PLEKHA1 (pleckstrin homology domain containing A1)

2007-04-01  

Identity

HGNC
PLEKHA1
LOCATION
10q26.13
LOCUSID
59338
ALIAS
TAPP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 59338
MIM: 607772
HGNC: 14335
Ensembl: ENSG00000107679

Variants:

dbSNP: 59338
ClinVar: 59338
TCGA: ENSG00000107679
COSMIC: PLEKHA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107679ENST00000368988Q9HB21
ENSG00000107679ENST00000368989Q5RGS4
ENSG00000107679ENST00000368990Q9HB21
ENSG00000107679ENST00000392799Q9HB21
ENSG00000107679ENST00000433307Q9HB21
ENSG00000107679ENST00000463663R4GMZ9

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

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
295658372018Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population.2
295658372018Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population.2
264273892016Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?3
264273892016Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?3
250504862014Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.3
250504862014Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.3
240138162013Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.8
240138162013Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.8
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.16
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.16
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.58
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.58
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.58
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.58
178849852007A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.183

Citation

Dessen P

PLEKHA1 (pleckstrin homology domain containing A1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46694/plekha1-(pleckstrin-homology-domain-containing-a1)