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] See more...

Aliases for PITPNA Gene

Aliases for PITPNA Gene

  • Phosphatidylinositol Transfer Protein Alpha 2 3 5
  • Phosphatidylinositol Transfer Protein Alpha Isoform 3 4
  • PtdIns Transfer Protein Alpha 3 4
  • PtdInsTP Alpha 3 4
  • PI-TP-Alpha 3 4
  • PITPN 3 4
  • VIB1A 2 3
  • Phosphotidylinositol Transfer Protein 2
  • Epididymis Secretory Protein Li 36 3
  • PI-TPalpha 3
  • HEL-S-36 3
  • PITPNA 5

External Ids for PITPNA Gene

Previous HGNC Symbols for PITPNA Gene

  • PITPN

Previous GeneCards Identifiers for PITPNA Gene

  • GC17M001368
  • GC17M001421
  • GC17M001523

Summaries for PITPNA Gene

Entrez Gene Summary for PITPNA Gene

  • 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]

GeneCards Summary for PITPNA Gene

PITPNA (Phosphatidylinositol Transfer Protein Alpha) is a Protein Coding gene. Diseases associated with PITPNA include Cerebellar Ataxia, Cayman Type and Gillespie Syndrome. Among its related pathways are Netrin-1 signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylcholine transporter activity. An important paralog of this gene is PITPNB.

UniProtKB/Swiss-Prot Summary for PITPNA Gene

  • Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes (PubMed:10531358, PubMed:22822086, PubMed:15522822, PubMed:18636990, PubMed:14962392). Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions (PubMed:15522822, PubMed:22822086). Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3 (PubMed:22822086).

Gene Wiki entry for PITPNA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITPNA Gene

Genomics for PITPNA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PITPNA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITPNA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNA

Top Transcription factor binding sites by QIAGEN in the PITPNA gene promoter:
  • AP-4
  • Nkx6-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for PITPNA Gene

Latest Assembly
chr17:1,517,718-1,562,803
(GRCh38/hg38)
Size:
45,086 bases
Orientation:
Minus strand

Previous Assembly
chr17:1,421,012-1,466,086
(GRCh37/hg19 by Entrez Gene)
Size:
45,075 bases
Orientation:
Minus strand

chr17:1,421,012-1,466,110
(GRCh37/hg19 by Ensembl)
Size:
45,099 bases
Orientation:
Minus strand

Genomic View for PITPNA Gene

Genes around PITPNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNA Gene

Proteins for PITPNA Gene

  • Protein details for PITPNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00169-PIPNA_HUMAN
    Recommended name:
    Phosphatidylinositol transfer protein alpha isoform
    Protein Accession:
    Q00169

    Protein attributes for PITPNA Gene

    Size:
    270 amino acids
    Molecular mass:
    31806 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PITPNA Gene

neXtProt entry for PITPNA Gene

Post-translational modifications for PITPNA Gene

  • Ubiquitination at Lys86, Lys178, Lys201, and Lys208
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PITPNA Gene

Domains & Families for PITPNA Gene

Gene Families for PITPNA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PITPNA Gene

InterPro:
Blocks:
  • Phosphatidylinositol transfer protein signature

Suggested Antigen Peptide Sequences for PITPNA Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol transfer protein alpha isoform (PIPNA_HUMAN)
  • PITPNA protein (Q6NUL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00169

UniProtKB/Swiss-Prot:

PIPNA_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
genes like me logo Genes that share domains with PITPNA: view

Function for PITPNA Gene

Molecular function for PITPNA Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes (PubMed:10531358, PubMed:22822086, PubMed:15522822, PubMed:18636990, PubMed:14962392). Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions (PubMed:15522822, PubMed:22822086). Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3 (PubMed:22822086).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence={ECO:0000269|PubMed:14962392, ECO:0000269|PubMed:15522822, ECO:0000269|PubMed:22822086};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out); Xref=Rhea:RHEA:38691, ChEBI:CHEBI:57880; Evidence={ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:14962392, ECO:0000269|PubMed:15522822, ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:22822086};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.

Phenotypes From GWAS Catalog for PITPNA Gene

Gene Ontology (GO) - Molecular Function for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity TAS,IDA 16274224
GO:0008526 phosphatidylinositol transporter activity TAS,IMP 14962392
genes like me logo Genes that share ontologies with PITPNA: view
genes like me logo Genes that share phenotypes with PITPNA: view

Animal Models for PITPNA Gene

MGI Knock Outs for PITPNA:

miRNA for PITPNA Gene

miRTarBase miRNAs that target PITPNA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITPNA Gene

Localization for PITPNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNA Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITPNA gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IBA,ISS --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with PITPNA: view

Pathways & Interactions for PITPNA Gene

genes like me logo Genes that share pathways with PITPNA: view

Pathways by source for PITPNA Gene

Gene Ontology (GO) - Biological Process for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8194769
GO:0007601 visual perception TAS 7914867
GO:0015914 phospholipid transport IEA,IDA 16274224
GO:0035722 interleukin-12-mediated signaling pathway TAS --
GO:0120009 intermembrane lipid transfer IEA --
genes like me logo Genes that share ontologies with PITPNA: view

No data available for SIGNOR curated interactions for PITPNA Gene

Drugs & Compounds for PITPNA Gene

(3) Drugs for PITPNA Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(Z,Z)-4-Hydroxy-N,N,N-Trimethyl-10-Oxo-7-[(1-Oxo-9-Octadecenyl)Oxy]-3,5,9-Trioxa-4-Phosphaheptacos-18-En-1-Aminium-4-Oxide Experimental Pharma Target 0
1,2-diacyl-sn-glycero-3-phosphoinositol Experimental Pharma Target 0
L-Dilinoleoyllecithin Experimental Pharma 0

