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This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
PITPNA (Phosphatidylinositol Transfer Protein Alpha) is a Protein Coding gene. Among its related pathways are Developmental Biology and Netrin-1 signaling. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylcholine transporter activity. An important paralog of this gene is PITPNB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008289 | lipid binding | IEA | -- |
GO:0008525 | phosphatidylcholine transporter activity | IDA,TAS | 16274224 |
GO:0008526 | phosphatidylinositol transporter activity | TAS,IDA | 16274224 |
GO:0031210 | phosphatidylcholine binding | IDA | 16274224 |
GO:0035091 | phosphatidylinositol binding | IDA | 16274224 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 18570454 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology |
.51
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2 | Netrin-1 signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | NAS | 8194769 |
GO:0007409 | axonogenesis | IEA | -- |
GO:0007601 | visual perception | TAS | 7914867 |
GO:0015914 | phospholipid transport | IDA,IEA | 16274224 |
GO:0035722 | interleukin-12-mediated signaling pathway | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
PC(18:1(9Z)e/2:0) |
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Phosphatidylcholines Group A |
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68737-67-7 |
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Phosphatidylcholines Group B |
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88542-95-4 |
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Phosphatidylinositol-3,4,5-trisphosphate |
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PI(16:0/16:0) |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PITPNA 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | PITPNA 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Pitpna 17 33 32 |
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||
rat (Rattus norvegicus) |
Mammalia | Pitpna 32 |
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||
cow (Bos Taurus) |
Mammalia | PITPNA 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | PITPNA 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | PITPNA 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PITPNA 33 |
|
OneToOne | |
LOC100859747 32 |
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lizard (Anolis carolinensis) |
Reptilia | PITPNA 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | pitpna 32 |
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African clawed frog (Xenopus laevis) |
Amphibia | pitpn-prov 32 |
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zebrafish (Danio rerio) |
Actinopterygii | pitpnaa 33 |
|
OneToMany | |
pitpnab 33 32 |
|
OneToMany | |||
-- 32 |
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rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.529 32 |
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fruit fly (Drosophila melanogaster) |
Insecta | vib 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | Y54F10AR.1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9844 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000015190 | -- | 1,528,241(-) | A/G | intron_variant | |
rs1000032744 | -- | 1,534,763(-) | T/C | intron_variant | |
rs1000101300 | -- | 1,535,769(-) | G/A | intron_variant | |
rs1000104661 | -- | 1,524,334(-) | G/A | intron_variant | |
rs1000195913 | -- | 1,547,666(-) | T/A/C | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2664141 | CNV | deletion | 23128226 |
esv2672007 | CNV | deletion | 23128226 |
esv2715467 | CNV | deletion | 23290073 |
esv2715468 | CNV | deletion | 23290073 |
esv2715469 | CNV | deletion | 23290073 |
esv2715470 | CNV | deletion | 23290073 |
esv2715471 | CNV | deletion | 23290073 |
esv3553983 | CNV | deletion | 23714750 |
esv3553984 | CNV | deletion | 23714750 |
esv3639689 | CNV | gain | 21293372 |
nsv1116178 | CNV | deletion | 24896259 |
nsv112511 | CNV | deletion | 16902084 |
nsv1131292 | CNV | deletion | 24896259 |
nsv1143841 | CNV | deletion | 24896259 |
nsv1945 | CNV | insertion | 18451855 |
nsv457635 | CNV | gain | 19166990 |
nsv833334 | CNV | loss | 17160897 |
No disorders were found for PITPNA Gene.