CHMP1A (charged multivesicular body protein 1A)

2008-12-01 Affiliation

Identity

HGNC

CHMP1A

LOCATION

16q24.3

LOCUSID

5119

ALIAS

CHMP1,PCH8,PCOLN3,PRSM1,VPS46-1,VPS46A

FUSION GENES

Show Gene Fusions

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)

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

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
17711858	2007	The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation.	63
19640981	2009	Human cytomegalovirus exploits ESCRT machinery in the process of virion maturation.	43
23023333	2012	CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.	28
18787405	2008	Chmp1A functions as a novel tumor suppressor gene in human embryonic kidney and ductal pancreatic tumor cells.	14
30044992	2018	The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.	9
23273016	2012	Detection of a common chimeric transcript between human chromosomes 7 and 16.	8
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.	4
22261332	2012	Chmp1A acts as a tumor suppressor gene that inhibits proliferation of renal cell carcinoma.	4
23748770	2013	Identification of phosphorylation sites in the C-terminal region of charged multivesicular body protein 1A (CHMP1A).	2
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.	2

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