PLEKHA1 (pleckstrin homology domain containing A1)

2007-04-01  

Identity

HGNC
LOCATION
10q26.13
LOCUSID
ALIAS
TAPP1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
161746432005Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.263
160801152005Susceptibility genes for age-related maculopathy on chromosome 10q26.211
178849852007A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.160
170007052006CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.52
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.44
181640662008Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.44
154858582004The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts with syntrophins and regulates actin cytoskeletal organization.21
180796912007PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.20
180796912007PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.20
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13

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