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Protein

Charged multivesicular body protein 1a

Gene

CHMP1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

  • metallopeptidase activity Source: ProtInc
  • protein domain specific binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • zinc ion binding Source: ProtInc

GO - Biological processi

  • cell division Source: UniProtKB
  • cell separation after cytokinesis Source: UniProtKB
  • ESCRT III complex disassembly Source: ParkinsonsUK-UCL
  • gene silencing Source: UniProtKB
  • mitotic chromosome condensation Source: UniProtKB
  • mitotic metaphase plate congression Source: UniProtKB
  • multivesicular body assembly Source: ParkinsonsUK-UCL
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription by glucose Source: UniProtKB
  • nucleus organization Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • regulation of centrosome duplication Source: UniProtKB
  • regulation of mitotic spindle assembly Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
  • vacuolar transport Source: InterPro
  • vesicle-mediated transport Source: UniProtKB
  • viral budding via host ESCRT complex Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Cell cycle, Cell division, Protein transport, Transcription, Transcription regulation, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Charged multivesicular body protein 1a
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:8740. CHMP1A.

Subcellular locationi

  • 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.

GO - Cellular componenti

  • condensed nuclear chromosome Source: UniProtKB
  • early endosome Source: UniProtKB
  • endomembrane system Source: UniProtKB
  • ESCRT III complex Source: InterPro
  • extracellular exosome Source: UniProtKB
  • microtubule organizing center Source: UniProtKB
  • nuclear matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pontocerebellar hypoplasia 8 (PCH8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614961

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi191L → A: No effect on interaction with IST1; when associated with L-194. 1 Publication1
Mutagenesisi194L → A: No effect on interaction with IST1; when associated with L-194. 1 Publication1

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNETi5119.
MalaCardsiCHMP1A.
MIMi614961. phenotype.
OpenTargetsiENSG00000131165.
Orphaneti324569. Pontocerebellar hypoplasia type 8.
PharmGKBiPA33085.

Polymorphism and mutation databases

DMDMi62510514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002114481 – 196Charged multivesicular body protein 1aAdd BLAST196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei101PhosphoserineCombined sources1
Modified residuei173PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9HD42.
MaxQBiQ9HD42.
PaxDbiQ9HD42.
PeptideAtlasiQ9HD42.
PRIDEiQ9HD42.

PTM databases

iPTMnetiQ9HD42.
PhosphoSitePlusiQ9HD42.

Expressioni

Tissue specificityi

Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63.1 Publication

Inductioni

By muristerone.1 Publication

Gene expression databases

BgeeiENSG00000131165.
CleanExiHS_CHMP1A.
ExpressionAtlasiQ9HD42. baseline and differential.
GenevisibleiQ9HD42. HS.

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 sequentally. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-1057156,EBI-1057156
STAMBPO956306EBI-1057156,EBI-396676
USP8P408183EBI-1057156,EBI-1050865
VPS4AQ9UN376EBI-1057156,EBI-1171942

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi111148. 46 interactors.
DIPiDIP-50647N.
IntActiQ9HD42. 25 interactors.
MINTiMINT-6946738.
STRINGi9606.ENSP00000380998.

Structurei

Secondary structure

1196
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi184 – 195Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JQ9NMR-B180-196[»]
2YMBX-ray3.40F/H184-196[»]
4A5XX-ray1.91C/D184-196[»]
ProteinModelPortaliQ9HD42.
SMRiQ9HD42.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HD42.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili5 – 47Sequence analysisAdd BLAST43
Coiled coili102 – 124Sequence analysisAdd BLAST23

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi185 – 195MIT-interacting motifAdd BLAST11

Sequence similaritiesi

Belongs to the SNF7 family.Sequence analysis

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3232. Eukaryota.
COG5491. LUCA.
GeneTreeiENSGT00550000074957.
HOGENOMiHOG000241980.
HOVERGENiHBG080200.
InParanoidiQ9HD42.
KOiK12197.
OMAiNVDCARV.
OrthoDBiEOG091G0S04.
PhylomeDBiQ9HD42.
TreeFamiTF300076.

