VPS4A (vacuolar protein sorting 4 homolog A)

2014-08-01  

Identity

HGNC
VPS4A
LOCATION
16q22.1
LOCUSID
27183
ALIAS
CIMDAG,SKD1,SKD1A,SKD2,VPS4,VPS4-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27183
MIM: 609982
HGNC: 13488
Ensembl: ENSG00000132612

Variants:

dbSNP: 27183
ClinVar: 27183
TCGA: ENSG00000132612
COSMIC: VPS4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132612ENST00000254950Q9UN37
ENSG00000132612ENST00000254950A0A024R705

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
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

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
179288622007ESCRT-III recognition by VPS4 ATPases.153
213940862011Live-cell visualization of dynamics of HIV budding site interactions with an ESCRT component.88
206160622010Human ESCRT-III and VPS4 proteins are required for centrosome and spindle maintenance.82
128609942003The ALG-2-interacting protein Alix associates with CHMP4b, a human homologue of yeast Snf7 that is involved in multivesicular body sorting.80
156321322005Interaction of the mammalian endosomal sorting complex required for transport (ESCRT) III protein hSnf7-1 with itself, membranes, and the AAA+ ATPase SKD1.75
161747322005Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A.72
186216832008Respiratory syncytial virus uses a Vps4-independent budding mechanism controlled by Rab11-FIP2.72
175538702007Hepatitis B virus maturation is sensitive to functional inhibition of ESCRT-III, Vps4, and gamma 2-adaptin.62
255343482014Mechanism of Ca²⁺-triggered ESCRT assembly and regulation of cell membrane repair.59
255036762015Vps4A functions as a tumor suppressor by regulating the secretion and uptake of exosomal microRNAs in human hepatoma cells.51

Citation

Dessen P

VPS4A (vacuolar protein sorting 4 homolog A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54768/vps4a