Identity
HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
CHMP1,PCH8,PCOLN3,PRSM1,VPS46-1,VPS46A
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5119
MIM: 164010
HGNC: 8740
Ensembl: ENSG00000131165
Variants:
dbSNP: 5119
ClinVar: 5119
TCGA: ENSG00000131165
COSMIC: CHMP1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000131165 | ENST00000397901 | Q9HD42 |
| ENSG00000131165 | ENST00000535997 | F5H875 |
| ENSG00000131165 | ENST00000549328 | F8VUA2 |
| ENSG00000131165 | ENST00000550102 | F8VVT7 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
| ESCRT-III complex | KEGG | hsa_M00412 |
| ESCRT-III complex | KEGG | M00412 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34426578 | 2021 | A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis. | 31 |
| 34426578 | 2021 | A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis. | 31 |
| 29247346 | 2018 | The TT genotype of the rs6860 polymorphism of the charged multivesicular body protein 1A gene is associated with susceptibility to fibromyalgia in southern Spanish women. | 4 |
| 30044992 | 2018 | The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. | 44 |
| 29247346 | 2018 | The TT genotype of the rs6860 polymorphism of the charged multivesicular body protein 1A gene is associated with susceptibility to fibromyalgia in southern Spanish women. | 4 |
| 30044992 | 2018 | The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. | 44 |
| 23748770 | 2013 | Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A). | 2 |
| 23748770 | 2013 | Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A). | 2 |
| 22261332 | 2012 | Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma. | 8 |
| 23023333 | 2012 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. | 45 |
| 23273016 | 2012 | Detection of a common chimeric transcript between human chromosomes 7 and 16. | 11 |
| 22261332 | 2012 | Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma. | 8 |
| 23023333 | 2012 | CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. | 45 |
| 23273016 | 2012 | Detection of a common chimeric transcript between human chromosomes 7 and 16. | 11 |
| 21705858 | 2011 | Chromatin modifying protein 1A (Chmp1A) of the endosomal sorting complex required for transport (ESCRT)-III family activates ataxia telangiectasia mutated (ATM) for PanC-1 cell growth inhibition. | 6 |
Citation
Dessen P
CHMP1A (charged multivesicular body protein 1A)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50500/chmp1a
