UniProtKB - Q9HD42 (CHM1A_HUMAN)
Charged multivesicular body protein 1a
CHMP1A
Functioni
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.
4 PublicationsCaution
GO - Molecular functioni
- identical protein binding Source: IntAct
- metallopeptidase activity Source: ProtInc
- protein domain specific binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- zinc ion binding Source: ProtInc
GO - Biological processi
- autophagosome maturation Source: ComplexPortal
- autophagy Source: ComplexPortal
- cell division Source: UniProtKB
- endosome transport via multivesicular body sorting pathway Source: GO_Central
- ESCRT III complex disassembly Source: ParkinsonsUK-UCL
- gene silencing Source: UniProtKB
- late endosome to lysosome transport Source: ComplexPortal
- late endosome to vacuole transport Source: GO_Central
- midbody abscission Source: UniProtKB
- mitotic chromosome condensation Source: UniProtKB
- mitotic metaphase plate congression Source: UniProtKB
- multivesicular body assembly Source: ParkinsonsUK-UCL
- multivesicular body sorting pathway Source: ComplexPortal
- negative regulation of cell cycle Source: UniProtKB
- negative regulation of cell death Source: ComplexPortal
- negative regulation of transcription, DNA-templated Source: UniProtKB
- nuclear membrane reassembly Source: ComplexPortal
- nucleus organization Source: UniProtKB
- plasma membrane repair Source: ComplexPortal
- protein transport Source: GO_Central
- regulation of centrosome duplication Source: UniProtKB
- regulation of mitotic spindle assembly Source: UniProtKB
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: ComplexPortal
- vesicle-mediated transport Source: UniProtKB
- viral budding from plasma membrane Source: ComplexPortal
- viral budding via host ESCRT complex Source: ComplexPortal
Keywordsi
Molecular function | Repressor |
Biological process | Cell cycle, Cell division, Protein transport, Transcription, Transcription regulation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9HD42 |
Reactomei | R-HSA-9610379, HCMV Late Events |
SignaLinki | Q9HD42 |
SIGNORi | Q9HD42 |
Protein family/group databases
MoonDBi | Q9HD42, Curated |
Names & Taxonomyi
Protein namesi | Recommended name: Charged multivesicular body protein 1aAlternative name(s): Chromatin-modifying protein 1a Short name: CHMP1a Vacuolar protein sorting-associated protein 46-1 Short name: Vps46-1 Short name: hVps46-1 |
Gene namesi | Name:CHMP1A Synonyms:CHMP11 Publication, KIAA00471 Publication, PCOLN3, PRSM11 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8740, CHMP1A |
MIMi | 164010, gene |
neXtProti | NX_Q9HD42 |
VEuPathDBi | HostDB:ENSG00000131165 |
Subcellular locationi
Nucleus
Endosome
Cytoplasm and Cytosol
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.
Cytoskeleton
- kinetochore microtubule Source: ComplexPortal
- microtubule organizing center Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Endosome
- early endosome Source: UniProtKB
- ESCRT III complex Source: GO_Central
- multivesicular body Source: GO_Central
- multivesicular body membrane Source: ComplexPortal
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal membrane Source: ComplexPortal
Nucleus
- condensed nuclear chromosome Source: UniProtKB
- nuclear matrix Source: UniProtKB
- nuclear pore Source: ComplexPortal
Plasma Membrane
- plasma membrane Source: ComplexPortal
Other locations
- amphisome membrane Source: ComplexPortal
- autophagosome membrane Source: ComplexPortal
- endomembrane system Source: UniProtKB
- kinetochore Source: ComplexPortal
- midbody Source: ComplexPortal
Keywords - Cellular componenti
Cytoplasm, Endosome, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 8 (PCH8)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 191 | L → A: No effect on interaction with IST1; when associated with L-194. 1 Publication | 1 | |
Mutagenesisi | 194 | L → A: No effect on interaction with IST1; when associated with L-194. 1 Publication | 1 |
Keywords - Diseasei
NeurodegenerationOrganism-specific databases
DisGeNETi | 5119 |
MalaCardsi | CHMP1A |
MIMi | 614961, phenotype |
OpenTargetsi | ENSG00000131165 |
Orphaneti | 324569, Pontocerebellar hypoplasia type 8 |
PharmGKBi | PA33085 |
Miscellaneous databases
Pharosi | Q9HD42, Tbio |
Genetic variation databases
BioMutai | CHMP1A |
DMDMi | 62510514 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000211448 | 1 – 196 | Charged multivesicular body protein 1aAdd BLAST | 196 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 101 | PhosphoserineCombined sources | 1 | |
Modified residuei | 173 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9HD42 |
jPOSTi | Q9HD42 |
MassIVEi | Q9HD42 |
MaxQBi | Q9HD42 |
PaxDbi | Q9HD42 |
PeptideAtlasi | Q9HD42 |
PRIDEi | Q9HD42 |
ProteomicsDBi | 81828 [Q9HD42-1] 81829 [Q9HD42-2] |
PTM databases
iPTMneti | Q9HD42 |
MetOSitei | Q9HD42 |
PhosphoSitePlusi | Q9HD42 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000131165, Expressed in right testis and 238 other tissues |
ExpressionAtlasi | Q9HD42, baseline and differential |
Genevisiblei | Q9HD42, HS |
Organism-specific databases
HPAi | ENSG00000131165, Low tissue specificity |
Interactioni
Subunit structurei
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. Self-associates.
