membrane-associated phosphatidylinositol transfer protein 3; phosphatidylinositol transfer protein, membrane-associated 3; PITPnm 3; Pyk2 N-terminal domain-interacting receptor 1; NIR-1 (PITPNM3 NIR1)

Function

• catalyzes the transfer of phosphatidylinositol & phosphatidylcholine between membranes
• binds Ca+2
• interacts with PTK2B via its C-terminus

Structure

• belongs to the Ptdins transfer protein family, PI transfer class IIA subfamily
• contains 1 DDHD domain

Compartment

intracellular membrane, peripheral membrane

Alternative splicing

named isoforms=2; intron retention

Expression

expressed in brain, spleen > ovary

Pathology

• defects in PITPNM3 are the cause of cone-rod dystrophy type 5

More general terms

• membrane-associated phosphatidylinositol transfer protein
• phosphoprotein
• human longevity protein

Additional terms

• phosphatidylinositol (phosphoinositide, 1-phosphatidyl-1D-myo-inositol)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=83394
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:83394
• OMIM: https://mirror.omim.org/entry/600977
• OMIM: https://mirror.omim.org/entry/608921
• UniProt: http://www.uniprot.org/uniprot/Q9BZ71.html