PLEKHA1

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. [provided by RefSeq, Sep 2010]

Description

Pleckstrin homology domain containing A1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10:q26.13 (122374696 - 122442602)

Ensembl ID

ENSG00000107679  (ver. 103.38)

Orthologs

Mouse Plekha1: ENSMUSG00000040268

UniProt

Q9HB21

neXtProt

NX_Q9HB21

Human splice variants
Mouse splice variants