1A 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp1a 35
  • 79.59 (n)
  • 89.8 (a)
Str.8453 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25584 35
zebrafish
(Danio rerio)
Actinopterygii chmp1a 35
  • 82.82 (n)
  • 88.27 (a)
zgc65914 35
chmp1a 36
  • 84 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID2 36
  • 45 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.15489 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8778 35
barley
(Hordeum vulgare)
Liliopsida Hv.5716 35
wheat
(Triticum aestivum)
Liliopsida Ta.6651 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3436 35
Species with no ortholog for CHMP1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for CHMP1A Gene

ENSEMBL:
Gene Tree for CHMP1A (if available)
TreeFam:
Gene Tree for CHMP1A (if available)

Paralogs for CHMP1A Gene

Paralogs for CHMP1A Gene

(3) SIMAP similar genes for CHMP1A Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for CHMP1A Gene

genes like me logo Genes that share paralogs with CHMP1A: view

Variants for CHMP1A Gene

Sequence variations from dbSNP and Humsavar for CHMP1A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs6860 -- 89,644,712(-) ACTGC(A/G)TTTGG nc-transcript-variant, utr-variant-3-prime
rs258334 -- 89,654,721(+) gcgga(A/T)catga intron-variant
rs258335 -- 89,654,536(+) CAgtc(A/G)ctcac intron-variant
rs258336 -- 89,654,423(+) AAAGT(G/T)CAGTA intron-variant
rs258337 -- 89,654,302(+) GCAAA(A/T)GTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHMP1A Gene

Variant ID Type Subtype PubMed ID
nsv907357 CNV Loss 21882294
nsv428331 CNV Gain+Loss 18775914
dgv3008n71 CNV Loss 21882294
dgv3009n71 CNV Loss 21882294
nsv509639 CNV Insertion 20534489
nsv907419 CNV Gain 21882294
nsv907420 CNV Loss 21882294
nsv907421 CNV Loss 21882294
esv26093 CNV Gain+Loss 19812545
esv1520837 CNV Insertion 17803354
esv2657571 CNV Deletion 23128226
esv2715189 CNV Deletion 23290073
esv2715190 CNV Deletion 23290073
esv2665924 CNV Deletion 23128226
nsv102951 CNV Loss 16902084
esv2715191 CNV Deletion 23290073
esv2715192 CNV Deletion 23290073
esv992091 CNV Deletion 20482838
esv2715193 CNV Deletion 23290073
esv2715194 CNV Deletion 23290073

Variation tolerance for CHMP1A Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHMP1A Gene

Human Gene Mutation Database (HGMD)
CHMP1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP1A Gene

Disorders for CHMP1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHMP1A Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 8
  • pontocerebellar hypoplasia type 8
borna disease
  • enzootic encephalomyelitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CHM1A_HUMAN
  • Pontocerebellar hypoplasia 8 (PCH8) [MIM:614961]: An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269 PubMed:23023333}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHMP1A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHMP1A
genes like me logo Genes that share disorders with CHMP1A: view

No data available for Genatlas for CHMP1A Gene

Publications for CHMP1A Gene

  1. CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression. (PMID: 11559747) Stauffer D.R. … Hollenberg S.M. (J. Cell Sci. 2001) 2 3 4 23 67
  2. Biochemical analyses of human IST1 and its function in cytokinesis. (PMID: 19129479) Bajorek M. … Sundquist W.I. (Mol. Biol. Cell 2009) 3 23
  3. Chmp1A functions as a novel tumor suppressor gene in human embryonic kidney and ductal pancreatic tumor cells. (PMID: 18787405) Li J. … Park M. (Cell Cycle 2008) 3 23
  4. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PMID: 16730941) Tsang H.T.H. … Sanderson C.M. (Genomics 2006) 3 23
  5. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PMID: 11559748) Howard T.L. … Hollenberg S.M. (J. Cell Sci. 2001) 2 3

Products for CHMP1A Gene

Sources for CHMP1A Gene

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