CHMP1A (charged multivesicular body protein 1A)

2008-12-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
CHMP1,PCH8,PCOLN3,PRSM1,VPS46-1,VPS46A
FUSION GENES

Other Information

Locus ID:

NCBI: 5119
MIM: 164010
HGNC: 8740
Ensembl: ENSG00000131165

Variants:

dbSNP: 5119
ClinVar: 5119
TCGA: ENSG00000131165
COSMIC: CHMP1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131165ENST00000397901Q9HD42
ENSG00000131165ENST00000535997F5H875
ENSG00000131165ENST00000549328F8VUA2
ENSG00000131165ENST00000550102F8VVT7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412

References

Pubmed IDYearTitleCitations
344265782021A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.31
344265782021A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.31
292473462018The 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
300449922018The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.44
292473462018The 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
300449922018The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.44
237487702013Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A).2
237487702013Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A).2
222613322012Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma.8
230233332012CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.45
232730162012Detection of a common chimeric transcript between human chromosomes 7 and 16.11
222613322012Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma.8
230233332012CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.45
232730162012Detection of a common chimeric transcript between human chromosomes 7 and 16.11
217058582011Chromatin 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/css/js/template.js