InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PITPNM3

Summary

InnateDB Protein

IDBP-22228.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PITPNM3

Protein Name

PITPNM family member 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000262483

InnateDB Gene

IDBG-22224 (PITPNM3)

Protein Structure

UniProt Annotation

Function

Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions. {ECO:0000250}.

Subcellular Localization

Endomembrane system {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.

Disease Associations

Cone-rod dystrophy 5 (CORD5) [MIM:600977]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:17377520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in brain and spleen, and at low levels in ovary. {ECO:0000269PubMed:10022914}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008289	lipid binding
GO:0008526	phosphatidylinositol transporter activity
GO:0030971	receptor tyrosine kinase binding
GO:0046872	metal ion binding