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Protein

Charged multivesicular body protein 1a

Gene

CHMP1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

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

Keywordsi

Molecular functionRepressor
Biological processCell cycle, Cell division, Protein transport, Transcription, Transcription regulation, Transport

Protein family/group databases

MoonDBiQ9HD42 Curated

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

EuPathDBiHostDB:ENSG00000131165.14
HGNCiHGNC:8740 CHMP1A
MIMi164010 gene
neXtProtiNX_Q9HD42

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi81828
81829 [Q9HD42-2]

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 Expressed in 227 organ(s), highest expression level in right testis
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 sequentially. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1.7 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111148, 49 interactors
ComplexPortaliCPX-329 ESCRT-III complex
CORUMiQ9HD42
DIPiDIP-50647N
IntActiQ9HD42, 36 interactors
MINTiQ9HD42
STRINGi9606.ENSP00000380998

Structurei

Secondary structure

1196
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiKFASKQM
OrthoDBiEOG091G0S04
PhylomeDBiQ9HD42
TreeFamiTF300076

Family and domain databases

InterProiView protein in InterPro
IPR029888 CHMP1A
IPR005024 Snf7_fam
PANTHERiPTHR10476:SF17 PTHR10476:SF17, 1 hit
PfamiView protein in Pfam
PF03357 Snf7, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VUA2F8VUA2_HUMAN
Charged multivesicular body protein...
CHMP1A
181Annotation score:
F8VVT7F8VVT7_HUMAN
Charged multivesicular body protein...
CHMP1A
187Annotation score:
F5H875F5H875_HUMAN
Charged multivesicular body protein...
CHMP1A
132Annotation score:

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

Similar 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
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, 49 interactors
ComplexPortaliCPX-329 ESCRT-III complex
CORUMiQ9HD42
DIPiDIP-50647N
IntActiQ9HD42, 36 interactors
MINTiQ9HD42
STRINGi9606.ENSP00000380998

Protein family/group databases

MoonDBiQ9HD42 Curated

PTM databases

iPTMnetiQ9HD42
PhosphoSitePlusiQ9HD42

Polymorphism and mutation databases

DMDMi62510514

Proteomic databases

EPDiQ9HD42
MaxQBiQ9HD42
PaxDbiQ9HD42
PeptideAtlasiQ9HD42
PRIDEiQ9HD42
ProteomicsDBi81828
81829 [Q9HD42-2]

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
EuPathDBiHostDB:ENSG00000131165.14
GeneCardsiCHMP1A
H-InvDBiHIX0013363
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
OMAiKFASKQM
OrthoDBiEOG091G0S04
PhylomeDBiQ9HD42
TreeFamiTF300076

Miscellaneous databases

ChiTaRSiCHMP1A human
EvolutionaryTraceiQ9HD42
GeneWikiiCHMP1A
GenomeRNAii5119
PROiPR:Q9HD42
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131165 Expressed in 227 organ(s), highest expression level in right testis
CleanExiHS_CHMP1A
ExpressionAtlasiQ9HD42 baseline and differential
GenevisibleiQ9HD42 HS

Family and domain databases

InterProiView protein in InterPro
IPR029888 CHMP1A
IPR005024 Snf7_fam
PANTHERiPTHR10476:SF17 PTHR10476:SF17, 1 hit
PfamiView protein in Pfam
PF03357 Snf7, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCHM1A_HUMAN
AccessioniPrimary (citable) accession number: Q9HD42
Secondary accession number(s): A2RU09
, Q14468, Q15779, Q96G31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 148 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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