(389) Additional Compounds for PITPNA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
61510-09-6
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
PC(20:2(11Z,14Z)/18:1(11Z))
  • Phosphatidylcholine(20:2/18:1)
  • GPCho(20:2/18:1)
  • Phosphatidylcholine(38:3)
  • PC(38:3)
  • Lecithin
PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z))
  • PC(22:4/18:1)
  • Phosphatidylcholine(22:4/18:1)
  • Phosphatidylcholine(40:5)
  • 1-Adrenoyl-2-vaccenoyl-sn-glycero-3-phosphocholine
  • GPCho(40:5)
2461-62-3
Phosphatidylcholines Group A
  • (R-(Z,Z))-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • 1,2-Di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dioleoyl-L-alpha-lecithin
  • 1-(9Z)-Octadecenoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine
  • 1-C18:1(Omega-9)-2-C18:1(omega-9)-phosphatidylcholine
4235-95-4, 18194-24-6, 944466-40-4, 92345-33-0, 253127-60-5, 53595-24-7, 59403-51-9, 26853-31-6, 17708-90-6, 203393-39-9, 203393-41-3, 35418-58-7, 85046-19-1, 56421-10-4, 27098-24-4, 2701-19-1, 85082-02-6, 17041-44-0, 35418-59-8, 1191905-21-1, 85082-03-7, 182820-31-1, 324054-21-9
genes like me logo Genes that share compounds with PITPNA: view

Transcripts for PITPNA Gene

mRNA/cDNA for PITPNA Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNA

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNA Gene

No ASD Table

Relevant External Links for PITPNA Gene

GeneLoc Exon Structure for
PITPNA

Expression for PITPNA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PITPNA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITPNA Gene

This gene is overexpressed in Brain (9.8) and Skin (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PITPNA Gene



Protein tissue co-expression partners for PITPNA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PITPNA

SOURCE GeneReport for Unigene cluster for PITPNA Gene:

Hs.429819

Evidence on tissue expression from TISSUES for PITPNA Gene

  • Nervous system(4.8)
  • Eye(3.5)
  • Lung(2.5)
  • Skin(2.1)
  • Intestine(2.1)
  • Kidney(2.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with PITPNA: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNA Gene

Orthologs for PITPNA Gene

This gene was present in the common ancestor of animals.

Orthologs for PITPNA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PITPNA 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PITPNA 29 30
  • 94.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pitpna 29 16 30
  • 93.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pitpna 29
  • 93.21 (n)
Cow
(Bos Taurus)
Mammalia PITPNA 29 30
  • 92.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PITPNA 30
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PITPNA 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PITPNA 30
  • 89 (a)
OneToOne
LOC100859747 29
  • 82.89 (n)
Lizard
(Anolis carolinensis)
Reptilia PITPNA 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pitpna 29
  • 80 (n)
African clawed frog
(Xenopus laevis)
Amphibia pitpn-prov 29
Zebrafish
(Danio rerio)
Actinopterygii pitpnaa 30
  • 79 (a)
OneToMany
pitpnab 29 30
  • 76.78 (n)
OneToMany
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.529 29
Fruit Fly
(Drosophila melanogaster)
Insecta vib 30
  • 59 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y54F10AR.1 30
  • 58 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9844 30
  • 57 (a)
OneToMany
Species where no ortholog for PITPNA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PITPNA Gene

ENSEMBL:
Gene Tree for PITPNA (if available)
TreeFam:
Gene Tree for PITPNA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNA: view image
Alliance of Genome Resources:
Additional Orthologs for PITPNA

Paralogs for PITPNA Gene

Paralogs for PITPNA Gene

(4) SIMAP similar genes for PITPNA Gene using alignment to 11 proteins:

  • PIPNA_HUMAN
  • F5GWE5_HUMAN
  • I3L2X8_HUMAN
  • I3L3W1_HUMAN
  • I3L459_HUMAN
  • I3L471_HUMAN
  • I3L4C0_HUMAN
  • I3L4H1_HUMAN
  • I3L4U7_HUMAN
  • I3NI10_HUMAN
  • Q6NUL6_HUMAN
genes like me logo Genes that share paralogs with PITPNA: view

Variants for PITPNA Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PITPNA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PITPNA Gene

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

Variation tolerance for PITPNA Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PITPNA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNA
Leiden Open Variation Database (LOVD)
PITPNA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNA Gene

Disorders for PITPNA Gene

MalaCards: The human disease database

(6) MalaCards diseases for PITPNA Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PITPNA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PITPNA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PITPNA Gene

Publications for PITPNA Gene

  1. Acyl chain-based molecular selectivity for HL60 cellular phosphatidylinositol and of phosphatidylcholine by phosphatidylinositol transfer protein alpha. (PMID: 15522822) Hunt AN … Cockcroft S (Biochimica et biophysica acta 2004) 3 4 22
  2. Structure-function analysis of human [corrected] phosphatidylinositol transfer protein alpha bound to phosphatidylinositol. (PMID: 14962392) Tilley SJ … McDonald NQ (Structure (London, England : 1993) 2004) 3 4 22
  3. Sequence of a human cDNA encoding phosphatidylinositol transfer protein and occurrence of a related sequence in widely divergent eukaryotes. (PMID: 8194769) Dickeson SK … Yarbrough LR (Gene 1994) 3 4 22
  4. Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1) binds and transfers phosphatidic acid. (PMID: 22822086) Garner K … Cockcroft S (The Journal of biological chemistry 2012) 3 4
  5. Dynamics of lipid transfer by phosphatidylinositol transfer proteins in cells. (PMID: 18636990) Shadan S … Cockcroft S (Traffic (Copenhagen, Denmark) 2008) 3 4

Products for PITPNA Gene

Sources for PITPNA Gene