VPS4A (vacuolar protein sorting 4 homolog A)

2014-08-01   Dessen P  

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
379317222024CHMP4B and VSP4A reverse GSDMD-mediated pyroptosis by cell membrane remodeling in endometrial carcinoma.2
386878202024The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission.0
379317222024CHMP4B and VSP4A reverse GSDMD-mediated pyroptosis by cell membrane remodeling in endometrial carcinoma.2
386878202024The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission.0
360426962022Analysis of individual HIV-1 budding event using fast AFM reveals a multiplexed role for VPS4.5
360426962022Analysis of individual HIV-1 budding event using fast AFM reveals a multiplexed role for VPS4.5
334604842021VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.1
341450272021Vaccinia virus hijacks ESCRT-mediated multivesicular body formation for virus egress.10
342816222021The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei.10
334604842021VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.1
341450272021Vaccinia virus hijacks ESCRT-mediated multivesicular body formation for virus egress.10
342816222021The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei.10
319307232020Synthetic lethality between VPS4A and VPS4B triggers an inflammatory response in colorectal cancer.19
331865432020VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.14
331865452020De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.26

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-(vacuolar-protein-sorting-4-homolog-a)