Family and domain databases

InterProiIPR029888. CHMP1A.
IPR005024. Snf7_fam.
[Graphical view]
PANTHERiPTHR10476:SF17. PTHR10476:SF17. 1 hit.
PfamiPF03357. Snf7. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q9HD42-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:196
Mass (Da):21,703
Last modified:March 1, 2001 - v1
Checksum:i85D0ED7D10828D60
GO
Isoform 2Curated (identifier: Q9HD42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:68
Mass (Da):7,363
Checksum:iF58834B1C0E254DB
GO

Sequence cautioni

The sequence AAC50775 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated
The sequence BAA07557 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti77Q → D in AAC50775 (PubMed:8863740).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0517161 – 128Missing in isoform 2. 1 PublicationAdd BLAST128

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.
CCDSiCCDS45552.1. [Q9HD42-1]
PIRiJC4963.
RefSeqiNP_002759.2. NM_002768.4. [Q9HD42-1]
UniGeneiHs.589427.

Genome annotation databases

EnsembliENST00000397901; ENSP00000380998; ENSG00000131165. [Q9HD42-1]
GeneIDi5119.
KEGGihsa:5119.
UCSCiuc002fnu.5. human. [Q9HD42-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS45552.1. [Q9HD42-1]
PIRiJC4963.
RefSeqiNP_002759.2. NM_002768.4. [Q9HD42-1]
UniGeneiHs.589427.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JQ9NMR-B180-196[»]
2YMBX-ray3.40F/H184-196[»]
4A5XX-ray1.91C/D184-196[»]
ProteinModelPortaliQ9HD42.
SMRiQ9HD42.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111148. 46 interactors.
DIPiDIP-50647N.
IntActiQ9HD42. 25 interactors.
MINTiMINT-6946738.
STRINGi9606.ENSP00000380998.

PTM databases

iPTMnetiQ9HD42.
PhosphoSitePlusiQ9HD42.

Polymorphism and mutation databases

DMDMi62510514.

Proteomic databases

EPDiQ9HD42.
MaxQBiQ9HD42.
PaxDbiQ9HD42.
PeptideAtlasiQ9HD42.
PRIDEiQ9HD42.

Protocols and materials databases

DNASUi5119.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397901; ENSP00000380998; ENSG00000131165. [Q9HD42-1]
GeneIDi5119.
KEGGihsa:5119.
UCSCiuc002fnu.5. human. [Q9HD42-1]

Organism-specific databases

CTDi5119.
DisGeNETi5119.
GeneCardsiCHMP1A.
H-InvDBHIX0013363.
HGNCiHGNC:8740. CHMP1A.
MalaCardsiCHMP1A.
MIMi164010. gene.
614961. phenotype.
neXtProtiNX_Q9HD42.
OpenTargetsiENSG00000131165.
Orphaneti324569. Pontocerebellar hypoplasia type 8.
PharmGKBiPA33085.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3232. Eukaryota.
COG5491. LUCA.
GeneTreeiENSGT00550000074957.
HOGENOMiHOG000241980.
HOVERGENiHBG080200.
InParanoidiQ9HD42.
KOiK12197.
OMAiNVDCARV.
OrthoDBiEOG091G0S04.
PhylomeDBiQ9HD42.
TreeFamiTF300076.

Miscellaneous databases

ChiTaRSiCHMP1A. human.
EvolutionaryTraceiQ9HD42.
GeneWikiiCHMP1A.
GenomeRNAii5119.
PROiQ9HD42.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131165.
CleanExiHS_CHMP1A.
ExpressionAtlasiQ9HD42. baseline and differential.
GenevisibleiQ9HD42. HS.

Family and domain databases

InterProiIPR029888. CHMP1A.
IPR005024. Snf7_fam.
[Graphical view]
PANTHERiPTHR10476:SF17. PTHR10476:SF17. 1 hit.
PfamiPF03357. Snf7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCHM1A_HUMAN
AccessioniPrimary (citable) accession number: Q9HD42
Secondary accession number(s): A2RU09
, Q14468, Q15779, Q96G31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Caution

Was originally (PubMed:8863740) thought to be a metalloprotease (PRSM1). This was based on a wrong translation of the ORF which gave rise to a putative protein of 318 AA containing a pattern reminiscent of zinc metalloproteases.1 Publication

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.