CHMP1A (charged multivesicular body protein 1A)

2008-12-01  

Identity

HGNC
CHMP1A
LOCATION
16q24.3
LOCUSID
5119
ALIAS
CHMP1,PCH8,PCOLN3,PRSM1,VPS46-1,VPS46A
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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/chmp1a-(charged-multivesicular-body-protein-1a)