VAC14 (VAC14 component of PIKFYVE complex)

2003-12-01  

Identity

HGNC
VAC14
LOCATION
16q22.1
LOCUSID
55697
ALIAS
ArPIKfyve,TAX1BP2,TRX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55697
MIM: 604632
HGNC: 25507
Ensembl: ENSG00000103043

Variants:

dbSNP: 55697
ClinVar: 55697
TCGA: ENSG00000103043
COSMIC: VAC14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103043ENST00000261776Q08AM6
ENSG00000103043ENST00000536184Q08AM6
ENSG00000103043ENST00000563662A0A087WT26
ENSG00000103043ENST00000566416H3BQD9
ENSG00000103043ENST00000567648J3QLC3
ENSG00000103043ENST00000568548H3BN23
ENSG00000103043ENST00000568886H3BUU8

Expression (GTEx)

0
5
10
15
20
25
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
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the early endosome membraneREACTOMER-HSA-1660516
Synthesis of PIPs at the late endosome membraneREACTOMER-HSA-1660517

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA449383docetaxelChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
175563712007Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex.81
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
189506392008ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.33
155428512004A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity.31
198409462009PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis.29
206308772010ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.22
272921122016Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.20
171613992006Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif.18
271436892016Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.16
245783852014The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway.15

Citation

Dessen P

VAC14 (VAC14 component of PIKFYVE complex)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/53316/vac14