Recombinant Human Pleckstrin homology domain-containing family A member 1 (PLEKHA1)

Uniprot Id

Q9HB21

Target Species

Human

Target Name

PLEKHA1

Target Full Name

Pleckstrin homology domain-containing family A member 1

Target Function

Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.

Target Subcellular Location

Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus.

Target 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.

Target Synonyms

OTTHUMP00000020651; PH domain containing family A member 1; PH domain-containing family A member 1; PKHA1_HUMAN; Pleckstrin homology domain containing A1; Pleckstrin homology domain containing family A member 1; Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member; Pleckstrin homology domain-containing family A member 1; PLEKHA1; Tandem PH domain containing protein 1; Tandem PH domain-containing protein 1; TAPP 1; TAPP-1; TAPP1

Target Background

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 signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.