Property Summary

NCBI Gene PubMed Count 29
PubMed Score 13.00
PubTator Score 20.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Disease log2 FC p
pancreatic cancer -1.400 1.1e-03
astrocytic glioma -2.100 6.9e-03
posterior fossa group B ependymoma -1.700 8.6e-08
oligodendroglioma -1.400 1.1e-02
cutaneous lupus erythematosus -1.100 2.4e-03
psoriasis 1.300 5.4e-04
glioblastoma -1.900 1.1e-05
osteosarcoma 3.499 6.1e-09
group 3 medulloblastoma -1.800 2.1e-03
atypical teratoid / rhabdoid tumor -1.800 1.9e-07
medulloblastoma, large-cell -1.800 8.5e-04
fascioscapulohumeral muscular dystrophy 1.192 2.7e-07
adrenocortical carcinoma 1.236 3.1e-05
intraductal papillary-mucinous adenoma (... 1.100 4.6e-03
intraductal papillary-mucinous carcinoma... 1.100 5.5e-03
lung adenocarcinoma -1.600 2.3e-12
adult high grade glioma -1.500 3.8e-03
pancreatic carcinoma -1.400 1.1e-03
spina bifida -1.319 2.7e-02
Pick disease -1.300 6.1e-03
ovarian cancer 1.600 1.1e-04
pituitary cancer -1.300 4.2e-03

 GWAS Trait (1)

Protein-protein Interaction (8)

Gene RIF (14)

PMID Text
26427389 Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium.
25050486 CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population.
24013816 This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
18164066 Independent of CFH genotype or smoking history, an individual's risk of AMD (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region.
18164066 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18079691 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18079691 Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1" risk alleles.
17884985 Observational study of gene-disease association. (HuGE Navigator)
17000705 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16174643 Observational study of gene-disease association. (HuGE Navigator)
16080115 PLEKHA1 is strongly implicated as primarily responsible for the evidence of linkage of age-related maculopathy (ARM) to the 10q26 locus and as a major contributor to ARM.susceptibility.
15485858 syntrophins regulate the localization of TAPP1, which may be important for remodeling the actin cytoskeleton in response to growth factor stimulation
14516276 TAPP1 binds to protein tyrosine phosphatase PTPL1.

AA Sequence

MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDA      1 - 70
TKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVS     71 - 140
YRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKR    141 - 210
RYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSW    211 - 280
IKAVSGAIVAQRGPGRSASSEHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAK    281 - 350
VKPGNFKVQTVSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASLPVSDV                    351 - 404
//

Text Mined References (33)

PMID Year Title
26427389 2016 Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?
25050486 2014 Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24013816 2013 Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18654987 2008 Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach.
18164066 2008 Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
18079691 2007 PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17884985 2007 A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
17823121 2007 Mechanistic basis of differential cellular responses of phosphatidylinositol 3,4-bisphosphate- and phosphatidylinositol 3,4,5-trisphosphate-binding pleckstrin homology domains.
17000705 2006 CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16174643 2005 Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
16080115 2005 Susceptibility genes for age-related maculopathy on chromosome 10q26.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15485858 2004 The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts with syntrophins and regulates actin cytoskeletal organization.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14516276 2003 Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12101241 2002 TAPP1 and TAPP2 are targets of phosphatidylinositol 3-kinase signaling in B cells: sustained plasma membrane recruitment triggered by the B-cell antigen receptor.
11802782 2002 Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo.
11513726 2001 Crystal structure of the phosphatidylinositol 3,4-bisphosphate-binding pleckstrin homology (PH) domain of tandem PH-domain-containing protein 1 (TAPP1): molecular basis of lipid specificity.
11001876 2000 Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities.