Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
59338
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHA1
Synonyms (NCBI Gene) Gene synonyms aliases
TAPP1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signalin
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016210 hsa-miR-590-3p Sequencing 20371350
MIRT017173 hsa-miR-335-5p Microarray 18185580
MIRT022329 hsa-miR-124-3p Microarray 18668037
MIRT028076 hsa-miR-93-5p Sequencing 20371350
MIRT028276 hsa-miR-32-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001553 Process Luteinization IEA
GO:0005515 Function Protein binding IPI 11802782, 18654987
GO:0005543 Function Phospholipid binding IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607772 14335 ENSG00000107679
Protein
UniProt ID Q9HB21
Protein name Pleckstrin homology domain-containing family A member 1 (PH domain-containing family A member 1) (Tandem PH domain-containing protein 1) (TAPP-1)
Protein function Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane. {ECO:0000269|PubMed:11001876, ECO:0000269|PubMed:11513726, ECO:0000269|PubMed:145162
PDB 1EAZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 8 112 PH domain Domain
PF00169 PH 192 289 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon. {ECO:0000269|
Sequence
MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIK
LTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIK
ITVPKQSD
SQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLP
YFTPKPPQDSAVIKAGYCVKQGAVMKNWKRRYFQLDENTIGYFKSELEKEPLRVIPLKEV
HKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIV
AQRGPGRSASS
EHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAKVKPGNFKVQT
VSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASLPVSDV
Sequence length 404
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PIPs at the plasma membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 37634885
Autism Spectrum Disorder Associate 36320054
Depressive Disorder Associate 29280852
Diabetes Mellitus Associate 30172742
Diabetes Mellitus Type 2 Associate 29280852, 30172742, 38152129
Diabetic Nephropathies Stimulate 37143982
Intellectual Disability Associate 36320054
Leukemia Lymphocytic Chronic B Cell Associate 37629695
Macular Degeneration Associate 16080115, 28659708, 29565837
Macular Degeneration Inhibit 29565837