Interacts with CHMP1B.
Interacts with VPS4A.
Interacts with VPS4B.
Interacts with PHF1.
Interacts with IST1.
Interacts with MITD1.
7 PublicationsBinary interactionsi
Q9HD42
Isoform 1 [Q9HD42-1]
With | #Exp. | IntAct |
---|---|---|
VPS4A [Q9UN37] | 2 | EBI-15663713,EBI-1171942 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein domain specific binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111148, 94 interactors |
ComplexPortali | CPX-329, ESCRT-III complex |
CORUMi | Q9HD42 |
DIPi | DIP-50647N |
IntActi | Q9HD42, 52 interactors |
MINTi | Q9HD42 |
STRINGi | 9606.ENSP00000380998 |
Miscellaneous databases
RNActi | Q9HD42, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9HD42 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9HD42 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 173 – 196 | DisorderedSequence analysisAdd BLAST | 24 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 5 – 47 | Sequence analysisAdd BLAST | 43 | |
Coiled coili | 102 – 124 | Sequence analysisAdd BLAST | 23 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 185 – 195 | MIT-interacting motifAdd BLAST | 11 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3232, Eukaryota |
GeneTreei | ENSGT00950000182832 |
HOGENOMi | CLU_080826_1_0_1 |
InParanoidi | Q9HD42 |
OMAi | NVDCARV |
PhylomeDBi | Q9HD42 |
TreeFami | TF300076 |
Family and domain databases
IDEALi | IID00253 |
InterProi | View protein in InterPro IPR029888, CHMP1A IPR005024, Snf7_fam |
PANTHERi | PTHR10476, PTHR10476, 1 hit PTHR10476:SF17, PTHR10476:SF17, 1 hit |
Pfami | View protein in Pfam PF03357, Snf7, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDDTLFQLKF TAKQLEKLAK KAEKDSKAEQ AKVKKALLQK NVECARVYAE
60 70 80 90 100
NAIRKKNEGV NWLRMASRVD AVASKVQTAV TMKGVTKNMA QVTKALDKAL
110 120 130 140 150
STMDLQKVSS VMDRFEQQVQ NLDVHTSVME DSMSSATTLT TPQEQVDSLI
160 170 180 190
MQIAEENGLE VLDQLSQLPE GASAVGESSV RSQEDQLSRR LAALRN
Computationally mapped potential isoform sequencesi
There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H875 | F5H875_HUMAN | Charged multivesicular body protein... | CHMP1A | 253 | Annotation score: | ||
A0A6Q8PG85 | A0A6Q8PG85_HUMAN | Charged multivesicular body protein... | CHMP1A | 199 | Annotation score: | ||
F8VUA2 | F8VUA2_HUMAN | Charged multivesicular body protein... | CHMP1A | 181 | Annotation score: | ||
A0A6Q8PF35 | A0A6Q8PF35_HUMAN | Charged multivesicular body protein... | CHMP1A | 154 | Annotation score: | ||
A0A6Q8PFX8 | A0A6Q8PFX8_HUMAN | Charged multivesicular body protein... | CHMP1A | 132 | Annotation score: | ||
A0A6Q8PFF9 | A0A6Q8PFF9_HUMAN | Charged multivesicular body protein... | CHMP1A | 383 | Annotation score: | ||
F8VVT7 | F8VVT7_HUMAN | Charged multivesicular body protein... | CHMP1A | 187 | Annotation score: | ||
A0A6Q8PGM8 | A0A6Q8PGM8_HUMAN | Charged multivesicular body protein... | CHMP1A | 113 | Annotation score: | ||
A0A6Q8PHU0 | A0A6Q8PHU0_HUMAN | Charged multivesicular body protein... | CHMP1A | 147 | Annotation score: | ||
A0A6Q8PFF8 | A0A6Q8PFF8_HUMAN | Charged multivesicular body protein... | CHMP1A | 265 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 77 | Q → D in AAC50775 (PubMed:8863740).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_051716 | 1 – 128 | Missing in isoform 2. 1 PublicationAdd BLAST | 128 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U58048 mRNA Translation: AAC50775.1 Sequence problems. AF281063 mRNA Translation: AAG01448.1 D38554 mRNA Translation: BAA07557.1 Sequence problems. BT006841 mRNA Translation: AAP35487.1 AC010538 Genomic DNA No translation available. BC007527 mRNA No translation available. BC010000 mRNA Translation: AAH10000.2 BC132711 mRNA Translation: AAI32712.1 BC132713 mRNA Translation: AAI32714.1 |
CCDSi | CCDS45552.1 [Q9HD42-1] |
PIRi | JC4963 |
RefSeqi | NP_002759.2, NM_002768.4 [Q9HD42-1] |
Genome annotation databases
Ensembli | ENST00000397901; ENSP00000380998; ENSG00000131165 |
GeneIDi | 5119 |
KEGGi | hsa:5119 |
MANE-Selecti | ENST00000397901.8; ENSP00000380998.3; NM_002768.5; NP_002759.2 |
UCSCi | uc002fnu.5, human [Q9HD42-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U58048 mRNA Translation: AAC50775.1 Sequence problems. AF281063 mRNA Translation: AAG01448.1 D38554 mRNA Translation: BAA07557.1 Sequence problems. BT006841 mRNA Translation: AAP35487.1 AC010538 Genomic DNA No translation available. BC007527 mRNA No translation available. BC010000 mRNA Translation: AAH10000.2 BC132711 mRNA Translation: AAI32712.1 BC132713 mRNA Translation: AAI32714.1 |
CCDSi | CCDS45552.1 [Q9HD42-1] |
PIRi | JC4963 |
RefSeqi | NP_002759.2, NM_002768.4 [Q9HD42-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2JQ9 | NMR | - | B | 180-196 | [»] | |
2YMB | X-ray | 3.40 | F/H | 184-196 | [»] | |
4A5X | X-ray | 1.91 | C/D | 184-196 | [»] | |
SMRi | Q9HD42 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111148, 94 interactors |
ComplexPortali | CPX-329, ESCRT-III complex |
CORUMi | Q9HD42 |
DIPi | DIP-50647N |
IntActi | Q9HD42, 52 interactors |
MINTi | Q9HD42 |
STRINGi | 9606.ENSP00000380998 |
Protein family/group databases
MoonDBi | Q9HD42, Curated |
PTM databases
iPTMneti | Q9HD42 |
MetOSitei | Q9HD42 |
PhosphoSitePlusi | Q9HD42 |
Genetic variation databases
BioMutai | CHMP1A |
DMDMi | 62510514 |
Proteomic databases
EPDi | Q9HD42 |
jPOSTi | Q9HD42 |
MassIVEi | Q9HD42 |
MaxQBi | Q9HD42 |
PaxDbi | Q9HD42 |
PeptideAtlasi | Q9HD42 |
PRIDEi | Q9HD42 |
ProteomicsDBi | 81828 [Q9HD42-1] 81829 [Q9HD42-2] |
Protocols and materials databases
Antibodypediai | 1706, 237 antibodies from 27 providers |
DNASUi | 5119 |
Genome annotation databases
Ensembli | ENST00000397901; ENSP00000380998; ENSG00000131165 |
GeneIDi | 5119 |
KEGGi | hsa:5119 |
MANE-Selecti | ENST00000397901.8; ENSP00000380998.3; NM_002768.5; NP_002759.2 |
UCSCi | uc002fnu.5, human [Q9HD42-1] |
Organism-specific databases
CTDi | 5119 |
DisGeNETi | 5119 |
GeneCardsi | CHMP1A |
HGNCi | HGNC:8740, CHMP1A |
HPAi | ENSG00000131165, Low tissue specificity |
MalaCardsi | CHMP1A |
MIMi | 164010, gene 614961, phenotype |
neXtProti | NX_Q9HD42 |
OpenTargetsi | ENSG00000131165 |
Orphaneti | 324569, Pontocerebellar hypoplasia type 8 |
PharmGKBi | PA33085 |
VEuPathDBi | HostDB:ENSG00000131165 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3232, Eukaryota |
GeneTreei | ENSGT00950000182832 |
HOGENOMi | CLU_080826_1_0_1 |
InParanoidi | Q9HD42 |
OMAi | NVDCARV |
PhylomeDBi | Q9HD42 |
TreeFami | TF300076 |
Enzyme and pathway databases
PathwayCommonsi | Q9HD42 |
Reactomei | R-HSA-9610379, HCMV Late Events |
SignaLinki | Q9HD42 |
SIGNORi | Q9HD42 |
Miscellaneous databases
BioGRID-ORCSi | 5119, 322 hits in 1049 CRISPR screens |
ChiTaRSi | CHMP1A, human |
EvolutionaryTracei | Q9HD42 |
GeneWikii | CHMP1A |
GenomeRNAii | 5119 |
Pharosi | Q9HD42, Tbio |
PROi | PR:Q9HD42 |
RNActi | Q9HD42, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131165, Expressed in right testis and 238 other tissues |
ExpressionAtlasi | Q9HD42, baseline and differential |
Genevisiblei | Q9HD42, HS |
Family and domain databases
IDEALi | IID00253 |
InterProi | View protein in InterPro IPR029888, CHMP1A IPR005024, Snf7_fam |
PANTHERi | PTHR10476, PTHR10476, 1 hit PTHR10476:SF17, PTHR10476:SF17, 1 hit |
Pfami | View protein in Pfam PF03357, Snf7, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CHM1A_HUMAN | |
Accessioni | Q9HD42Primary (citable) accession number: Q9HD42 Secondary accession number(s): A2RU09 Q96G31 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 12, 2005 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 168 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families