VPS13A (vacuolar protein sorting 13 homolog A)

2012-02-01  

Identity

HGNC
VPS13A
LOCATION
9q21.2
LOCUSID
23230
ALIAS
CHAC,CHOREIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23230
MIM: 605978
HGNC: 1908
Ensembl: ENSG00000197969

Variants:

dbSNP: 23230
ClinVar: 23230
TCGA: ENSG00000197969
COSMIC: VPS13A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197969ENST00000360280Q96RL7
ENSG00000197969ENST00000376636Q96RL7
ENSG00000197969ENST00000419472H0Y7P8
ENSG00000197969ENST00000467124H0YG53
ENSG00000197969ENST00000493341H0YF78
ENSG00000197969ENST00000643348Q96RL7
ENSG00000197969ENST00000645632Q96RL7

Expression (GTEx)

0
5
10
15
20
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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
300934932018VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.58
259964712015TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.30
222272962012Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis.24
215983782011Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.19
235687752013Chorein sensitivity of cytoskeletal organization and degranulation of platelets.15
241291862013Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.14
217335612012Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability.13
220385642012Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.11
307416342019Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.9

Citation

Dessen P

VPS13A (vacuolar protein sorting 13 homolog A)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52602/vps13a