PLEKHA3 (pleckstrin homology domain containing A3)

2007-04-01  

Identity

HGNC
PLEKHA3
LOCATION
2q31.2
LOCUSID
65977
ALIAS
FAPP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65977
MIM: 607774
HGNC: 14338
Ensembl: ENSG00000116095

Variants:

dbSNP: 65977
ClinVar: 65977
TCGA: ENSG00000116095
COSMIC: PLEKHA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116095ENST00000234453Q9HB20
ENSG00000116095ENST00000421187H7C0Q0
ENSG00000116095ENST00000453653F8WCR7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499

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
151078602004FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P.200
214547002011Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain.41
203001182010Structural basis of wedging the Golgi membrane by FAPP pleckstrin homology domains.32
244622512014Interaction of Fapp1 with Arf1 and PI4P at a membrane surface: an example of coincidence detection.10
306590992019The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.9
212985642011Secondary structure and 1H, 13C, 15N resonance assignments of the Golgi-specific PH domain of FAPP1.0

Citation

Dessen P

PLEKHA3 (pleckstrin homology domain containing A3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47267/plekha3