PITPNM3

This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Description

PITPNM family member 3

Tissue specificity

Tissue enhanced (lymphoid tissue)

Subcell location

Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (6451263 - 6556555)

Ensembl ID

ENSG00000091622  (ver. 103.38)

Orthologs

Mouse Pitpnm3: ENSMUSG00000040543

UniProt

Q9BZ71

neXtProt

NX_Q9BZ71

Human splice variants
Mouse splice variants

Protein structure