CHMP1A
Charged multivesicular body protein 1a
Also known as: CHM1A_HUMAN, CHMP1, KIAA0047, PCOLN3, PRSM1, Vps46A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HD42
- Gene
- CHMP1A
- Ensembl
- ENSG00000131165
- Chromosome
- 16
- Canonical length
- 196 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
196 residues, UniProt reviewed canonical sequence.
>Q9HD42|CHMP1A
1 MDDTLFQLKF TAKQLEKLAK KAEKDSKAEQ AKVKKALLQK NVECARVYAE NAIRKKNEGV
61 NWLRMASRVD AVASKVQTAV TMKGVTKNMA QVTKALDKAL STMDLQKVSS VMDRFEQQVQ
121 NLDVHTSVME DSMSSATTLT TPQEQVDSLI MQIAEENGLE VLDQLSQLPE GASAVGESSV
181 RSQEDQLSRR LAALRNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHMP1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 72 nTPM
- cerebral cortex: 56 nTPM
- hippocampal formation: 54 nTPM
- amygdala: 54 nTPM
- skin: 53 nTPM
- skeletal muscle: 51 nTPM
Single-cell type
- esophageal apical cells: 271 nCPM
- late spermatids: 208 nCPM
- esophageal suprabasal cells: 146 nCPM
- colonocytes: 115 nCPM
- enterocytes: 107 nCPM
- extravillous trophoblasts: 93 nCPM
Immune cell
- eosinophil: 109 nTPM
- neutrophil: 86 nTPM
- non-classical monocyte: 83 nTPM
- basophil: 67 nTPM
- total PBMC: 64 nTPM
- intermediate monocyte: 63 nTPM
Brain region
- hippocampal formation: 35 nTPM
- amygdala: 35 nTPM
- thalamus: 34 nTPM
- cerebral cortex: 34 nTPM
- medulla oblongata: 32 nTPM
- hypothalamus: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHMP1A.
Disease | AllUniProt
Conditions CHMP1A is implicated in, by any mechanism.
- Pontocerebellar hypoplasia 8 (PCH8) MIM:614961
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 270 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pontocerebellar hypoplasia type 8
- Pontoneocerebellar hypoplasia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.18
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.76
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome maturation
- autophagy
- cell division
- endosome transport via multivesicular body sorting pathway
- ESCRT III complex disassembly
- late endosome to lysosome transport
- late endosome to vacuole transport
- membrane fission
- midbody abscission
- mitotic chromosome condensation
- mitotic metaphase chromosome alignment
- multivesicular body assembly
- multivesicular body sorting pathway
- multivesicular body-lysosome fusion
- negative regulation of gene expression
- nuclear membrane reassembly
- nucleus organization
- plasma membrane repair
- protein transport
- regulation of centrosome duplication
- regulation of mitotic spindle assembly
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- vesicle fusion with vacuole
- vesicle-mediated transport
- viral budding from plasma membrane
- viral budding via host ESCRT complex
Molecular functions
- identical protein binding
- metallopeptidase activity
- protein domain specific binding
- protein homodimerization activity
- zinc ion binding
Cellular components
- amphisome membrane
- autophagosome membrane
- condensed nuclear chromosome
- cytosol
- early endosome
- endomembrane system
- ESCRT III complex
- extracellular exosome
- kinetochore
- kinetochore microtubule
- lysosomal membrane
- microtubule organizing center
- midbody
- multivesicular body
- multivesicular body membrane
- nuclear matrix
- nuclear pore
- plasma membrane
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHMP1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHMP1A as an antibody target. Whether an autoantibody or antibody against CHMP1A could matter depends on whether native CHMP1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHMP1A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHMP1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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