PLEKHA1 (pleckstrin homology domain containing A1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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59338 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Pleckstrin homology domain containing A1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PLEKHA1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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TAPP1 |
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Chromosome
Chromosome number
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10 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q26.13 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| 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 |
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| Sequence length | 404 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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