CHMP4A (charged multivesicular body protein 4A)

2014-11-01  

Identity

HGNC
CHMP4A
LOCATION
14q12
LOCUSID
29082
ALIAS
C14orf123,CHMP4,CHMP4B,HSPC134,SHAX2,SNF7,SNF7-1,VPS32-1,VPS32A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29082
MIM: 610051
HGNC: 20274
Ensembl: ENSG00000254505

Variants:

dbSNP: 29082
ClinVar: 29082
TCGA: ENSG00000254505
COSMIC: CHMP4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254505ENST00000347519Q9BY43
ENSG00000254505ENST00000530996H0YIN6
ENSG00000254505ENST00000533011E9PQ80
ENSG00000254505ENST00000533523E9PQI5
ENSG00000254505ENST00000534106H0YI89

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
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
348511412022Roles of ESCRT Proteins ALIX and CHMP4A and Their Interplay with Interferon-Stimulated Gene 15 during Tick-Borne Flavivirus Infection.7
348511412022Roles of ESCRT Proteins ALIX and CHMP4A and Their Interplay with Interferon-Stimulated Gene 15 during Tick-Borne Flavivirus Infection.7
235272012013Alix serves as an adaptor that allows human parainfluenza virus type 1 to interact with the host cell ESCRT system.11
235272012013Alix serves as an adaptor that allows human parainfluenza virus type 1 to interact with the host cell ESCRT system.11
222582542012Regulation of CHMP4/ESCRT-III function in human immunodeficiency virus type 1 budding by CC2D1A.19
222582542012Regulation of CHMP4/ESCRT-III function in human immunodeficiency virus type 1 budding by CC2D1A.19
219750122011ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons.9
219750122011ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons.9
208888382010High-throughput screening identifies CHMP4A associated with hypoxia-inducible factor 1.5
208888382010High-throughput screening identifies CHMP4A associated with hypoxia-inducible factor 1.5
182091002008Plasma membrane deformation by circular arrays of ESCRT-III protein filaments.246
185115622008ALIX-CHMP4 interactions in the human ESCRT pathway.130
182091002008Plasma membrane deformation by circular arrays of ESCRT-III protein filaments.246
185115622008ALIX-CHMP4 interactions in the human ESCRT pathway.130
175477052007Structure/function analysis of four core ESCRT-III proteins reveals common regulatory role for extreme C-terminal domain.120

Citation

Dessen P

CHMP4A (charged multivesicular body protein 4A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61805/deep-insight-explorer/favicon/teaching-explorer/