Version 5.4
Homo sapiens Gene: PITPNM3
Summary
InnateDB Gene IDBG-22224.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PITPNM3
Gene Name PITPNM family member 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000091622
Encoded Proteins
IDBP-22228
PITPNM family member 3
IDBP-380051
PITPNM family member 3
IDBP-760668
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:6451264-6556494
Strand Reverse strand
Band p13.1
Transcripts
ENST00000262483 ENSP00000262483
ENST00000421306 ENSP00000407882
ENST00000575201 ENSP00000458901
ENST00000576664
ENST00000572795
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
Biological Process
GO:0015914 phospholipid transport
GO:0046488 phosphatidylinositol metabolic process
Cellular Component
GO:0005622 intracellular
GO:0012505 endomembrane system
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000040543
View Gene Order
ENSBTAG00000002982
Not yet available
Cross-References
SwissProt Q9BZ71
TrEMBL
UniProt Splice Variant
Entrez Gene 83394
UniGene Hs.183983 Hs.404323
RefSeq NM_001165966 NM_031220 XM_006721582
HUGO HGNC:21043
OMIM 608921
CCDS CCDS11076 CCDS54080
HPRD
IMGT
EMBL AB209130 AC055872 AF334586 AL389994 BC035799 BC128584
GenPept AAI28585 AAK01446 BAD92367 CAB97544
RNA Seq Atlas 83394

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca